MCID: RRG078
MIFTS: 28

Rare Genetic Deafness

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Rare Genetic Deafness

MalaCards integrated aliases for Rare Genetic Deafness:

Name: Rare Genetic Deafness 58 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


External Ids:

Orphanet 58 ORPHA96210

Summaries for Rare Genetic Deafness

MalaCards based summary : Rare Genetic Deafness is related to branchiootic syndrome and deafness, autosomal recessive 6. An important gene associated with Rare Genetic Deafness is MYO7A (Myosin VIIA). Related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Rare Genetic Deafness

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

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 10.7 SLC26A4 GJB2 EYA1
2 deafness, autosomal recessive 6 10.7 TMPRSS3 TMC1
3 deafness, autosomal recessive 3 10.7 MYO7A MYO15A GJB2
4 labyrinthitis 10.7 SLC26A4 MYO7A GJB2
5 auditory neuropathy spectrum disorder 10.7 OTOF MYO7A
6 deafness, autosomal dominant 56 10.7 USH2A SLC26A4 GJB2
7 non-syndromic genetic deafness 10.7 USH2A MYO15A GJB2
8 deafness, autosomal dominant 48 10.7 MYO7A MYO6 MYO15A
9 drug-induced hearing loss 10.7 MYO7A CDH23
10 deafness, autosomal dominant 27 10.7 STRC CDH23
11 deafness, autosomal recessive 63 10.7 TMC1 MYO7A MYO15A
12 deafness, autosomal dominant 54 10.7 WFS1 GJB2
13 deafness, autosomal recessive 61 10.7 STRC SLC26A4 OTOF
14 deafness, autosomal recessive 79 10.7 TMC1 MYO15A GJB2
15 deafness, autosomal dominant 2b 10.7 SLC26A4 GJB2
16 deafness, autosomal recessive 37 10.7 MYO7A MYO6 MYO15A
17 ear malformation 10.7 SLC26A4 GJB2 EYA1
18 deafness, autosomal dominant 25 10.7 OTOF MYO7A GJB2
19 laryngomalacia 10.7 WFS1 EYA1
20 nonsyndromic retinitis pigmentosa 10.7 USH2A CLRN1
21 deafness, autosomal dominant 22 10.7 MYO7A MYO6 MYO15A
22 deafness, autosomal dominant 1 10.7 WFS1 MYO7A MYO15A GJB2
23 deafness, autosomal recessive 30 10.7 PCDH15 MYO7A MYO15A
24 deafness, autosomal dominant 7 10.7 TMPRSS3 MYO6
25 retinitis pigmentosa-deafness syndrome 10.7 USH2A PCDH15 MYO7A CDH23
26 deafness, autosomal recessive 59 10.7 OTOF GJB2
27 deafness, autosomal recessive 84b 10.7 STRC OTOGL OTOG
28 branchiootorenal syndrome 10.7 SLC26A4 GJB2 EYA1
29 deafness, autosomal dominant 6 10.7 WFS1 SLC26A4 MYO7A GJB2
30 usher syndrome, type ik 10.7 PCDH15 CLRN1 CDH23
31 peripheral vertigo 10.7 SLC26A4 OTOG GJB2
32 deafness, autosomal recessive 98 10.7 TMPRSS3 ADGRV1
33 deafness, autosomal dominant 10 10.7 TMC1 MYO6 EYA1
34 dfnb1 10.7 PCDH15 OTOF MYO7A GJB2
35 inherited retinal disorder 10.7 USH2A MYO7A CDH23
36 deafness, autosomal dominant 17 10.6 PCDH15 OTOF MYO7A MYO15A
37 deafness, autosomal dominant 4b 10.6 OTOGL OTOG GJB2
38 deafness, autosomal dominant 16 10.6 TMC1 STRC
39 deafness, autosomal recessive 10.6 PCDH15 OTOF MYO6 LOXHD1
40 deafness, autosomal dominant 59 10.6 STRC GJB2
41 deafness, autosomal recessive 48 10.6 TMC1 MYO7A
42 deafness, autosomal dominant 9 10.6 WFS1 PCDH15 MYO7A GJB2
43 inner ear disease 10.6 SLC26A4 MYO7A GJB2 CDH23
44 autosomal genetic disease 10.6 USH2A SLC26A4 MYO7A CDH23
45 erythrokeratodermia variabilis et progressiva 1 10.6 OTOG MYO6 GJB2
46 usher syndrome, type ih 10.6 PCDH15 MYO7A CLRN1 CDH23
47 usher syndrome, type iiib 10.6 MYO7A CLRN1
48 deafness, autosomal recessive 53 10.6 OTOGL OTOG
49 deafness, autosomal recessive 39 10.6 STRC MYO6 LOXHD1 GJB2
50 deafness, autosomal dominant 2a 10.6 TMPRSS3 GJB2

