ORPHA:131
Budd-Chiari syndrome
Synonyms: BCS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- All ages
- Status
- active
A rare vascular liver disease characterized by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Budd-Chiari syndrome | BCS |
| fr | Syndrome de Budd-Chiari | = en |
| de | Budd-Chiari-Syndrom | = en |
| es | Síndrome de Budd-Chiari | SBC |
| it | Sindrome di Budd-Chiari | = en |
| nl | Syndroom van Budd-Chiari | = en |
| pt | Síndrome Budd-Chiari | = en |
| pl | Zespół Budda i Chiariego | = en |
| cs | Buddův-Chiariho syndrom | Budd-Chiariho syndrom |
| uk | Синдром Бадда-Кіарі | |
| zh | 布-加综合征 | |
| tr | Budd-Chiari sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600880 | E | validated | |
| ICD-10 | I82.0 | E | specific | validated |
| ICD-11 | DB98.5 | E | specific | validated |
| MONDO | 0010947 | E | validated | |
| MeSH | D006502 | E | validated | |
| UMLS | C0856761 | E | validated | |
| GARD | 5968 | E | validated | |
| MedDRA | 10006537 | 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 (2):
- ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101938Rare vascular liver disease
rare hepatic diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CALR | Candidate gene tested in | Not yet assessed | HGNC:1455 | ENSG00000179218 | 109091 | 19p13.13 | calreticulin | 28483676[PMID] |
| F5 | Candidate gene tested in | Not yet assessed | HGNC:3542 | ENSG00000198734 | 612309 | 1q24.2 | coagulation factor V | 24755609[PMID]_26238013[PMID] |
| JAK2 | Candidate gene tested in | Not yet assessed | HGNC:6192 | ENSG00000096968 | 147796 | 9p24.1 | Janus kinase 2 | 26557140[PMID] |
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Prevalence and incidence
12 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Annual incidence | <1 / 1 000 000 | 0.08 / 100 000 | Sweden | Value and class | Validated | 18694401[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.14 / 100 000 | Sweden | Value and class | Validated | 18694401[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.05 / 100 000 | Denmark | Value and class | Validated | 2010159[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.02 / 100 000 | Japan | Value and class | Validated | 7751574[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.24 / 100 000 | Japan | Value and class | Validated | 7751574[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.04 / 100 000 | France | Value and class | Validated | 19433611[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.21 / 100 000 | Italy | Value and class | Validated | 28180235[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.087 / 100 000 | Korea, Republic of | Value and class | Validated | 26558363[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.529 / 100 000 | Korea, Republic of | Value and class | Validated | 26558363[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | Worldwide | Value and class | Validated | 30528513[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.1 / 100 000 | Worldwide | Value and class | Validated | 30528513[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
23 annotations · validated 2024-06-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001541 | Ascites | |
| HP:0001409 | Portal hypertension | |
| HP:0001744 | Splenomegaly | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0033045 | Bipedal edema | |
| HP:0001394 | Cirrhosis | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002040 | Esophageal varix | |
| HP:0001945 | Fever | |
| HP:0030243 | Hepatic vein thrombosis | |
| HP:0002240 | Hepatomegaly | |
| Occasional (29-5%) | ||
| HP:0006554 | Acute hepatic failure | |
| HP:0001082 | Cholecystitis | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0005244 | Gastrointestinal infarctions | |
| HP:0002480 | Hepatic encephalopathy | |
| HP:0005214 | Intestinal obstruction | |
| HP:0000952 | Jaundice | |
| HP:0002024 | Malabsorption | |
| HP:0002586 | Peritonitis | |
| HP:0000083 | Renal insufficiency | |
| HP:0001824 | Weight loss | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 18814079[PMID]_37018494[PMID]_26668741[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/131
- This record as JSON: /data/d/131.json