ODCs

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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 2

Polycythemia vera

1 OMIM reference -
3 associated genes
25 signs/symptoms

Metachondromatosis

Polycythemia vera

PTPN11	(UniProt - OMIM)		JAK2	(UniProt - OMIM)
			MPL	(UniProt - OMIM)
			TET2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11 PTPN11	(0.96) (0.52)	JAK2 MPL

Citations in the biomedical literature:

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

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: childhood 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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D011087

Metachondromatosis		Polycythemia vera
	Very frequent - Autosomal dominant inheritance - Bone pain - Cranial nerves palsy - Enchondroses - Epiphyseal anomaly - Exostoses - Metaphyseal anomaly - Osteonecrosis / bone infarction - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Periarticular tissue anomaly / extraarticular calcifications		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