Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
Sources

Aliases & Classifications for Deafness, Autosomal Recessive 61

About this section

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Blood diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32


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
Sources

Summaries for Deafness, Autosomal Recessive 61

About this section
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 recessive 6 and deafness, autosomal dominant 51. 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
Sources

Related Diseases for Deafness, Autosomal Recessive 61

About this section

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
Nonsyndromic Deafness 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 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 57)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 6 10.2 TRIOBP OTOA
2 deafness, autosomal dominant 51 10.2 TPRN OTOA
3 deafness, autosomal recessive 91 10.1 TPRN PTPRQ
4 deafness, autosomal recessive 85 10.1 PTPRQ OTOA
5 deafness, autosomal recessive 2 10.1 SLC26A4 OTOF
6 deafness, autosomal dominant 2b 10.1 TRIOBP SLC26A4
7 deafness, autosomal recessive 8 10.1 SLC26A4 OTOF
8 x-linked nonsyndromic deafness 10.0 TPRN SLC26A4
9 deafness, autosomal recessive 77 10.0 SLC26A4 MYO3A
10 deafness, autosomal dominant 20 10.0 TRIOBP TPRN
11 non-syndromic genetic deafness 10.0 TRIOBP MYO3A
12 auditory neuropathy, autosomal dominant, 1 10.0 SLC17A8 OTOF
13 deafness, autosomal dominant 3b 9.9 TPRN PTPRQ OTOA
14 diastrophic dysplasia 9.9 SLC26A5 SLC26A4
15 deafness, autosomal recessive 13 9.9 MYO3A GRXCR1
16 deafness, autosomal recessive 24 9.9 TRIOBP TPRN PTPRQ
17 deafness, autosomal dominant 25 9.9 SLC17A8 OTOF
18 deafness, autosomal recessive 21 9.9 OTOF OTOA
19 deafness, autosomal dominant 1 9.8 TPRN PTPRQ MYO3A
20 deafness, autosomal recessive 9 9.8 SLC26A4 SLC17A8 OTOF
21 pendred syndrome 9.8 SLC26A5 SLC26A4 OTOF
22 deafness, autosomal recessive 37 9.8 TRIOBP TPRN MYO3A
23 usher syndrome, type iia 9.8 SLC26A4 OTOF
24 deafness, autosomal dominant 17 9.8 OTOF MYO3A
25 deafness, autosomal recessive 7 9.8 SLC26A4 OTOF OTOA
26 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 SLC17A8 PTPRQ
27 deafness, autosomal recessive 25 9.7 TRIOBP PTPRQ GRXCR1
28 deafness, autosomal recessive 35 9.7 TRIOBP OTOA GRXCR1
29 deafness, autosomal dominant 27 9.7 STRC GRXCR1
30 deafness, autosomal dominant 22 9.5 TRIOBP TPRN PTPRQ MYO3A
31 deafness, autosomal recessive 79 9.5 TPRN PTPRQ MYO3A GRXCR1
32 deafness, autosomal recessive 83 9.5 SLC26A4 PTPRQ OTOF OTOA
33 usher syndrome 9.5 STRC SLC26A4 OTOF
34 autosomal recessive nonsyndromic deafness 36 9.4 TRIOBP TPRN MYO3A GRXCR1
35 hodgkin's lymphoma, nodular sclerosis 9.4 STRC SLC26A4 OTOF
36 vestibular disease 9.4 STRC SLC26A4 OTOF
37 branchiootic syndrome 1 9.4 SLC26A4 PTPRQ OTOF GRXCR1
38 deafness, autosomal recessive 66 9.3 TPRN STRC PTPRQ OTOA
39 usher syndrome, type id 9.3 TRIOBP STRC SLC26A4 PTPRQ
40 deafness, autosomal recessive 39 9.2 TRIOBP STRC PTPRQ OTOA
41 autosomal recessive nonsyndromic deafness 3 9.1 TPRN SLC26A4 OTOF OTOA MYO3A
42 deafness, autosomal recessive 16 9.1 STRC PTPRQ OTOF OTOA
43 deafness, autosomal recessive 28 9.1 TRIOBP TPRN OTOF OTOA GRXCR1
44 deafness, autosomal recessive 1a 8.9 STRC SLC26A4 SLC17A8 OTOF OTOA
45 deafness, autosomal recessive 12 8.8 TRIOBP STRC SLC26A4 OTOF OTOA
46 deafness, autosomal recessive 22 8.8 TRIOBP STRC PTPRQ OTOF OTOA
47 deafness, autosomal recessive 8.7 TPRN PTPRQ OTOF OTOA MYO3A GRXCR1
48 usher syndrome type 2 8.5 STRC SLC26A4 PTPRQ OTOF OTOA MYO3A
49 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 8.4 TRIOBP STRC SLC26A4 OTOF OTOA MYO3A
50 rare genetic deafness 8.4 STRC SLC26A4 OTOF OTOA MYO3A GRXCR1

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



Diseases related to Deafness, Autosomal Recessive 61
Sources

Symptoms & Phenotypes for Deafness, Autosomal Recessive 61

About this section

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 GRXCR1 MYO3A OTOA OTOF PTPRQ SLC17A8
2 nervous system MP:0003631 9.36 GRXCR1 MYO3A OTOA OTOF PTPRQ SLC17A8
Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 61

About this section

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

Sources

Genetic Tests for Deafness, Autosomal Recessive 61

About this section

Genetic tests related to Deafness, Autosomal Recessive 61:

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

Anatomical Context for Deafness, Autosomal Recessive 61

About this section

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

40
Brain
Sources

Publications for Deafness, Autosomal Recessive 61

About this section

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. 56 6
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
Sources

Variations for Deafness, Autosomal Recessive 61

About this section

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.448C>T (p.Arg150Ter)SNV Uncertain significance 631991 rs757994723 7:103051989-103051989 7:103411542-103411542
4 SLC26A5 NM_198999.3(SLC26A5):c.1312-1G>CSNV Uncertain significance 631990 rs1563529062 7:103029872-103029872 7:103389425-103389425
5 SLC26A5 NM_198999.3(SLC26A5):c.-53-2A>GSNV Benign 5289 rs116900495 7:103062016-103062016 7:103421569-103421569
Sources

Expression for Deafness, Autosomal Recessive 61

About this section
Search GEO for disease gene expression data for Deafness, Autosomal Recessive 61.
Sources

Pathways for Deafness, Autosomal Recessive 61

About this section
Sources

GO Terms for Deafness, Autosomal Recessive 61

About this section

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 9.16 STRC MYO3A
2 kinocilium GO:0060091 8.96 STRC GRXCR1
3 stereocilium GO:0032420 8.92 TPRN STRC MYO3A GRXCR1

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 9.46 SLC26A5 SLC26A4
2 bicarbonate transport GO:0015701 9.43 SLC26A5 SLC26A4
3 cochlea development GO:0090102 9.4 SLC26A5 SLC17A8
4 sulfate transport GO:0008272 9.37 SLC26A5 SLC26A4
5 sulfate transmembrane transport GO:1902358 9.32 SLC26A5 SLC26A4
6 sensory perception of sound GO:0007605 9.32 TRIOBP TPRN STRC SLC26A5 SLC26A4 SLC17A8
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.26 STRC PTPRQ
8 auditory receptor cell stereocilium organization GO:0060088 9.16 TRIOBP STRC
9 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 sulfate transmembrane transporter activity GO:0015116 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

Sources for Deafness, Autosomal Recessive 61

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....