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Primary familial polycythemia

1 OMIM reference -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Budd-Chiari syndrome

1 OMIM reference -
2 associated genes
20 signs/symptoms

Primary familial polycythemia

Budd-Chiari syndrome

EPOR	(UniProt - OMIM)		F5	(UniProt - OMIM)
			JAK2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EPOR	(0.96)	JAK2

Citations in the biomedical literature:

Primary familial polycythemia		Budd-Chiari syndrome
	Synonym(s): - Congenital erythrocytosis due to erythropoietin receptor mutation - Congenital polycythemia due to erythropoietin receptor mutation - Familial erythrocytosis - PFCP - Primary congenital erythrocytosis - Primary familial and congenital polycythemia		Synonym(s): (no synonyms)

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

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

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


COMMON SIGNS	- Acute abdominal pain / colic

Primary familial polycythemia		Budd-Chiari syndrome
	Very frequent - Asthenia / fatigue / weakness - Dizziness - Epistaxis / nose bleeding - Facial pain / cephalalgia / migraine - Hemoglobinosis / hemoglobinopathy - Red cell disorders - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Articular / joint pain / arthralgia - Pruritus / itching Occasional - Apnea / sleep apnea - Cough - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Transient cerebral ischemia / stroke		Very frequent - Ascitis - Portal hypertension - Splenomegaly Frequent - Abnormal hepatic enzymes / transaminases - 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