DFNB61
MCID: DFN188
MIFTS: 21

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 57 29 13 6 72
Dfnb61 57 12 74
Autosomal Recessive Nonsyndromic Deafness 61 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61 74
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61 74
Deafness, Autosomal Recessive, Type 61 40
Deafness, Autosomal Recessive, 61 74
Autosomal Recessive Deafness 61 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
deafness, autosomal recessive 61:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110513
MeSH 44 D006319
ICD10 33 H90.3
MedGen 42 C3151230
UMLS 72 C3151230

Summaries for Deafness, Autosomal Recessive 61

UniProtKB/Swiss-Prot : 74 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, is also known as dfnb61. An important gene associated with Deafness, Autosomal Recessive 61 is SLC26A5 (Solute Carrier Family 26 Member 5). Affiliated tissues include brain, and related phenotype is sensorineural hearing impairment.

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
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 Familial Deafness

Symptoms & Phenotypes for Deafness, Autosomal Recessive 61

Human phenotypes related to Deafness, Autosomal Recessive 61:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, bilateral, moderate-to-profound

Clinical features from OMIM:

613865

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:

41
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. 8 71
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. 8 71
24164807 2013
3
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. 8 71
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. 71
16086836 2005
5
The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein. 38
27041369 2016

Variations for Deafness, Autosomal Recessive 61

ClinVar genetic disease variations for Deafness, Autosomal Recessive 61:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC26A5 NM_206883.3(SLC26A5): c.390A> C (p.Arg130Ser) single nucleotide variant Pathogenic rs431905517 7:103053462-103053462 7:103413015-103413015
2 SLC26A5 NM_206883.3(SLC26A5): c.209G> A (p.Trp70Ter) single nucleotide variant Pathogenic rs431905518 7:103061268-103061268 7:103420821-103420821
3 SLC26A5 NM_206883.3(SLC26A5): c.448C> T (p.Arg150Ter) single nucleotide variant Uncertain significance 7:103051989-103051989 7:103411542-103411542
4 SLC26A5 NM_206883.3(SLC26A5): c.1312-1G> C single nucleotide variant Uncertain significance 7:103029872-103029872 7:103389425-103389425
5 SLC26A5 NM_206883.3(SLC26A5): c.-53-2A> G single nucleotide variant Benign 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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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