List of MeSH codes (C18)
Encyclopedia
The following is a list of the "C" codes for MeSH
. It is a product of the United States National Library of Medicine
.
Source for content is here. (File "2006 MeSH Trees".)
--- acid-base imbalance
--- achlorhydria
--- acidosis
--- acidosis, lactic --- acidosis, renal tubular --- acidosis, respiratory --- diabetic ketoacidosis
--- ketosis
--- alkalosis
--- alkalosis, respiratory
--- amyloidosis
--- amyloid neuropathies --- amyloid neuropathies, familial --- amyloidosis, familial --- amyloid neuropathies, familial --- cerebral amyloid angiopathy, familial --- cerebral amyloid angiopathy --- cerebral amyloid angiopathy, familial
--- carbamoyl-phosphate synthase i deficiency disease --- citrullinemia
--- galactosemias --- hartnup disease
--- hepatolenticular degeneration --- homocystinuria
--- hyperargininemia --- hyperglycinemia, nonketotic --- hyperlysinemias --- leigh disease --- lesch-nyhan syndrome
--- lysosomal storage diseases, nervous system --- fucosidosis
--- glycogen storage disease type ii
--- mucolipidoses --- sialic acid storage disease --- sphingolipidoses
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
--- tay-sachs disease
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- maple syrup urine disease
--- melas syndrome --- menkes kinky hair syndrome --- merrf syndrome
--- oculocerebrorenal syndrome
--- ornithine carbamoyltransferase deficiency disease --- peroxisomal disorders --- adrenoleukodystrophy
--- refsum disease --- zellweger syndrome
--- phenylketonurias --- phenylketonuria, maternal --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease --- tyrosinemias --- hepatic encephalopathy
--- kernicterus
--- mitochondrial encephalomyopathies --- myelinolysis, central pontine --- reye syndrome --- wernicke encephalopathy
--- calciphylaxis
--- crest syndrome
--- nephrocalcinosis
--- decalcification, pathologic --- hypercalcemia --- hypocalcemia --- tetany
--- osteomalacia
--- pseudohypoparathyroidism
--- pseudopseudohypoparathyroidism
--- rickets
--- bloom syndrome
--- cockayne syndrome
--- colorectal neoplasms, hereditary nonpolyposis --- fanconi anemia
--- li-fraumeni syndrome
--- nijmegen breakage syndrome
--- rothmund-thomson syndrome
--- severe combined immunodeficiency
--- werner syndrome
--- xeroderma pigmentosum
--- hypercholesterolemia
--- hypercholesterolemia, familial --- hyperlipidemia, familial combined --- hypercholesterolemia, familial --- hyperlipoproteinemia type iv --- hypertriglyceridemia
--- hyperlipoproteinemia --- hypercholesterolemia, familial --- hyperlipoproteinemia type iii --- hyperlipoproteinemia type iv --- hyperlipoproteinemia type v --- lipoprotein lipase deficiency, familial --- hypolipoproteinemia
--- abetalipoproteinemia
--- hypobetalipoproteinemia
--- lecithin acyltransferase deficiency --- tangier disease
--- diabetes mellitus, experimental --- diabetes mellitus, type 1 --- wolfram syndrome
--- diabetes mellitus, type 2 --- diabetes mellitus, lipoatrophic --- diabetes, gestational --- diabetic ketoacidosis
--- prediabetic state --- glycosuria
--- glycosuria, renal --- hyperglycemia
--- glucose intolerance
--- hyperinsulinism
--- insulin resistance
--- metabolic syndrome x --- persistent hyperinsulinemia hypoglycemia of infancy --- hypoglycemia
--- insulin coma --- persistent hyperinsulinemia hypoglycemia of infancy
--- celiac disease --- lactose intolerance
--- sprue, tropical --- steatorrhea
--- whipple disease
--- albinism, ocular --- albinism, oculocutaneous --- hermanski-pudlak syndrome --- piebaldism
--- alkaptonuria
--- aminoaciduria, renal --- cystinuria
--- hartnup disease
--- carbamoyl-phosphate synthase i deficiency disease --- citrullinemia
--- homocystinuria
--- hyperargininemia --- hyperglycinemia, nonketotic --- hyperhomocysteinemia
--- hyperlysinemias --- maple syrup urine disease
--- multiple carboxylase deficiency
--- biotinidase deficiency
--- holocarboxylase synthetase deficiency
--- ornithine carbamoyltransferase deficiency disease --- phenylketonurias --- phenylketonuria, maternal --- tyrosinemias --- amino acid transport disorders, inborn --- hartnup disease
--- oculocerebrorenal syndrome
--- amyloidosis, familial --- amyloid neuropathies, familial --- cerebral amyloid angiopathy, familial --- brain diseases, metabolic, inborn --- abetalipoproteinemia
--- carbamoyl-phosphate synthase i deficiency disease --- cerebral amyloid angiopathy, familial --- citrullinemia
--- fucosidosis
--- galactosemias --- glycogen storage disease type ii
--- hartnup disease
--- hepatolenticular degeneration --- homocystinuria
--- hyperargininemia --- hyperglycinemia, nonketotic --- hyperlysinemias --- leigh disease --- lesch-nyhan syndrome
--- lysosomal storage diseases, nervous system --- fucosidosis
--- glycogen storage disease type ii
--- mucolipidoses --- sialic acid storage disease --- sphingolipidoses
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
--- tay-sachs disease
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- maple syrup urine disease
--- melas syndrome --- menkes kinky hair syndrome --- merrf syndrome
--- mucolipidoses --- oculocerebrorenal syndrome
--- ornithine carbamoyltransferase deficiency disease --- peroxisomal disorders --- adrenoleukodystrophy
--- refsum disease --- zellweger syndrome
--- phenylketonurias --- phenylketonuria, maternal --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease --- sphingolipidoses
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
--- tay-sachs disease
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- tyrosinemias --- carbohydrate metabolism, inborn errors --- carbohydrate-deficient glycoprotein syndrome --- fructose metabolism, inborn errors --- fructose-1,6-diphosphatase deficiency --- fructose intolerance
--- fucosidosis
--- galactosemias --- glycogen storage disease
--- glycogen storage disease type i
--- glycogen storage disease type ii
--- glycogen storage disease type iib --- glycogen storage disease type iii
--- glycogen storage disease type iv
--- glycogen storage disease type v
--- glycogen storage disease type vi
--- glycogen storage disease type vii --- glycogen storage disease type viii --- hyperoxaluria, primary --- lactose intolerance
