Disorder of bile acid synthesis
- Type
- Category
- Group
- Group of disorders
- Age of onset
- All ages
- Status
- active
A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disorder of bile acid synthesis | |
| fr | Anomalie de la synthèse des acides biliaires | |
| de | Gallensäuresynthesedefekt | |
| es | Anomalía en la síntesis de ácidos biliares | |
| it | Malattia della sintesi degli acidi biliari | |
| nl | Aandoening van galzuursynthese | |
| pt | doença da síntese de ácidos biliares | |
| pl | Zaburzenie syntezy kwasóe żółciowych | |
| cs | Poruchy syntézy žlučových kyselin | |
| uk | Порушення синтезу жовчних кислот | |
| zh | 胆汁酸合成异常 | |
| tr | Safra asidi sentezi bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019218 | E | validated | |
| MONDO | 19218 | E | validated | |
| UMLS | C0400973 | E | validated | |
| MedDRA | 10088265 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79226Sterol metabolism disorder
rare inborn errors of metabolism; rare genetic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.6 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79168
- This record as JSON: /data/d/79168.json