MCID: RRG078
MIFTS: 29

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
Rare Genetic Hearing Loss 58

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, also known as rare genetic hearing loss, is related to branchiootic syndrome and deafness, autosomal recessive 3. 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 127)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 10.7 SLC26A4 MYO7A EYA1
2 deafness, autosomal recessive 3 10.7 MYO7A MYO15A GJB2
3 labyrinthitis 10.7 SLC26A4 MYO7A GJB2
4 drug-induced hearing loss 10.7 SLC26A4 MYO7A GJB2
5 deafness, autosomal recessive 6 10.7 TMPRSS3 TMC1 ADGRV1
6 deafness, autosomal dominant 56 10.7 USH2A SLC26A4 GJB2
7 deafness, autosomal dominant 48 10.7 MYO7A MYO6 MYO15A
8 auditory neuropathy spectrum disorder 10.7 OTOF MYO7A
9 deafness, autosomal recessive 13 10.7 TMPRSS3 TMC1 CDH23
10 deafness, autosomal recessive 93 10.7 TMC1 OTOF GJB2
11 deafness, autosomal dominant 41 10.7 SLC26A4 GJB2 CDH23
12 ear malformation 10.7 SLC26A4 GJB2 EYA1
13 deafness, autosomal recessive 85 10.7 TMPRSS3 OTOF
14 deafness, autosomal recessive 62 10.7 MYO6 CDH23 ADGRV1
15 deafness, autosomal recessive 31 10.7 USH2A CLRN1 ADGRV1
16 deafness, autosomal recessive 79 10.7 TMC1 MYO15A GJB2
17 deafness, autosomal recessive 63 10.7 TMC1 MYO7A MYO15A
18 deafness, autosomal recessive 1b 10.7 STRC MYO15A GJB2
19 deafness, autosomal recessive 18a 10.7 PCDH15 MYO7A MYO15A CDH23
20 deafness, autosomal recessive 84b 10.7 STRC OTOGL OTOG
21 peripheral vertigo 10.7 SLC26A4 OTOG MYO7A GJB2
22 deafness, autosomal recessive 48 10.7 TMC1 PCDH15 MYO7A
23 deafness, autosomal dominant 49 10.7 USH2A TECTA
24 dfnb1 10.7 PCDH15 OTOF MYO7A GJB2
25 deafness, autosomal dominant 17 10.7 MYO7A MYO6 MYO15A
26 non-syndromic genetic deafness 10.7 USH2A TECTA MYO15A GJB2
27 laryngomalacia 10.7 WFS1 EYA1
28 usher syndrome, type ik 10.7 PCDH15 CLRN1 CDH23
29 deafness, x-linked 2 10.7 STRC SLC26A4 GJB2 EYA1
30 deafness, autosomal recessive 37 10.7 MYO7A MYO6 MYO15A
31 deafness, autosomal recessive 28 10.7 TECTA OTOF MYO15A
32 deafness, autosomal dominant 20 10.7 TMC1 SLC26A4 CDH23
33 deafness, autosomal dominant 15 10.7 TMC1 MYO7A MYO6
34 deafness, autosomal dominant 22 10.7 MYO7A MYO6 MYO15A
35 deafness, autosomal dominant 9 10.7 WFS1 MYO7A MYO6 GJB2
36 deafness, autosomal dominant 7 10.7 TMPRSS3 TECTA MYO6
37 nonsyndromic retinitis pigmentosa 10.7 USH2A CLRN1
38 autosomal recessive nonsyndromic deafness 36 10.7 PCDH15 CDH23
39 deafness, autosomal recessive 61 10.6 TECTA STRC SLC26A4 OTOF
40 branchiootorenal syndrome 10.6 SLC26A4 OTOF GJB2 EYA1
41 deafness, autosomal dominant 3b 10.6 TECTA GJB2
42 deafness, autosomal dominant 4b 10.6 TECTA OTOGL OTOG
43 y-linked deafness 10.6 TMC1 STRC PCDH15 OTOF
44 deafness, autosomal recessive 30 10.6 PCDH15 MYO7A MYO6 MYO15A
45 deafness, autosomal dominant 16 10.6 STRC MYO6
46 acute hemorrhagic leukoencephalitis 10.6 MYO7A CDH23
47 auditory neuropathy, autosomal dominant, 1 10.6 OTOF GJB2
48 deafness, autosomal recessive 53 10.6 TECTA OTOGL OTOG
