ORPHA:79302
Congenital bile acid synthesis defect type 3
Synonyms: BASD3 · Oxysterol 7-alpha-hydroxylase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital bile acid synthesis defect type 3 | BASD3 · Oxysterol 7-alpha-hydroxylase deficiency |
| fr | Déficit congénital de synthèse des acides biliaires type 3 | DSAB3 · Déficit en oxystérol 7-alpha-hydroxylase |
| de | Gallensäuresynthesedefekt, kongenitaler, Typ 3 | BASD3 · Oxysterol 7-alpha-Hydroxylase-Mangel |
| es | Defecto congénito de la síntesis de ácidos biliares tipo 3 | BASD3 · Deficiencia de oxiesterol 7-alfa-hidroxilasa |
| it | Difetto congenito della sintesi degli acidi biliari, tipo 3 | |
| nl | Congenitaal defect van galzuursynthese type 3 | BASD3 · Deficiëntie van oxysterol 7-alfa-hydroxylase |
| pt | Defeito congénito da síntese de ácidos biliares tipo 3 | BASD3 · Deficiência de oxiesterol 7-alfa-hidroxilase |
| pl | Wrodzony defekt syntezy kwasów żółciowych typu 3 | BASD3 · Niedobór 7-alfa-hydroksylazy oksysterolowej |
| cs | Vrozený defekt syntézy žlučových kyselin, typ 3 | Deficit oxysterol-7-alfa-hydroxylázy |
| uk | Вроджений дефект синтезу жовчних кислот, тип 3 | BASD3 · Дефіцит оксистерол-7-альфа-гідроксилази |
| zh | 先天性胆汁酸合成缺陷2型 | 氧固醇7-α-羟化酶缺乏症 |
| tr | Doğumsal safra asidi sentez bozukluğu tip 3 | BASD3 · Oksisterol 7-alfa-hidroksilaz eksikliği |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613812 | E | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.11 | NTBT | index | validated |
| MONDO | 0013439 | E | validated | |
| MeSH | C566340 | E | validated | |
| UMLS | C4304715 | 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:485631Congenital bile acid synthesis defect
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP7B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2652 | ENSG00000172817 | 603711 | 8q12.3 | cytochrome P450 family 7 subfamily B member 1 | 9802883[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 9802883[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9802883[PMID] |
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
12 annotations · validated 2021-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0100508 | Abnormality of vitamin metabolism | |
| HP:0001408 | Bile duct proliferation | |
| HP:0001396 | Cholestasis | |
| HP:0001394 | Cirrhosis | |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration | |
| HP:0002630 | Fat malabsorption | |
| HP:0001399 | Hepatic failure | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0000952 | Jaundice | |
Annotation source: 17682975[PMID]_18367963[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79302
- This record as JSON: /data/d/79302.json