Budd-Chiari syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BDCHS MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED
MOVC, INCLUDED
Number of Symptoms 24
OrphanetNr: 131
OMIM Id: 600880
ICD-10: I82.0
UMLs: C0856761
MeSH: D006502
MedDRA: 10006537
Snomed: 82385007

Prevalence, inheritance and age of onset:

Prevalence: 1.5 of 100 000 [Orphanet]
Inheritance: Multifactorial
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare vascular liver disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
(HPO:0006554) Acute hepatic failure Occasional [Orphanet] 20 / 7739
2
(HPO:0001394) Cirrhosis Frequent [Orphanet] 102 / 7739
3
(HPO:0001409) Portal hypertension Very frequent [Orphanet] 39 / 7739
4
(HPO:0100592) Peritoneal abscess Occasional [Orphanet] 10 / 7739
5
(HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
6
(HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
7
(HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
8
(HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
9
(HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
10
(HPO:0001402) Hepatocellular carcinoma 25 / 7739
11
(HPO:0005244) Gastrointestinal infarctions Occasional [Orphanet] 14 / 7739
12
(HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
13
(HPO:0005214) Intestinal obstruction Occasional [Orphanet] 35 / 7739
14
(HPO:0001541) Ascites Very frequent [Orphanet] 94 / 7739
15
(HPO:0012437) Abnormal gallbladder morphology Occasional [Orphanet] 17 / 7739
16
(HPO:0002040) Esophageal varix Frequent [Orphanet] 23 / 7739
17
(HPO:0002910) Elevated hepatic transaminases Frequent [Orphanet] 158 / 7739
18
(HPO:0001399) Hepatic failure Frequent [Orphanet] 80 / 7739
19
(HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
20
(HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
21
(HPO:0002639) Budd-Chiari syndrome 3 / 7739
22
(HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
23
(OMIM) Collateral veins 1 / 7739
24
(OMIM) Membranous obstruction of inferior vena cava (MOVC) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Budd-Chiari syndrome is a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain, and abdominal ascites (Zimmerman ...
Molecular genetics OMIM Mahmoud et al. (1997) reported the incidence of the factor V Leiden mutation (R506Q; 612309.0001) in Budd-Chiari syndrome and portal vein thrombosis. The R506Q mutation was seen in 7 (23%) of 30 patients with Budd-Chiari syndrome (6 heterozygotes ...