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8(9)-Cholestenol is one of the precursors to cholesterol in the cholesterol biosynthetic pathway. Elevation of 8(9)-cholestenol is the primary marker for X-linked dominant chondrodysplasia punctata 2 (CDPX2), also known as Conradi Hunermann Happle syndrome, a rare disorder associated with abnormal punctate calcification of cartilaginous structures in an asymmetric pattern, scoliosis, congenital hip dislocation, skeletal disease, and characteristic skin lesions. The disorder is usually lethal in affected males and has variable manifestations in affected females. CDPX2 is caused by a mutation in the EDP gene, which encodes cholestenol delta-isomerase, the enzyme that metabolizes 8(9)-cholestenol. PMID: 23798009 Source: Regenstrief LOINC, PMID: 23798009

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Tag Language Translation
zh-CN Chinese (China) 8(9)-胆甾烯醇
Synonyms: 8(9)-胆甾醇烯醇
es-ES Spanish (Spain) 8(9)-Colestenol
it-IT Italian (Italy) 8(9) Colestenolo
tr-TR Turkish (Turkey) 8(9)-kolestenol
nl-NL Dutch (Netherlands) 8(9)-cholestenol
pl-PL Polish (Poland) 8(9)-cholestenol