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Primary familial polycythemia

1 OMIM reference -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Cutaneous mastocytoma

1 associated gene
11 signs/symptoms

Primary familial polycythemia

Cutaneous mastocytoma

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EPOR	(0.68)	KIT

Citations in the biomedical literature:

Primary familial polycythemia		Cutaneous mastocytoma
	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): - Cutaneous local mastocytoma - Multiple mastocytoma - Solitary mastocytoma

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare allergic disease - Rare hematologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: variable Average age of death: normal Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references 1 MeSH reference: D054705


COMMON SIGNS	- Acute abdominal pain / colic - Facial pain / cephalalgia / migraine - Pruritus / itching

Primary familial polycythemia		Cutaneous mastocytoma
	Very frequent - Asthenia / fatigue / weakness - Dizziness - Epistaxis / nose bleeding - Hemoglobinosis / hemoglobinopathy - Red cell disorders - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Articular / joint pain / arthralgia Occasional - Apnea / sleep apnea - Cough - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Transient cerebral ischemia / stroke		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Macules - Mastocytosis - Subcutaneous nodules / lipomas / tumefaction / swelling - Urticaria - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Thick skin / pachydermia / orange skin Occasional - Hot flushes / sensation of cold