ODCs

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1 OMIM reference -
3 associated genes
25 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Polycythemia vera

Methylmalonic acidemia with homocystinuria, type cblX


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TET2	(0.56)	HCFC1

Citations in the biomedical literature:

Polycythemia vera		Methylmalonic acidemia with homocystinuria, type cblX
	Synonym(s): - Acquired primary erythocytosis - Erythremia - Osler-Vaquez disease - PV - Polycythemia rubra vera - Vaquez disease		Synonym(s): - Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX - Methylmalonic aciduria with homocystinuria, type cblX

	Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease

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

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

	External references: 1 OMIM reference - 1 MeSH reference: D011087		External references: 1 OMIM reference - No MeSH references

Polycythemia vera
	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
Methylmalonic acidemia with homocystinuria, type cblX
(no data available)