--- mannosidase deficiency diseases --- alpha-mannosidosis
--- beta-mannosidosis
--- mucolipidoses --- mucopolysaccharidoses --- mucopolysaccharidosis i --- mucopolysaccharidosis ii --- mucopolysaccharidosis iii --- mucopolysaccharidosis iv --- mucopolysaccharidosis vi
--- mucopolysaccharidosis vii --- multiple carboxylase deficiency
--- biotinidase deficiency
--- holocarboxylase synthetase deficiency
--- pyruvate metabolism, inborn errors --- leigh disease --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease --- cytochrome-c oxidase deficiency --- glucosephosphate dehydrogenase deficiency --- hyperbilirubinemia, hereditary --- crigler-najjar syndrome
--- gilbert disease --- jaundice, chronic idiopathic --- lipid metabolism, inborn errors --- hypercholesterolemia, familial --- hyperlipidemia, familial combined --- hypercholesterolemia, familial --- hyperlipoproteinemia type iv --- hyperlipoproteinemia type iii --- hyperlipoproteinemia type iv --- hyperlipoproteinemia type v --- hypolipoproteinemia
--- abetalipoproteinemia
--- hypobetalipoproteinemia
--- lecithin acyltransferase deficiency --- tangier disease
--- lipoidosis --- cholesterol ester storage disease --- lipoidproteinosis --- neuronal ceroid-lipofuscinosis --- refsum disease --- sjogren-larsson syndrome
--- sphingolipidoses
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
--- tay-sachs disease
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- sea-blue histiocyte syndrome --- wolman disease
--- lipoprotein lipase deficiency, familial --- peroxisomal disorders --- acatalasia
--- adrenoleukodystrophy
--- chondrodysplasia punctata, rhizomelic --- refsum disease --- zellweger syndrome
--- smith-lemli-opitz syndrome
--- xanthomatosis, cerebrotendinous --- lysosomal storage diseases --- cholesterol ester storage disease --- lysosomal storage diseases, nervous system --- fucosidosis
--- glycogen storage disease type ii
--- mucolipidoses --- sialic acid storage disease --- sphingolipidoses
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
--- tay-sachs disease
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- mannosidase deficiency diseases --- alpha-mannosidosis
--- beta-mannosidosis
--- mucopolysaccharidoses --- mucopolysaccharidosis i --- mucopolysaccharidosis ii --- mucopolysaccharidosis iii --- mucopolysaccharidosis iv --- mucopolysaccharidosis vi
--- mucopolysaccharidosis vii --- sphingolipidoses
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
--- tay-sachs disease
--- tay-sachs disease, ab variant --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- sea-blue histiocyte syndrome --- wolman disease
--- metal metabolism, inborn errors --- hemochromatosis --- hepatolenticular degeneration --- hypophosphatasia
--- hypophosphatemia, familial --- menkes kinky hair syndrome --- paralyses, familial periodic --- hypokalemic periodic paralysis
--- paralysis, hyperkalemic periodic --- pseudohypoparathyroidism
--- pseudopseudohypoparathyroidism
--- porphyria, erythropoietic --- porphyrias, hepatic --- coproporphyria, hereditary --- porphyria, acute intermittent --- porphyria cutanea tarda
--- porphyria, hepatoerythropoietic --- porphyria, variegate --- protoporphyria, erythropoietic --- progeria
--- purine-pyrimidine metabolism, inborn errors --- gout
--- arthritis, gouty --- lesch-nyhan syndrome
--- renal tubular transport, inborn errors --- acidosis, renal tubular --- aminoaciduria, renal --- cystinuria
--- hartnup disease
--- cystinosis
--- fanconi syndrome
--- glycosuria, renal --- hypophosphatemia, familial --- oculocerebrorenal syndrome
--- pseudohypoaldosteronism
--- steroid metabolism, inborn errors --- adrenal hyperplasia, congenital --- mineralocorticoid excess syndrome, apparent --- ichthyosis, x-linked --- smith-lemli-opitz syndrome
--- ophthalmoplegia, chronic progressive external --- kearns-sayer syndrome --- optic atrophy, autosomal dominant --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease
--- porphyrias --- porphyria, erythropoietic --- porphyrias, hepatic --- coproporphyria, hereditary --- porphyria, acute intermittent --- porphyria cutanea tarda
--- porphyria, hepatoerythropoietic --- porphyria, variegate --- protoporphyria, erythropoietic --- xanthogranuloma, juvenile --- xanthomatosis --- wolman disease
--- xanthomatosis, cerebrotendinous
--- hypercalcemia --- hyperkalemia
--- hypernatremia
--- hypocalcemia --- hypokalemia
--- hyponatremia
--- inappropriate adh syndrome --- water intoxication
--- malnutrition
--- deficiency diseases --- avitaminosis
--- ascorbic acid deficiency --- scurvy
--- vitamin a deficiency
--- vitamin b deficiency --- choline deficiency --- folic acid deficiency --- pellagra
--- riboflavin deficiency --- thiamine deficiency --- beriberi
--- wernicke encephalopathy --- vitamin b 6 deficiency --- vitamin b 12 deficiency --- anemia, pernicious --- vitamin d deficiency --- osteomalacia
--- rickets
--- vitamin e deficiency
--- steatitis --- vitamin k deficiency
--- hemorrhagic disease of newborn --- magnesium deficiency
--- potassium deficiency
--- protein deficiency --- protein-energy malnutrition
--- kwashiorkor
--- swayback --- fetal nutrition disorders --- starvation
--- overnutrition
--- obesity
--- obesity hypoventilation syndrome --- obesity, morbid --- prader-willi syndrome
Mesh
Mesh consists of semi-permeable barrier made of connected strands of metal, fiber, or other flexible/ductile material. Mesh is similar to web or net in that it has many attached or woven strands.-Types of mesh:...
. It is a product of the United States National Library of Medicine
United States National Library of Medicine
The United States National Library of Medicine , operated by the United States federal government, is the world's largest medical library. Located in Bethesda, Maryland, the NLM is a division of the National Institutes of Health...
.
Source for content is here. (File "2006 MeSH Trees".)
--- acid-base imbalanceAcid-base imbalanceAcid–base imbalance is an abnormality of the human body's normal balance of acids and bases that causes the plasma pH to deviate out of the normal range . In the fetus, the normal range differs based on which umbilical vessel is sampled...
