MCID: NNS044
MIFTS: 30

Non-Syndromic Genetic Deafness

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Non-Syndromic Genetic Deafness

MalaCards integrated aliases for Non-Syndromic Genetic Deafness:

Name: Non-Syndromic Genetic Deafness 58 6
Non-Syndromic Genetic Hearing Loss 58
Isolated Genetic Hearing Loss 58
Isolated Genetic Deafness 58

Characteristics:

Orphanet epidemiological data:

58
non-syndromic genetic deafness
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases
Orphanet: 58  
Rare otorhinolaryngological diseases


External Ids:

ICD10 via Orphanet 33 H90.5
Orphanet 58 ORPHA87884

Summaries for Non-Syndromic Genetic Deafness

MalaCards based summary : Non-Syndromic Genetic Deafness, also known as non-syndromic genetic hearing loss, is related to nonsyndromic deafness and deafness, autosomal dominant 3b. An important gene associated with Non-Syndromic Genetic Deafness is CEACAM16 (CEA Cell Adhesion Molecule 16, Tectorial Membrane Component), and among its related pathways/superpathways are RhoGDI Pathway and Cytoskeleton remodeling_RalA regulation pathway. Related phenotypes are hearing/vestibular/ear and nervous system

Related Diseases for Non-Syndromic Genetic Deafness

Diseases related to Non-Syndromic Genetic Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 10.4 KCNQ4 GJB2
2 deafness, autosomal dominant 3b 10.3 GJB2 CEACAM16
3 cogan syndrome 10.3 GJB2 COCH
4 acute hemorrhagic leukoencephalitis 10.3 KCNQ4 CDH23
5 deafness, autosomal dominant 28 10.3 KCNQ4 COCH
6 deafness, autosomal dominant 3a 10.3 GJB2 COCH
7 keratoderma, palmoplantar, with deafness 10.3 GJB2 CRYL1
8 deafness, autosomal recessive 6 10.2 TRIOBP CDH23
9 deafness, autosomal dominant 64 10.2 KCNQ4 GJB2 CEACAM16
10 deafness, autosomal recessive 49 10.2 MYO15A GJB2
11 deafness, autosomal dominant 20 10.2 KCNQ4 CDH23
12 deafness, autosomal dominant 41 10.2 KCNQ4 GJB2 CDH23
13 deafness, autosomal dominant 2a 10.2 KCNQ4 GJB2 COCH
14 deafness, autosomal recessive 39 10.2 TRIOBP GJB2
15 deafness, autosomal recessive 91 10.2 GJB2 COCH CDH23
16 deafness, autosomal recessive 35 10.2 TRIOBP CDH23
17 autosomal recessive nonsyndromic deafness 36 10.2 TRIOBP MYO3A
18 deafness, autosomal dominant 67 10.2 OTOF GJB2
19 deafness, autosomal recessive 77 10.2 MYO3A GJB2 CDH23
20 auditory neuropathy, autosomal dominant, 1 10.1 OTOF GJB2
21 deafness, autosomal recessive 25 10.1 TRIOBP MYO15A
22 deafness, autosomal dominant 12 10.1 TBCEL-TECTA KCNQ4 CEACAM16
23 deafness, autosomal recessive 22 10.1 TRIOBP MYO15A
24 deafness, autosomal dominant 18 10.1 MYO6 KCNQ4
25 deafness, autosomal dominant 43 10.1 MYO6 COCH
26 deafness, autosomal recessive 24 10.1 TRIOBP MYO15A
27 deafness, autosomal dominant 56 10.1 USH2A GJB2 COCH
28 deafness, autosomal recessive 62 10.1 MYO6 CDH23
29 y-linked monogenic disease 10.1 OTOF KCNQ4 CDH23
30 deafness, autosomal recessive 1b 10.0 MYO15A GJB2 CRYL1 CEACAM16
31 deafness, autosomal recessive 8 10.0 OTOF MYO15A GJB2
32 hereditary hearing loss and deafness 10.0 COCH CDH23
33 deafness, autosomal recessive 79 10.0 MYO3A MYO15A GJB2 CEACAM16
34 deafness, autosomal dominant 2b 10.0 TRIOBP KCNQ4 GJB2 COCH
35 deafness, autosomal dominant 10 10.0 MYO6 KCNQ4
36 deafness, autosomal recessive 21 10.0 TBCEL-TECTA MYO15A GJB2 CEACAM16
37 deafness, autosomal dominant 16 10.0 MYO6 KCNQ4 COCH
38 usher syndrome, type ih 10.0 MYO7A CDH23
39 drug-induced hearing loss 10.0 MYO7A GJB2
40 x-linked nonsyndromic deafness 10.0 OTOF GJB2
41 deafness, autosomal recessive 93 10.0 TRIOBP OTOF GJB2
42 deafness, autosomal recessive 15 10.0 MYO6 MYO15A CEACAM16
43 deafness, autosomal recessive 28 9.9 TRIOBP OTOF MYO15A
44 deafness, autosomal recessive 61 9.9 TRIOBP OTOF MYO3A
45 deafness, autosomal recessive 16 9.9 OTOF MYO15A GJB2 CDH23
46 labyrinthitis 9.9 MYO7A GJB2 COCH
47 deafness, autosomal recessive 3 9.9 MYO7A MYO15A GJB2
48 usher syndrome, type ic 9.9 MYO7A GJB2 CDH23
49 deafness, autosomal recessive 63 9.9 MYO7A MYO15A
50 otosclerosis 9.9 OTOF MYO15A GJB2 COCH

