Details of Disease

General Information of Disease (ID: DISP6WS1)

Disease Name Mitochondrial non-syndromic sensorineural hearing loss
Synonyms
deafness, nonsyndromic sensorineural, mitochondrial; isolated mitochondrial neurosensory deafness; mitochondrial non-syndromic neurosensory deafness; deafness, isolated, due to mitochondrial transmission; isolated mitochondrial sensorineural deafness; mitochondrial non-syndromic sensorineural deafness
Disease Hierarchy
DISY9BCT: Prelingual non-syndromic genetic hearing loss
DIS3U2K4: Postlingual non-syndromic genetic hearing loss
DISK7IP8: Mitochondrial oxidative phosphorylation disorder
DISP6WS1: Mitochondrial non-syndromic sensorineural hearing loss
Disease Identifiers
MONDO ID
MONDO_0010779
UMLS CUI
C3151897
OMIM ID
500008
MedGen ID
463247
Orphanet ID
90641

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MT-CO1 OTG3O9BN Supportive Mitochondrial [1]
POU3F4 OTKF5AF7 Supportive Mitochondrial [2]
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References

1 Genetic Hearing Loss Overview. 1999 Feb 14 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 Phenotype and genotype in females with POU3F4 mutations. Clin Genet. 2009 Dec;76(6):558-63. doi: 10.1111/j.1399-0004.2009.01215.x.