Graphical network of the top 20 diseases related to Rare Genetic Deafness:



Diseases related to Rare Genetic Deafness

Symptoms & Phenotypes for Rare Genetic Deafness

MGI Mouse Phenotypes related to Rare Genetic Deafness:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 ADGRV1 CDH23 CLRN1 EYA1 MYO15A MYO6
2 hearing/vestibular/ear MP:0005377 10.09 ADGRV1 CDH23 CLRN1 EYA1 GJB2 MYO15A
3 nervous system MP:0003631 9.89 ADGRV1 CDH23 CLRN1 EYA1 GJB2 MYO15A
4 vision/eye MP:0005391 9.32 ADGRV1 CDH23 CLRN1 EYA1 GJB2 MYO15A

Drugs & Therapeutics for Rare Genetic Deafness

Search Clinical Trials , NIH Clinical Center for Rare Genetic Deafness

Genetic Tests for Rare Genetic Deafness

Anatomical Context for Rare Genetic Deafness

Publications for Rare Genetic Deafness

Variations for Rare Genetic Deafness

ClinVar genetic disease variations for Rare Genetic Deafness:

6 (show top 50) (show all 726) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 USH2A NM_206933.2(USH2A):c.(?_5299)_(5572_?)del (p.(?))deletion Pathogenic 179214 1:216251431-216251704 1:216078089-216078362
2 USH2A NM_007123.5(USH2A):c.4510dup (p.Arg1504fs)duplication Pathogenic 166504 rs727503731 1:216348710-216348711 1:216175368-216175369
3 USH2A NM_206933.2(USH2A):c.(?_8682)_(8845_?)del (p.(?))deletion Pathogenic 179512 1:216040349-216040512 1:215867007-215867170
4 USH2A NC_000001.10:g.(?_216260061)_(216270555_?)deldeletion Pathogenic 179215 1:216260061-216270555 1:216086719-216097213
5 GPSM2 NM_013296.5(GPSM2):c.459_460del (p.Ala154fs)deletion Pathogenic 180034 rs727505300 1:109440625-109440626 1:108898003-108898004
6 USH2A NM_206933.3(USH2A):c.14803C>T (p.Arg4935Ter)SNV Pathogenic 177760 rs146733615 1:215814065-215814065 1:215640723-215640723
7 USH2A NM_206933.3(USH2A):c.14248C>T (p.Gln4750Ter)SNV Pathogenic 179439 rs727504867 1:215824029-215824029 1:215650687-215650687
8 USH2A NM_206933.3(USH2A):c.13374del (p.Glu4458fs)deletion Pathogenic 166428 rs727503715 1:215847879-215847879 1:215674537-215674537
9 USH2A NC_000001.10:g.(?_216465517)_(216500996_?)deldeletion Pathogenic 178656 1:216465517-216500996 1:216292175-216327654
10 USH2A NM_206933.3(USH2A):c.11145T>A (p.Tyr3715Ter)SNV Pathogenic 179075 rs727504608 1:215933088-215933088 1:215759746-215759746
11 USH2A NM_206933.3(USH2A):c.6398G>A (p.Trp2133Ter)SNV Pathogenic 166484 rs727503725 1:216173832-216173832 1:216000490-216000490
12 USH2A NM_007123.5(USH2A):c.1992dup (p.Lys665Ter)duplication Pathogenic 178971 rs730880349 1:216424419-216424420 1:216251077-216251078
13 USH2A NM_206933.2(USH2A):c.(?_1645)_(1840_?)del (p.(?))deletion Pathogenic 178657 1:216465517-216465712 1:216292175-216292370
14 USH2A NM_206933.3(USH2A):c.11440G>T (p.Gly3814Ter)SNV Pathogenic 180084 rs727505337 1:215916627-215916627 1:215743285-215743285
15 USH2A NM_007123.5(USH2A):c.2541C>A (p.Cys847Ter)SNV Pathogenic 166516 rs727503736 1:216420195-216420195 1:216246853-216246853
16 USH2A NM_007123.5(USH2A):c.632G>A (p.Trp211Ter)SNV Pathogenic 179482 rs727504893 1:216591875-216591875 1:216418533-216418533
17 OTOF NM_194248.3(OTOF):c.2818C>T (p.Gln940Ter)SNV Pathogenic 179539 rs727504936 2:26699044-26699044 2:26476176-26476176
18 OTOF NM_194248.3(OTOF):c.3178del (p.Ala1060fs)deletion Pathogenic 179115 rs727504639 2:26697491-26697491 2:26474623-26474623
19 OTOF NM_194248.3(OTOF):c.2991+2T>GSNV Pathogenic 178509 rs370132645 2:26698780-26698780 2:26475912-26475912
20 ADGRV1 NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del (p.(?))deletion Pathogenic 179513 5:89953722-89954095 5:90657905-90658278
21 KCNQ4 NM_004700.4(KCNQ4):c.459del (p.Ala154fs)deletion Pathogenic 179111 rs727504635 1:41283888-41283888 1:40818216-40818216