Graphical network of the top 20 diseases related to Non-Syndromic Genetic Deafness:



Diseases related to Non-Syndromic Genetic Deafness

Symptoms & Phenotypes for Non-Syndromic Genetic Deafness

MGI Mouse Phenotypes related to Non-Syndromic Genetic Deafness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.73 CDH23 CEACAM16 COCH GJB2 KCNQ4 MYO15A
2 nervous system MP:0003631 9.36 CDH23 GJB2 KARS1 KCNQ4 MYO15A MYO3A

Drugs & Therapeutics for Non-Syndromic Genetic Deafness

Search Clinical Trials , NIH Clinical Center for Non-Syndromic Genetic Deafness

Genetic Tests for Non-Syndromic Genetic Deafness

Anatomical Context for Non-Syndromic Genetic Deafness

Publications for Non-Syndromic Genetic Deafness

Articles related to Non-Syndromic Genetic Deafness:

# Title Authors PMID Year
1
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population. 61
28483220 2017
2
Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling. 61
19239084 2008
3
[Pedigree analysis and sequence analysis of mtDNA 12srRNA, tRNA(Leu(UUR)), tRNA(Ser(UCN)) gene in nonsyndromic inherited deafness pedigrees]. 61
15620132 2004
4
A novel type of myosin encoded by the mouse deafness gene shaker-2. 61
9703981 1998

Variations for Non-Syndromic Genetic Deafness

ClinVar genetic disease variations for Non-Syndromic Genetic Deafness:

