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:

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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 123)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 10.6 SLC26A4 MYO7A EYA1
2 deafness, autosomal recessive 3 10.6 MYO7A MYO15A GJB2
3 labyrinthitis 10.5 SLC26A4 MYO7A GJB2
4 deafness, autosomal dominant 56 10.5 USH2A SLC26A4 GJB2
5 drug-induced hearing loss 10.5 SLC26A4 MYO7A GJB2
6 auditory neuropathy spectrum disorder 10.5 OTOF MYO7A
7 deafness, autosomal dominant 41 10.5 SLC26A4 GJB2 CDH23
8 deafness, autosomal dominant 48 10.5 MYO7A MYO6 MYO15A
9 serous labyrinthitis 10.5 SLC26A4 GJB2
10 deafness, autosomal recessive 31 10.5 USH2A ADGRV1
11 deafness, autosomal recessive 79 10.5 TMC1 MYO15A GJB2
12 ear malformation 10.5 SLC26A4 GJB2 EYA1
13 deafness, autosomal recessive 63 10.5 TMC1 MYO7A MYO15A
14 deafness, autosomal dominant 17 10.5 MYO7A MYO6 MYO15A
15 deafness, autosomal recessive 62 10.5 MYO6 CDH23 ADGRV1
16 usher syndrome, type ik 10.5 PCDH15 CDH23
17 deafness, autosomal dominant 20 10.5 TMC1 SLC26A4 CDH23
18 deafness, autosomal recessive 13 10.5 TMPRSS3 TMC1
19 deafness, autosomal recessive 93 10.5 OTOF GJB2
20 deafness, autosomal recessive 37 10.5 MYO7A MYO6 MYO15A
21 peripheral vertigo 10.5 SLC26A4 OTOG MYO7A GJB2
22 dfnb1 10.5 PCDH15 OTOF MYO7A GJB2
23 x-linked nonsyndromic deafness 10.5 SLC26A4 OTOF GJB2 EYA1
24 usher syndrome, type ih 10.5 PCDH15 MYO7A CDH23 ADGRV1
25 deafness, autosomal dominant 1, with or without thrombocytopenia 10.5 WFS1 MYO7A MYO15A GJB2
26 usher syndrome, type iiib 10.5 USH2A PCDH15 MYO7A ADGRV1
27 meniere disease 10.5 SLC26A4 OTOG MYO7A GJB2
28 deafness, autosomal recessive 84b 10.5 STRC OTOGL OTOG
29 deafness, autosomal dominant 22 10.5 MYO7A MYO6 MYO15A
30 deafness, autosomal recessive 1b 10.5 STRC MYO15A GJB2
31 deafness, autosomal recessive 18b 10.5 STRC OTOGL OTOG
32 deafness, autosomal dominant 15 10.5 TMC1 MYO7A MYO6
33 laryngomalacia 10.5 WFS1 EYA1
34 deafness, autosomal dominant 9 10.5 WFS1 MYO7A MYO6 GJB2
35 deafness, x-linked 2 10.5 STRC SLC26A4 GJB2 EYA1
36 deafness, autosomal dominant 67 10.5 OTOF GJB2
37 deafness, autosomal dominant 4b 10.5 OTOGL OTOG
38 usher syndrome, type ig 10.5 PCDH15 MYO7A CDH23
39 deafness, autosomal recessive 61 10.5 SLC26A4 OTOF
40 y-linked deafness 10.5 TMC1 STRC PCDH15 OTOF
41 deafness, autosomal recessive 30 10.5 PCDH15 MYO7A MYO6 MYO15A
42 branchiootorenal syndrome 10.5 SLC26A4 OTOF GJB2 EYA1
43 deafness, autosomal dominant 16 10.5 STRC MYO6
44 deafness, autosomal recessive 39 10.5 TMPRSS3 STRC LOXHD1 GJB2
45 erythrokeratodermia variabilis et progressiva 1 10.5 OTOG MYO6 GJB2
46 deafness, autosomal recessive 48 10.5 TMC1 MYO7A
47 usher syndrome, type ij 10.5 USH2A PCDH15 MYO7A CDH23 ADGRV1
48 deafness, autosomal dominant 7 10.5 TMPRSS3 MYO6
49 benign paroxysmal positional nystagmus 10.5 OTOGL OTOG
50 digenic disease 10.5 USH2A PCDH15 MYO7A CDH23 ADGRV1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ADGRV1 CDH23 EYA1 MYO15A MYO6 MYO7A
