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1 OMIM reference -
2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1

Budd-Chiari syndrome

1 OMIM reference -
2 associated genes
20 signs/symptoms

Piebaldism

Budd-Chiari syndrome

KIT	(UniProt - OMIM)		F5	(UniProt - OMIM)
SNAI2	(UniProt - OMIM)		JAK2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIT	(0.85)	JAK2

Citations in the biomedical literature:

Piebaldism		Budd-Chiari syndrome

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin 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: neonatal/infancy Average age of death: normal 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 - 1 MeSH reference: D016116		External references: 1 OMIM reference - 1 MeSH reference: D006502

Piebaldism		Budd-Chiari syndrome
	Very frequent - Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Irregular / patchy skin hypopigmentation - White forelock / piebaldism Frequent - Anomalies of eyelids, eyelashes and lacrimal system - Irregular / in bands / reticular skin hyperpigmentation - Macules Occasional - Anomalies of mouth, lip and philtrum - Ataxia / incoordination / trouble of the equilibrium - Brachycephaly / flat occiput - Broad nasal root - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Microcephaly - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Synophris / synophrys		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