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Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

IKBKG
(UniProt - OMIM)
 IKBKG
(UniProt - OMIM)

COMMON
GENES 		IKBKG


Citations in the biomedical literature:


Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
IKBKG
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency



Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

Synonym(s):
- OL-EDA-ID
Synonym(s):
- X-linked MSMD due to IKBKG deficiency
- X-linked MSMD due to NEMO deficiency
- X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: before age 5
Type of inheritance: x-linked recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.