ODCs

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1 OMIM reference -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

4 OMIM references -
3 associated genes
26 signs/symptoms

Primary familial polycythemia

Familial thrombocytosis


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

Citations in the biomedical literature:

Primary familial polycythemia		Familial thrombocytosis
	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): - Familial thrombocythemia - Hereditary thrombocythemia

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): (no data available)

	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: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references


COMMON SIGNS	- Dizziness - Facial pain / cephalalgia / migraine - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Pruritus / itching - Transient cerebral ischemia / stroke - Venous thrombosis / phlebitis / thrombophlebitis

Primary familial polycythemia		Familial thrombocytosis
	Very frequent - Asthenia / fatigue / weakness - Epistaxis / nose bleeding - Hemoglobinosis / hemoglobinopathy - Red cell disorders - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Frequent - Acute abdominal pain / colic - Articular / joint pain / arthralgia Occasional - Apnea / sleep apnea - Cough		Very frequent - Arterial embolism / thrombosis - Autosomal dominant inheritance - Platelet disorders / thrombopathies - Platelets shape anomalies Frequent - Acute ischemia of the lower limbs - Acute ischemic syndrome - Hyperhidrosis / increased sweating - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Splenomegaly - Thoracic / chest pain Occasional - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Acute leukemia - Early death / lethality - Elocution disorders / dysarthria / dysphonia - Myelodysplastic syndrome - Myeloproliferative syndrome / chronic leukemia - Pulmonary hypertension - Seizures / epilepsy / absences / spasms / status epilepticus - Spontaneous abortions - Weight loss / loss of appetite / break in weight curve / general health alteration