2 hearing/vestibular/ear MP:0005377 10.06 ADGRV1 CDH23 EYA1 GJB2 MYO15A MYO6
3 nervous system MP:0003631 9.83 ADGRV1 CDH23 EYA1 GJB2 MYO15A MYO6
4 vision/eye MP:0005391 9.28 ADGRV1 CDH23 EYA1 GJB2 MYO15A MYO6

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 733)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POU3F4 NM_000307.5(POU3F4):c.499C>T (p.Arg167Ter) SNV Pathogenic 43347 rs111033345 X:82763831-82763831 X:83508823-83508823
2 SLC26A4 NM_000441.2(SLC26A4):c.1149+3A>G SNV Pathogenic 43493 rs111033314 7:107329648-107329648 7:107689203-107689203
3 SLC26A4 NM_000441.1(SLC26A4):c.1342-2_1343dup Duplication Pathogenic 43506 rs111033407 7:107335064-107335067 7:107694617-107694618
4 SLC26A4 NM_000441.2(SLC26A4):c.2188C>T (p.Gln730Ter) SNV Pathogenic 43542 rs397516428 7:107350597-107350597 7:107710152-107710152
5 SLC26A4 NM_000441.2(SLC26A4):c.765+2T>C SNV Pathogenic 43567 rs397516432 7:107315556-107315556 7:107675111-107675111
6 WFS1 NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro) SNV Pathogenic 45446 rs142668478 4:6303576-6303576 4:6301849-6301849
7 WFS1 NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr) SNV Pathogenic 45447 rs397517196 4:6303663-6303663 4:6301936-6301936
8 MYO15A NM_016239.4(MYO15A):c.7006dup (p.Gln2336fs) Duplication Pathogenic 45757 rs397517286 17:18052575-18052576 17:18149261-18149262
9 MYO15A NM_016239.4(MYO15A):c.8100del (p.Lys2701fs) Deletion Pathogenic 45765 rs397517287 17:18057453-18057453 17:18154139-18154139
10 MYO15A NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter) SNV Pathogenic 45771 rs373462792 17:18060523-18060523 17:18157209-18157209
11 CDH23 NM_022124.6(CDH23):c.2012del (p.Phe671fs) Deletion Pathogenic 45886 rs397517313 10:73447428-73447428 10:71687671-71687671
12 CDH23 NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) SNV Pathogenic 45920 rs397517323 10:73485179-73485179 10:71725422-71725422
13 CDH23 NM_022124.6(CDH23):c.3628C>T (p.Gln1210Ter) SNV Pathogenic 45926 rs397517326 10:73490274-73490274 10:71730517-71730517
14 CDH23 NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) SNV Pathogenic 45929 rs397517327 10:73490352-73490352 10:71730595-71730595
15 CDH23 NM_022124.6(CDH23):c.46del (p.Val16fs) Deletion Pathogenic 45954 rs397517331 10:73199633-73199633 10:71439876-71439876
16 CDH23 NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter) SNV Pathogenic 45972 rs397517337 10:73539108-73539108 10:71779351-71779351
17 CDH23 NM_022124.6(CDH23):c.5712+1G>A SNV Pathogenic 45988 rs397517341 10:73544858-73544858 10:71785101-71785101
18 CDH23 NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) SNV Pathogenic 45989 rs397517342 10:73544857-73544857 10:71785100-71785100
19 CDH23 NM_022124.6(CDH23):c.5923+1G>A SNV Pathogenic 45995 rs397517346 10:73548800-73548800 10:71789043-71789043
20 CDH23 NM_022124.6(CDH23):c.6049+1G>A SNV Pathogenic 45999 rs111033247 10:73550171-73550171 10:71790414-71790414