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO15A NM_016239.4(MYO15A):c.5851del (p.Ser1951fs) Deletion Pathogenic 179619 rs727504995 17:18046095-18046095 17:18142781-18142781
2 COCH NM_004086.3(COCH):c.151C>T (p.Pro51Ser) SNV Pathogenic 6611 rs28938175 14:31346846-31346846 14:30877640-30877640
3 USH2A NM_206933.3(USH2A):c.240_241insGTAC (p.Gln81fs) Insertion Pathogenic 242396 rs587776538 1:216595438-216595439 1:216422096-216422097
4 USH2A NM_206933.3(USH2A):c.9685del (p.Glu3229fs) Deletion Pathogenic 236049 rs878853233 1:215987132-215987132 1:215813790-215813790
5 KARS1 NM_001130089.1(KARS1):c.517T>C (p.Tyr173His) SNV Pathogenic 60752 rs397514745 16:75670401-75670401 16:75636503-75636503
6 TRIOBP NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter) SNV Pathogenic 165613 rs727503528 22:38165057-38165057 22:37769050-37769050
7 MYO3A NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp) SNV Pathogenic 617675 rs1564573788 10:26414513-26414513 10:26125584-26125584
8 GJB2 NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) SNV Pathogenic 590799 rs1302739538 13:20763205-20763205 13:20189066-20189066
9 TBCEL-TECTA NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) SNV Pathogenic 498538 rs199638531 11:121016805-121016805 11:121146096-121146096
10 GJB2 NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) SNV Pathogenic 21389 rs80338941 13:20763665-20763665 13:20189526-20189526
11 GJB2 NM_004004.6(GJB2):c.232dup (p.Ala78fs) Duplication Pathogenic 553568 rs1555341960 13:20763488-20763489 13:20189349-20189350
12 GJB2 NM_004004.6(GJB2):c.246C>G (p.Ile82Met) SNV Pathogenic 188756 rs781534323 13:20763475-20763475 13:20189336-20189336
13 GJB2 NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) SNV Pathogenic 371766 rs1057517519 13:20763662-20763662 13:20189523-20189523
14 CRYL1 Deletion Pathogenic 978789 13:20797127-21105945
15 CRYL1 Deletion Pathogenic 978790 13:20802727-21034768
16 CDH23 NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) SNV Pathogenic 4928 rs121908354 10:73330641-73330641 10:71570884-71570884
17 KCNQ4 NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) SNV Pathogenic 6241 rs28937588 1:41285565-41285565 1:40819893-40819893
18 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
19 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481
20 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile) SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
21 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs) Deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
22 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
23 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
24 CEACAM16 NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) SNV Pathogenic 236048 rs746164064 19:45208901-45208901 19:44705631-44705631
25 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782
26 GJB2 NM_004004.6(GJB2):c.35G>T (p.Gly12Val) SNV Pathogenic 21387 rs1801002 13:20763686-20763686 13:20189547-20189547
27 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443
28 GJB2 NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) SNV Pathogenic 17011 rs104894402 13:20763498-20763498 13:20189359-20189359
29 GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) SNV Pathogenic 17027 rs28931593 13:20763497-20763497 13:20189358-20189358
30 GJB2 NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) SNV Pathogenic 17003 rs104894397 13:20763492-20763492 13:20189353-20189353
31 GJB2 NM_004004.6(GJB2):c.250G>C (p.Val84Leu) SNV Pathogenic 17032 rs104894409 13:20763471-20763471 13:20189332-20189332
32 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
33 GJB2 NM_004004.6(GJB2):c.269dup (p.Val91fs) Duplication Pathogenic 177737 rs730880338 13:20763451-20763452 13:20189312-20189313
34 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic 44735 rs111033299 13:20763438-20763438 13:20189299-20189299
35 GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs) Deletion Pathogenic 44737 rs111033253 13:20763395-20763408 13:20189256-20189269
36 GJB2 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) Deletion Pathogenic 189051 rs756484720 13:20763386-20763387 13:20189247-20189248
37 GJB2 NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) Microsatellite Pathogenic 17006 rs80338947 13:20763361-20763363 13:20189222-20189224
38 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
39 GJB2 NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) SNV Pathogenic 371709 rs767178508 13:20763282-20763282 13:20189143-20189143
40 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 13:20763104-20763104 13:20188965-20188965
41 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 13:20763170-20763170 13:20189031-20189031
42 KCNQ4 NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del) Microsatellite Likely pathogenic 208366 rs797044966 1:41285111-41285113 1:40819439-40819441
43 GJB2 NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) SNV Likely pathogenic 429984 rs1131691709 13:20763158-20763158 13:20189019-20189019
44 GJB2 NM_004004.6(GJB2):c.583A>G (p.Met195Val) SNV Likely pathogenic 225375 rs532203068 13:20763138-20763138 13:20188999-20188999
45 MYO7A NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) SNV Likely pathogenic 555138 rs782279338 11:76871311-76871311 11:77160265-77160265
46 GJB2 NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) SNV Likely pathogenic 44731 rs111033361 13:20763494-20763494 13:20189355-20189355
47 GJB2 NM_004004.6(GJB2):c.110T>C (p.Val37Ala) SNV Likely pathogenic 449490 rs141774369 13:20763611-20763611 13:20189472-20189472
48 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
49 OTOF NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) SNV Likely pathogenic 48258 rs111033330 2:26684765-26684765 2:26461897-26461897
50 MYO7A NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) SNV Likely pathogenic 43186 rs111033437 11:76890971-76890971 11:77179925-77179925

