MCID: NNS044
MIFTS: 26

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
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 branchiootic syndrome 1 and cogan syndrome. An important gene associated with Non-Syndromic Genetic Deafness is CEACAM16 (CEA Cell Adhesion Molecule 16, Tectorial Membrane Component). 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 88)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 29.3 USH2A TECTA GJB2
2 cogan syndrome 10.3 GJB2 COCH
3 deafness, autosomal dominant 3a 10.3 GJB2 COCH
4 deafness, autosomal recessive 7 10.2 MYO15A GJB2
5 deafness, autosomal dominant 18 10.2 KCNQ4 COCH
6 deafness, autosomal dominant 16 10.2 KCNQ4 COCH
7 deafness, autosomal recessive 3 10.2 MYO15A GJB2
8 deafness, autosomal dominant 28 10.2 KCNQ4 COCH
9 deafness, autosomal dominant 41 10.2 KCNQ4 GJB2
10 deafness, autosomal dominant 15 10.2 KCNQ4 COCH
11 deafness, autosomal recessive 49 10.1 MYO15A GJB2
12 deafness, autosomal recessive 15 10.1 MYO15A CEACAM16
13 deafness, autosomal recessive 77 10.1 MYO3A GJB2
14 deafness, autosomal recessive 16 10.1 MYO15A GJB2
15 deafness, autosomal dominant 20 10.1 KCNQ4 COCH
16 deafness, autosomal dominant 4b 10.1 TECTA CEACAM16
17 deafness, autosomal recessive 53 10.1 TECTA CEACAM16
18 deafness, autosomal dominant 36 10.1 MYO15A GJB2
19 deafness, autosomal dominant 48 10.0 MYO3A MYO15A
20 deafness, autosomal dominant 25 10.0 KCNQ4 COCH CEACAM16
21 deafness, autosomal dominant 64 10.0 KCNQ4 GJB2 CEACAM16
22 deafness, autosomal recessive 8 10.0 MYO15A GJB2
23 deafness, autosomal dominant 2a 10.0 KCNQ4 GJB2 COCH
24 deafness, autosomal recessive 26 10.0 TECTA GJB2
25 deafness, autosomal dominant 9 10.0 KCNQ4 GJB2 COCH
26 peripheral vertigo 10.0 KCNQ4 GJB2 COCH
27 deafness, autosomal recessive 1a 10.0 KCNQ4 GJB2 COCH
28 deafness, autosomal recessive 1b 10.0 MYO15A GJB2 CEACAM16
29 deafness, autosomal recessive 30 10.0 MYO3A MYO15A
30 waardenburg syndrome, type 1 10.0 GJB2 COCH
31 inner ear disease 10.0 KCNQ4 GJB2 COCH
32 deafness, autosomal recessive 29 10.0 TECTA GJB2
33 otosclerosis 9.9 MYO15A GJB2 COCH
34 nonsyndromic deafness 9.9 MYO15A KCNQ4 GJB2
35 deafness, autosomal dominant 31 9.9 TECTA MYO3A
36 deafness, autosomal dominant 56 9.9 USH2A GJB2 COCH
37 usher syndrome, type iid 9.9 USH2A MYO15A
38 deafness, autosomal dominant 49 9.9 USH2A TECTA
39 deafness, autosomal recessive 9.9 MYO3A KARS1 GJB2
40 deafness, autosomal dominant 10 9.9 TECTA KCNQ4
41 usher syndrome, type iia 9.9 USH2A GJB2
42 deafness, x-linked 2 9.9 GJB2 COCH
43 deafness, autosomal recessive 93 9.9 TRIOBP GJB2
44 deafness, autosomal dominant 3b 9.9 TECTA GJB2 CEACAM16
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
46 usher syndrome, type if 9.9 USH2A MYO15A
47 deafness, autosomal dominant 12 9.9 TECTA COCH CEACAM16
48 deafness, autosomal recessive 39 9.9 TRIOBP GJB2
49 x-linked nonsyndromic deafness 9.9 TECTA GJB2
50 deafness, autosomal recessive 91 9.9 TECTA 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.61 CEACAM16 COCH GJB2 KCNQ4 MYO15A MYO3A
2 nervous system MP:0003631 9.17 GJB2 KCNQ4 MYO15A MYO3A TECTA TRIOBP

