MCID: DFN003
MIFTS: 20

Deafness and Hereditary Hearing Loss malady

Genetic diseases (common), Ear diseases categories

Summaries for Deafness and Hereditary Hearing Loss

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20GeneReviews, 34MalaCards
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MalaCards: Deafness and Hereditary Hearing Loss, also known as dystonia 1, torsion, autosomal dominant, is related to nonsyndromic hearing loss and deafness, mitochondrial and sensorineural hearing loss. An important gene associated with Deafness and Hereditary Hearing Loss is MT-TS1 (mitochondrially encoded tRNA serine 1 (UCN)). Related mouse phenotypes are nervous system and behavior/neurological.

GeneReviews summary for deafness-overview

Aliases & Classifications for Deafness and Hereditary Hearing Loss

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20GeneReviews, 21GeneTests, 23GTR, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Ear diseases


Aliases & Descriptions:

deafness and hereditary hearing loss 20 21 23
dystonia 1, torsion, autosomal dominant 63


Related Diseases for Deafness and Hereditary Hearing Loss

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18GeneCards, 19GeneDecks
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Diseases related to Deafness and Hereditary Hearing Loss via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1nonsyndromic hearing loss and deafness, mitochondrial10.0MT-RNR1, MT-TS1
2sensorineural hearing loss9.9POU4F3, POU3F4, STRC
3nonsyndromic deafness9.8STRC, POU3F4, POU4F3, TMIE, DFNB59

Symptoms for Deafness and Hereditary Hearing Loss

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Drugs & Therapeutics for Deafness and Hereditary Hearing Loss

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Deafness and Hereditary Hearing Loss

Drug clinical trials:

Search ClinicalTrials for Deafness and Hereditary Hearing Loss

Search NIH Clinical Center for Deafness and Hereditary Hearing Loss

Search CenterWatch for Deafness and Hereditary Hearing Loss

Genetic Tests for Deafness and Hereditary Hearing Loss

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21GeneTests, 23GTR
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Genetic tests related to Deafness and Hereditary Hearing Loss:

id Genetic test Affiliating Genes
1 Hereditary Hearing Loss and Deafness21 23

Anatomical Context for Deafness and Hereditary Hearing Loss

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Animal Models for Deafness and Hereditary Hearing Loss or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Deafness and Hereditary Hearing Loss:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.8MIR96, STRC, POU4F3, TMIE, DFNB59
2MP:00053867.3DFNB59, TMIE, POU4F3, POU3F4, MIR96
3MP:00053777.1MIR96, STRC, POU3F4, POU4F3, TMIE, DFNB59

Publications for Deafness and Hereditary Hearing Loss

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53PubMed
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Articles related to Deafness and Hereditary Hearing Loss:

idTitleAuthorsYear
1
Deafness and Hereditary Hearing Loss Overview (20301607)
1993

Variations for Deafness and Hereditary Hearing Loss

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Deafness and Hereditary Hearing Loss:

1 (show all 81)
id Gene Name Type Significance SNP ID Assembly Location
1GJB2NM_004004.5(GJB2): c.101T> C (p.Met34Thr)single nucleotide variantPathogenicrs35887622GRCh37Chr 13, 20763620: 20763620
2GJB2NM_004004.5(GJB2): c.231G> A (p.Trp77Ter)single nucleotide variantPathogenicrs80338944GRCh37Chr 13, 20763490: 20763490
3GJB2NM_004004.5(GJB2): c.71G> A (p.Trp24Ter)single nucleotide variantPathogenicrs104894396GRCh37Chr 13, 20763650: 20763650
4GJB2NM_004004.5(GJB2): c.229T> C (p.Trp77Arg)single nucleotide variantPathogenicrs104894397GRCh37Chr 13, 20763492: 20763492
5GJB2NM_004004.5(GJB2): c.35delG (p.Gly12Valfs)deletionPathogenicrs80338939GRCh37Chr 13, 20763686: 20763686
6GJB2NM_004004.5(GJB2): c.139G> T (p.Glu47Ter)single nucleotide variantPathogenicrs104894398GRCh37Chr 13, 20763582: 20763582
7GJB2NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del)deletionPathogenicrs80338947GRCh37Chr 13, 20763361: 20763363
8GJB2NM_004004.5(GJB2): c.551G> C (p.Arg184Pro)single nucleotide variantPathogenicrs80338950GRCh37Chr 13, 20763170: 20763170
9GJB2NM_004004.5(GJB2): c.427C> T (p.Arg143Trp)single nucleotide variantPathogenicrs80338948GRCh37Chr 13, 20763294: 20763294
10GJB2NM_004004.5(GJB2): c.167delT (p.Leu56Argfs)deletionPathogenicrs80338942GRCh37Chr 13, 20763554: 20763554
11GJB2NM_004004.5(GJB2): c.223C> T (p.Arg75Trp)single nucleotide variantPathogenicrs104894402GRCh37Chr 13, 20763498: 20763498
12GJB2NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs)deletionPathogenicrs80338943GRCh37Chr 13, 20763486: 20763486
13GJB2NM_004004.5(GJB2): c.269T> C (p.Leu90Pro)single nucleotide variantPathogenicrs80338945GRCh37Chr 13, 20763452: 20763452
14GJB2NM_004004.5(GJB2): c.109G> A (p.Val37Ile)single nucleotide variantPathogenicrs72474224GRCh37Chr 13, 20763612: 20763612
15GJB2NM_004004.5(GJB2): c.-23+1G> Asingle nucleotide variantPathogenicrs80338940GRCh37Chr 13, 20766921: 20766921
16GJB2NM_004004.5(GJB2): c.250G> C (p.Val84Leu)single nucleotide variantPathogenicrs104894409GRCh37Chr 13, 20763471: 20763471
17GJB2NM_004004.5(GJB2): c.250G> A (p.Val84Met)single nucleotide variantPathogenicrs104894409GRCh37Chr 13, 20763471: 20763471
18GJB2NM_004004.5(GJB2): c.35G> T (p.Gly12Val)single nucleotide variantLikely pathogenic, Pathogenicrs1801002GRCh37Chr 13, 20763686: 20763686
19OTOFNM_194248.2(OTOF): c.2122C> T (p.Arg708Ter)single nucleotide variantPathogenicrs80356590GRCh37Chr 2, 26702224: 26702224
20OTOFNM_194248.2(OTOF): c.2348delG (p.Gly783Alafs)deletionPathogenicrs80356591GRCh37Chr 2, 26700342: 26700342
21TMC1NM_138691.2(TMC1): c.100C> T (p.Arg34Ter)single nucleotide variantPathogenicrs121908073GRCh37Chr 9, 75309494: 75309494
22NM_000441.1(SLC26A4): c.-3-2A> Gsingle nucleotide variantPathogenicrs397516411GRCh37Chr 7, 107302082: 107302082
23SLC26A4NM_000441.1(SLC26A4): c.1149+3A> Gsingle nucleotide variantPathogenicrs111033314GRCh37Chr 7, 107329648: 107329648
24SLC26A4NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs)deletionPathogenicrs397516413GRCh37Chr 7, 107330617: 107330617
25SLC26A4NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His)single nucleotide variantPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
26SLC26A4NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met)single nucleotide variantPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
27SLC26A4NM_000441.1(SLC26A4): c.1264-1G> Csingle nucleotide variantPathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
28SLC26A4NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)single nucleotide variantPathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
29SLC26A4NM_000441.1(SLC26A4): c.1341+1delGdeletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
30SLC26A4NM_000441.1(SLC26A4): c.1437+2T> Gsingle nucleotide variantPathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
31SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
32SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Asingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
33SLC26A4NM_000441.1(SLC26A4): c.164+2T> Csingle nucleotide variantPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
34SLC26A4NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)single nucleotide variantPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
35SLC26A4NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)single nucleotide variantPathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
36SLC26A4NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)single nucleotide variantPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
37NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
38NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter)single nucleotide variantPathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
39SLC26A4NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp)single nucleotide variantPathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
40SLC26A4NM_000441.1(SLC26A4): c.765+2T> Csingle nucleotide variantPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
41CDH23NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs)deletionPathogenicrs397517313GRCh37Chr 10, 73447429: 73447429
42NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter)single nucleotide variantPathogenicrs397517323GRCh37Chr 10, 73485179: 73485179
43NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter)single nucleotide variantPathogenicrs397517326GRCh37Chr 10, 73490274: 73490274
44NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter)single nucleotide variantPathogenicrs397517327GRCh37Chr 10, 73490352: 73490352
