Biliary atresia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EHBA Non-syndromic biliary atresia Atresia of bile ducts |
| Number of Symptoms | 17 |
| OrphanetNr: | 30391 |
| OMIM Id: |
210500
|
| ICD-10: |
Q44.2 |
| UMLs: |
C0005411 |
| MeSH: |
D001656 |
| MedDRA: |
10003650 |
| Snomed: |
77480004 |
Prevalence, inheritance and age of onset:
| Prevalence: | 2.9 of 100 000 [Orphanet] |
| Inheritance: |
Multifactorial [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic visceral malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Rare biliary tract disease -Rare hepatic disease |
Symptom Information:
|
|
(HPO:0011984) | Atretic gallbladder | 1 / 7739 | ||||
|
|
(HPO:0002910) | Elevated hepatic transaminases | 158 / 7739 | ||||
|
|
(HPO:0001408) | Bile duct proliferation | 22 / 7739 | ||||
|
|
(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
|
|
(HPO:0006580) | Portal fibrosis | 10 / 7739 | ||||
|
|
(HPO:0000952) | Jaundice | 105 / 7739 | ||||
|
|
(HPO:0005242) | Extrahepatic biliary duct atresia | 9 / 7739 | ||||
|
|
(HPO:0001394) | Cirrhosis | 102 / 7739 | ||||
|
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(HPO:0011985) | Acholic stools | 6 / 7739 | ||||
|
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(HPO:0003573) | Increased total bilirubin | 10 / 7739 | ||||
|
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(HPO:0008282) | Unconjugated hyperbilirubinemia | 9 / 7739 | ||||
|
|
(OMIM) | Fibrotic extrahepatic bile ducts | 1 / 7739 | ||||
|
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(OMIM) | Bile duct plugging | 1 / 7739 | ||||
|
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(OMIM) | Increased indirect bilirubin | 1 / 7739 | ||||
|
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(OMIM) | Liver biopsy shows portal and/or bridging fibrosis | 1 / 7739 | ||||
|
|
(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
|
|
(HPO:0003676) | Progressive disorder | 148 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic ... |
| Clinical Description OMIM |
Krauss (1964) noted the reports of 5 sibships in which 2 or more sibs had extrahepatic biliary atresia. Renal and cardiac malformations were associated in Krauss's cases. Sweet (1932) found 3 cases in 1 family; 2 of the ... |
| Population genetics OMIM |
Biliary atresia has an incidence of approximately 1 in 10,000 live births worldwide (Bates et al., 1998). Tiao et al. (2008) reported that the peak incidence of biliary atresia in Taiwan occurred in 2002 (1.90 per ... |