49 deafness, autosomal recessive 21 10.6 TECTA OTOG MYO15A GJB2
50 deafness, autosomal recessive 25 10.6 TMPRSS3 MYO15A

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 MYO15A NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)deletion Pathogenic 435919 rs780170125 17:18052803-18052806 17:18149489-18149492
2 USH2A NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)SNV Pathogenic 438002 rs780308389 1:216498735-216498735 1:216325393-216325393
3 ADGRV1 NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)SNV Pathogenic 438168 rs777309662 5:90074375-90074375 5:90778558-90778558
4 MYO15A NM_016239.4(MYO15A):c.7184_7185del (p.Leu2394_Phe2395insTer)deletion Pathogenic 451626 rs1415858976 17:18052865-18052866 17:18149551-18149552
5 USH2A NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)SNV Pathogenic 497414 rs534534437 1:216462717-216462717 1:216289375-216289375
6 TECTA NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter)SNV Pathogenic 498538 rs199638531 11:121016805-121016805 11:121146096-121146096
7 USH2A NM_206933.2(USH2A):c.11048-?_11711+?dupduplication Pathogenic 503553 1:215914717-215933185
8 USH2A NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)SNV Pathogenic 504513 rs199679165 1:216270538-216270538 1:216097196-216097196
9 PAX3 NM_181458.4(PAX3):c.879dup (p.Phe294fs)duplication Pathogenic 505425 rs1553572967 2:223086019-223086020 2:222221300-222221301
10 PAX3 NM_181458.4(PAX3):c.873dup (p.Gly292fs)duplication Pathogenic 517263 rs1553572976 2:223086025-223086026 2:222221306-222221307
11 GRXCR1 NM_001080476.2(GRXCR1):c.590_593CCCT[3] (p.Val200fs)short repeat Pathogenic 504921 rs1553941938 4:42965112-42965113 4:42963095-42963096
12 USH2A NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter)SNV Pathogenic 506273 rs777465132 1:215932085-215932085 1:215758743-215758743
13 WFS1 NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn)SNV Pathogenic 517360 rs1553879004 4:6303911-6303911 4:6302184-6302184
14 ADGRV1 NM_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter)SNV Pathogenic 504947 rs1554068885 5:89938514-89938514 5:90642697-90642697
15 CDH23 NM_022124.6(CDH23):c.9176del (p.Pro3059fs)deletion Pathogenic 517317 rs1554877806 10:73571169-73571169 10:71811412-71811412
16 MITF NM_001354604.2(MITF):c.773_785dup (p.Asp263fs)duplication Pathogenic 505620 rs1553703619 3:69998210-69998211 3:69949059-69949060
17 EYA1 NM_000503.6(EYA1):c.241C>T (p.Gln81Ter)SNV Pathogenic 504996 rs1554550637 8:72234465-72234465 8:71322230-71322230
18 CDH23 NM_022124.6(CDH23):c.2289+1G>ASNV Pathogenic 504507 rs769433759 10:73454017-73454017 10:71694260-71694260
19 TECTA NM_005422.2(TECTA):c.2139C>A (p.Cys713Ter)SNV Pathogenic 505476 rs768295360 11:120998825-120998825 11:121128116-121128116
20 TMC1 NM_138691.3(TMC1):c.236+1G>ASNV Pathogenic 504715 rs775428246 9:75309631-75309631 9:72694715-72694715
21 CDH23 NM_022124.6(CDH23):c.8064+1G>TSNV Pathogenic 517297 rs1474524543 10:73565755-73565755 10:71805998-71805998
22 TECTA NM_005422.2(TECTA):c.5754_5755del (p.Val1918_Ile1919insTer)deletion Pathogenic 505042 rs1555129231 11:121039389-121039390 11:121168680-121168681
