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PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
3 associated genes
18 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Autosomal dominant hypohidrotic ectodermal dysplasia

IRF8 EDAR
EDARADD
TRAF6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IRF8
(0.65)
TRAF6



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
IRF8
Autosomal dominant hypohidrotic ectodermal dysplasia
EDAR EDARADD TRAF6



Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Autosomal dominant hypohidrotic ectodermal dysplasia

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):
- AD-HED
- Autosomal dominant anhidrotic ectodermal dysplasia

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease

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

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Autosomal dominant hypohidrotic ectodermal dysplasia

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



Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Decreased body hair / axillar / pubic hairlessness
- Dry / squaly skin / exfoliation
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Premature lost of decidious teeth
- Thin skin
- Tooth shape anomaly

Frequent
- Abnormal fingernails
- Alveolysis / paraodontitis

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Eczema
- Flattened nose
- Frontal bossing / prominent forehead
- Malignant hyperthermia
- Thick lips