--- achlorhydriaAchlorhydria
Achlorhydria or hypochlorhydria refers to states where the production of gastric acid in the stomach is absent or low, respectively. It is associated with various other medical problems.-Signs and symptoms:...
--- acidosis
Acidosis
Acidosis is an increased acidity in the blood and other body tissue . If not further qualified, it usually refers to acidity of the blood plasma....
--- acidosis, lactic --- acidosis, renal tubular --- acidosis, respiratory --- diabetic ketoacidosis
Diabetic ketoacidosis
Diabetic ketoacidosis is a potentially life-threatening complication in patients with diabetes mellitus. It happens predominantly in those with type 1 diabetes, but it can occur in those with type 2 diabetes under certain circumstances...
--- ketosis
Ketosis
Ketosis is a state of elevated levels of ketone bodies in the body. It is almost always generalized throughout the body, with hyperketonemia, that is, an elevated level of ketone bodies in the blood. Ketone bodies are formed by ketogenesis when the liver glycogen stores are depleted...
--- alkalosis
Alkalosis
Alkalosis refers to a condition reducing hydrogen ion concentration of arterial blood plasma . Generally, alkalosis is said to occur when pH of the blood exceeds 7.45. The opposite condition is acidosis .-Causes:...
--- alkalosis, respiratory
--- amyloidosisAmyloidosisIn medicine, amyloidosis refers to a variety of conditions whereby the body produces "bad proteins", denoted as amyloid proteins, which are abnormally deposited in organs and/or tissues and cause harm. A protein is described as being amyloid if, due to an alteration in its secondary structure, it...
--- amyloid neuropathies --- amyloid neuropathies, familial --- amyloidosis, familial --- amyloid neuropathies, familial --- cerebral amyloid angiopathy, familial --- cerebral amyloid angiopathy --- cerebral amyloid angiopathy, familial--- brain diseases, metabolic
--- brain diseases, metabolic, inborn --- abetalipoproteinemiaAbetalipoproteinemia
Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a deficiency of apolipoprotein B-48 and B-100, which are used in the synthesis and exportation of...
--- carbamoyl-phosphate synthase i deficiency disease --- citrullinemia
Citrullinemia
Citrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood....
--- galactosemias --- hartnup disease
Hartnup disease
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids...
--- hepatolenticular degeneration --- homocystinuria
Homocystinuria
Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase...
--- hyperargininemia --- hyperglycinemia, nonketotic --- hyperlysinemias --- leigh disease --- lesch-nyhan syndrome
Lesch-Nyhan syndrome
Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
--- lysosomal storage diseases, nervous system --- fucosidosis
Fucosidosis
Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...
--- glycogen storage disease type ii
Glycogen storage disease type II
Glycogen storage disease type II is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme...
--- mucolipidoses --- sialic acid storage disease --- sphingolipidoses
Sphingolipidoses
-Accumulated products:* Gangliosides: Gangliosidosis** GM1 gangliosidoses** GM2 gangliosidoses*** Tay-Sachs disease*** Sandhoff disease* Glycolipids** Fabry's disease** Krabbe disease** Metachromatic leukodystrophy*Glucocerebrosides**Gaucher's disease...
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
Sandhoff disease
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
--- tay-sachs disease
Tay-Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder...
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- maple syrup urine disease
Maple syrup urine disease
Maple syrup urine disease , also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia...
--- melas syndrome --- menkes kinky hair syndrome --- merrf syndrome
MERRF syndrome
MERRF syndrome is a mitochondrial disease. It is extremely rare, with an estimated prevalence of 1/400,000 in Europe, and has varying degrees of expressivity owing to heteroplasmy-Presentation:...
--- oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets....
--- ornithine carbamoyltransferase deficiency disease --- peroxisomal disorders --- adrenoleukodystrophy
Adrenoleukodystrophy
Adrenoleukodystrophy is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies, whose chief feature is damage to myelin...
--- refsum disease --- zellweger syndrome
Zellweger syndrome
Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder, characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies...
--- phenylketonurias --- phenylketonuria, maternal --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease --- tyrosinemias --- hepatic encephalopathy
Hepatic encephalopathy
Hepatic encephalopathy is the occurrence of confusion, altered level of consciousness and coma as a result of liver failure. In the advanced stages it is called hepatic coma or coma hepaticum...
--- kernicterus
Kernicterus
Kernicterus is damage to the brain centers of infants caused by increased levels of unconjugated bilirubin. This may be due to several underlying pathologic processes. Newborn babies are often polycythemic. When they break down the erythrocytes, one of the byproducts is bilirubin, which circulates...
--- mitochondrial encephalomyopathies --- myelinolysis, central pontine --- reye syndrome --- wernicke encephalopathy
--- calcium metabolism disorders
--- calcinosisCalcinosis
-Dystrophic calcification:The most common type of calcinosis is dystrophic calcification. This type of calcification can occur as a response to any soft tissue damage, including that involved in implantation of medical devices.-Metastatic calcification:...
--- calciphylaxis
Calciphylaxis
Calciphylaxis is a syndrome of vascular calcification, thrombosis and skin necrosis. It is seen almost exclusively in patients with Stage 5 chronic kidney disease. It results in chronic non-healing wounds and is usually fatal. Calciphylaxis is a rare but serious disease. Calciphylaxis is one type...
--- crest syndrome
CREST syndrome
The limited cutaneous form of systemic scleroderma is often referred to as CREST syndrome. "CREST" is an acronym for the five main features:* Calcinosis* Raynaud's syndrome* Esophageal dysmotility* Sclerodactyly* Telangiectasia...
--- nephrocalcinosis
Nephrocalcinosis
Nephrocalcinosis, once known as Albright's calcinosis after Fuller Albright, is a term originally used to describe deposition of calcium salts in the renal parenchyma due to hyperparathyroidism. It is now more commonly used to describe diffuse, fine, renal parenchymal calcification on radiology...
--- decalcification, pathologic --- hypercalcemia --- hypocalcemia --- tetany
Tetany
Tetany has two meanings, though both are related to the muscular system.* Tetany * Tetany The terms "tetany" and "tetanus" are distinct....
--- osteomalacia
Osteomalacia
Osteomalacia is the softening of the bones caused by defective bone mineralization secondary to inadequate amounts of available phosphorus and calcium, or because of overactive resorption of calcium from the bone as a result of hyperparathyroidism...
