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1 OMIM reference -
2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1

Polycythemia vera

1 OMIM reference -
3 associated genes
25 signs/symptoms

Piebaldism

Polycythemia vera

KIT	(UniProt - OMIM)		JAK2	(UniProt - OMIM)
SNAI2	(UniProt - OMIM)		MPL	(UniProt - OMIM)
			TET2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIT	(0.85)	JAK2

Citations in the biomedical literature:

Piebaldism		Polycythemia vera
	Synonym(s): (no synonyms)		Synonym(s): - Acquired primary erythocytosis - Erythremia - Osler-Vaquez disease - PV - Polycythemia rubra vera - Vaquez disease

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal 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: D016116		External references: 1 OMIM reference - 1 MeSH reference: D011087

Piebaldism		Polycythemia vera
	Very frequent - Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Irregular / patchy skin hypopigmentation - White forelock / piebaldism Frequent - Anomalies of eyelids, eyelashes and lacrimal system - Irregular / in bands / reticular skin hyperpigmentation - Macules Occasional - Anomalies of mouth, lip and philtrum - Ataxia / incoordination / trouble of the equilibrium - Brachycephaly / flat occiput - Broad nasal root - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Microcephaly - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Synophris / synophrys		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 - Weight loss / loss of appetite / break in weight curve / general health alteration 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