ORPHA:30391
Isolated biliary atresia
Synonyms: Isolated atresia of bile ducts · Non-syndromic biliary atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated biliary atresia | Isolated atresia of bile ducts · Non-syndromic biliary atresia |
| fr | Atrésie des voies biliaires isolée | |
| de | Gallengangatresie, isolierte | Gallengangatresie, nicht-syndromale · Isolierte Atresie der Gallengänge |
| es | Atresia biliar aislada | Atresia biliar no sindrómica · Atresia de vías biliares |
| it | Atresia biliare isolata | Atresia biliare non sindromica · Atresia dei dotti biliari |
| nl | Geïsoleerde biliaire atresie | Geïsoleerde atresie van galwegen · Geïsoleerde galgangatresie · Niet-syndromale biliaire atresie |
| pt | Atresia biliar isolada | Atresia biliar não sindrómica · Atresia dos ductos biliares isolada |
| pl | Atrezja dróg żółciowych | Atrezja przewodów żółciowych · Niesyndromiczna obustronna atrezja dróg żółciowych |
| cs | Biliární atrézie | Nesyndromická biliární atrézie · Atrézie žlučových cest |
| uk | Ізольована біліарна атрезія | Ізольована атрезія жовчних проток · Несиндромна біліарна атрезія |
| zh | 孤立型胆道闭锁 | 孤立型胆管闭锁 |
| tr | İzole biliyer atrezi | Sendromik olmayan biliyer atrezi · Safra kanallarının izole atrezisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210500 | E | validated | |
| ICD-10 | Q44.2 | E | specific | validated |
| ICD-11 | LB20.21 | E | specific | validated |
| MONDO | 0008867 | E | validated | |
| MeSH | D001656 | E | validated | |
| UMLS | C0005411 | E | validated | |
| GARD | 12010 | E | validated | |
| MedDRA | 10004654 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:498345Biliary atresia and associated disorders
rare hepatic diseases - ORPHA:108971Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
18 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7 / 100 000 | Australia | Value and class | Validated | 559475[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.6 / 100 000 | Specific population | Value and class | Validated | 4824812[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.9 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.9 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.9 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.9 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.2 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 16.6 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 12.6 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.3 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 12.7 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 18.5 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 7.4 / 100 000 | Japan | Value and class | Validated | Japanese biliary atresia OTHERistry[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7 / 100 000 | United States | Value and class | Not yet validated | 9041292[PMID]_7069535[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 32 / 100 000 | French Polynesia | Value and class | Validated | 7987462[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.
6
HPO phenotypes
28 annotations · validated 2019-09-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001396 | Cholestasis | |
| HP:0001508 | Failure to thrive | |
| HP:0000952 | Jaundice | |
| Frequent (79-30%) | ||
| HP:0011985 | Acholic stools | |
| HP:0011984 | Atretic gallbladder | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0040321 | Dark yellow urine | |
| HP:0001410 | Decreased liver function | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0002630 | Fat malabsorption | |
| HP:0002240 | Hepatomegaly | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0001525 | Severe failure to thrive | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001408 | Bile duct proliferation | |
| HP:0001394 | Cirrhosis | |
| HP:0040075 | Hypopituitarism | |
| HP:0000821 | Hypothyroidism | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0001405 | Periportal fibrosis | |
| HP:0000989 | Pruritus | |
| HP:0001250 | Seizure | |
| HP:0001518 | Small for gestational age | |
| HP:0001744 | Splenomegaly | |
| Very rare (<4-1%) | ||
| HP:0001114 | Xanthelasma | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26775892[PMID]_31437071[PMID]_28688594[PMID]_27346637[PMID]_8456846[PMID]_14928160[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/30391
- This record as JSON: /data/d/30391.json