--- pseudohypoparathyroidism
Pseudohypoparathyroidism
Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is actually appropriately high...
--- pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation...
--- rickets
Rickets
Rickets is a softening of bones in children due to deficiency or impaired metabolism of vitamin D, magnesium , phosphorus or calcium, potentially leading to fractures and deformity. Rickets is among the most frequent childhood diseases in many developing countries...
--- dna repair-deficiency disorders
--- ataxia telangiectasiaAtaxia telangiectasia
Ataxia telangiectasia is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease...
--- bloom syndrome
Bloom syndrome
Bloom's syndrome , also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr...
--- cockayne syndrome
Cockayne syndrome
Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
--- colorectal neoplasms, hereditary nonpolyposis --- fanconi anemia
Fanconi anemia
Fanconi anemia is a genetic disease with an incidence of 1 per 350,000 births, with a higher frequency in Ashkenazi Jews and Afrikaners in South Africa.FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair...
--- li-fraumeni syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome. Li-Fraumeni syndrome greatly increases susceptibility to cancer...
--- nijmegen breakage syndrome
Nijmegen breakage syndrome
Nijmegen breakage syndrome , also known as Berlin breakage syndrome and Seemanova syndrome, is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the Double Holliday junction DNA repair mechanism.NBS1 codes for a protein that has two...
--- rothmund-thomson syndrome
Rothmund-Thomson syndrome
Rothmund–Thomson syndrome , also known as poikiloderma atrophicans with cataract or poikiloderma congenitale, is a rare autosomal recessive skin condition originally described by August von Rothmund in 1868. Matthew Sydney Thomson published further descriptions in 1936.There have been several...
--- severe combined immunodeficiency
Severe combined immunodeficiency
Severe combined immunodeficiency , is a genetic disorder in which both "arms" of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency...
--- werner syndrome
Werner syndrome
Werner syndrome is a very rare, autosomal recessive disorder characterized by the appearance of premature aging....
--- xeroderma pigmentosum
Xeroderma pigmentosum
Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. Multiple basal cell carcinomas and other skin...
--- dyslipidemias
--- hyperlipidemiaHyperlipidemia
Hyperlipidemia, hyperlipoproteinemia, or hyperlipidaemia is the condition of abnormally elevated levels of any or all lipids and/or lipoproteins in the blood...
--- hypercholesterolemia
Hypercholesterolemia
Hypercholesterolemia is the presence of high levels of cholesterol in the blood. It is not a disease but a metabolic derangement that can be caused by many diseases, notably cardiovascular disease...
--- hypercholesterolemia, familial --- hyperlipidemia, familial combined --- hypercholesterolemia, familial --- hyperlipoproteinemia type iv --- hypertriglyceridemia
Hypertriglyceridemia
In medicine, hypertriglyceridemia denotes high blood levels of triglycerides, the most abundant fatty molecule in most organisms. It has been associated with atherosclerosis, even in the absence of hypercholesterolemia . It can also lead to pancreatitis in excessive concentrations In medicine,...
--- hyperlipoproteinemia --- hypercholesterolemia, familial --- hyperlipoproteinemia type iii --- hyperlipoproteinemia type iv --- hyperlipoproteinemia type v --- lipoprotein lipase deficiency, familial --- hypolipoproteinemia
Hypolipoproteinemia
Hypolipoproteinemia is defined as a lack of lipoprotein in the blood due to genetic or other diseases such as malnutrition and malabsorption.-Diagnosis:It can be diagnosed via blood study that identifies fat particles...
--- abetalipoproteinemia
Abetalipoproteinemia
Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a deficiency of apolipoprotein B-48 and B-100, which are used in the synthesis and exportation of...
--- hypobetalipoproteinemia
Hypobetalipoproteinemia
Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile. The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol....
--- lecithin acyltransferase deficiency --- tangier disease
Tangier disease
Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein , often referred to as "good cholesterol," in the bloodstream.-Diagnosis:...
--- glucose metabolism disorders
--- diabetes mellitusDiabetes mellitus
Diabetes mellitus, often simply referred to as diabetes, is a group of metabolic diseases in which a person has high blood sugar, either because the body does not produce enough insulin, or because cells do not respond to the insulin that is produced...
--- diabetes mellitus, experimental --- diabetes mellitus, type 1 --- wolfram syndrome
Wolfram syndrome
Wolfram syndrome, also called DIDMOAD , is a rare genetic disorder, causing diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.It was first described in four siblings in 1938 by Dr. Don J...
--- diabetes mellitus, type 2 --- diabetes mellitus, lipoatrophic --- diabetes, gestational --- diabetic ketoacidosis
Diabetic ketoacidosis
Diabetic ketoacidosis is a potentially life-threatening complication in patients with diabetes mellitus. It happens predominantly in those with type 1 diabetes, but it can occur in those with type 2 diabetes under certain circumstances...
--- prediabetic state --- glycosuria
Glycosuria
Glycosuria or glucosuria is the excretion of glucose into the urine. Ordinarily, urine contains no glucose because the kidneys are able to reclaim all of the filtered glucose back into the bloodstream. Glycosuria is nearly always caused by elevated blood glucose levels, most commonly due to...
--- glycosuria, renal --- hyperglycemia
Hyperglycemia
Hyperglycemia or Hyperglycæmia, or high blood sugar, is a condition in which an excessive amount of glucose circulates in the blood plasma. This is generally a glucose level higher than 13.5mmol/l , but symptoms may not start to become noticeable until even higher values such as 15-20 mmol/l...
--- glucose intolerance
Impaired glucose tolerance
Impaired glucose tolerance is a pre-diabetic state of dysglycemia that is associated with insulin resistance and increased risk of cardiovascular pathology. IGT may precede type 2 diabetes mellitus by many years...
--- hyperinsulinism
Hyperinsulinism
Hyperinsulinism refers to an above normal level of insulin in the blood of a person or animal. Normal insulin secretion and blood levels are closely related to the level of glucose in the blood, so that a given level of insulin can be normal for one blood glucose level but low or high for another...
--- insulin resistance
Insulin resistance
Insulin resistance is a physiological condition where the natural hormone insulin becomes less effective at lowering blood sugars. The resulting increase in blood glucose may raise levels outside the normal range and cause adverse health effects, depending on dietary conditions. Certain cell types...
