IEMbase 0183: CYP27A1-related cerebrotendinous xanthomatosis
Scope
| Field | Value |
|---|---|
| IEMbase ID | 183 |
| Nosology | 14.8.04.02 |
| Gene | CYP27A1 |
| External IDs | OMIM:213700; ORPHA:909 |
| Generated mapping | MAPPED; Cerebrotendinous_Xanthomatosis.yaml |
| Candidate DisMech targets | Cerebrotendinous_Xanthomatosis.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as CYP27A1-related sterol 27-hydroxylase deficiency, with alternate labels cerebrotendinous xanthomatosis, Van Bogaert-Scherer-Epstein disease, and CTX. Treatability is marked yes.
The biochemical rows include positive CYP27A1 sequencing, decreased fibroblast 27-hydroxylase activity, normal-to-increased serum cholesterol, liver pigment granules, increased urinary cholestane pentol glucuronide, increased plasma cholestanol from infancy onward, and low-to-normal 25-OH vitamin D. Clinical rows cover neonatal or childhood jaundice, diarrhea, cataract, tendon xanthomas, developmental delay, dementia, dysphasia, ataxia, demyelination, abnormal evoked potentials, neuropathy, pyramidal signs, spastic paresis, seizures, regression, parkinsonism, spinal cord myelopathy, pes cavus, osteoporosis, gallstones, adrenal insufficiency, thyroid or hypothalamic-pituitary dysfunction, angina, ischemic heart disease, myocardial infarction, and respiratory failure. The treatment row lists chenodeoxycholic acid.
DisMech phenotype coverage
Cerebrotendinous_Xanthomatosis.yaml is the correct target. The local entry
covers CYP27A1/sterol 27-hydroxylase deficiency, reduced chenodeoxycholic acid,
cholestanol and bile alcohol accumulation, chronic diarrhea, neonatal
cholestasis, juvenile cataracts, tendon xanthomas, progressive neurologic
dysfunction, peripheral neuropathy, pyramidal and cerebellar signs,
psychiatric features, seizures, chenodeoxycholic acid, cholic acid as an
alternative, possible statin adjunct therapy, and supportive care.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on the disease identity, CYP27A1 enzyme defect, cholestanol/bile alcohol accumulation, early diarrhea or cholestasis, cataracts, tendon xanthomas, progressive neurologic disease, seizures, and chenodeoxycholic acid treatment. IEMbase adds granular cholestane pentol glucuronide, fibroblast enzyme testing, liver pigment granules, endocrine findings, gallstones, cardiovascular complications, osteoporosis, and respiratory failure as possible enrichment targets.
Curation actions
- Keep this record mapped to
Cerebrotendinous_Xanthomatosis.yaml. - Consider adding urinary cholestane pentol glucuronide and fibroblast 27-hydroxylase activity as diagnostic detail.
- Review endocrine, cardiovascular, gallstone, and osteoporosis complications for possible CTX enrichment.