ORPHA:276066
Bile acid CoA ligase deficiency and defective amidation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bile acid CoA ligase deficiency and defective amidation | |
| fr | Insuffisance en acides biliaires-CoA ligase et défaut d'amidation | |
| de | Gallensäuren-CoA-Ligase-Mangel - Amidierungs-Defekt | |
| es | Deficiencia de ácido biliar CoA ligasa y amidación defectuosa | |
| it | Deficit di CoA ligasi degli acidi biliari e difetto dell'amidazione | |
| nl | Deficiëntie van galzuur-CoA-ligase en defect van amidatie | |
| pt | Deficiência de CoA ligase biliar e defeito da síntese de amidas | |
| pl | Niedobór i wadliwa amidacja ligazy kwas tłuszczowy:CoA | |
| cs | Deficit cholát-CoA ligázy a porucha amidace | Porucha amidace žlučových kyselin |
| uk | Дефіцит КоА-лігази жовчних кислот і дефектне амідування | |
| zh | 胆汁酸辅酶A连接酶缺乏和酰胺化缺陷 | |
| tr | Safra asidi CoA ligaz eksikliği ve defektif amidasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.11 | NTBT | attributed | validated |
| MONDO | 0017165 | E | validated | |
| UMLS | C4274079 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:163631Bile acid synthesis defect with cholestasis and malabsorption
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276066
- This record as JSON: /data/d/276066.json