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Budd-Chiari syndrome
1 OMIM reference -
2 associated genes
142 connected diseases
20 signs/symptoms
Disease Type of connection
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Cerebral sinovenous thrombosis
Familial thrombocytosis
Polycythemia vera
Congenital factor V deficiency
East Texas bleeding disorder
Giant cell glioblastoma
Gliosarcoma
LEOPARD syndrome
Noonan syndrome
Acute promyelocytic leukemia
Pilocytic astrocytoma
Behçet disease
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Juvenile myelomonocytic leukemia
Metachondromatosis
Primary familial polycythemia
Laron syndrome with immunodeficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Congenital pulmonary alveolar proteinosis
Autosomal agammaglobulinemia
SHORT syndrome
Intermittent hydrarthrosis
TRAPS syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Autosomal dominant hyper-IgE syndrome
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Congenital factor II deficiency
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Primary peritoneal carcinoma
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Gastrointestinal stromal tumor
Hereditary thrombophilia due to congenital protein S deficiency
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Laron syndrome
Short stature due to partial GHR deficiency
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Renal tubular dysgenesis of genetic origin
Granulomatosis with polyangiitis
Congenital factor X deficiency
Obesity due to leptin receptor gene deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Athyreosis
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
Thyroid hypoplasia
WHIM syndrome
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Williams syndrome
Congenital amegakaryocytic thrombocytopenia
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Distal 22q11.2 microdeletion syndrome
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Autosomal dominant hypohidrotic ectodermal dysplasia
B-cell chronic lymphocytic leukemia
Catecholaminergic polymorphic ventricular tachycardia
Chuvash erythrocytosis
Hartsfield-Bixler-Demyer syndrome
Hereditary thrombophilia due to congenital protein C deficiency
Inflammatory myofibroblastic tumor
Isolated trigonocephaly
Kallmann syndrome
Lethal congenital contracture syndrome type 2
Myeloid neoplasm associated with FGFR1 rearrangement
Neuroblastoma
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Omenn syndrome
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Septo-optic dysplasia
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Von Hippel-Lindau disease
Growth delay due to insulin-like growth factor I resistance
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Atypical chronic myeloid leukemia
Behavioral variant of frontotemporal dementia
Chronic neutrophilic leukemia
Hereditary neutrophilia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Alpha-1-antichymotrypsin deficiency
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal dominant severe congenital neutropenia
Cyclic neutropenia
Familial primary localized cutaneous amyloidosis
PLCG2-associated antibody deficiency and immune dysregulation
Weaver syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare hepatic disease
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: multigenic/multifactorial
External references:
1 OMIM reference -
1 MeSH reference: D006502
Gene symbol UniProt reference OMIM reference
F5 P12259612309
JAK2 O60674147796
Very frequent
- Ascitis
- Portal hypertension
- Splenomegaly

Frequent
- Abnormal hepatic enzymes / transaminases
- Acute abdominal pain / colic
- Cirrhosis
- Esophageal varices
- Fever / chilling
- Hepatocellular liver disease / hepatic failure
- Hepatomegaly / liver enlargement (excluding storage disease)

Occasional
- Acute hepatic failure
- Acute ischemic syndrome
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hepatitis / icterus / cholestasis
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Mesenteric / intestinal infarction
- Peritonitis / peritoneal abscess
- Weight loss / loss of appetite / break in weight curve / general health alteration