Details of Disease

General Information of Disease (ID: DISJIHMA)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 7
• Synonyms: DFNB7; deafness, autosomal recessive type 7; autosomal recessive nonsyndromic deafness caused by mutation in TMC1; deafness, autosomal recessive 7; autosomal recessive deafness 7; TMC1 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 7; autosomal recessive nonsyndromic deafness type 7; DFNB11; deafness, autosomal recessive 11; autosomal recessive nonsyndromic hearing loss 7
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISJIHMA: Autosomal recessive nonsyndromic hearing loss 7
• Disease Identifiers:
  MONDO ID: MONDO_0010967
  MESH ID: C563417
  UMLS CUI: C1832978
  OMIM ID: 600974
  MedGen ID: 322084

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
TMC1	OTHYH8MU	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.