23 OTOA NM_144672.3(OTOA):c.(?_-46)_(2431_?)+58deldeletion Pathogenic 505764 16:21689790-21747769 16:21678469-21736448
24 MYO15A NM_016239.4(MYO15A):c.3026del (p.Pro1009fs)deletion Pathogenic 506256 rs1555539827 17:18025137-18025137 17:18121823-18121823
25 MYO15A NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)SNV Pathogenic 505802 rs748868741 17:18025499-18025499 17:18122185-18122185
26 OTOGL NM_173591.3(OTOGL):c.(?_6305)-71_*(79_?)deldeletion Pathogenic 517528 12:80761270-80771907 12:80367490-80378127
27 OTOGL NM_173591.3(OTOGL):c.3054dup (p.Leu1019fs)duplication Pathogenic 505260 rs764178233 12:80696424-80696425 12:80302644-80302645
28 STRC NM_153700.2(STRC):c.379C>T (p.Arg127Ter)SNV Pathogenic 505325 rs771264491 15:43910240-43910240 15:43618042-43618042
29 MYO15A NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter)SNV Pathogenic 505185 rs759523751 17:18023110-18023110 17:18119796-18119796
30 TMPRSS3 NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs)duplication Pathogenic 517148 rs397517376 21:43804115-43804116 21:42384006-42384007
31 LOXHD1 NM_144612.6(LOXHD1):c.3148G>T (p.Glu1050Ter)SNV Pathogenic 505330 rs1555679863 18:44139479-44139479 18:46559516-46559516
32 OTOGL NC_000012.12:g.(?_80278170)_(80336529_?)deldeletion Pathogenic 505207 12:80671950-80730309 12:80278170-80336529
33 OTOGL NM_173591.3(OTOGL):c.5314del (p.Ser1772fs)deletion Pathogenic 505326 rs772723774 12:80746148-80746148 12:80352368-80352368
34 OTOA NM_144672.4(OTOA):c.268-2A>GSNV Pathogenic 505849 rs770892393 16:21696549-21696549 16:21685228-21685228
35 MYO15A NM_016239.4(MYO15A):c.2311del (p.Ser771fs)deletion Pathogenic 504879 rs754865266 17:18024425-18024425 17:18121111-18121111
36 MYO15A NM_016239.4(MYO15A):c.8341-2A>CSNV Pathogenic 517420 rs778404517 17:18058626-18058626 17:18155312-18155312
37 SOX10 NM_006941.4(SOX10):c.426G>A (p.Trp142Ter)SNV Pathogenic 505252 rs1555939403 22:38379366-38379366 22:37983359-37983359
38 MYO7A NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)SNV Pathogenic 504505 rs1555051455 11:76853788-76853788 11:77142742-77142742
39 MYO7A NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)SNV Pathogenic 504508 rs782539587 11:76872076-76872076 11:77161030-77161030
40 USH2A NM_206933.3(USH2A):c.7524del (p.Arg2509fs)deletion Pathogenic 517494 rs751176116 1:216073487-216073487 1:215900145-215900145
41 USH2A NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter)SNV Pathogenic 557167 rs767078782 1:216420126-216420126 1:216246784-216246784
42 PAX3 NM_181458.4(PAX3):c.1166C>G (p.Ser389Ter)SNV Pathogenic 667018 2:223084866-223084866 2:222220147-222220147
43 OTOF NM_194248.3(OTOF):c.3864+1G>ASNV Pathogenic 667426 2:26695386-26695386 2:26472518-26472518
44 ADGRV1 NM_032119.4(ADGRV1):c.8620C>T (p.Gln2874Ter)SNV Pathogenic 666993 5:90002101-90002101 5:90706284-90706284
45 STRC NM_153700.2(STRC):c.4375+1G>ASNV Pathogenic 666997 15:43896193-43896193 15:43603995-43603995
46 STRC NM_153700.2(STRC):c.259C>T (p.Gln87Ter)SNV Pathogenic 666998 15:43910360-43910360 15:43618162-43618162
