ODCs

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1 OMIM reference -
2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Budd-Chiari syndrome

Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

F5	(UniProt - OMIM)		SH2B1	(UniProt - OMIM)
JAK2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JAK2	(0.97)	SH2B1

Citations in the biomedical literature:

Budd-Chiari syndrome		Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

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

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D006502		External references: No OMIM references No MeSH references

Budd-Chiari syndrome
	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
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
(no data available)