22 OTOF NM_194248.3(OTOF):c.5203del (p.Arg1735fs)deletion Pathogenic 164835 rs727503352 2:26685039-26685039 2:26462171-26462171
23 OTOF NM_194248.3(OTOF):c.4799+1G>ASNV Pathogenic 164841 rs200147906 2:26688539-26688539 2:26465671-26465671
24 OTOF NM_194248.3(OTOF):c.2975_2976AG[1] (p.Gln994fs)short repeat Pathogenic 179828 rs397515597 2:26698795-26698796 2:26475927-26475928
25 ADGRV1 NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)deldeletion Pathogenic 178693 5:90368249-90459732 5:91072432-91163915
26 SLC26A4 NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)SNV Pathogenic 165257 rs727503428 7:107338496-107338496 7:107698051-107698051
27 SLC26A4 NM_000441.2(SLC26A4):c.1614+1G>CSNV Pathogenic 179170 rs111033312 7:107338557-107338557 7:107698112-107698112
28 GSDME NM_001127453.2(GSDME):c.991-21TTC[2]short repeat Pathogenic 179997 rs727505273 7:24746008-24746010 7:24706389-24706391
29 EYA1 NM_172058.2(EYA1):c.(?_-66)_(*76_?)deldeletion Pathogenic 163426 8:72111499-72268758 8:71199264-71356523
30 ADGRV1 NM_032119.4(ADGRV1):c.5643del (p.Tyr1882fs)deletion Pathogenic 163578 rs727503076 5:89977248-89977248 5:90681431-90681431
31 EYA1 NM_000503.6(EYA1):c.1475+1G>CSNV Pathogenic 163427 rs727503042 8:72127848-72127848 8:71215613-71215613
32 EYA1 NM_000503.6(EYA1):c.428G>A (p.Trp143Ter)SNV Pathogenic 178857 rs727504494 8:72229915-72229915 8:71317680-71317680
33 ADGRV1 NM_032119.4(ADGRV1):c.10056_10059ACAA[1] (p.Thr3354fs)short repeat Pathogenic 179597 rs727504978 5:90021368-90021371 5:90725551-90725554
34 ADGRV1 NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter)SNV Pathogenic 179305 rs727504777 5:90073825-90073825 5:90778008-90778008
35 ADGRV1 NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs)deletion Pathogenic 179121 rs727504644 5:90149199-90149211 5:90853381-90853393
36 SLC26A4 NM_000441.2(SLC26A4):c.2089+1G>ASNV Pathogenic 165263 rs727503430 7:107344831-107344831 7:107704386-107704386
37 PCDH15 NM_033056.3(PCDH15):c.(?_-15)_(876_?)deldeletion Pathogenic 164883 10:56077031-56424037 10:54317271-54664277
38 CDH23 NM_022124.6(CDH23):c.945+1G>TSNV Pathogenic 162876 rs727502919 10:73375374-73375374 10:71615617-71615617
39 CDH23 NC_000010.10:g.(?_73491744)_(73494038_?)deldeletion Pathogenic 179348 10:73491744-73494038 10:71731987-71734281
40 MYO7A NC_000011.9:g.(?_76923997)_(76925741_?)deldeletion Pathogenic 179327 11:76923997-76925741 11:77212952-77214696
41 MYO6 NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)SNV Pathogenic 164634 rs727503326 6:76554623-76554623 6:75844906-75844906
42 TMC1 NM_138691.2(TMC1):c.22del (p.Ile8fs)deletion Pathogenic 178942 rs727504554 9:75303628-75303628 9:72688712-72688712
43 CDH23 NM_022124.6(CDH23):c.7873-2A>TSNV Pathogenic 162945 rs727502933 10:73565561-73565561 10:71805804-71805804
44 PCDH15 NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter)SNV Pathogenic 177724 rs727504301 10:55849814-55849814 10:54090054-54090054
45 MYO7A NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs)duplication Pathogenic 179745 rs730880367 11:76922374-76922375 11:77211329-77211330
46 CDH23 NM_022124.6(CDH23):c.7979_7986del (p.Asp2660fs)deletion Pathogenic 179282 rs727504761 10:73565668-73565675 10:71805911-71805918
47 RDX NM_001260496.1(RDX):c.405-4131deldeletion Pathogenic 179207 rs727504709 11:110106860-110106860 11:110236135-110236135
48 STRC NM_153700.2(STRC):c.(?_4376)-190_(4845_?)-68deldeletion Pathogenic 180122 15:43892948-43895799 15:43600750-43603601
49 GJB2 NM_004004.6(GJB2):c.269dup (p.Val91fs)duplication Pathogenic 177737 rs730880338 13:20763451-20763452 13:20189312-20189313
50 STRC NC_000015.9:g.(?_43892732)_(43893212_?)deldeletion Pathogenic 165296 15:43892732-43893212 15:43600534-43601014

