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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Odontoleukodystrophy
Hypohidrotic ectodermal dysplasia with immunodeficiency

POLR3A IKBKG
NFKBIA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POLR3A
(0.63)
IKBKG



Citations in the biomedical literature:


Odontoleukodystrophy
POLR3A
Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA



Odontoleukodystrophy
Hypohidrotic ectodermal dysplasia with immunodeficiency

Synonym(s):
- Dentoleukoencephalopathy
- Leukodystrophy with oligodontia

Synonym(s):
- Anhidrotic ectodermal dysplasia with immunodeficiency
- EDA-ID
- HED-ID

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

Classification (ICD10):
- Diseases of the digestive system -
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: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.