45CDH23NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter)single nucleotide variantPathogenicrs397517329GRCh37Chr 10, 73498354: 73498354
46CDH23NM_022124.5(CDH23): c.46delG (p.Val16Cysfs)deletionPathogenicrs397517331GRCh37Chr 10, 73199634: 73199634
47CDH23NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter)single nucleotide variantPathogenicrs397517337GRCh37Chr 10, 73539108: 73539108
48CDH23NM_022124.5(CDH23): c.5712+1G> Asingle nucleotide variantPathogenicrs397517341GRCh37Chr 10, 73544858: 73544858
49CDH23NM_022124.5(CDH23): c.5712G> A (p.Thr1904=)single nucleotide variantPathogenicrs397517342GRCh37Chr 10, 73544857: 73544857
50CDH23NM_022124.5(CDH23): c.5923+1G> Asingle nucleotide variantPathogenicrs397517346GRCh37Chr 10, 73548800: 73548800
51CDH23NM_022124.5(CDH23): c.6049+1G> Asingle nucleotide variantPathogenicrs111033247GRCh37Chr 10, 73550171: 73550171
52CDH23NM_022124.5(CDH23): c.6050-9G> Asingle nucleotide variantPathogenicrs367928692GRCh37Chr 10, 73550880: 73550880
53CDH23NM_022124.5(CDH23): c.6968delC (p.Pro2323Leufs)deletionPathogenicrs397517350GRCh37Chr 10, 73558249: 73558249
54CDH23NM_022124.5(CDH23): c.7776G> A (p.Trp2592Ter)single nucleotide variantPathogenicrs397517353GRCh37Chr 10, 73563081: 73563081
55CDH23NM_022124.5(CDH23): c.8781C> A (p.Tyr2927Ter)single nucleotide variantPathogenicrs397517362GRCh37Chr 10, 73569635: 73569635
56CDH23NM_022124.5(CDH23): c.9629_9632delTCAA (p.Ile3210Argfs)deletionPathogenicrs397517367GRCh37Chr 10, 73572643: 73572646
57PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
58PCDH15NM_033056.3(PCDH15): c.1998-2A> Gsingle nucleotide variantPathogenicrs397517452GRCh37Chr 10, 55839186: 55839186
59PCDH15NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter)single nucleotide variantPathogenicrs202033121GRCh37Chr 10, 55698632: 55698632
60SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
61SLC26A4NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro)single nucleotide variantPathogenicrs80338848GRCh37Chr 7, 107315496: 107315496
62SLC26A4NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro)single nucleotide variantPathogenicrs28939086GRCh37Chr 7, 107330665: 107330665
63SLC26A4NM_000441.1(SLC26A4): c.1001+1G> Asingle nucleotide variantPathogenicrs80338849GRCh37Chr 7, 107323983: 107323983
64SLC26A4NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly)single nucleotide variantPathogenicrs111033244GRCh37Chr 7, 107330570: 107330570
65SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)single nucleotide variantPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
66SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)single nucleotide variantPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
67OTOFNM_194248.2(OTOF): c.5098G> C (p.Glu1700Gln)single nucleotide variantLikely pathogenic, Pathogenicrs199766465GRCh37Chr 2, 26686837: 26686837
68SLC26A4NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)single nucleotide variantPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
69SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)single nucleotide variantPathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
70SLC26A4NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe)single nucleotide variantPathogenicrs111033199GRCh37Chr 7, 107312690: 107312690
71SLC26A4NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His)single nucleotide variantPathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
72NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)single nucleotide variantPathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
73SLC26A4NM_000441.1(SLC26A4): c.919-2A> Gsingle nucleotide variantPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
74SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
75CDH23NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln)single nucleotide variantPathogenicrs111033270GRCh37Chr 10, 73539073: 73539073
76CDH23NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn)single nucleotide variantPathogenicrs111033271GRCh37Chr 10, 73553127: 73553127
77PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
78USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
79USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)single nucleotide variantPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
80OTOFNM_194248.2(OTOF): c.2485C> T (p.Gln829Ter)single nucleotide variantPathogenicrs80356593GRCh37Chr 2, 26700078: 26700078
81NM_004086.2(COCH): c.151C> T (p.Pro51Ser)single nucleotide variantPathogenicrs28938175GRCh37Chr 14, 31346846: 31346846

Expression for genes affiliated with Deafness and Hereditary Hearing Loss

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Deafness and Hereditary Hearing Loss

Search GEO for disease gene expression data for Deafness and Hereditary Hearing Loss.

Pathways for genes affiliated with Deafness and Hereditary Hearing Loss

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Compounds for genes affiliated with Deafness and Hereditary Hearing Loss

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GO Terms for genes affiliated with Deafness and Hereditary Hearing Loss

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Sources:
17Gene Ontology
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Biological processes related to Deafness and Hereditary Hearing Loss according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:0424729.1POU4F3, TMIE
2sensory perception of soundGO:0076057.7POU3F4, POU4F3, TMIE, DFNB59

Products for genes affiliated with Deafness and Hereditary Hearing Loss

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Deafness and Hereditary Hearing Loss

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet