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Primary familial polycythemia

1 OMIM reference -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1

Split hand-split foot malformation

6 OMIM references -
5 associated genes
9 signs/symptoms

Primary familial polycythemia

Split hand-split foot malformation

EPOR	(UniProt - OMIM)		BTRC	(UniProt - OMIM)
			FBXW4	(UniProt - OMIM)
			SHFM1	(UniProt - OMIM)
			TP63	(UniProt - OMIM)
			WNT10B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EPOR	(0.72)	BTRC

Citations in the biomedical literature:

Primary familial polycythemia		Split hand-split foot malformation
	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): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 6 OMIM references - No MeSH references

Primary familial polycythemia		Split hand-split foot malformation
	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 - Acute abdominal pain / colic - Articular / joint pain / arthralgia - Pruritus / itching Occasional - Apnea / sleep apnea - Cough - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Transient cerebral ischemia / stroke		Very frequent - Autosomal dominant inheritance - Oligodactyly / ectrodactyly of fingers Frequent - Syndactyly of fingers / interdigital palm Occasional - Aniridia / iris hypoplasia - Autosomal recessive inheritance - Hand agenesis / absence - Sensorineural deafness / hearing loss - Trident hand / split hand / abnormal median ray - X-linked recessive inheritance