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X-gebonden dominante chondrodysplasia punctata (aandoening)
X-gebonden dominante chondrodysplasia punctata
X-gebonden dominante dyschondroplasia punctata
Chondrodysplasia punctata, X-linked dominant type
Conradi H√ľnermann Happle syndrome
Happle syndrome
Chondrodystrophia calcificans congenita
X-linked chondrodysplasia punctata type 2
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.
Id398958000
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map35173
SNOMED CT to ICD-10 extended map
TargetQ77.3
RuleTRUE
AdviceALWAYS Q77.3
CorrelationSNOMED CT source code to target map code correlation not specified