ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

3 OMIM references -
5 associated genes
17 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

Essential thrombocythemia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IFNGR1	(0.86)	JAK2

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency		Essential thrombocythemia
	Synonym(s): - MSMD due to complete IFNgammaR1 deficiency - MSMD due to complete interferon gamma receptor 1 deficiency - Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency		Synonym(s): - ET - Essential thrombocytosis

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: adulthood Average age of death: normal Type of inheritance: sporadic

	External references: No OMIM references 1 MeSH reference: C535530		External references: 3 OMIM references - 1 MeSH reference: D013920

Essential thrombocythemia
	Very frequent - Acute ischemic syndrome - Angor pectoris / myocardial infarction - Arterial embolism / thrombosis - Bone marrow anomalies - Cerebral vascular anomalies - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Platelet disorders / thrombopathies - Platelets shape anomalies - Thoracic / chest pain - Transient amaurosis / acute visual trouble - Transient cerebral ischemia / stroke - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Splenomegaly Occasional - Acute leukemia - Myelodysplastic syndrome - Myeloproliferative syndrome / chronic leukemia
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
(no data available)