Details of Disease | DrugMAP

General Information of Disease (ID: DISQEKEI)

Disease Name	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Synonyms	ectodermal dysplasia, hypohidrotic, autosomal dominant; ectodermal dysplasia hypohidrotic autosomal dominant; hypohidrotic ectodermal dysplasia autosomal dominant; ECTD10A; ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Disease Hierarchy	DISGWW7F: Autosomal dominant hypohidrotic ectodermal dysplasia DISQEKEI: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0007509 UMLS CUI C3888065 OMIM ID 129490 MedGen ID 854747

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
EDAR	OT3W2UQS	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	Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet. 1999 Aug;22(4):366-9. doi: 10.1038/11937.