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 113)
# 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 auditory neuropathy spectrum disorder 10.7 OTOF MYO7A
5 labyrinthitis 10.7 SLC26A4 MYO7A GJB2
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 54 10.7 WFS1 GJB2
11 deafness, autosomal recessive 61 10.7 STRC SLC26A4 OTOF
12 deafness, autosomal recessive 63 10.7 TMC1 MYO7A MYO15A
13 deafness, autosomal dominant 27 10.7 STRC CDH23
14 deafness, autosomal recessive 79 10.7 TMC1 MYO15A GJB2
15 deafness, autosomal dominant 25 10.7 OTOF MYO7A GJB2
16 ear malformation 10.7 SLC26A4 GJB2 EYA1
17 deafness, autosomal recessive 37 10.7 MYO7A MYO6 MYO15A
18 laryngomalacia 10.7 WFS1 EYA1
19 nonsyndromic retinitis pigmentosa 10.7 USH2A CLRN1
20 deafness, autosomal dominant 2b 10.7 SLC26A4 GJB2
21 deafness, autosomal dominant 22 10.7 MYO7A MYO6 MYO15A
22 deafness, autosomal recessive 30 10.7 PCDH15 MYO7A MYO15A
23 deafness, autosomal recessive 84b 10.7 STRC OTOG
24 deafness, autosomal dominant 7 10.7 TMPRSS3 MYO6
25 deafness, autosomal dominant 1 10.7 WFS1 MYO7A MYO15A GJB2
26 deafness, autosomal recessive 59 10.7 OTOF GJB2
27 retinitis pigmentosa-deafness syndrome 10.7 USH2A PCDH15 MYO7A CDH23
28 usher syndrome, type ik 10.7 PCDH15 CLRN1 CDH23
29 branchiootorenal syndrome 10.7 SLC26A4 GJB2 EYA1
30 deafness, autosomal recessive 49 10.7 POU3F4 MYO15A GJB2
31 deafness, autosomal dominant 6 10.7 WFS1 SLC26A4 MYO7A GJB2
32 deafness, autosomal dominant 10 10.7 TMC1 MYO6 EYA1
33 peripheral vertigo 10.7 SLC26A4 OTOG GJB2
34 deafness, x-linked 2 10.7 POU3F4 GJB2
35 dfnb1 10.7 PCDH15 OTOF MYO7A GJB2
36 x-linked nonsyndromic deafness 10.7 SLC26A4 POU3F4 GJB2
37 choroid disease 10.7 USH2A POU3F4 MYO7A
38 deafness, autosomal recessive 98 10.7 TMPRSS3 ADGRV1
39 deafness, autosomal recessive 18b 10.7 TECTA STRC OTOG
40 deafness, autosomal dominant 17 10.7 PCDH15 OTOF MYO7A MYO15A
41 inherited retinal disorder 10.7 USH2A MYO7A CDH23
42 deafness, autosomal dominant 16 10.7 TMC1 STRC
43 deafness, autosomal dominant 59 10.7 STRC GJB2
44 deafness, autosomal recessive 10.7 PCDH15 OTOF MYO6 LOXHD1
45 deafness, autosomal recessive 48 10.7 TMC1 MYO7A
46 inner ear disease 10.6 SLC26A4 MYO7A GJB2 CDH23
47 deafness, autosomal dominant 9 10.6 WFS1 PCDH15 MYO7A GJB2
48 usher syndrome, type iiib 10.6 MYO7A CLRN1
49 erythrokeratodermia variabilis et progressiva 1 10.6 OTOG MYO6 GJB2
50 autosomal genetic disease 10.6 USH2A SLC26A4 MYO7A CDH23

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 10.11 ADGRV1 CDH23 CLRN1 EYA1 GJB2 MYO15A
3 nervous system MP:0003631 9.91 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 724) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRTOMT NM_001145308.4(LRTOMT):c.242G>A (p.Arg81Gln)SNV Pathogenic 543 rs137853185 11:71817140-71817140 11:72106094-72106094
2 PJVK NM_001042702.4(PJVK):c.499C>T (p.Arg167Ter)SNV Pathogenic 1300 rs118203989 2:179320828-179320828 2:178456101-178456101
3 USH2A NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter)SNV Pathogenic 2357 rs111033364 1:215901574-215901574 1:215728232-215728232
4 USH2A NM_206933.3(USH2A):c.949C>A (p.Arg317=)SNV Pathogenic 2358 rs111033272 1:216498841-216498841 1:216325499-216325499
5 USH2A NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe)SNV Pathogenic 2359 rs121912600 1:216497582-216497582 1:216324240-216324240
6 USH2A NM_206933.3(USH2A):c.2209C>T (p.Arg737Ter)SNV Pathogenic 2361 rs111033334 1:216420527-216420527 1:216247185-216247185
7 CLRN1 NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)SNV Pathogenic 4392 rs121908140 3:150645894-150645894 3:150928107-150928107
8 CLRN1 NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter)SNV Pathogenic 4397 rs111033267 3:150690307-150690307 3:150972520-150972520
9 SLC26A4 NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)SNV Pathogenic 4817 rs80338848 7:107315496-107315496 7:107675051-107675051
10 SLC26A4 NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)SNV Pathogenic 4818 rs28939086 7:107330665-107330665 7:107690220-107690220
11 SLC26A4 NM_000441.2(SLC26A4):c.1001+1G>ASNV Pathogenic 4819 rs80338849 7:107323983-107323983 7:107683538-107683538
12 USH2A NM_206933.3(USH2A):c.2898del (p.Thr967fs)deletion Pathogenic 2352 rs397518008 1:216405390-216405390 1:216232048-216232048
13 USH2A NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs)short repeat Pathogenic 2353 rs111033367 1:216363622-216363623 1:216190280-216190281
14 SLC26A4 NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)SNV Pathogenic 4821 rs111033303 7:107315415-107315415 7:107674970-107674970
15 SLC26A4 NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)SNV Pathogenic 4835 rs111033199 7:107312690-107312690 7:107672245-107672245
16 SLC26A4 NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)SNV Pathogenic 4829 rs111033307 7:107334918-107334918 7:107694473-107694473
17 PCDH15 NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter)SNV Pathogenic 4933 rs111033260 10:56077174-56077174 10:54317414-54317414