21 CDH23 NM_022124.6(CDH23):c.8781C>A (p.Tyr2927Ter) SNV Pathogenic 46053 rs397517362 10:73569635-73569635 10:71809878-71809878
22 CDH23 NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) Deletion Pathogenic 46077 rs397517367 10:73572640-73572643 10:71812883-71812886
23 CDH23 NM_022124.6(CDH23):c.6968del (p.Pro2323fs) Deletion Pathogenic 46023 rs397517350 10:73558247-73558247 10:71798490-71798490
24 CDH23 NM_022124.6(CDH23):c.7776G>A (p.Trp2592Ter) SNV Pathogenic 46039 rs397517353 10:73563081-73563081 10:71803324-71803324
25 EYA1 NM_000503.6(EYA1):c.1122del (p.Leu374fs) Deletion Pathogenic 48099 rs397517916 8:72156856-72156856 8:71244621-71244621
26 EYA1 NM_000503.6(EYA1):c.1361-1G>T SNV Pathogenic 48102 rs397517917 8:72127964-72127964 8:71215729-71215729
27 OTOF NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) SNV Pathogenic 48187 rs111033383 2:26702193-26702193 2:26479325-26479325
28 USH2A NM_206933.4(USH2A):c.11048-1G>A SNV Pathogenic 48365 rs111033414 1:215933186-215933186 1:215759844-215759844
29 EYA1 NM_000503.6(EYA1):c.1697_1698insT (p.Lys566fs) Insertion Pathogenic 48104 rs397517919 8:72123391-72123392 8:71211156-71211157
30 USH2A NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter) SNV Pathogenic 48405 rs397517981 1:215848539-215848539 1:215675197-215675197
31 USH2A NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) Duplication Pathogenic 48426 rs397517988 1:215844415-215844416 1:215671073-215671074
32 USH2A-AS1 NM_007123.5(USH2A):c.4129_4130TC[4] (p.Asn1379fs) Microsatellite Pathogenic 48512 rs397518015 1:216370011-216370012 1:216196669-216196670
33 USH2A-AS2 NM_206933.4(USH2A):c.5001dup (p.Gly1668fs) Duplication Pathogenic 48526 rs397518018 1:216258205-216258206 1:216084863-216084864
34 USH2A NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) SNV Pathogenic 48554 rs111033386 1:216219874-216219874 1:216046532-216046532
35 USH2A NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) SNV Pathogenic 48579 rs397518029 1:216108014-216108014 1:215934672-215934672
36 USH2A NM_206933.4(USH2A):c.9159T>G (p.Tyr3053Ter) SNV Pathogenic 48613 rs397518042 1:216017735-216017735 1:215844393-215844393
37 USH2A NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter) SNV Pathogenic 48621 rs397518046 1:216011400-216011400 1:215838058-215838058
38 CDH23 NM_022124.6(CDH23):c.945+1G>T SNV Pathogenic 162876 rs727502919 10:73375374-73375374 10:71615617-71615617
39 EYA1 NM_000503.6(EYA1):c.1475+1G>C SNV Pathogenic 163427 rs727503042 8:72127848-72127848 8:71215613-71215613
40 LOXHD1 NM_144612.6(LOXHD1):c.2303del (p.Gly768fs) Deletion Pathogenic 163919 rs727503146 18:44146354-44146354 18:46566391-46566391
41 MYH9 NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) SNV Pathogenic 164432 rs727503284 22:36685142-36685142 22:36289096-36289096
42 MYO15A NM_016239.4(MYO15A):c.5531+1G>A SNV Pathogenic 164528 rs727503309 17:18044458-18044458 17:18141144-18141144
43 MYO15A NM_016239.4(MYO15A):c.6046+1G>A SNV Pathogenic 164536 rs201978571 17:18047111-18047111 17:18143797-18143797
