Details of Disease | DrugMAP

General Information of Disease (ID: DISX74O5)

Disease Name	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Synonyms	ectodermal dysplasia, hypohidrotic; ectodermal dysplasia, anhidrotic; ECTD10B; ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Disease Hierarchy	DISGAO5V: Autosomal recessive hypohidrotic ectodermal dysplasia DISX74O5: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0009147 UMLS CUI C3887494 OMIM ID 224900 MedGen ID 854356

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
GJB6	TTAU8SJ	Strong	Genetic Variation	[1]
TRAF6	TTCDR6M	Strong	Genetic Variation	[2]
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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	Definitive	Autosomal recessive	[3]
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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	Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia.Br J Dermatol. 2013 Mar;168(3):629-33. doi: 10.1111/bjd.12018. Epub 2012 Dec 13.
3	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.