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 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TECTA NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter)SNV Pathogenic 498538 rs199638531 11:121016805-121016805 11:121146096-121146096
2 GJB2 NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)SNV Pathogenic 590799 rs1302739538 13:20763205-20763205 13:20189066-20189066
3 MYO3A NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp)SNV Pathogenic 617675 rs1564573788 10:26414513-26414513 10:26125584-26125584
4 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr)SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481
5 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
6 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
7 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs)deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
8 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs)deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
9 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile)SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
10 KCNQ4 NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)SNV Pathogenic 6241 rs28937588 1:41285565-41285565 1:40819893-40819893
11 COCH NM_004086.3(COCH):c.151C>T (p.Pro51Ser)SNV Pathogenic 6611 rs28938175 14:31346846-31346846 14:30877640-30877640
12 KARS1 NM_001130089.1(KARS1):c.517T>C (p.Tyr173His)SNV Pathogenic 60752 rs397514745 16:75670401-75670401 16:75636503-75636503
13 TRIOBP NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter)SNV Pathogenic 165613 rs727503528 22:38165057-38165057 22:37769050-37769050
14 MYO15A NM_016239.4(MYO15A):c.5851del (p.Ser1951fs)deletion Pathogenic 179619 rs727504995 17:18046095-18046095 17:18142781-18142781
15 USH2A NM_206933.3(USH2A):c.9685del (p.Glu3229fs)deletion Pathogenic 236049 rs878853233 1:215987132-215987132 1:215813790-215813790
16 CEACAM16 NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys)SNV Pathogenic 236048 rs746164064 19:45208901-45208901 19:44705631-44705631
17 KCNQ4 NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del)short repeat Likely pathogenic 208366 rs797044966 1:41285111-41285113 1:40819439-40819441
18 MYO6 NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)SNV Likely pathogenic 178957 rs727504567 6:76538307-76538307 6:75828590-75828590
19 GJB2 NM_004004.6(GJB2):c.2T>C (p.Met1Thr)SNV Likely pathogenic 371781 rs371086981 13:20763719-20763719 13:20189580-20189580
20 MYO7A NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)SNV Likely pathogenic 43186 rs111033437 11:76890971-76890971 11:77179925-77179925
21 GJB2 NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)SNV Likely pathogenic 429984 rs1131691709 13:20763158-20763158 13:20189019-20189019
22 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
23 CEACAM16 NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs)duplication Likely pathogenic 804341 19:45211310-45211311 19:44708038-44708039
24 KCNQ4 NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys)SNV Likely pathogenic 505302 rs956666801 1:41285135-41285135 1:40819463-40819463
25 OTOF NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)SNV Conflicting interpretations of pathogenicity 48258 rs111033330 2:26684765-26684765 2:26461897-26461897
26 CDH23 NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)SNV Uncertain significance 422345 rs369501114 10:73565943-73565943 10:71806186-71806186
27 GJB2 NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)SNV Uncertain significance 158604 rs587783644 13:20763614-20763614 13:20189475-20189475
28 GJB2 NM_004004.6(GJB2):c.677T>G (p.Val226Gly)SNV Uncertain significance 447450 rs773846324 13:20763044-20763044 13:20188905-20188905
29 GJB2 NM_004004.6(GJB2):c.488T>C (p.Met163Thr)SNV Uncertain significance 449488 rs1273330603 13:20763233-20763233 13:20189094-20189094
