ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
4 signs/symptoms

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CBL	(0.63)	IRF8

Citations in the biomedical literature:

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia		Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
	Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML		Synonym(s): - MSMD due to partial IRF8 deficiency - MSMD due to partial interferon regulatory factor 8 deficiency - Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
	Very frequent - Autosomal dominant inheritance - Fever / chilling - Immunodeficiency / increased susceptibility to infections / recurrent infections - Lymphadenopathy / polyadenopathies
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)