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Budd-Chiari syndrome

1 OMIM reference -
2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1

Congenital amegakaryocytic thrombocytopenia

1 OMIM reference -
1 associated gene
12 signs/symptoms

Budd-Chiari syndrome

Congenital amegakaryocytic thrombocytopenia

F5	(UniProt - OMIM)		MPL	(UniProt - OMIM)
JAK2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JAK2	(0.66)	MPL

Citations in the biomedical literature:

Budd-Chiari syndrome		Congenital amegakaryocytic thrombocytopenia

	Classification (Orphanet): - Rare hepatic disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: any age Type of inheritance: multigenic/multifactorial		Epidemiological data: Class of prevalence: no data available Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D006502		External references: 1 OMIM reference - 1 MeSH reference: C535982

Budd-Chiari syndrome		Congenital amegakaryocytic thrombocytopenia
	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		Very frequent - Hemoglobinosis / hemoglobinopathy - Thrombocytopenia / thrombopenia - X-linked recessive inheritance Frequent - Abnormal vertebral size / shape - Anaemia - Coarse face - Pigmented naevi / naevus pigmentosus / lentigo - Scoliosis - Short neck - Short stature / dwarfism / nanism Occasional - Cardiac septal defect - Poorly ossified skull / calvarium