ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
20 signs/symptoms

Familial hyperthyroidism due to mutations in TSH receptor

Budd-Chiari syndrome

TSHR	(UniProt - OMIM)		F5	(UniProt - OMIM)
			JAK2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSHR	(0.73)	JAK2

Citations in the biomedical literature:

Familial hyperthyroidism due to mutations in TSH receptor		Budd-Chiari syndrome
	Synonym(s): - Familial non-immune hyperthyroidism - Resistance to thyroid stimulating hormone		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare circulatory system disease - Rare endocrine disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare hepatic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D006502

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
Familial hyperthyroidism due to mutations in TSH receptor
(no data available)