ORPHA:79303
Congenital bile acid synthesis defect type 2
Synonyms: BASD2 · Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital bile acid synthesis defect type 2 | BASD2 · Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency |
| fr | Déficit congénital de synthèse des acides biliaires type 2 | Cholestase par déficit en delta(4)-3-oxostéroïde 5-bêta-reductase · DSAB2 |
| de | Gallensäuresynthesedefekt, kongenitaler, Typ 2 | BASD2 · Cholestase mit delta(4)-3-Oxosteroid 5-beta-Reduktase-Mangel |
| es | Defecto congénito de la síntesis de ácidos biliares tipo 2 | BASD2 · Colestasis con deficiencia de delta(4)-3-oxosteroide 5-beta-reductasa |
| it | Difetto congenito della sintesi degli acidi biliari, tipo 2 | |
| nl | Congenitaal defect van galzuursynthese type 2 | BASD2 · Cholestase met deficiëntie van delta(4)-3-oxosteroïd 5-bèta-reductase |
| pt | Defeito congénito da síntese de ácidos biliares tipo 2 | BASD2 · Colestase com deficiência de delta(4)-3-oxoesteroide 5-beta-reductase |
| pl | Wrodzony defekt syntezy kwasów żółciowych typu 2 | BASD2 · Cholestaza z niedoborem delta(4)-3-oksosteroido 5-beta-reduktazy |
| cs | Vrozený defekt syntézy žlučových kyselin, typ 2 | Cholestáza, s deficitem delta(4)-3-oxosteroid-5-beta-reduktázy |
| uk | Вроджений дефект синтезу жовчних кислот, тип 2 | BASD2 · Холестаз при дефіциті дельта(4)-3-оксостероїдної 5-бета-редуктази |
| zh | 先天性胆汁酸合成缺陷3型 | 胆汁淤积伴δ（4）-3-酮基-5-β-还原酶缺乏 |
| tr | Doğumsal safra asidi sentez bozukluğu tip 2 | BASD2 · Delta (4) -3-oksosteroid 5-beta-redüktaz eksikliği ile seyreden kolestaz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235555 | E | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.11 | NTBT | index | validated |
| MONDO | 0009339 | E | validated | |
| MeSH | C535443 | E | validated | |
| UMLS | C1856127 | E | validated | |
| GARD | 10045 | 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 |
|---|---|---|---|---|---|---|---|---|
| AKR1D1 | Disease-causing germline mutation(s) in | Assessed | HGNC:388 | ENSG00000122787 | 604741 | 7q33 | aldo-keto reductase family 1 member D1 | 12970144[PMID] |
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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
27 annotations · validated 2021-11-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0200084 | Giant cell hepatitis | |
| HP:0002904 | Hyperbilirubinemia | |
| Frequent (79-30%) | ||
| HP:0030984 | Abnormal serum bile acid concentration | |
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0001396 | Cholestasis | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0040319 | Dark urine | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001978 | Extramedullary hematopoiesis | |
| HP:0001508 | Failure to thrive | |
| HP:0002630 | Fat malabsorption | |
| HP:0001399 | Hepatic failure | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0000952 | Jaundice | |
| HP:0100513 | Low levels of vitamin E | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0002570 | Steatorrhea | |
| Occasional (29-5%) | ||
| HP:0011040 | Abnormality of the intrahepatic bile duct | |
| HP:0000107 | Renal cyst | |
| HP:0002748 | Rickets | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 3198770[PMID]_12970144[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79303
- This record as JSON: /data/d/79303.json