Expression for Rare Genetic Deafness

Search GEO for disease gene expression data for Rare Genetic Deafness.

Pathways for Rare Genetic Deafness

GO Terms for Rare Genetic Deafness

Cellular components related to Rare Genetic Deafness according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.3 USH2A TMC1 TECTA SLC26A4 PCDH15 OTOG
2 cell projection GO:0042995 9.97 USH2A STRC MYO6 MYO15A LOXHD1 ADGRV1
3 apical plasma membrane GO:0016324 9.84 USH2A SLC26A4 OTOG MYO7A
4 microvillus GO:0005902 9.63 MYO7A MYO6 CLRN1
5 myosin complex GO:0016459 9.61 MYO7A MYO6 MYO15A
6 stereocilium tip GO:0032426 9.51 TMC1 STRC
7 photoreceptor inner segment GO:0001917 9.5 USH2A MYO7A ADGRV1
8 stereocilium bundle GO:0032421 9.48 USH2A MYO15A
9 periciliary membrane compartment GO:1990075 9.4 USH2A ADGRV1
10 stereocilia ankle link complex GO:0002142 9.37 USH2A ADGRV1
11 stereocilium membrane GO:0060171 9.26 USH2A ADGRV1
12 stereocilium GO:0032420 9.23 STRC PCDH15 MYO7A MYO15A LOXHD1 CLRN1
13 stereocilia ankle link GO:0002141 9.16 USH2A ADGRV1
14 USH2 complex GO:1990696 8.96 USH2A ADGRV1

Biological processes related to Rare Genetic Deafness according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.87 WFS1 USH2A PCDH15 MYO7A CLRN1 CDH23
2 inner ear development GO:0048839 9.76 PCDH15 MYO7A GJB2 ADGRV1
3 locomotory behavior GO:0007626 9.73 PCDH15 MYO15A CDH23
4 inner ear receptor cell stereocilium organization GO:0060122 9.73 PCDH15 MYO7A CDH23 ADGRV1
5 inner ear morphogenesis GO:0042472 9.72 MYO7A MYO15A EYA1
6 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.71 TMC1 STRC PCDH15 ADGRV1
7 auditory receptor cell stereocilium organization GO:0060088 9.67 STRC PCDH15 MYO7A CLRN1
8 photoreceptor cell maintenance GO:0045494 9.65 USH2A PCDH15 CLRN1 CDH23 ADGRV1
9 sensory perception of sound GO:0007605 9.62 WFS1 USH2A TMPRSS3 TMC1 TECTA STRC
10 actin filament-based movement GO:0030048 9.57 MYO7A MYO6
11 auditory receptor cell development GO:0060117 9.54 TMC1 CLRN1
12 inner ear receptor cell differentiation GO:0060113 9.52 USH2A MYO7A
13 inner ear auditory receptor cell differentiation GO:0042491 9.51 PCDH15 MYO7A
14 maintenance of animal organ identity GO:0048496 9.49 USH2A ADGRV1
15 L-arabinose metabolic process GO:0046373 9.48 OTOGL OTOG
16 equilibrioception GO:0050957 9.46 PCDH15 MYO7A CLRN1 CDH23
17 sensory perception of light stimulus GO:0050953 9.43 USH2A PCDH15 MYO7A CLRN1 CDH23 ADGRV1

Molecular functions related to Rare Genetic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.65 PCDH15 OTOF GJB2 CDH23 ADGRV1
2 motor activity GO:0003774 9.33 MYO7A MYO6 MYO15A
3 calmodulin binding GO:0005516 9.26 WFS1 MYO7A MYO6 MYO15A
4 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOGL OTOG

Sources for Rare 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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