Details of Disease

General Information of Disease (ID: DISIN0OB)

• Disease Name: Ectodermal dysplasia 4, hair/nail type
• Synonyms: pili torti onychodysplasia; ectodermal dysplasia, 'Pure' hair/nail type; twisted hair with nail dysplasias; ECTD4; KRT85 pure hair and nail ectodermal dysplasia; ectodermal dysplasia 4, hair/nail type; pure hair and nail ectodermal dysplasia caused by mutation in KRT85
• Definition: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.
• Disease Hierarchy:
  DIS83WTF: Pure hair and nail ectodermal dysplasia
  DISIN0OB: Ectodermal dysplasia 4, hair/nail type

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT85	OT67IP7F	Definitive	Autosomal recessive	[1]

References

• [1] Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. J Invest Dermatol. 2010 Mar;130(3):892-5. doi: 10.1038/jid.2009.341. Epub 2009 Oct 29.