Details of Disease

General Information of Disease (ID: DISE5O0Q)

• Disease Name: Autosomal dominant deafness - onychodystrophy syndrome
• Synonyms: deafness, congenital, with onychodystrophy, autosomal dominant; familial ectodermal dysplasia with sensori-neural deafness and other anomalies; Ddod syndrome; DDOD; Robinson-Miller-Bensimon syndrome; deafness and onychodystrophy, dominant form; deafness, congenital, and onychodystrophy, autosomal dominant; Robinson Miller Bensimon syndrome; autosomal dominant deafness-onychodystrophy syndrome; DDOD syndrome; deafness-onychodystrophy syndrome, autosomal dominant
• Definition: Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISTXWNT: Integumentary system disorder
  DISE5O0Q: Autosomal dominant deafness - onychodystrophy syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007420
  MESH ID: C567274
  UMLS CUI: C2675730
  OMIM ID: 124480
  MedGen ID: 382676
  Orphanet ID: 79499
  SNOMED CT ID: 1208614008

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
ATP6V1B2	OTNX2V4Z	Strong	Autosomal dominant	[1]

References

• [1] De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. Cell Res. 2014 Nov;24(11):1370-3. doi: 10.1038/cr.2014.77. Epub 2014 Jun 10.