--- metabolic syndrome x --- persistent hyperinsulinemia hypoglycemia of infancy --- hypoglycemia
Hypoglycemia
Hypoglycemia or hypoglycæmia is the medical term for a state produced by a lower than normal level of blood glucose. The term literally means "under-sweet blood"...
--- insulin coma --- persistent hyperinsulinemia hypoglycemia of infancy
--- hyperbilirubinemia
--- hyperbilirubinemia, neonatal --- jaundice, neonatal --- kernicterusKernicterus
Kernicterus is damage to the brain centers of infants caused by increased levels of unconjugated bilirubin. This may be due to several underlying pathologic processes. Newborn babies are often polycythemic. When they break down the erythrocytes, one of the byproducts is bilirubin, which circulates...
--- iron metabolism disorders
--- anemia, iron-deficiency --- iron overload --- hemochromatosis --- hemosiderosisHemosiderosis
Idiopathic pulmonary haemosiderosis is a lung disease of unknown cause that is characterized by alveolar capillary bleeding and accumulation of haemosiderin in the lungs...
--- malabsorption syndromes
--- blind loop syndromeBlind loop syndrome
Blind loop syndrome, also known as Stagnant loop syndrome, is a medical condition that occurs when the intestine is obstructed, slowing or stopping the progress of digested food, and thus facilitating the growth of bacteria to the point that problems in nutrient absorption occur.-Physiology:The...
--- celiac disease --- lactose intolerance
Lactose intolerance
Lactose intolerance, also called lactase deficiency or hypolactasia, is the inability to digest and metabolize lactose, a sugar found in milk...
--- sprue, tropical --- steatorrhea
Steatorrhea
Steatorrhea is the presence of excess fat in feces. Stools may also float due to excess lipid, have an oily appearance and be especially foul-smelling. An oily anal leakage or some level of fecal incontinence may occur. There is increased fat excretion, which can be measured by determining the...
--- whipple disease
--- metabolism, inborn errors
--- amino acid metabolism, inborn errors --- albinismAlbinism
Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...
--- albinism, ocular --- albinism, oculocutaneous --- hermanski-pudlak syndrome --- piebaldism
Piebaldism
Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead....
--- alkaptonuria
Alkaptonuria
Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
--- aminoaciduria, renal --- cystinuria
Cystinuria
Cystinuria is an inherited autosomal recessive disease that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder.-Signs and symptoms:Cystinuria is a cause of persistent kidney stones...
--- hartnup disease
Hartnup disease
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids...
--- carbamoyl-phosphate synthase i deficiency disease --- citrullinemia
Citrullinemia
Citrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood....
--- homocystinuria
Homocystinuria
Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase...
--- hyperargininemia --- hyperglycinemia, nonketotic --- hyperhomocysteinemia
Hyperhomocysteinemia
Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized by an abnormally large level of homocysteine in the blood....
--- hyperlysinemias --- maple syrup urine disease
Maple syrup urine disease
Maple syrup urine disease , also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia...
--- multiple carboxylase deficiency
Multiple carboxylase deficiency
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.The deficiency can be in biotinidase or holocarboxylase synthetase.These conditions respond to biotin.Forms include:...
--- biotinidase deficiency
Biotinidase deficiency
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency....
--- holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on...
--- ornithine carbamoyltransferase deficiency disease --- phenylketonurias --- phenylketonuria, maternal --- tyrosinemias --- amino acid transport disorders, inborn --- hartnup disease
Hartnup disease
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids...
--- oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets....
--- amyloidosis, familial --- amyloid neuropathies, familial --- cerebral amyloid angiopathy, familial --- brain diseases, metabolic, inborn --- abetalipoproteinemia
Abetalipoproteinemia
Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a deficiency of apolipoprotein B-48 and B-100, which are used in the synthesis and exportation of...
--- carbamoyl-phosphate synthase i deficiency disease --- cerebral amyloid angiopathy, familial --- citrullinemia
Citrullinemia
Citrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood....
--- fucosidosis
Fucosidosis
Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...
--- galactosemias --- glycogen storage disease type ii
Glycogen storage disease type II
Glycogen storage disease type II is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme...
--- hartnup disease
Hartnup disease
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids...
--- hepatolenticular degeneration --- homocystinuria
Homocystinuria
Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase...
--- hyperargininemia --- hyperglycinemia, nonketotic --- hyperlysinemias --- leigh disease --- lesch-nyhan syndrome
Lesch-Nyhan syndrome
Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
--- lysosomal storage diseases, nervous system --- fucosidosis
Fucosidosis
Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...
--- glycogen storage disease type ii
Glycogen storage disease type II
Glycogen storage disease type II is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme...
--- mucolipidoses --- sialic acid storage disease --- sphingolipidoses
Sphingolipidoses
-Accumulated products:* Gangliosides: Gangliosidosis** GM1 gangliosidoses** GM2 gangliosidoses*** Tay-Sachs disease*** Sandhoff disease* Glycolipids** Fabry's disease** Krabbe disease** Metachromatic leukodystrophy*Glucocerebrosides**Gaucher's disease...
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
Sandhoff disease
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
--- tay-sachs disease
Tay-Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder...
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- maple syrup urine disease
Maple syrup urine disease
Maple syrup urine disease , also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia...
--- melas syndrome --- menkes kinky hair syndrome --- merrf syndrome
MERRF syndrome
MERRF syndrome is a mitochondrial disease. It is extremely rare, with an estimated prevalence of 1/400,000 in Europe, and has varying degrees of expressivity owing to heteroplasmy-Presentation:...
--- mucolipidoses --- oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets....
--- ornithine carbamoyltransferase deficiency disease --- peroxisomal disorders --- adrenoleukodystrophy
Adrenoleukodystrophy
Adrenoleukodystrophy is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies, whose chief feature is damage to myelin...
--- refsum disease --- zellweger syndrome
Zellweger syndrome
Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder, characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies...
--- phenylketonurias --- phenylketonuria, maternal --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease --- sphingolipidoses
Sphingolipidoses
-Accumulated products:* Gangliosides: Gangliosidosis** GM1 gangliosidoses** GM2 gangliosidoses*** Tay-Sachs disease*** Sandhoff disease* Glycolipids** Fabry's disease** Krabbe disease** Metachromatic leukodystrophy*Glucocerebrosides**Gaucher's disease...
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
Sandhoff disease
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
--- tay-sachs disease
Tay-Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder...
