SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/398958000
http://purl.bioontology.org/ontology/SNOMEDCT/398958000
Preferred Name

Chondrodysplasia punctata, X-linked dominant type

Definitions
A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyses the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues. A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues.
Synonyms
Happle syndrome
Chondrodysplasia punctata, X-linked dominant type (disorder)
Chondrodystrophia calcificans congenita
Conradi Hünermann Happle syndrome
X-linked chondrodysplasia punctata type 2
Type http://www.w3.org/2002/07/owl#Class
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