Details of Disease

General Information of Disease (ID: DISSJX0U)

Disease Name Ectodermal dysplasia and immunodeficiency 1
Synonyms
ectodermal dysplasia, anhidrotic, with immune deficiency 1; ectodermal dysplasia, hypohidrotic, with immune deficiency 1; HED-Id; EDA-Id; ectodermal dysplasia and immunodeficiency 1, X-linked recessive; EDAID1
Disease Hierarchy
DISBPHHV: IKBKG-related immunodeficiency with or without ectodermal dysplasia
DISLMZXR: Ectodermal dysplasia and immune deficiency
DISSJX0U: Ectodermal dysplasia and immunodeficiency 1
Disease Identifiers
MONDO ID
MONDO_0020740
MESH ID
C564542
UMLS CUI
C1846008
OMIM ID
300291
MedGen ID
375787

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IKBKG OTNWJWSD Definitive X-linked [1]
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References

1 A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet. 2000 Dec;67(6):1555-62. doi: 10.1086/316914. Epub 2000 Oct 24.