Expression for Non-Syndromic Genetic Deafness

Search GEO for disease gene expression data for Non-Syndromic Genetic Deafness.

Pathways for Non-Syndromic Genetic Deafness

Pathways related to Non-Syndromic Genetic Deafness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.64 MYO7A MYO6 MYO3A MYO15A
2 10.47 MYO7A MYO6 MYO3A MYO15A

GO Terms for Non-Syndromic Genetic Deafness

Cellular components related to Non-Syndromic Genetic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 9.58 MYO7A MYO6 MYO15A
2 actin cytoskeleton GO:0015629 9.56 TRIOBP MYO7A MYO6 MYO15A
3 filamentous actin GO:0031941 9.43 MYO6 MYO3A
4 stereocilium tip GO:0032426 9.37 MYO3A CEACAM16
5 stereocilium bundle GO:0032421 9.32 USH2A MYO15A
6 myosin complex GO:0016459 9.26 MYO7A MYO6 MYO3A MYO15A
7 stereocilium base GO:0120044 9.16 TRIOBP MYO7A
8 stereocilium GO:0032420 8.92 MYO7A MYO3A MYO15A CDH23

Biological processes related to Non-Syndromic Genetic Deafness according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.67 USH2A MYO7A MYO3A CDH23
2 actin filament organization GO:0007015 9.62 TRIOBP MYO7A MYO6 MYO15A
3 inner ear receptor cell stereocilium organization GO:0060122 9.51 MYO7A CDH23
4 actin filament-based movement GO:0030048 9.49 MYO7A MYO6
5 auditory receptor cell stereocilium organization GO:0060088 9.48 TRIOBP MYO7A
6 equilibrioception GO:0050957 9.46 MYO7A CDH23
7 inner ear receptor cell differentiation GO:0060113 9.43 USH2A MYO7A
8 vesicle transport along actin filament GO:0030050 9.43 MYO7A MYO6 MYO15A
9 inner ear auditory receptor cell differentiation GO:0042491 9.4 MYO7A MYO6
10 sensory perception of sound GO:0007605 9.4 USH2A TRIOBP OTOF MYO7A MYO6 MYO3A
11 sensory perception of light stimulus GO:0050953 9.33 USH2A MYO7A CDH23
12 inner ear morphogenesis GO:0042472 9.26 MYO7A MYO6 MYO15A KCNQ4

Molecular functions related to Non-Syndromic Genetic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.77 TRIOBP MYO7A MYO6 MYO3A MYO15A
2 actin filament binding GO:0051015 9.71 TRIOBP MYO7A MYO6 MYO15A
3 motor activity GO:0003774 9.56 MYO7A MYO6 MYO3A MYO15A
4 calmodulin binding GO:0005516 9.55 MYO7A MYO6 MYO3A MYO15A KCNQ4
5 ADP binding GO:0043531 9.5 MYO7A MYO6 MYO3A
6 microfilament motor activity GO:0000146 9.26 MYO7A MYO6 MYO3A MYO15A
7 actin-dependent ATPase activity GO:0030898 8.92 MYO7A MYO6 MYO3A MYO15A

Sources for Non-Syndromic Genetic Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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