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- tyrosinemias --- carbohydrate metabolism, inborn errors --- carbohydrate-deficient glycoprotein syndrome --- fructose metabolism, inborn errors --- fructose-1,6-diphosphatase deficiency --- fructose intolerance
Fructose intolerance
Hereditary fructose intolerance or fructose poisoning is a hereditary condition caused by a deficiency of liver enzymes that metabolise fructose...
--- fucosidosis
Fucosidosis
Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...
--- galactosemias --- glycogen storage disease
Glycogen storage disease
Glycogen storage disease is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism involved in these processes...
--- glycogen storage disease type i
Glycogen storage disease type I
Glycogen storage disease type I or von Gierke's disease, is the most common of the glycogen storage diseases. This genetic disease results from deficiency of the enzyme glucose-6-phosphatase. This deficiency impairs the ability of the liver to produce free glucose from glycogen and from...
--- glycogen storage disease type ii
Glycogen storage disease type II
Glycogen storage disease type II is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme...
--- glycogen storage disease type iib --- glycogen storage disease type iii
Glycogen storage disease type III
Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency in glycogen debranching enzymes....
--- glycogen storage disease type iv
Glycogen storage disease type IV
-Synonyms:It is also known as:-*Glycogenosis type IV,*Glycogen Branching Enzyme Deficiency ,*polyglucosan body disease.*Amylopectinosis-Human pathology:...
--- glycogen storage disease type v
Glycogen storage disease type V
Glycogen storage disease type V is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase. Its incidence is reported as 1 in 100,000, approximately the same as glycogen storage disease type I....
--- glycogen storage disease type vi
Glycogen storage disease type VI
Glycogen storage disease type VI is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system.It is also known as "Hers' disease", after Henri G...
--- glycogen storage disease type vii --- glycogen storage disease type viii --- hyperoxaluria, primary --- lactose intolerance
Lactose intolerance
Lactose intolerance, also called lactase deficiency or hypolactasia, is the inability to digest and metabolize lactose, a sugar found in milk...
--- mannosidase deficiency diseases --- alpha-mannosidosis
Alpha-mannosidosis
Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme alpha-D-mannosidase . In humans it is known to be caused by an autosomal recessive genetic mutation...
--- beta-mannosidosis
Beta-mannosidosis
Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a rare autosomal recessiveform of mannosidosis associated with MANBA....
--- mucolipidoses --- mucopolysaccharidoses --- mucopolysaccharidosis i --- mucopolysaccharidosis ii --- mucopolysaccharidosis iii --- mucopolysaccharidosis iv --- mucopolysaccharidosis vi
Mucopolysaccharidosis VI
Maroteaux–Lamy syndrome is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B...
--- mucopolysaccharidosis vii --- multiple carboxylase deficiency
Multiple carboxylase deficiency
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.The deficiency can be in biotinidase or holocarboxylase synthetase.These conditions respond to biotin.Forms include:...
--- biotinidase deficiency
Biotinidase deficiency
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency....
--- holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on...
--- pyruvate metabolism, inborn errors --- leigh disease --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease --- cytochrome-c oxidase deficiency --- glucosephosphate dehydrogenase deficiency --- hyperbilirubinemia, hereditary --- crigler-najjar syndrome
Crigler-Najjar syndrome
Crigler-Najjar Syndrome or CNS is a rare disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of blood. The disorder results in an inherited form of non-hemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in...
--- gilbert disease --- jaundice, chronic idiopathic --- lipid metabolism, inborn errors --- hypercholesterolemia, familial --- hyperlipidemia, familial combined --- hypercholesterolemia, familial --- hyperlipoproteinemia type iv --- hyperlipoproteinemia type iii --- hyperlipoproteinemia type iv --- hyperlipoproteinemia type v --- hypolipoproteinemia
Hypolipoproteinemia
Hypolipoproteinemia is defined as a lack of lipoprotein in the blood due to genetic or other diseases such as malnutrition and malabsorption.-Diagnosis:It can be diagnosed via blood study that identifies fat particles...
--- abetalipoproteinemia
Abetalipoproteinemia
Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a deficiency of apolipoprotein B-48 and B-100, which are used in the synthesis and exportation of...
--- hypobetalipoproteinemia
Hypobetalipoproteinemia
Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile. The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol....
--- lecithin acyltransferase deficiency --- tangier disease
Tangier disease
Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein , often referred to as "good cholesterol," in the bloodstream.-Diagnosis:...
--- lipoidosis --- cholesterol ester storage disease --- lipoidproteinosis --- neuronal ceroid-lipofuscinosis --- refsum disease --- sjogren-larsson syndrome
Sjögren-Larsson syndrome
Sjögren–Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth.-Causes:It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase"...
--- sphingolipidoses
Sphingolipidoses
-Accumulated products:* Gangliosides: Gangliosidosis** GM1 gangliosidoses** GM2 gangliosidoses*** Tay-Sachs disease*** Sandhoff disease* Glycolipids** Fabry's disease** Krabbe disease** Metachromatic leukodystrophy*Glucocerebrosides**Gaucher's disease...
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
Sandhoff disease
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
--- tay-sachs disease
Tay-Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder...
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- sea-blue histiocyte syndrome --- wolman disease
Wolman disease
Wolman Disease Wolman Disease Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain...
--- lipoprotein lipase deficiency, familial --- peroxisomal disorders --- acatalasia
Acatalasia
Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase.-Presentation:...
--- adrenoleukodystrophy
Adrenoleukodystrophy
Adrenoleukodystrophy is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies, whose chief feature is damage to myelin...
--- chondrodysplasia punctata, rhizomelic --- refsum disease --- zellweger syndrome
Zellweger syndrome
Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder, characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies...
--- smith-lemli-opitz syndrome
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome is an autosomal recessive metabolic and developmental congenital disorder that causes the inability to correctly produce or synthesize cholesterol due to a low occurrence of the 7-DHC reductace enzyme.-Symptoms:The signs and symptoms of SLOS syndrome vary widely...
--- xanthomatosis, cerebrotendinous --- lysosomal storage diseases --- cholesterol ester storage disease --- lysosomal storage diseases, nervous system --- fucosidosis
Fucosidosis
Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...
--- glycogen storage disease type ii
Glycogen storage disease type II
Glycogen storage disease type II is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme...
