MCID: DFN024
MIFTS: 14

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Categories: Ear diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

MalaCards integrated aliases for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22:

Name: Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 20 6 70
Dfna 22 20

Classifications:



External Ids:

UMLS 70 C2931767

Summaries for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

MalaCards based summary : Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22, also known as dfna 22, is related to deafness, autosomal dominant 22. An important gene associated with Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 is MYO6 (Myosin VI).

Related Diseases for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Diseases in the Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 family:

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53

Diseases related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 22 11.5

Symptoms & Phenotypes for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Drugs & Therapeutics for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Genetic Tests for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Anatomical Context for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Publications for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Articles related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22:

# Title Authors PMID Year
1
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss. 6
18212818 2008
2
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 6
18348273 2008
3
Human deafness mutation of myosin VI (C442Y) accelerates the ADP dissociation rate. 6
15123708 2004
4
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. 6
11468689 2001

Variations for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

ClinVar genetic disease variations for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22:

6 (show top 50) (show all 185)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO6 NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr) SNV Pathogenic 8577 rs121912557 GRCh37: 6:76566915-76566915
GRCh38: 6:75857198-75857198
2 MYO6 NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) SNV Pathogenic 8582 rs121912561 GRCh37: 6:76596598-76596598
GRCh38: 6:75886881-75886881
3 MYO6 NM_004999.4(MYO6):c.2417-1758T>G SNV Pathogenic 8583 rs1562283089 GRCh37: 6:76593963-76593963
GRCh38: 6:75884246-75884246
4 MYO6 NM_004999.4(MYO6):c.1473_1473+2delinsC Indel Pathogenic 236034 rs878853225 GRCh37: 6:76568710-76568712
GRCh38: 6:75858993-75858995
5 MYO6 NM_004999.4(MYO6):c.897G>T (p.Glu299Asp) SNV Pathogenic 402263 rs1060499799 GRCh37: 6:76554694-76554694
GRCh38: 6:75844977-75844977
6 MYO6 NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter) SNV Pathogenic 544693 rs1554218566 GRCh37: 6:76599832-76599832
GRCh38: 6:75890115-75890115
7 MYO6 NM_004999.4(MYO6):c.3765del (p.Cys1256fs) Deletion Pathogenic 813826 rs1582024232 GRCh37: 6:76624636-76624636
GRCh38: 6:75914919-75914919
8 MYO6 NM_004999.4(MYO6):c.1452dup (p.Asn485Ter) Duplication Pathogenic 917516 GRCh37: 6:76568683-76568684
GRCh38: 6:75858966-75858967
9 MYO6 NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) SNV Pathogenic 164634 rs727503326 GRCh37: 6:76554623-76554623
GRCh38: 6:75844906-75844906
10 MYO6 NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) SNV Pathogenic 178957 rs727504567 GRCh37: 6:76538307-76538307
GRCh38: 6:75828590-75828590
11 MYO6 NM_004999.4(MYO6):c.2751dup (p.Gln918fs) Duplication Pathogenic 523937 rs551348450 GRCh37: 6:76599857-76599858
GRCh38: 6:75890140-75890141
12 MYO6 NM_004999.4(MYO6):c.3137+1G>A SNV Pathogenic 1032960 GRCh37: 6:76604978-76604978
GRCh38: 6:75895261-75895261
13 MYO6 NM_004999.4(MYO6):c.2078-2A>G SNV Likely pathogenic 978024 GRCh37: 6:76589535-76589535
GRCh38: 6:75879818-75879818
14 MYO6 NM_004999.4(MYO6):c.647A>T (p.Glu216Val) SNV Conflicting interpretations of pathogenicity 8580 rs121912559 GRCh37: 6:76550395-76550395
GRCh38: 6:75840678-75840678
15 MYO6 NM_004999.4(MYO6):c.*3064A>G SNV Uncertain significance 910894 GRCh37: 6:76627793-76627793
GRCh38: 6:75918076-75918076
16 MYO6 NM_004999.4(MYO6):c.*2838T>G SNV Uncertain significance 908052 GRCh37: 6:76627567-76627567
GRCh38: 6:75917850-75917850
17 MYO6 NM_004999.4(MYO6):c.*2873T>C SNV Uncertain significance 908053 GRCh37: 6:76627602-76627602
GRCh38: 6:75917885-75917885
18 MYO6 NM_004999.4(MYO6):c.*3475G>A SNV Uncertain significance 908113 GRCh37: 6:76628204-76628204
GRCh38: 6:75918487-75918487
19 MYO6 NM_004999.4(MYO6):c.*3926T>C SNV Uncertain significance 908182 GRCh37: 6:76628655-76628655
