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

IRF8 AXIN2
EDA
EDARADD
FGFR1
IRF6
LTBP3
MSX1
PAX9
TGFA
WNT10A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IRF8
(0.75)
IRF6



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
IRF8
Oligodontia
AXIN2 EDA EDARADD FGFR1 IRF6 LTBP3
MSX1 PAX9 TGFA WNT10A



Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Oligodontia

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):
- Selective tooth agenesis

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare odontologic disease

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

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: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Oligodontia

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



Very frequent
- Anodontia / oligodontia / hypodontia
- Complete / partial microdontia
- Face / facial anomalies
- Hypoplastic mandibula / partial absence of the mandibula
- Tooth shape anomaly

Frequent
- Autosomal recessive inheritance
- X-linked recessive inheritance