Diseases of the circulatory system
Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified
Multigenic/multifactorial
1q24.2,9p24.1
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. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 600880.1 | Lebanon | Female | No | Hepatosplenomegaly; Abnormal liver morp... Hepatosplenomegaly; Abnormal liver morphology; Portal hypertension; Hyperbilirubinemia; Elevated circulating C-reactive protein concentration; Thrombocytosis  | NM_000506.4:c.*97G>A, NM_004972.3:c.1849G>T | Heterozygous | Musallam et al, 2010 | Patient later develo... |