ODCs

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1 OMIM reference -
1 associated gene
40 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Polycythemia vera

1 OMIM reference -
3 associated genes
25 signs/symptoms

SHORT syndrome

Polycythemia vera

PIK3R1	(UniProt - OMIM)		JAK2	(UniProt - OMIM)
			MPL	(UniProt - OMIM)
			TET2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3R1	(0.89)	JAK2

Citations in the biomedical literature:

SHORT syndrome		Polycythemia vera
	Synonym(s): - Aarskog-Ose-Pande syndrome - Lipodystrophy - Rieger anomaly - diabetes - Rieger anomaly - partial lipodystrophy		Synonym(s): - Acquired primary erythocytosis - Erythremia - Osler-Vaquez disease - PV - Polycythemia rubra vera - Vaquez disease

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: variable Average age of death: normal Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C537327		External references: 1 OMIM reference - 1 MeSH reference: D011087


COMMON SIGNS	- Weight loss / loss of appetite / break in weight curve / general health alteration

SHORT syndrome		Polycythemia vera
	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 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		Very frequent - Acute abdominal pain / colic - Acute leukemia - Angor pectoris / myocardial infarction - Chronic arterial hypertension - Dizziness - Ecchymoses - Epistaxis / nose bleeding - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Facial pain / cephalalgia / migraine - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Gingivorrhagia / gingival bleeding - Hepatomegaly / liver enlargement (excluding storage disease) - Myelodysplastic syndrome - Splenomegaly - Tinnitus Frequent - Articular / joint pain / arthralgia - Asthenia / fatigue / weakness - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Arterial embolism / thrombosis - Claudication / pain on mastication / while chewing - Portal hypertension - Pruritus / itching - Transient cerebral ischemia / stroke - Venous thrombosis / phlebitis / thrombophlebitis