X-linked recessive chondrodysplasia punctata
Encyclopedia
X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata
that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.
It has been associated with arylsulfatase E
.
Chondrodysplasia punctata
Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Conradi, that share the features of stippled epiphyses and skeletal changes.Types include:* Rhizomelic chondrodysplasia punctata , ,...
that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.
It has been associated with arylsulfatase E
Arylsulfatase E
Arylsulfatase E also known as ARSE is an enzyme that, in humans, is encoded by the ARSE gene.- Function :Arylsulfatase E is a member of the arylsulfatase subfamily of sulfatase enzymes that catalyze the hydrolysis of sulfate esters. It is glycosylated postranslationally and localized to the golgi...
.