30 COCH NM_004086.3(COCH):c.355G>A (p.Ala119Thr)SNV Uncertain significance 6613 rs121908931 14:31348132-31348132 14:30878926-30878926
31 MYO7A NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)SNV Uncertain significance 517357 rs782311929 11:76883813-76883813 11:77172767-77172767
32 GJB2 NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)SNV Uncertain significance 555720 rs1555341782 13:20763047-20763047 13:20188908-20188908
33 GJB2 NM_004004.6(GJB2):c.677T>A (p.Val226Asp)SNV Uncertain significance 585322 rs773846324 13:20763044-20763044 13:20188905-20188905
34 GJB2 NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr)SNV Uncertain significance 585327 rs752812448 13:20763068-20763068 13:20188929-20188929
35 CLDN9 NM_020982.4(CLDN9):c.475G>A (p.Glu159Lys)SNV Uncertain significance 869102 16:3063838-3063838 16:3013837-3013837
36 GJB2 NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)SNV Uncertain significance 21385 rs80338946 13:20763382-20763382 13:20189243-20189243
37 MYO7A NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)SNV Uncertain significance 43134 rs45629132 11:76870496-76870496 11:77159450-77159450
38 GJB2 NM_004004.6(GJB2):c.-22-2A>CSNV Uncertain significance 375406 rs201895089 13:20763744-20763744 13:20189605-20189605
39 CDH23 NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)SNV Uncertain significance 228500 rs876657756 10:73558147-73558147 10:71798390-71798390
40 TECTA NM_005422.2(TECTA):c.487-7C>GSNV Likely benign 229304 rs368627411 11:120983774-120983774 11:121113065-121113065
41 TECTA NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His)SNV Likely benign 165370 rs144343770 11:121039471-121039471 11:121168762-121168762
42 TECTA NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp)SNV Likely benign 178538 rs142486386 11:121008285-121008285 11:121137576-121137576
43 TECTA NM_005422.2(TECTA):c.3492C>T (p.Thr1164=)SNV Likely benign 178539 rs144012985 11:121008680-121008680 11:121137971-121137971
44 MYO6 NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)SNV Likely benign 164639 rs141845119 6:76599951-76599951 6:75890234-75890234
45 TECTA NM_005422.2(TECTA):c.701A>G (p.Gln234Arg)SNV Likely benign 178532 rs144682235 11:120984338-120984338 11:121113629-121113629
46 KCNQ4 NM_004700.4(KCNQ4):c.720C>G (p.Thr240=)SNV Likely benign 227469 rs752131356 1:41285030-41285030 1:40819358-40819358
47 TECTA NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu)SNV Likely benign 287165 rs148619105 11:121016724-121016724 11:121146015-121146015
48 TECTA NM_005422.2(TECTA):c.2061C>G (p.Asn687Lys)SNV Likely benign 45317 rs139165033 11:120998747-120998747 11:121128038-121128038
49 CDH23 NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)SNV Benign 45891 rs181255269 10:73453990-73453990 10:71694233-71694233
50 CDH23 NM_022124.6(CDH23):c.429+4G>ASNV Benign 45941 rs397517328 10:73270973-73270973 10:71511216-71511216

Expression for Non-Syndromic Genetic Deafness

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

Pathways for Non-Syndromic Genetic Deafness

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 myosin complex GO:0016459 9.26 MYO3A MYO15A
2 stereocilium GO:0032420 9.16 MYO3A MYO15A
3 stereocilium tip GO:0032426 8.96 MYO3A CEACAM16
4 stereocilium bundle GO:0032421 8.62 USH2A MYO15A

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.28 USH2A TRIOBP TECTA MYO3A MYO15A KCNQ4
2 inner ear morphogenesis GO:0042472 8.96 MYO15A KCNQ4

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.33 MYO3A MYO15A KCNQ4
2 microfilament motor activity GO:0000146 8.96 MYO3A MYO15A
3 actin-dependent ATPase activity GO:0030898 8.62 MYO3A MYO15A

Sources for Non-Syndromic Genetic Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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