18 USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs)duplication Pathogenic 5141 rs397515359 11:17552956-17552956 11:17531409-17531409
19 OTOF NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter)SNV Pathogenic 6133 rs80356600 2:26689591-26689591 2:26466723-26466723
20 OTOF NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)SNV Pathogenic 6137 rs80356593 2:26700078-26700078 2:26477210-26477210
21 KCNQ4 NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)SNV Pathogenic 6241 rs28937588 1:41285565-41285565 1:40819893-40819893
22 KCNQ4 NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)SNV Pathogenic 6242 rs80358277 1:41285137-41285137 1:40819465-40819465
23 COCH NM_004086.3(COCH):c.151C>T (p.Pro51Ser)SNV Pathogenic 6611 rs28938175 14:31346846-31346846 14:30877640-30877640
24 COCH NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)SNV Pathogenic 6614 rs121908932 14:31358969-31358969 14:30889763-30889763
25 EYA1 NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)SNV Pathogenic 7929 rs121909195 8:72184037-72184037 8:71271802-71271802
26 EYA1 NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)SNV Pathogenic 7935 rs121909196 8:72128968-72128968 8:71216733-71216733
27 MYO6 NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter)SNV Pathogenic 8582 rs121912561 6:76596598-76596598 6:75886881-75886881
28 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr)SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481
29 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351
30 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
31 GJB2 NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)SNV Pathogenic 17003 rs104894397 13:20763492-20763492 13:20189353-20189353
32 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
33 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs)deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
34 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443
35 GJB2 NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del)short repeat Pathogenic 17006 rs80338947 13:20763361-20763363 13:20189222-20189224
36 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
37 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs)deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
38 GJB2 NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)SNV Pathogenic 17011 rs104894402 13:20763498-20763498 13:20189359-20189359
39 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)SNV Pathogenic 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
40 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile)SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
41 GJB2 NM_004004.6(GJB2):c.250G>A (p.Val84Met)SNV Pathogenic 17036 rs104894409 13:20763471-20763471 13:20189332-20189332
42 GJB2 NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)SNV Pathogenic 29662 rs80338950 13:20763170-20763170 13:20189031-20189031
43 WFS1 NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)SNV Pathogenic 30556 rs387906930 4:6303573-6303573 4:6301846-6301846
44 MT-TS1 m.7471_7472insCduplication Pathogenic 42226 rs111033319 MT:7471-7471 MT:7471-7471
45 MYO7A NM_000260.4(MYO7A):c.2172del (p.Lys725fs)deletion Pathogenic 43174 rs397516294 11:76886495-76886495 11:77175449-77175449
46 MYO7A NM_000260.4(MYO7A):c.1344-2A>GSNV Pathogenic 43143 rs111033415 11:76873164-76873164 11:77162118-77162118
47 MYO7A NM_000260.4(MYO7A):c.141G>A (p.Trp47Ter)SNV Pathogenic 43146 rs397516285 11:76858852-76858852 11:77147806-77147806
48 MYO7A NM_000260.3(MYO7A):c.1556delG (p.Gly519Alafs)deletion Pathogenic 43152 rs606231379 11:76873900-76873900 11:77162854-77162854
49 MYO7A NM_000260.4(MYO7A):c.2283-1G>TSNV Pathogenic 43178 rs397516295 11:76890090-76890090 11:77179044-77179044
50 MYO7A NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)SNV Pathogenic 43196 rs111033233 11:76892635-76892635 11:77181589-77181589

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 9.83 POU3F4 PCDH15 MYO7A GJB2 ADGRV1
3 inner ear receptor cell stereocilium organization GO:0060122 9.76 PCDH15 MYO7A CDH23 ADGRV1
4 locomotory behavior GO:0007626 9.72 PCDH15 MYO15A CDH23
5 inner ear morphogenesis GO:0042472 9.71 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 cochlea morphogenesis GO:0090103 9.57 POU3F4 EYA1
11 actin filament-based movement GO:0030048 9.56 MYO7A MYO6
12 auditory receptor cell development GO:0060117 9.52 TMC1 CLRN1
13 inner ear receptor cell differentiation GO:0060113 9.51 USH2A MYO7A
14 inner ear auditory receptor cell differentiation GO:0042491 9.49 PCDH15 MYO7A
15 maintenance of animal organ identity GO:0048496 9.48 USH2A ADGRV1
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 9.55 PCDH15 OTOF GJB2 CDH23 ADGRV1
2 motor activity GO:0003774 9.13 MYO7A MYO6 MYO15A
3 calmodulin binding GO:0005516 8.92 WFS1 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
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
Content
Loading form....