Details of Disease

General Information of Disease (ID: DIS9IAMU)

Disease Name Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Synonyms ectodermal dysplasia, hypohidrotic, autosomal dominant; ECTD11A; ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Disease Hierarchy
DISGWW7F: Autosomal dominant hypohidrotic ectodermal dysplasia
DIS9IAMU: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0013982
UMLS CUI
C3541517
OMIM ID
614940
MedGen ID
762105

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJB6 TTAU8SJ Strong Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EDARADD OT0G52MC Strong Autosomal dominant [2]
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References

1 A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.J Eur Acad Dermatol Venereol. 2016 Aug;30(8):1362-5. doi: 10.1111/jdv.13600. Epub 2016 May 3.
2 Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature. 2001 Dec 20-27;414(6866):913-6. doi: 10.1038/414913a.