DFNB61
MCID: DFN188
MIFTS: 32

Deafness, Autosomal Recessive 61 (DFNB61)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Recessive 61

MalaCards integrated aliases for Deafness, Autosomal Recessive 61:

Name: Deafness, Autosomal Recessive 61 57 29 13 6 71
Dfnb61 57 12 73
Autosomal Recessive Nonsyndromic Deafness 61 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61 73
Deafness, Autosomal Recessive, Type 61 39
Deafness, Autosomal Recessive, 61 73
Autosomal Recessive Deafness 61 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
limited clinical information provided
one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015)


HPO:

31
deafness, autosomal recessive 61:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110513
OMIM® 57 613865
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C3151230
SNOMED-CT via HPO 68 258211005 60700002
UMLS 71 C3151230

Summaries for Deafness, Autosomal Recessive 61

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 61: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Recessive 61, also known as dfnb61, is related to deafness, autosomal dominant 51 and deafness, autosomal dominant 3b. An important gene associated with Deafness, Autosomal Recessive 61 is SLC26A5 (Solute Carrier Family 26 Member 5). Related phenotypes are sensorineural hearing impairment and behavior/neurological

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the SLC26A5 gene on chromosome 7q22.

More information from OMIM: 613865 PS220290

Related Diseases for Deafness, Autosomal Recessive 61

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15 Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20 Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25 Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39 Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108 Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 61 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 51 10.1 TPRN OTOA
2 deafness, autosomal dominant 3b 10.1 TPRN OTOA
3 deafness, autosomal recessive 91 10.1 TPRN OTOA
4 deafness, autosomal dominant 20 10.1 TPRN SLC26A4
5 auditory neuropathy, autosomal dominant, 1 10.1 SLC17A8 OTOF
6 deafness, autosomal recessive 6 10.1 TRIOBP OTOA
7 deafness, autosomal recessive 85 10.1 OTOF OTOA
8 deafness, autosomal recessive 7 10.0 SLC26A4 OTOF
9 deafness, x-linked 3 10.0 TRIOBP TPRN
10 deafness, autosomal dominant 6 10.0 TECTA SLC26A4
11 diastrophic dysplasia 10.0 SLC26A5 SLC26A4
12 deafness, autosomal recessive 21 10.0 TECTA OTOA
13 deafness, autosomal recessive 66 10.0 PTPRQ OTOA
14 deafness, autosomal recessive 42 10.0 TECTA PTPRQ
15 deafness, autosomal recessive 35 10.0 TRIOBP OTOA
16 deafness, autosomal dominant 25 10.0 SLC26A5 SLC17A8 OTOF
17 deafness, autosomal dominant 36 10.0 SLC26A4 OTOF
18 deafness, autosomal dominant 12 10.0 TECTA OTOA
19 deafness, autosomal recessive 93 9.9 TRIOBP OTOF
20 deafness, autosomal recessive 1b 9.9 TPRN TECTA OTOA
21 pendred syndrome 9.9 SLC26A5 SLC26A4 OTOF
22 vestibular disease 9.9 SLC26A4 OTOF
23 x-linked nonsyndromic deafness 9.9 TPRN SLC26A4 OTOF
24 deafness, autosomal recessive 77 9.9 SLC26A4 MYO3A
25 deafness, autosomal recessive 79 9.9 TPRN MYO3A
26 deafness, autosomal recessive 83 9.9 SLC26A4 OTOF OTOA
27 deafness, autosomal dominant 17 9.9 TPRN MYO3A
28 usher syndrome, type iia 9.8 SLC26A4 OTOF OTOA
29 erythrokeratodermia variabilis et progressiva 1 9.8 TECTA OTOA
30 deafness, autosomal recessive 24 9.8 TRIOBP TPRN TECTA
31 branchiootic syndrome 1 9.8 SLC26A4 PTPRQ OTOF
32 deafness, autosomal recessive 39 9.7 TRIOBP PTPRQ OTOA
33 branchiootorenal syndrome 9.7 SLC26A4 OTOF
34 autosomal recessive nonsyndromic deafness 36 9.6 TRIOBP TPRN MYO3A
35 deafness, autosomal recessive 16 9.6 SLC26A4 PTPRQ OTOF OTOA
36 deafness, autosomal recessive 1a 9.5 TRIOBP SLC26A4 OTOF OTOA
37 deafness, autosomal recessive 22 9.5 TRIOBP TECTA PTPRQ OTOA
38 non-syndromic genetic deafness 9.5 TRIOBP OTOF MYO3A
39 autosomal recessive nonsyndromic deafness 3 9.5 TPRN SLC26A4 OTOF MYO3A
40 deafness, autosomal recessive 2 9.4 TECTA SLC26A4 OTOF MYO3A
41 rare genetic deafness 9.4 SLC26A4 OTOF OTOA MYO3A
42 usher syndrome, type id 9.4 TPRN TECTA SLC26A4 PTPRQ OTOF
43 autosomal dominant non-syndromic sensorineural deafness type dfna 9.4 TECTA SLC26A4 SLC17A8 PTPRQ OTOF
44 deafness, autosomal recessive 9 9.4 TRIOBP TECTA SLC26A4 SLC17A8 OTOF
45 usher syndrome type 2 9.3 TECTA SLC26A4 PTPRQ OTOF OTOA
46 deafness, autosomal recessive 37 9.3 TRIOBP TPRN PTPRQ MYO3A
47 deafness, autosomal dominant 22 9.3 TRIOBP TPRN PTPRQ MYO3A
48 deafness, autosomal recessive 28 9.3 TRIOBP TPRN TECTA OTOF OTOA
49 deafness, autosomal dominant 1, with or without thrombocytopenia 9.1 TRIOBP TPRN TECTA PTPRQ MYO3A
50 nonsyndromic hearing loss 9.1 TRIOBP TECTA SLC26A4 OTOF MYO3A

