Details of Disease

General Information of Disease (ID: DISGAO5V)

• Disease Name: Autosomal recessive hypohidrotic ectodermal dysplasia
• Synonyms: hypohidrotic ectodermal dysplasia autosomal recessive; anhidrotic ectodermal dysplasia, autosomal recessive; AR-HED; hypohidrotic ectodermal dysplasia, autosomal recessive; autosomal recessive anhidrotic ectodermal dysplasia
• Definition: A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.
• Disease Hierarchy:
  DISCPWH9: Autosomal recessive disease
  DISAQJPI: Hypohidrotic ectodermal dysplasia
  DISGAO5V: Autosomal recessive hypohidrotic ectodermal dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0016619
  MESH ID: D053360
  UMLS CUI: C0406702
  MedGen ID: 96067
  Orphanet ID: 248
  SNOMED CT ID: 27025001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WNT10A	OTJ0DNZI	Supportive	Autosomal recessive	[1]
CSTB	OT3U0JF8	Supportive	Autosomal recessive	[2]
EDAR	OT3W2UQS	Supportive	Autosomal recessive	[1]
EDARADD	OT0G52MC	Supportive	Autosomal recessive	[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] Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. Genet Med. 2019 Jul;21(7):1559-1567. doi: 10.1038/s41436-018-0355-3. Epub 2018 Nov 14.