44 MYO15A NM_016239.4(MYO15A):c.7226del (p.Pro2409fs) Deletion Pathogenic 164548 rs727503315 17:18053755-18053755 17:18150441-18150441
45 MYO15A NM_016239.4(MYO15A):c.7893+1G>A SNV Pathogenic 164552 rs727503316 17:18055266-18055266 17:18151952-18151952
46 OTOA NM_144672.4(OTOA):c.1688+1G>T SNV Pathogenic 164824 rs727503350 16:21730513-21730513 16:21719192-21719192
47 OTOF NM_194248.3(OTOF):c.5203del (p.Arg1735fs) Deletion Pathogenic 164835 rs727503352 2:26685039-26685039 2:26462171-26462171
48 OTOF NM_194248.3(OTOF):c.4799+1G>A SNV Pathogenic 164841 rs200147906 2:26688539-26688539 2:26465671-26465671
49 CDH23 NM_022124.6(CDH23):c.7873-2A>T SNV Pathogenic 162945 rs727502933 10:73565561-73565561 10:71805804-71805804
50 SLC26A4 NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) SNV Pathogenic 165257 rs727503428 7:107338496-107338496 7:107698051-107698051

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 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.98 USH2A STRC OTOF MYO6 MYO15A LOXHD1
2 apical plasma membrane GO:0016324 9.81 USH2A SLC26A4 OTOG MYO7A
3 photoreceptor inner segment GO:0001917 9.63 USH2A MYO7A ADGRV1
4 myosin complex GO:0016459 9.58 MYO7A MYO6 MYO15A
5 stereocilium tip GO:0032426 9.49 TMC1 STRC
6 stereocilium bundle GO:0032421 9.48 USH2A MYO15A
7 periciliary membrane compartment GO:1990075 9.37 USH2A ADGRV1
8 stereocilia ankle link complex GO:0002142 9.32 USH2A ADGRV1
9 stereocilium membrane GO:0060171 9.26 USH2A ADGRV1
10 stereocilium GO:0032420 9.17 STRC PCDH15 MYO7A MYO15A LOXHD1 CDH23
11 USH2 complex GO:1990696 9.16 USH2A ADGRV1
12 stereocilia ankle link GO:0002141 8.96 USH2A ADGRV1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.83 WFS1 USH2A MYO7A CDH23 ADGRV1
2 inner ear morphogenesis GO:0042472 9.67 MYO7A MYO6 MYO15A EYA1
3 inner ear receptor cell stereocilium organization GO:0060122 9.65 MYO7A CDH23 ADGRV1
4 vesicle transport along actin filament GO:0030050 9.63 MYO7A MYO6 MYO15A
5 inner ear development GO:0048839 9.62 PCDH15 MYO7A GJB2 ADGRV1
6 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.58 TMC1 STRC ADGRV1
7 sensory perception of sound GO:0007605 9.58 WFS1 USH2A TMPRSS3 TMC1 STRC SLC26A4
8 actin filament-based movement GO:0030048 9.56 MYO7A MYO6
9 photoreceptor cell maintenance GO:0045494 9.56 USH2A PCDH15 CDH23 ADGRV1
10 auditory receptor cell stereocilium organization GO:0060088 9.55 STRC MYO7A
11 inner ear receptor cell differentiation GO:0060113 9.54 USH2A MYO7A
12 inner ear auditory receptor cell differentiation GO:0042491 9.52 MYO7A MYO6
13 maintenance of animal organ identity GO:0048496 9.51 USH2A ADGRV1
14 L-arabinose metabolic process GO:0046373 9.49 OTOGL OTOG
15 sensory perception of light stimulus GO:0050953 9.35 USH2A PCDH15 MYO7A CDH23 ADGRV1
16 equilibrioception GO:0050957 9.33 PCDH15 MYO7A CDH23

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
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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