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Budd-Chiari syndrome

1 OMIM reference -
2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Infantile myofibromatosis

2 OMIM references -
2 associated genes
31 signs/symptoms

Budd-Chiari syndrome

Infantile myofibromatosis

F5	(UniProt - OMIM)		NOTCH3	(UniProt - OMIM)
JAK2	(UniProt - OMIM)		PDGFRB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JAK2	(0.65)	PDGFRB

Citations in the biomedical literature:

Budd-Chiari syndrome		Infantile myofibromatosis

	Classification (Orphanet): - Rare hepatic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Neoplasms -

	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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D006502		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Intestinal obstruction / ileus

Budd-Chiari syndrome		Infantile myofibromatosis
	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 - Malabsorption / chronic diarrhea / steatorrhea - Mesenteric / intestinal infarction - Peritonitis / peritoneal abscess - Weight loss / loss of appetite / break in weight curve / general health alteration		Very frequent - Autosomal dominant inheritance - Bone cyst - Bone / osseous neoplasm / tumor / carcinoma / cancer - Fibromatosis / bone fibroma - Metaphyseal anomaly - Muscle anomalies - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Anomalies of chest / thorax / trunk - Face / facial anomalies - Intestinal / colonic anomaly - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Periarticular tissue anomaly / extraarticular calcifications - Skull / cranial anomalies - Thickened / hypertrophic / fibromatous gingivae Occasional - Anomalies of eyes and vision - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Benign tumor of the brain / nervous system - Chronic skin infection / ulcerations / ulcers / cancrum - Early death / lethality - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypercalcemia - Irregular / in bands / reticular skin hyperpigmentation - Osteolysis / osteoclasia / bone destruction / erosions - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Renal / kidney anomalies - Restricted joint mobility / joint stiffness / ankylosis - Sacro-coccyx / sacrum anomaly - Tracheo-esophageal fistula / esophageal atresia / stenosis