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PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
8 OMIM references -
6 associated genes
12 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Familial melanoma

IRF8 CDK4
CDKN2A
CDKN2B
CDKN2D
MC1R
TERT


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
IRF8
Familial melanoma
CDK4 CDKN2A CDKN2B CDKN2D MC1R TERT



Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Familial melanoma

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Familial melanoma

Very frequent
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lymphadenopathy / polyadenopathies



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