--- mucolipidoses --- sialic acid storage disease --- sphingolipidoses
Sphingolipidoses
-Accumulated products:* Gangliosides: Gangliosidosis** GM1 gangliosidoses** GM2 gangliosidoses*** Tay-Sachs disease*** Sandhoff disease* Glycolipids** Fabry's disease** Krabbe disease** Metachromatic leukodystrophy*Glucocerebrosides**Gaucher's disease...
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
Sandhoff disease
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
--- tay-sachs disease
Tay-Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder...
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- mannosidase deficiency diseases --- alpha-mannosidosis
Alpha-mannosidosis
Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme alpha-D-mannosidase . In humans it is known to be caused by an autosomal recessive genetic mutation...
--- beta-mannosidosis
Beta-mannosidosis
Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a rare autosomal recessiveform of mannosidosis associated with MANBA....
--- mucopolysaccharidoses --- mucopolysaccharidosis i --- mucopolysaccharidosis ii --- mucopolysaccharidosis iii --- mucopolysaccharidosis iv --- mucopolysaccharidosis vi
Mucopolysaccharidosis VI
Maroteaux–Lamy syndrome is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B...
--- mucopolysaccharidosis vii --- sphingolipidoses
Sphingolipidoses
-Accumulated products:* Gangliosides: Gangliosidosis** GM1 gangliosidoses** GM2 gangliosidoses*** Tay-Sachs disease*** Sandhoff disease* Glycolipids** Fabry's disease** Krabbe disease** Metachromatic leukodystrophy*Glucocerebrosides**Gaucher's disease...
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
Sandhoff disease
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
--- tay-sachs disease
Tay-Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder...
--- tay-sachs disease, ab variant --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- sea-blue histiocyte syndrome --- wolman disease
Wolman disease
Wolman Disease Wolman Disease Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain...
--- metal metabolism, inborn errors --- hemochromatosis --- hepatolenticular degeneration --- hypophosphatasia
Hypophosphatasia
Hypophosphatasia is a rare, and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous ranging from the rapidly fatal perinatal variant, with profound skeletal hypomineralization and respiratory compromise to a milder, progressive osteomalacia later in life...
--- hypophosphatemia, familial --- menkes kinky hair syndrome --- paralyses, familial periodic --- hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Hypokalemic periodic paralysis is a rare channelopathy characterized by muscle weakness or paralysis with a matching fall in potassium levels in the blood...
--- paralysis, hyperkalemic periodic --- pseudohypoparathyroidism
Pseudohypoparathyroidism
Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is actually appropriately high...
--- pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation...
--- porphyria, erythropoietic --- porphyrias, hepatic --- coproporphyria, hereditary --- porphyria, acute intermittent --- porphyria cutanea tarda
Porphyria cutanea tarda
Porphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
--- porphyria, hepatoerythropoietic --- porphyria, variegate --- protoporphyria, erythropoietic --- progeria
Progeria
Progeria is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word progeria comes from the Greek words "pro" , meaning "before", and "géras" , meaning "old age"...
--- purine-pyrimidine metabolism, inborn errors --- gout
Gout
Gout is a medical condition usually characterized by recurrent attacks of acute inflammatory arthritis—a red, tender, hot, swollen joint. The metatarsal-phalangeal joint at the base of the big toe is the most commonly affected . However, it may also present as tophi, kidney stones, or urate...
--- arthritis, gouty --- lesch-nyhan syndrome
Lesch-Nyhan syndrome
Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
--- renal tubular transport, inborn errors --- acidosis, renal tubular --- aminoaciduria, renal --- cystinuria
Cystinuria
Cystinuria is an inherited autosomal recessive disease that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder.-Signs and symptoms:Cystinuria is a cause of persistent kidney stones...
--- hartnup disease
Hartnup disease
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids...
--- cystinosis
Cystinosis
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group...
--- fanconi syndrome
Fanconi syndrome
Falconi syndrome is a disease of the proximal renal tubules of the kidney in which glucose, amino acids, uric acid, phosphate and bicarbonate are passed into the urine, instead of being reabsorbed. Fanconi syndrome affects the proximal tubule, which is the first part of the tubule to process fluid...
--- glycosuria, renal --- hypophosphatemia, familial --- oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets....
--- pseudohypoaldosteronism
Pseudohypoaldosteronism
Pseudohypoaldosteronism is a condition that mimics hypoaldosteronism. However, the condition is due to a failure of response to aldosterone, and levels of aldosterone are actually elevated, due to a lack of feedback....
--- steroid metabolism, inborn errors --- adrenal hyperplasia, congenital --- mineralocorticoid excess syndrome, apparent --- ichthyosis, x-linked --- smith-lemli-opitz syndrome
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome is an autosomal recessive metabolic and developmental congenital disorder that causes the inability to correctly produce or synthesize cholesterol due to a low occurrence of the 7-DHC reductace enzyme.-Symptoms:The signs and symptoms of SLOS syndrome vary widely...
--- mitochondrial diseases
--- cytochrome-c oxidase deficiency --- friedreich ataxia --- optic atrophy, hereditary, leber --- leigh disease --- mitochondrial myopathies --- mitochondrial encephalomyopathies --- melas syndrome --- merrf syndromeMERRF syndrome
MERRF syndrome is a mitochondrial disease. It is extremely rare, with an estimated prevalence of 1/400,000 in Europe, and has varying degrees of expressivity owing to heteroplasmy-Presentation:...
--- ophthalmoplegia, chronic progressive external --- kearns-sayer syndrome --- optic atrophy, autosomal dominant --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease
--- phosphorus metabolism disorders
--- hypophosphatemiaHypophosphatemia
Hypophosphatemia is an electrolyte disturbance in which there is an abnormally low level of phosphate in the blood. The condition has many causes, but is most commonly seen when malnourished patients are given large amounts of carbohydrates, which creates a high phosphorus demand by cells,...
--- skin diseases, metabolic
--- adiposis dolorosaAdiposis dolorosa
Adiposis dolorosa, also known as Dercum's Disease is a rare condition characterized by multiple, painful lipomas. These lipomas mainly occur on the trunk, the upper arms and upper legs. The diagnosis of Dercum's disease implies a long, chronic pain syndrome of debilitating nature...
--- porphyrias --- porphyria, erythropoietic --- porphyrias, hepatic --- coproporphyria, hereditary --- porphyria, acute intermittent --- porphyria cutanea tarda
Porphyria cutanea tarda
Porphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
--- porphyria, hepatoerythropoietic --- porphyria, variegate --- protoporphyria, erythropoietic --- xanthogranuloma, juvenile --- xanthomatosis --- wolman disease
Wolman disease
Wolman Disease Wolman Disease Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain...