GRCh38: 6:75918938-75918938
20 MYO6 NM_004999.4(MYO6):c.*4506T>C SNV Uncertain significance 908253 GRCh37: 6:76629235-76629235
GRCh38: 6:75919518-75919518
21 MYO6 NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser) SNV Uncertain significance 800768 rs749985011 GRCh37: 6:76623977-76623977
GRCh38: 6:75914260-75914260
22 MYO6 NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro) SNV Uncertain significance 179679 rs727505048 GRCh37: 6:76599831-76599831
GRCh38: 6:75890114-75890114
23 MYO6 NM_004999.4(MYO6):c.548T>A (p.Val183Asp) SNV Uncertain significance 397508 rs1060499650 GRCh37: 6:76545668-76545668
GRCh38: 6:75835951-75835951
24 MYO6 NM_004999.4(MYO6):c.406C>A (p.Arg136=) SNV Uncertain significance 908722 GRCh37: 6:76542573-76542573
GRCh38: 6:75832856-75832856
25 MYO6 NM_004999.4(MYO6):c.1029C>T (p.Gly343=) SNV Uncertain significance 908783 GRCh37: 6:76558199-76558199
GRCh38: 6:75848482-75848482
26 MYO6 NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr) SNV Uncertain significance 908784 GRCh37: 6:76558219-76558219
GRCh38: 6:75848502-75848502
27 MYO6 NM_004999.4(MYO6):c.2359T>C (p.Trp787Arg) SNV Uncertain significance 908844 GRCh37: 6:76591478-76591478
GRCh38: 6:75881761-75881761
28 MYO6 NM_004999.4(MYO6):c.2462A>G (p.Gln821Arg) SNV Uncertain significance 908845 GRCh37: 6:76595766-76595766
GRCh38: 6:75886049-75886049
29 MYO6 NM_004999.4(MYO6):c.*263T>C SNV Uncertain significance 908967 GRCh37: 6:76624992-76624992
GRCh38: 6:75915275-75915275
30 MYO6 NM_004999.4(MYO6):c.*1011T>A SNV Uncertain significance 909028 GRCh37: 6:76625740-76625740
GRCh38: 6:75916023-75916023
31 MYO6 NM_004999.4(MYO6):c.438T>C (p.Ser146=) SNV Uncertain significance 909577 GRCh37: 6:76542605-76542605
GRCh38: 6:75832888-75832888
32 MYO6 NM_004999.4(MYO6):c.2659T>A (p.Ser887Thr) SNV Uncertain significance 909699 GRCh37: 6:76599774-76599774
GRCh38: 6:75890057-75890057
33 MYO6 NM_004999.4(MYO6):c.3439+13G>T SNV Uncertain significance 909765 GRCh37: 6:76621428-76621428
GRCh38: 6:75911711-75911711
34 MYO6 NM_004999.4(MYO6):c.3515G>A (p.Arg1172His) SNV Uncertain significance 909767 GRCh37: 6:76623855-76623855
GRCh38: 6:75914138-75914138
35 MYO6 NM_004999.4(MYO6):c.3538G>A (p.Asp1180Asn) SNV Uncertain significance 909768 GRCh37: 6:76623878-76623878
GRCh38: 6:75914161-75914161
36 MYO6 NM_004999.4(MYO6):c.*305T>C SNV Uncertain significance 909841 GRCh37: 6:76625034-76625034
GRCh38: 6:75915317-75915317
37 MYO6 NM_004999.4(MYO6):c.*1324A>G SNV Uncertain significance 909889 GRCh37: 6:76626053-76626053
GRCh38: 6:75916336-75916336
38 MYO6 NM_004999.4(MYO6):c.*1925A>G SNV Uncertain significance 909942 GRCh37: 6:76626654-76626654
GRCh38: 6:75916937-75916937
39 MYO6 NM_004999.4(MYO6):c.*2146A>C SNV Uncertain significance 909943 GRCh37: 6:76626875-76626875
GRCh38: 6:75917158-75917158
40 MYO6 NM_004999.4(MYO6):c.*2976C>T SNV Uncertain significance 910004 GRCh37: 6:76627705-76627705
GRCh38: 6:75917988-75917988
41 MYO6 NM_004999.4(MYO6):c.*3032C>T SNV Uncertain significance 910005 GRCh37: 6:76627761-76627761
GRCh38: 6:75918044-75918044
42 MYO6 NM_004999.4(MYO6):c.*3549C>T SNV Uncertain significance 910063 GRCh37: 6:76628278-76628278
GRCh38: 6:75918561-75918561
43 MYO6 NM_004999.4(MYO6):c.*3660C>T SNV Uncertain significance 910064 GRCh37: 6:76628389-76628389
GRCh38: 6:75918672-75918672
44 MYO6 NM_004999.4(MYO6):c.*3824A>C SNV Uncertain significance 910065 GRCh37: 6:76628553-76628553
GRCh38: 6:75918836-75918836
45 MYO6 NM_004999.4(MYO6):c.*4030G>A SNV Uncertain significance 910127 GRCh37: 6:76628759-76628759
GRCh38: 6:75919042-75919042
46 MYO6 NM_004999.4(MYO6):c.*4032G>A SNV Uncertain significance 910128 GRCh37: 6:76628761-76628761
GRCh38: 6:75919044-75919044
47 MYO6 NM_004999.4(MYO6):c.*4056G>A SNV Uncertain significance 910129 GRCh37: 6:76628785-76628785
GRCh38: 6:75919068-75919068
48 MYO6 NM_004999.4(MYO6):c.600C>T (p.Asn200=) SNV Uncertain significance 45166 rs145665265 GRCh37: 6:76550348-76550348
GRCh38: 6:75840631-75840631
49 MYO6 NM_004999.4(MYO6):c.3597A>G (p.Gly1199=) SNV Uncertain significance 910675 GRCh37: 6:76623937-76623937
GRCh38: 6:75914220-75914220
50 MYO6 NM_004999.4(MYO6):c.3659-10A>G SNV Uncertain significance 910676 GRCh37: 6:76624520-76624520
GRCh38: 6:75914803-75914803

Expression for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

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Pathways for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

GO Terms for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Sources for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

3 CDC
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