IEMbase 0182: CYP7A1-related cholesterol 7alpha-hydroxylase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 182 |
| Nosology | 14.8.1.01 |
| Gene | CYP7A1 |
| External IDs | OMIM:118455; ORPHA:209902 |
| Generated mapping | CANDIDATE; Inborn_Disorder_of_Bile_Acid_Synthesis.yaml#BASD Type 3 |
| Candidate DisMech targets | None valid; generated BASD type 3 candidate is false |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as CYP7A1-related cholesterol 7alpha-hydroxylase deficiency, with CYP7A1 as the alternate label. Treatability is marked unknown.
The IEMbase signal is sparse compared with adjacent bile acid synthesis records. The biochemical row reports adult statin-resistant hyperlipidemia as characteristic. The clinical row reports variable adult gallstones. No treatment rows are listed.
DisMech phenotype coverage
No valid local CYP7A1 disease target was found. The generated candidate,
Inborn_Disorder_of_Bile_Acid_Synthesis.yaml#BASD Type 3, is not correct
because BASD type 3 is CYP7B1-related oxysterol 7alpha-hydroxylase deficiency.
Local CYP7A1 mentions are pathway or context mentions rather than a standalone
CYP7A1-related cholesterol 7alpha-hydroxylase deficiency entry.
Concordance and completeness
Judgement: generated false positive; true local disease gap.
The lexical similarity between CYP7A1 cholesterol 7alpha-hydroxylase deficiency and CYP7B1 oxysterol 7alpha-hydroxylase deficiency is misleading. IEMbase describes an adult dyslipidemia and gallstone phenotype, not the infantile cholestasis and later spastic paraplegia phenotype modeled under BASD type 3.
Curation actions
- Do not map this record to BASD type 3.
- Add a future standalone CYP7A1-related cholesterol 7alpha-hydroxylase deficiency target if this disease is in scope.
- Seed that future entry with statin-resistant hyperlipidemia, gallstones, and CYP7A1/cholesterol 7alpha-hydroxylase identity.