--- xanthomatosis, cerebrotendinous
--- wasting syndrome
--- hiv wasting syndrome--- water-electrolyte imbalance
--- dehydrationDehydration
In physiology and medicine, dehydration is defined as the excessive loss of body fluid. It is literally the removal of water from an object; however, in physiological terms, it entails a deficiency of fluid within an organism...
--- hypercalcemia --- hyperkalemia
Hyperkalemia
Hyperkalemia refers to the condition in which the concentration of the electrolyte potassium in the blood is elevated...
--- hypernatremia
Hypernatremia
Hypernatremia or hypernatraemia is an electrolyte disturbance that is defined by an elevated sodium level in the blood. Hypernatremia is generally not caused by an excess of sodium, but rather by a relative deficit of free water in the body...
--- hypocalcemia --- hypokalemia
Hypokalemia
Hypokalemia or hypokalaemia , also hypopotassemia or hypopotassaemia , refers to the condition in which the concentration of potassium in the blood is low...
--- hyponatremia
Hyponatremia
Hyponatremia is an electrolyte disturbance in which the sodium concentration in the serum is lower than normal. In the vast majority of cases, hyponatremia occurs as a result of excess body water diluting the serum sodium and is not due to sodium deficiency. Sodium is the dominant extracellular...
--- inappropriate adh syndrome --- water intoxication
Water intoxication
Water intoxication, also known as water poisoning, is a potentially fatal disturbance in brain functions that results when the normal balance of electrolytes in the body is pushed outside of safe limits by over-consumption of water....
--- infant nutrition disorders
--- hemorrhagic disease of newborn --- malnutritionMalnutritionMalnutrition is the condition that results from taking an unbalanced diet in which certain nutrients are lacking, in excess , or in the wrong proportions....
--- deficiency diseases --- avitaminosisAvitaminosis
Avitaminosis is any disease caused by chronic or long-term vitamin deficiency or caused by a defect in metabolic conversion, such as tryptophan to niacin...
--- ascorbic acid deficiency --- scurvy
Scurvy
Scurvy is a disease resulting from a deficiency of vitamin C, which is required for the synthesis of collagen in humans. The chemical name for vitamin C, ascorbic acid, is derived from the Latin name of scurvy, scorbutus, which also provides the adjective scorbutic...
--- vitamin a deficiency
Vitamin A deficiency
Vitamin A deficiency is a lack of vitamin A in humans. It is common in developing countries but rarely seen in developed countries. Night blindness is one of the first signs of vitamin A deficiency. Xerophthalmia and complete blindness can also occur since Vitamin A has a major role in...
--- vitamin b deficiency --- choline deficiency --- folic acid deficiency --- pellagra
Pellagra
Pellagra is a vitamin deficiency disease most commonly caused by a chronic lack of niacin in the diet. It can be caused by decreased intake of niacin or tryptophan, and possibly by excessive intake of leucine. It may also result from alterations in protein metabolism in disorders such as carcinoid...
--- riboflavin deficiency --- thiamine deficiency --- beriberi
Beriberi
Beriberi is a nervous system ailment caused by a thiamine deficiency in the diet. Thiamine is involved in the breakdown of energy molecules such as glucose and is also found on the membranes of neurons...
--- wernicke encephalopathy --- vitamin b 6 deficiency --- vitamin b 12 deficiency --- anemia, pernicious --- vitamin d deficiency --- osteomalacia
Osteomalacia
Osteomalacia is the softening of the bones caused by defective bone mineralization secondary to inadequate amounts of available phosphorus and calcium, or because of overactive resorption of calcium from the bone as a result of hyperparathyroidism...
--- rickets
Rickets
Rickets is a softening of bones in children due to deficiency or impaired metabolism of vitamin D, magnesium , phosphorus or calcium, potentially leading to fractures and deformity. Rickets is among the most frequent childhood diseases in many developing countries...
--- vitamin e deficiency
Vitamin E deficiency
-Presentation:Signs of vitamin E deficiency include neuromuscular problems such as spinocerebellar ataxia and myopathies. Other neurological signs may include dysarthria, absence of deep tendon reflexes, loss of vibratory sensation and proprioception, and positive Babinski sign.Deficiency can also...
--- steatitis --- vitamin k deficiency
Vitamin K deficiency
Vitamin K deficiency is a form of avitaminosis resulting from insufficient vitamin K.-Causes:Vitamin K-deficiency may occur by disturbed intestinal uptake , by therapeutic or accidental intake of vitamin K-antagonists or, very rarely, by nutritional vitamin K deficiency...
--- hemorrhagic disease of newborn --- magnesium deficiency
Magnesium deficiency
Magnesium deficiency is a detrimental plant disorder that occurs most often in strongly acidic, light, sandy soils, where magnesium can be easily leached away. Magnesium is an essential macronutrient found from 0.2-0.4% dry matter and is necessary for normal plant growth...
--- potassium deficiency
Potassium deficiency
Potassium deficiency has two different contexts:*For the medical condition in humans, see hypokalemia*Potassium deficiency , the disease in plants...
--- protein deficiency --- protein-energy malnutrition
Protein-energy malnutrition
Protein-energy malnutrition refers to a form of malnutrition where there is inadequate protein intake.Types include:* Kwashiorkor...
--- kwashiorkor
Kwashiorkor
Kwashiorkor is an acute form of childhood protein-energy malnutrition characterized by edema, irritability, anorexia, ulcerating dermatoses, and an enlarged liver with fatty infiltrates. The presence of edema caused by poor nutrition defines kwashiorkor...
--- swayback --- fetal nutrition disorders --- starvation
Starvation
Starvation is a severe deficiency in caloric energy, nutrient and vitamin intake. It is the most extreme form of malnutrition. In humans, prolonged starvation can cause permanent organ damage and eventually, death...
--- overnutritionOvernutritionOvernutrition is a form of malnutrition in which nutrients are oversupplied relative to the amounts required for normal growth, development, and metabolism...
--- obesityObesity
Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health, leading to reduced life expectancy and/or increased health problems...
--- obesity hypoventilation syndrome --- obesity, morbid --- prader-willi syndrome
Prader-Willi syndrome
Prader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...