IEMbase 0195: DHCR24-related desmosterolosis
Scope
| Field | Value |
|---|---|
| IEMbase ID | 195 |
| Nosology | 14.7.13.01 |
| Gene | DHCR24 |
| External IDs | OMIM:602398; ORPHA:35107 |
| Generated mapping | UNMAPPED; best candidate Congenital_Adrenal_Hyperplasia.yaml#3B-HSD |
| Candidate DisMech targets | None valid; CAH 3B-HSD candidate is false |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as DHCR24-related desmosterolosis, with alternate labels desmosterol reductase deficiency, 3beta-hydroxysterol-delta24-reductase deficiency, and DHCR24 deficiency. Treatability is marked unknown.
The biochemical row reports increased plasma desmosterol in neonatal, infancy, and childhood periods. Characteristic clinical rows include agenesis and hypogenesis of the corpus callosum. Additional rows include anomalous pulmonary venous return, cerebral cortical malformations, cleft palate, clubfoot, facial dysmorphism, intellectual disability, macrocephaly or microcephaly, micrognathia, neonatal osteosclerosis, patent ductus arteriosus, pulmonary hypoplasia, renal agenesis or hypoplasia, rhizomesomelia, and ventriculomegaly. No treatment rows are listed.
DisMech phenotype coverage
No valid local DHCR24/desmosterolosis target was found. The generated candidate under congenital adrenal hyperplasia is a lexical false positive driven by 3beta-HSD wording; CAH 3B-HSD is HSD3B2 steroidogenesis disease, not DHCR24 cholesterol-biosynthesis disease.
Concordance and completeness
Judgement: true local disease gap; generated CAH candidate is false.
IEMbase defines a distinct sterol-biosynthesis malformation disorder with desmosterol accumulation, corpus callosum defects, brain malformations, heart and pulmonary anomalies, cleft palate, limb/skeletal findings, renal defects, and developmental impairment. No current local entry captures this DHCR24 disease.
Curation actions
- Do not map this record to congenital adrenal hyperplasia 3B-HSD.
- Add a future DHCR24/desmosterolosis entry if this sterol-biosynthesis disorder is in scope.
- Seed that entry with plasma desmosterol, corpus callosum agenesis/hypogenesis, cortical malformations, pulmonary venous return and PDA rows, pulmonary hypoplasia, renal anomalies, rhizomesomelia, and ventriculomegaly.