47 PAX3 NC_000002.12:g.(?_222201051)_(222295679_?)deldeletion Pathogenic 667019 2:223065770-223160398
48 ADGRV1 NC_000005.10:g.(?_90614729)_(90784051_?)deldeletion Pathogenic 666992 5:89910546-90079868
49 TMC1 NM_138691.2:c.(?_-52-7)_(16+6_?)deldeletion Pathogenic 666999 9:75263506-75263586
50 CATSPER2 NC_000015.10:g.(?_43638998)_(43639062_?)deldeletion Pathogenic 667392 15:43931196-43931260

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 9.98 USH2A STRC OTOF MYO6 MYO15A LOXHD1
3 apical plasma membrane GO:0016324 9.84 USH2A SLC26A4 OTOG MYO7A
4 microvillus GO:0005902 9.65 MYO7A MYO6 CLRN1
5 photoreceptor inner segment GO:0001917 9.63 USH2A MYO7A ADGRV1
6 myosin complex GO:0016459 9.58 MYO7A MYO6 MYO15A
7 stereocilium tip GO:0032426 9.51 TMC1 STRC
8 stereocilium bundle GO:0032421 9.49 USH2A MYO15A
9 periciliary membrane compartment GO:1990075 9.37 USH2A ADGRV1
10 stereocilia ankle link complex GO:0002142 9.32 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 19)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.88 PCDH15 MYO7A MYO6 MYO15A CLRN1
2 visual perception GO:0007601 9.87 WFS1 USH2A PCDH15 MYO7A CLRN1 CDH23
3 inner ear morphogenesis GO:0042472 9.81 MYO7A MYO6 MYO15A EYA1
4 inner ear development GO:0048839 9.8 PCDH15 MYO7A GJB2 ADGRV1
5 locomotory behavior GO:0007626 9.75 PCDH15 MYO15A CDH23
6 inner ear receptor cell stereocilium organization GO:0060122 9.73 PCDH15 MYO7A CDH23 ADGRV1
7 auditory receptor cell stereocilium organization GO:0060088 9.71 STRC PCDH15 MYO7A CLRN1
8 vesicle transport along actin filament GO:0030050 9.7 MYO7A MYO6 MYO15A
9 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.67 TMC1 STRC PCDH15 ADGRV1
10 photoreceptor cell maintenance GO:0045494 9.65 USH2A PCDH15 CLRN1 CDH23 ADGRV1
11 inner ear auditory receptor cell differentiation GO:0042491 9.63 PCDH15 MYO7A MYO6
12 sensory perception of sound GO:0007605 9.62 WFS1 USH2A TMPRSS3 TMC1 TECTA STRC
13 actin filament-based movement GO:0030048 9.58 MYO7A MYO6
14 auditory receptor cell development GO:0060117 9.57 TMC1 CLRN1
15 inner ear receptor cell differentiation GO:0060113 9.56 USH2A MYO7A
16 maintenance of animal organ identity GO:0048496 9.55 USH2A ADGRV1
17 L-arabinose metabolic process GO:0046373 9.54 OTOGL OTOG
18 equilibrioception GO:0050957 9.46 PCDH15 MYO7A CLRN1 CDH23
19 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 calmodulin binding GO:0005516 9.56 WFS1 MYO7A MYO6 MYO15A
2 motor activity GO:0003774 9.5 MYO7A MYO6 MYO15A
3 microfilament motor activity GO:0000146 9.33 MYO7A MYO6 MYO15A
4 alpha-L-arabinofuranosidase activity GO:0046556 8.96 OTOGL OTOG
5 actin-dependent ATPase activity GO:0030898 8.8 MYO7A MYO6 MYO15A

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
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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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
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72 UMLS via Orphanet
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