ORPHA:79301
Congenital bile acid synthesis defect type 1
Synonyms: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency · BASD1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital bile acid synthesis defect type 1 | 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency · BASD1 |
| fr | Déficit congénital de synthèse des acides biliaires type 1 | Déficit en 3-bêta-hydroxy-delta-5-C27-steroïde oxydoréductase · DSAB1 |
| de | Gallensäuresynthesedefekt, kongenitaler, Typ 1 | 3-beta-Hydroxy-Delta-5-C27-Steroid-Oxidoreduktase-Mangel · BASD1 |
| es | Defecto congénito de la síntesis de ácidos biliares tipo 1 | BASD1 · Deficiencia de 3-beta-hidroxi-delta-5-C27-esteroide oxidorreductasa |
| it | Difetto congenito della sintesi degli acidi biliari, tipo 1 | |
| nl | Congenitaal defect van galzuursynthese type 1 | BASD1 · Deficiëntie van 3-bèta-hydroxy-delta-5-C27-steroïd-oxidoreductase |
| pt | Defeito congénito da síntese de ácidos biliares tipo 1 | BASD1 · Deficiência de 3-beta-hidroxi-delta-5-C27-esteroide oxidoreductase |
| pl | Wrodzony defekt syntezy kwasów żółciowych typu 1 | BASD1 · Niedobór oksydoreduktazy 3-beta-hydroksy-delta-5-C27-steroidowej |
| cs | Vrozený defekt syntézy žlučových kyselin, typ 1 | Deficit 3-beta-hydroxy-delta-5-C27-steroid-oxidoreduktázy |
| uk | Вроджений дефект синтезу жовчних кислот, тип 1 | Дефіцит 3-бета-гідрокси-дельта-5-С27-стероїдооксидоредуктази · BASD1 |
| zh | 先天性胆汁酸合成缺陷1型 | 3-β-羟基-δ-5-C27-类固醇氧化还原酶缺乏症 |
| tr | Doğumsal safra asidi sentez bozukluğu tip 1 | BASD1 · 3-beta-hidroksi-delta-5-C27-steroid oksidoredüktaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607765 | E | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.11 | NTBT | index | validated |
| MONDO | 0011906 | E | validated | |
| MeSH | C535442 | E | validated | |
| UMLS | C1843116 | E | validated | |
| GARD | 9813 | 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSD3B7 | Disease-causing germline mutation(s) in | Assessed | HGNC:18324 | ENSG00000099377 | 607764 | 16p11.2 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | 12679481[PMID] |
5
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.
6
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001080 | Biliary tract abnormality | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0002240 | Hepatomegaly | |
| HP:0000952 | Jaundice | |
| HP:0002024 | Malabsorption | |
| HP:0006566 | Neonatal cholestatic liver disease | |
| Frequent (79-30%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001394 | Cirrhosis | |
| HP:0000662 | Nyctalopia | |
| HP:0000939 | Osteoporosis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000989 | Pruritus | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79301
- This record as JSON: /data/d/79301.json