ODCs

Click node...

8 OMIM references -
6 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
4 signs/symptoms

Familial melanoma

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CDK4	(0.72)	IRF8

Citations in the biomedical literature:

Familial melanoma		Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
	Synonym(s): (no synonyms)		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 eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		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: 8 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Familial melanoma		Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
	Very frequent - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Melanoma Frequent - Anomalies of the lymphatic system - Dry / squaly skin / exfoliation - Excessive freckling - Hair and scalp anomalies Occasional - Breast neoplasm / tumor / carcinoma / cancer - Estomach / gastric neoplasm / tumor / carcinoma / cancer - Extrapyramidal syndrome - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Retinopathy		Very frequent - Fever / chilling - Immunodeficiency / increased susceptibility to infections / recurrent infections - Lymphadenopathy / polyadenopathies