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Primary familial polycythemia

1 OMIM reference -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
40 signs/symptoms

Primary familial polycythemia

SHORT syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EPOR	(0.96)	PIK3R1

Citations in the biomedical literature:

Primary familial polycythemia		SHORT 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): - Aarskog-Ose-Pande syndrome - Lipodystrophy - Rieger anomaly - diabetes - Rieger anomaly - partial lipodystrophy

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537327

Primary familial polycythemia		SHORT 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 - 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 - Aniridia / iris hypoplasia - Anterior chamber anomaly - Autosomal dominant inheritance - Deepset eyes / enophthalmos - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism Frequent - Abnormal fat distribution / lipodystrophy - Anomalies of teeth and dentition - Complete / partial microdontia - Diabetes mellitus - Enamel anomaly - Face / facial anomalies - Glaucoma - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Insulin resistance - Megalocornea - Mid-facial hypoplasia / short / small midface - Pupillary anomalies / mydriasis / myosis / tonic pupil - Rippled skin - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Broad nasal root - Clinodactyly of fifth finger - Corneal clouding / opacity / vascularisation - Embryotoxon - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Iridocorneal dysgenesis / iridogoniodysgenesis - Micrognathia / retrognathia / micrognathism / retrognathism - Myotonia - Prominent supraorbital ridge - Short hand / brachydactyly - Telecanthus / canthal dystopy - Triangular face - Upper limb polydactyly / hexadactyly - Urinary / renal lithiasis / kidney stones / nephritic colic