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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
No signs/symptoms info
Hypohidrotic ectodermal dysplasia with immunodeficiency
Autosomal dominant progressive external ophthalmoplegia

IKBKG C10ORF2
NFKBIA POLG
POLG2
RRM2B
SLC25A4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NFKBIA
(0.76)
SLC25A4



Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Autosomal dominant progressive external ophthalmoplegia
C10ORF2 POLG POLG2 RRM2B SLC25A4



Hypohidrotic ectodermal dysplasia with immunodeficiency
Autosomal dominant progressive external ophthalmoplegia

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

Synonym(s):
- adPEO

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
5 OMIM references -
No MeSH references

No signs/symptoms info available.