Details of Disease | DrugMAP

General Information of Disease (ID: DISQW1LU)

Disease Name	Ectodermal dysplasia and immunodeficiency 2
Synonyms	ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant; EPAID2
Disease Hierarchy	DISLMZXR: Ectodermal dysplasia and immune deficiency DISQW1LU: Ectodermal dysplasia and immunodeficiency 2
Disease Identifiers	MONDO ID MONDO_0012806 MESH ID C567411 UMLS CUI C2677481 OMIM ID 612132 MedGen ID 394295

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NFKBIA	TTSHAEB	Strong	Autosomal dominant	[1]
NFKBIA	TTSHAEB	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NFKBIA	OTFT924M	Strong	Autosomal dominant	[1]
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References

1	A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest. 2003 Oct;112(7):1108-15. doi: 10.1172/JCI18714.
2	From the transcription of genes involved in ectodermal dysplasias to the understanding of associated dental anomalies.Mol Syndromol. 2012 Oct;3(4):158-68. doi: 10.1159/000342833. Epub 2012 Sep 27.