MCID: DFN023
MIFTS: 18

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 20 6
Late-Onset Progressive Hereditary Hearing Impairment Due to Cochleosaccular Degeneration 20
Nonsyndromic Hereditary Deafness Dfna17 20
Deafness, Autosomal Dominant 17 70
Dfna17 20

Classifications:



External Ids:

UMLS 70 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

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17:



Diseases related to 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

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:

(show all 11)
# Title Authors PMID Year
1
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. 6 61
11023810 2000
2
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. 6
26226608 2016
3
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 6
24890873 2015
4
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. 6
25505834 2014
5
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. 6
24186861 2014
6
Familial cases with MYH9 disorders caused by MYH9 S96L mutation. 6
23409987 2013
7
Cochlear implants for DFNA17 deafness. 6
17146397 2006
8
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 6
16969870 2006
9
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 6
11752022 2002
10
A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 6
9390828 1997
11
A point mutation in the SH1 helix alters elasticity and thermal stability of myosin II. 61
16901894 2006

Variations for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

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

6 (show top 50) (show all 204)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH9 NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) SNV Pathogenic 14083 rs121913657 GRCh37: 22:36744995-36744995
GRCh38: 22:36348950-36348950
2 MYH9 NM_002473.5(MYH9):c.2114G>A (p.Arg705His) SNV Pathogenic 14079 rs80338828 GRCh37: 22:36702021-36702021
GRCh38: 22:36305975-36305975
3 MYH9 NM_002473.6(MYH9):c.2714G>A (p.Arg905His) SNV Uncertain significance 164448 rs727503289 GRCh37: 22:36697021-36697021
GRCh38: 22:36300975-36300975
4 MYH9 NM_002473.6(MYH9):c.193G>A (p.Val65Met) SNV Uncertain significance 504626 rs377348805 GRCh37: 22:36745089-36745089
GRCh38: 22:36349044-36349044
5 MYH9 NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) SNV Uncertain significance 829957 rs748946434 GRCh37: 22:36680233-36680233
GRCh38: 22:36284187-36284187
6 MYH9 NM_002473.6(MYH9):c.1590G>A (p.Glu530=) SNV Uncertain significance 902873 GRCh37: 22:36708232-36708232
GRCh38: 22:36312187-36312187
7 MYH9 NM_002473.6(MYH9):c.1555G>A (p.Ala519Thr) SNV Uncertain significance 902874 GRCh37: 22:36708267-36708267
GRCh38: 22:36312222-36312222
8 MYH9 NM_002473.6(MYH9):c.1555-15C>T SNV Uncertain significance 902875 GRCh37: 22:36708282-36708282
GRCh38: 22:36312237-36312237
9 MYH9 NM_002473.6(MYH9):c.1083C>G (p.Asp361Glu) SNV Uncertain significance 902937 GRCh37: 22:36715610-36715610
GRCh38: 22:36319565-36319565
10 MYH9 NM_002473.6(MYH9):c.1048G>A (p.Gly350Ser) SNV Uncertain significance 902938 GRCh37: 22:36715645-36715645
GRCh38: 22:36319600-36319600
11 MYH9 NM_002473.6(MYH9):c.115A>G (p.Ser39Gly) SNV Uncertain significance 902998 GRCh37: 22:36745167-36745167
GRCh38: 22:36349122-36349122
12 MYH9 NM_002473.6(MYH9):c.*195T>C SNV Uncertain significance 903228 GRCh37: 22:36678519-36678519
GRCh38: 22:36282473-36282473
13 MYH9 NM_002473.6(MYH9):c.5787C>T (p.Val1929=) SNV Uncertain significance 903289 GRCh37: 22:36678810-36678810
GRCh38: 22:36282764-36282764
14 MYH9 NM_002473.6(MYH9):c.5769C>T (p.Arg1923=) SNV Uncertain significance 903290 GRCh37: 22:36678828-36678828
GRCh38: 22:36282782-36282782
15 MYH9 NM_002473.5(MYH9):c.5766-5C>T SNV Uncertain significance 258760 rs746967490 GRCh37: 22:36678836-36678836
GRCh38: 22:36282790-36282790
16 MYH9 NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln) SNV Uncertain significance 903365 GRCh37: 22:36681953-36681953
GRCh38: 22:36285907-36285907
17 MYH9 NM_002473.5(MYH9):c.5074G>A (p.Ala1692Thr) SNV Uncertain significance 627083 rs767426084 GRCh37: 22:36681987-36681987
GRCh38: 22:36285941-36285941
18 MYH9 NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) SNV Uncertain significance 903427 GRCh37: 22:36684413-36684413
GRCh38: 22:36288367-36288367
19 MYH9 NM_002473.6(MYH9):c.4728G>A (p.Arg1576=) SNV Uncertain significance 903428 GRCh37: 22:36684815-36684815
GRCh38: 22:36288769-36288769
20 MYH9 NM_002473.6(MYH9):c.4283A>G (p.Asp1428Gly) SNV Uncertain significance 903480 GRCh37: 22:36688093-36688093
GRCh38: 22:36292047-36292047
21 MYH9 NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met) SNV Uncertain significance 228928 rs758626716 GRCh37: 22:36688129-36688129
