MCID: DFN023
MIFTS: 11

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Categories: Rare diseases, Ear diseases, Neuronal 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 53 29 6
Late-Onset Progressive Hereditary Hearing Impairment Due to Cochleosaccular Degeneration 53
Nonsyndromic Hereditary Deafness Dfna17 53
Deafness, Autosomal Dominant 17 73
Dfna17 53

Classifications:



External Ids:

UMLS 73 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 deafness, autosomal dominant 17 and macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss. 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 29 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
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
# 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.136C> T (p.Leu46Phe) single nucleotide variant Benign/Likely benign rs147122501 GRCh37 Chromosome 22, 36745146: 36745146
6 MYH9 NM_002473.5(MYH9): c.136C> T (p.Leu46Phe) single nucleotide variant Benign/Likely benign rs147122501 GRCh38 Chromosome 22, 36349101: 36349101
7 MYH9 NM_002473.5(MYH9): c.4753_4755delAAG (p.Lys1585del) deletion Uncertain significance rs770925540 GRCh38 Chromosome 22, 36288742: 36288744
8 MYH9 NM_002473.5(MYH9): c.4753_4755delAAG (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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....