Details of Disease | DrugMAP

General Information of Disease (ID: DISGWW7F)

Disease Name	Autosomal dominant hypohidrotic ectodermal dysplasia
Synonyms	AD-HED; autosomal dominant anhidrotic ectodermal dysplasia; hypohidrotic ectodermal dysplasia, autosomal dominant
Definition	Autosomal dominant form of hypohidrotic ectodermal dysplasia.
Disease Hierarchy	DISAQJPI: Hypohidrotic ectodermal dysplasia DIS3HIWD: Autosomal dominant disease DISGWW7F: Autosomal dominant hypohidrotic ectodermal dysplasia
Disease Identifiers	MONDO ID MONDO_0015884 UMLS CUI C0265331 MedGen ID 539190 Orphanet ID 1810 SNOMED CT ID 7731005

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
TRAF6	TTCDR6M	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EDAR	OT3W2UQS	Supportive	Autosomal dominant	[1]
EDARADD	OT0G52MC	Supportive	Autosomal dominant	[1]
KDF1	OTNMH6OS	Supportive	Autosomal dominant	[2]
TRAF6	OTA5GO5K	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	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.
2	KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. Hum Genet. 2017 Jan;136(1):99-105. doi: 10.1007/s00439-016-1741-z. Epub 2016 Nov 12.