GRCh38: 22:36292083-36292083
22 MYH9 NM_002473.6(MYH9):c.2977-10C>T SNV Uncertain significance 903605 GRCh37: 22:36695098-36695098
GRCh38: 22:36299052-36299052
23 MYH9 NM_002473.6(MYH9):c.2691C>T (p.Ala897=) SNV Uncertain significance 504625 rs148883810 GRCh37: 22:36697044-36697044
GRCh38: 22:36300998-36300998
24 MYH9 NM_002473.6(MYH9):c.552C>T (p.Thr184=) SNV Uncertain significance 900445 GRCh37: 22:36722673-36722673
GRCh38: 22:36326628-36326628
25 MYH9 NM_002473.6(MYH9):c.519-6T>G SNV Uncertain significance 228929 rs867195616 GRCh37: 22:36722712-36722712
GRCh38: 22:36326667-36326667
26 MYH9 NM_002473.6(MYH9):c.-86G>T SNV Uncertain significance 900503 GRCh37: 22:36783918-36783918
GRCh38: 22:36387873-36387873
27 MYH9 NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) SNV Uncertain significance 902509 GRCh37: 22:36681272-36681272
GRCh38: 22:36285226-36285226
28 MYH9 NM_002473.6(MYH9):c.5191A>G (p.Ile1731Val) SNV Uncertain significance 902510 GRCh37: 22:36681787-36681787
GRCh38: 22:36285741-36285741
29 MYH9 NM_002473.6(MYH9):c.4855C>T (p.Leu1619=) SNV Uncertain significance 902577 GRCh37: 22:36684375-36684375
GRCh38: 22:36288329-36288329
30 MYH9 NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) SNV Uncertain significance 666865 rs762745890 GRCh37: 22:36745263-36745263
GRCh38: 22:36349218-36349218
31 MYH9 NM_002473.6(MYH9):c.4077C>T (p.Ile1359=) SNV Uncertain significance 899867 GRCh37: 22:36689393-36689393
GRCh38: 22:36293347-36293347
32 MYH9 NM_002473.5(MYH9):c.5456T>G (p.Leu1819Arg) SNV Uncertain significance 341494 rs368440234 GRCh37: 22:36681194-36681194
GRCh38: 22:36285148-36285148
33 MYH9 NM_002473.5(MYH9):c.5271G>T (p.Leu1757=) SNV Uncertain significance 341495 rs886057478 GRCh37: 22:36681707-36681707
GRCh38: 22:36285661-36285661
34 MYH9 NM_002473.5(MYH9):c.585G>A (p.Ala195=) SNV Uncertain significance 341532 rs374395918 GRCh37: 22:36722640-36722640
GRCh38: 22:36326595-36326595
35 MYH9 NM_002473.5(MYH9):c.4654G>A (p.Glu1552Lys) SNV Uncertain significance 341499 rs886057479 GRCh37: 22:36684889-36684889
GRCh38: 22:36288843-36288843
36 MYH9 NM_002473.5(MYH9):c.4345-11C>G SNV Uncertain significance 341504 rs376040199 GRCh37: 22:36685354-36685354
GRCh38: 22:36289308-36289308
37 MYH9 NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) SNV Uncertain significance 290063 rs202132383 GRCh37: 22:36684412-36684412
GRCh38: 22:36288366-36288366
38 MYH9 NM_002473.5(MYH9):c.3677G>A (p.Arg1226Gln) SNV Uncertain significance 341511 rs200697030 GRCh37: 22:36690298-36690298
GRCh38: 22:36294252-36294252
39 MYH9 NM_002473.5(MYH9):c.420C>T (p.Gly140=) SNV Uncertain significance 341534 rs372621048 GRCh37: 22:36737485-36737485
GRCh38: 22:36341440-36341440
40 MYH9 NM_002473.5(MYH9):c.543G>A (p.Thr181=) SNV Uncertain significance 258756 rs146514663 GRCh37: 22:36722682-36722682
GRCh38: 22:36326637-36326637
41 MYH9 NM_002473.6(MYH9):c.3561C>A (p.Ile1187=) SNV Uncertain significance 227608 rs876657520 GRCh37: 22:36691047-36691047
GRCh38: 22:36295001-36295001
42 MYH9 NM_002473.5(MYH9):c.1578C>G (p.Ala526=) SNV Uncertain significance 341525 rs201827299 GRCh37: 22:36708244-36708244
GRCh38: 22:36312199-36312199
43 MYH9 NM_002473.5(MYH9):c.3638C>G (p.Ala1213Gly) SNV Uncertain significance 341512 rs886057481 GRCh37: 22:36690337-36690337
GRCh38: 22:36294291-36294291
44 MYH9 NM_002473.5(MYH9):c.4126A>G (p.Ser1376Gly) SNV Uncertain significance 341506 rs771692651 GRCh37: 22:36688250-36688250
GRCh38: 22:36292204-36292204
45 MYH9 NM_002473.5(MYH9):c.5593-14G>A SNV Uncertain significance 341493 rs201676960 GRCh37: 22:36680325-36680325
GRCh38: 22:36284279-36284279
46 MYH9 NM_002473.5(MYH9):c.1539C>A (p.Asp513Glu) SNV Uncertain significance 341526 rs886057484 GRCh37: 22:36710205-36710205
GRCh38: 22:36314160-36314160
47 MYH9 NM_002473.5(MYH9):c.*474C>T SNV Uncertain significance 341477 rs55979529 GRCh37: 22:36678240-36678240
GRCh38: 22:36282194-36282194
48 MYH9 NM_002473.5(MYH9):c.4348C>T (p.Leu1450=) SNV Uncertain significance 341503 rs764948348 GRCh37: 22:36685340-36685340
GRCh38: 22:36289294-36289294
49 MYH9 NM_002473.5(MYH9):c.1188G>A (p.Val396=) SNV Uncertain significance 341528 rs147972823 GRCh37: 22:36714291-36714291
GRCh38: 22:36318246-36318246
50 MYH9 NM_002473.5(MYH9):c.4830C>T (p.Ala1610=) SNV Uncertain significance 341498 rs751904301 GRCh37: 22:36684400-36684400
GRCh38: 22:36288354-36288354

Expression for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

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GO Terms for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Sources for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

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