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Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
1 OMIM reference -
1 associated gene
21 connected diseases
4 signs/symptoms
Disease Type of connection
Chronic myelomonocytic leukemia
Anaplastic ependymoma
Autosomal dominant popliteal pterygium syndrome
Oligodontia
Van der Woude syndrome
Congenital mesoblastic nephroma
Dedifferentiated liposarcoma
Familial melanoma
Fibrosarcoma
Precursor B-cell acute lymphoblastic leukemia
Well-differentiated liposarcoma
X-linked Opitz G / BBB syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Amyotrophic lateral sclerosis
Bilateral striopallidodentate calcinosis
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Juvenile myelomonocytic leukemia
Myeloid neoplasm associated with PDGFRB rearrangement
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Unclassified chronic myeloproliferative disease
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 genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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
Gene symbol UniProt reference OMIM reference
IRF8 Q02556601565
Very frequent
- Autosomal dominant inheritance
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lymphadenopathy / polyadenopathies