MCID: DFN023
MIFTS: 13

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Categories: Ear diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

MalaCards integrated aliases for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17:

Name: Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 54 30 6
Late-Onset Progressive Hereditary Hearing Impairment Due to Cochleosaccular Degeneration 54
Nonsyndromic Hereditary Deafness Dfna17 54
Deafness, Autosomal Dominant 17 74
Dfna17 54

Classifications:



External Ids:

UMLS 74 C1863659

Summaries for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

MalaCards based summary : Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17, also known as late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration, is related to macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss and deafness, autosomal dominant 17. An important gene associated with Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 is MYH9 (Myosin Heavy Chain 9).

Related Diseases for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Symptoms & Phenotypes for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Drugs & Therapeutics for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Genetic Tests for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Genetic tests related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 30 MYH9

Anatomical Context for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Publications for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Articles related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17:

# Title Authors Year
1
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. ( 25505834 )
2014
2
Cochlear implants for DFNA17 deafness. ( 17146397 )
2006
3
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. ( 11023810 )
2000
4
A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. ( 9390828 )
1997

Variations for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

ClinVar genetic disease variations for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH9 NM_002473.5(MYH9): c.2114G> A (p.Arg705His) single nucleotide variant Pathogenic rs80338828 GRCh37 Chromosome 22, 36702021: 36702021
2 MYH9 NM_002473.5(MYH9): c.2114G> A (p.Arg705His) single nucleotide variant Pathogenic rs80338828 GRCh38 Chromosome 22, 36305975: 36305975
3 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh37 Chromosome 22, 36744995: 36744995
4 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh38 Chromosome 22, 36348950: 36348950
5 MYH9 NM_002473.5(MYH9): c.2714G> A (p.Arg905His) single nucleotide variant Uncertain significance rs727503289 GRCh37 Chromosome 22, 36697021: 36697021
6 MYH9 NM_002473.5(MYH9): c.2714G> A (p.Arg905His) single nucleotide variant Uncertain significance rs727503289 GRCh38 Chromosome 22, 36300975: 36300975
7 MYH9 NM_002473.5(MYH9): c.136C> T (p.Leu46Phe) single nucleotide variant Benign/Likely benign rs147122501 GRCh38 Chromosome 22, 36349101: 36349101
8 MYH9 NM_002473.5(MYH9): c.136C> T (p.Leu46Phe) single nucleotide variant Benign/Likely benign rs147122501 GRCh37 Chromosome 22, 36745146: 36745146
9 MYH9 NM_002473.5(MYH9): c.193G> A (p.Val65Met) single nucleotide variant Uncertain significance rs377348805 GRCh37 Chromosome 22, 36745089: 36745089
10 MYH9 NM_002473.5(MYH9): c.193G> A (p.Val65Met) single nucleotide variant Uncertain significance rs377348805 GRCh38 Chromosome 22, 36349044: 36349044
11 MYH9 NM_002473.5(MYH9): c.4753_4755del (p.Lys1585del) deletion Uncertain significance rs770925540 GRCh38 Chromosome 22, 36288742: 36288744
12 MYH9 NM_002473.5(MYH9): c.4753_4755del (p.Lys1585del) deletion Uncertain significance rs770925540 GRCh37 Chromosome 22, 36684788: 36684790

Expression for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Search GEO for disease gene expression data for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17.

Pathways for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

GO Terms for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Sources for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

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