DFNB61
MCID: DFN188
MIFTS: 33

Deafness, Autosomal Recessive 61 (DFNB61)

Categories: Blood diseases, 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 56 29 13 6 71
Dfnb61 56 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:

56
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 56 613865
OMIM Phenotypic Series 56 PS220290
MeSH 43 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 recessive 6. An important gene associated with Deafness, Autosomal Recessive 61 is SLC26A5 (Solute Carrier Family 26 Member 5). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

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 Dominant 1 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 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 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 66)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 51 10.2 TPRN TECTA
2 deafness, autosomal recessive 6 10.1 TRIOBP OTOA
3 deafness, autosomal dominant 20 10.1 TPRN SLC26A4
4 deafness, x-linked 3 10.1 TRIOBP TPRN
5 deafness, autosomal recessive 21 10.1 TECTA OTOA
6 deafness, autosomal dominant 16 10.1 STRC SLC17A8
7 deafness, autosomal dominant 6 10.1 TECTA SLC26A4
8 deafness, autosomal recessive 18b 10.1 TECTA STRC
9 deafness, autosomal recessive 1b 10.1 TPRN STRC
10 deafness, autosomal recessive 42 10.0 TECTA PTPRQ
11 deafness, autosomal dominant 31 10.0 TECTA MYO3A
12 diastrophic dysplasia 10.0 SLC26A5 SLC26A4
13 deafness, autosomal recessive 35 10.0 TRIOBP OTOA
14 deafness, autosomal recessive 77 10.0 SLC26A4 MYO3A
15 deafness, autosomal dominant 3b 10.0 TPRN TECTA OTOA
16 deafness, autosomal dominant 17 10.0 TPRN MYO3A
17 deafness, autosomal recessive 91 10.0 TPRN TECTA OTOA
18 autosomal dominant non-syndromic sensorineural deafness type dfna 9.9 TECTA SLC17A8 PTPRQ
19 otospondylomegaepiphyseal dysplasia, autosomal recessive 9.9 TECTA STRC
20 auditory neuropathy, autosomal dominant, 1 9.9 SLC17A8 OTOF
21 deafness, autosomal recessive 24 9.9 TRIOBP TPRN TECTA
22 deafness, autosomal dominant 25 9.8 SLC17A8 OTOF
23 usher syndrome, type iic 9.8 STRC PTPRQ
24 deafness, autosomal dominant 36 9.8 SLC26A4 OTOF
25 deafness, x-linked 2 9.7 STRC SLC26A4
26 y-linked deafness 9.7 STRC OTOF
27 y-linked monogenic disease 9.7 STRC OTOF
28 deafness, autosomal recessive 66 9.7 STRC PTPRQ OTOA
29 deafness, autosomal recessive 79 9.7 TPRN PTPRQ MYO3A
30 deafness, autosomal recessive 93 9.7 TRIOBP OTOF
31 deafness, autosomal dominant 22 9.7 TPRN PTPRQ MYO3A
32 vestibular disease 9.7 SLC26A4 OTOF
33 autosomal recessive nonsyndromic deafness 36 9.7 TRIOBP TPRN MYO3A
34 pendred syndrome 9.7 SLC26A5 SLC26A4 OTOF
35 non-syndromic genetic deafness 9.6 TRIOBP TECTA MYO3A
36 deafness, autosomal recessive 7 9.6 SLC26A4 OTOF OTOA
37 deafness, autosomal recessive 85 9.5 PTPRQ OTOF OTOA
38 usher syndrome, type id 9.5 TECTA STRC SLC26A4 PTPRQ
39 usher syndrome, type iia 9.5 STRC SLC26A4 OTOF
40 deafness, autosomal recessive 9 9.4 TECTA SLC26A4 SLC17A8 OTOF
41 x-linked nonsyndromic deafness 9.4 TPRN TECTA SLC26A4 OTOF
42 deafness, autosomal recessive 39 9.4 TRIOBP STRC PTPRQ OTOA
43 branchiootorenal syndrome 9.4 SLC26A4 OTOF
44 deafness, autosomal recessive 37 9.4 TRIOBP TPRN PTPRQ MYO3A
45 branchiootic syndrome 1 9.3 TECTA SLC26A4 PTPRQ OTOF
46 deafness, autosomal recessive 83 9.3 SLC26A4 PTPRQ OTOF OTOA
47 deafness, autosomal recessive 1a 9.2 STRC SLC26A4 OTOF OTOA
48 deafness, autosomal recessive 2 9.2 TECTA SLC26A4 OTOF MYO3A
49 deafness, autosomal dominant 1 9.1 TRIOBP TPRN TECTA PTPRQ MYO3A
50 deafness, autosomal recessive 28 9.0 TRIOBP TPRN TECTA OTOF OTOA

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:

56
Head And Neck Ears:
hearing loss, bilateral, moderate-to-profound

Clinical features from OMIM:

613865

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 61:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.7 MYO3A OTOA OTOF PTPRQ SLC17A8 SLC26A4
2 nervous system MP:0003631 9.36 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

MalaCards organs/tissues related to Deafness, Autosomal Recessive 61:

40
Brain

Publications for Deafness, Autosomal Recessive 61

Articles related to Deafness, Autosomal Recessive 61:

# Title Authors PMID Year
1
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 56 6
25262649 2014
2
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. 56 6
24164807 2013
3
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. 6 56
12719379 2003
4
High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss. 6
16086836 2005
5
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.137T>C (p.Leu46Pro)SNV Conflicting interpretations of pathogenicity 165272 rs141952919 7:103061825-103061825 7:103421378-103421378
4 SLC26A5 NM_198999.3(SLC26A5):c.448C>T (p.Arg150Ter)SNV Uncertain significance 631991 rs757994723 7:103051989-103051989 7:103411542-103411542
5 SLC26A5 NM_198999.3(SLC26A5):c.1312-1G>CSNV Uncertain significance 631990 rs1563529062 7:103029872-103029872 7:103389425-103389425
6 SLC26A5 NM_198999.3(SLC26A5):c.-53-2A>GSNV Benign 5289 rs116900495 7:103062016-103062016 7:103421569-103421569

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 tip GO:0032426 8.96 STRC MYO3A
2 stereocilium GO:0032420 8.8 TPRN STRC MYO3A

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 9.48 SLC26A5 SLC26A4
2 bicarbonate transport GO:0015701 9.46 SLC26A5 SLC26A4
3 cochlea development GO:0090102 9.43 SLC26A5 SLC17A8
4 cell-matrix adhesion GO:0007160 9.43 TECTA STRC OTOA
5 sulfate transport GO:0008272 9.4 SLC26A5 SLC26A4
6 sulfate transmembrane transport GO:1902358 9.37 SLC26A5 SLC26A4
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.32 STRC PTPRQ
8 sensory perception of sound GO:0007605 9.32 TRIOBP TPRN TECTA STRC SLC26A5 SLC26A4
9 oxalate transport GO:0019532 9.16 SLC26A5 SLC26A4
10 auditory receptor cell stereocilium organization GO:0060088 9.13 TRIOBP TPRN STRC

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 sulfate transmembrane transporter activity GO:0015116 9.32 SLC26A5 SLC26A4
3 chloride transmembrane transporter activity GO:0015108 9.26 SLC26A5 SLC26A4
4 bicarbonate transmembrane transporter activity GO:0015106 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
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
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