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 61:



Diseases related to Deafness, Autosomal Recessive 61

Symptoms & Phenotypes for Deafness, Autosomal Recessive 61

Human phenotypes related to Deafness, Autosomal Recessive 61:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Ears:
hearing loss, bilateral, moderate-to-profound

Clinical features from OMIM®:

613865 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 61:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 MYO3A OTOF PTPRQ SLC17A8 SLC26A4 TECTA
2 hearing/vestibular/ear MP:0005377 9.65 MYO3A OTOA OTOF PTPRQ SLC17A8 SLC26A4
3 nervous system MP:0003631 9.32 MYO3A OTOA OTOF PTPRQ SLC17A8 SLC26A4

Drugs & Therapeutics for Deafness, Autosomal Recessive 61

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 61

Genetic Tests for Deafness, Autosomal Recessive 61

Genetic tests related to Deafness, Autosomal Recessive 61:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 61 29 SLC26A5

Anatomical Context for Deafness, Autosomal Recessive 61

Publications for Deafness, Autosomal Recessive 61

Articles related to Deafness, Autosomal Recessive 61:

# Title Authors PMID Year
1
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. 57 6
24164807 2013
2
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 57
25262649 2014
3
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. 57
12719379 2003
4
The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein. 61
27041369 2016

Variations for Deafness, Autosomal Recessive 61

ClinVar genetic disease variations for Deafness, Autosomal Recessive 61:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC26A5 NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser) SNV Pathogenic 97020 rs431905517 7:103053462-103053462 7:103413015-103413015
2 SLC26A5 NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter) SNV Pathogenic 97021 rs431905518 7:103061268-103061268 7:103420821-103420821
3 SLC26A5 NM_198999.3(SLC26A5):c.-53-2A>G SNV Likely benign 5289 rs116900495 7:103062016-103062016 7:103421569-103421569
4 SLC26A5 NM_198999.3(SLC26A5):c.292+8_292+9insGA Insertion Likely benign 994043 7:103061176-103061177 7:103420729-103420730
5 SLC26A5 NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) SNV Benign 165272 rs141952919 7:103061825-103061825 7:103421378-103421378

Expression for Deafness, Autosomal Recessive 61

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 61.

Pathways for Deafness, Autosomal Recessive 61

GO Terms for Deafness, Autosomal Recessive 61

Cellular components related to Deafness, Autosomal Recessive 61 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.96 TPRN MYO3A
2 stereocilium base GO:0120044 8.62 TRIOBP TPRN

Biological processes related to Deafness, Autosomal Recessive 61 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anion transmembrane transport GO:0098656 9.43 SLC26A5 SLC26A4
2 bicarbonate transport GO:0015701 9.4 SLC26A5 SLC26A4
3 cochlea development GO:0090102 9.37 SLC26A5 SLC17A8
4 sulfate transmembrane transport GO:1902358 9.32 SLC26A5 SLC26A4
5 sensory perception of sound GO:0007605 9.28 TRIOBP TPRN TECTA SLC26A5 SLC26A4 SLC17A8
6 sulfate transport GO:0008272 9.26 SLC26A5 SLC26A4
7 auditory receptor cell stereocilium organization GO:0060088 9.16 TRIOBP TPRN
8 oxalate transport GO:0019532 8.96 SLC26A5 SLC26A4

Molecular functions related to Deafness, Autosomal Recessive 61 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.37 SLC26A5 SLC26A4
2 chloride transmembrane transporter activity GO:0015108 9.32 SLC26A5 SLC26A4
3 bicarbonate transmembrane transporter activity GO:0015106 9.26 SLC26A5 SLC26A4
4 sulfate transmembrane transporter activity GO:0015116 9.16 SLC26A5 SLC26A4
5 secondary active sulfate transmembrane transporter activity GO:0008271 8.96 SLC26A5 SLC26A4
6 oxalate transmembrane transporter activity GO:0019531 8.62 SLC26A5 SLC26A4

Sources for Deafness, Autosomal Recessive 61

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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