Details of Disease

General Information of Disease (ID: DISLMZXR)

Disease Name Ectodermal dysplasia and immune deficiency
Synonyms
hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia; ectodermal dysplasia, hypohidrotic, with immune deficiency; ectodermal dysplasia, anhidrotic, with immune deficiency; Xhm-Ed; hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; anhidrotic ectodermal dysplasia with immunodeficiency; anhidrotic ectodermal dysplasia with immune deficiency; EDA-ID; hypohidrotic ectodermal dysplasia with immune deficiency
Disease Hierarchy
DISAQJPI: Hypohidrotic ectodermal dysplasia
DISNGCMN: Inborn error of immunity
DISLMZXR: Ectodermal dysplasia and immune deficiency
Disease Identifiers
MONDO ID
MONDO_0010293
MESH ID
C536181
UMLS CUI
C1846006
MedGen ID
375786
Orphanet ID
98813
SNOMED CT ID
703525006

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 Supportive Autosomal dominant [1]
NFKBIA TTSHAEB Definitive Genetic Variation [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IKBKG OTNWJWSD Supportive Autosomal dominant [3]
NFKBIA OTFT924M Supportive Autosomal dominant [1]
EDA OTAKS5WS Strong Genetic Variation [4]
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References

1 A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. Hum Mutat. 2008 Jun;29(6):861-8. doi: 10.1002/humu.20740.
2 Human IB Gain of Function: a Severe and Syndromic Immunodeficiency.J Clin Immunol. 2017 Jul;37(5):397-412. doi: 10.1007/s10875-017-0400-z. Epub 2017 Jun 9.
3 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
4 Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.J Clin Immunol. 2013 Oct;33(7):1165-74. doi: 10.1007/s10875-013-9924-z. Epub 2013 Jul 18.