MCID: DFN193
MIFTS: 21

Deafness, Autosomal Dominant 6/14/38

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

Aliases & Classifications for Deafness, Autosomal Dominant 6/14/38

MalaCards integrated aliases for Deafness, Autosomal Dominant 6/14/38:

Name: Deafness, Autosomal Dominant 6/14/38 54 13
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6 71
Deafness, Autosomal Dominant, 6 71
Deafness Autosomal Dominant 14 71
Deafness Autosomal Dominant 38 71
Deafness, Autosomal Dominant 6 69
Dfna14 71
Dfna38 71
Dfna6 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
deafness, autosomal dominant 6/14/38:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 600965
MedGen 40 C1833021
MeSH 42 D006319
SNOMED-CT via HPO 65 263681008

Summaries for Deafness, Autosomal Dominant 6/14/38

OMIM : 54
Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high frequency hearing is generally preserved, LFSNHL patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high frequency loss later in life. LFSNHL worsens over time without progressing to profound deafness; in contrast, low frequency hearing loss linked to DFNA1 (124900), caused by mutations in the DIAPH1 gene (602121), is associated with progression to profound deafness by the fourth decade of life (summary by Bespalova et al., 2001). (600965)

MalaCards based summary : Deafness, Autosomal Dominant 6/14/38, also known as non-syndromic sensorineural deafness autosomal dominant type 6, is related to autosomal dominant nonsyndromic deafness 6 and dfna 6/14/38 nonsyndromic hearing loss and deafness, and has symptoms including progressive sensorineural hearing impairment and low-frequency sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Dominant 6/14/38 is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 71 Deafness, autosomal dominant, 6: 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. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness.

Related Diseases for Deafness, Autosomal Dominant 6/14/38

Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 6/14/38 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 6 10.8
2 dfna 6/14/38 nonsyndromic hearing loss and deafness 10.8
3 dfna6/14/38 nonsyndromic low frequency sensorineural hearing loss 10.8

Symptoms & Phenotypes for Deafness, Autosomal Dominant 6/14/38

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
progressive, low frequency sensorineural hearing loss


Clinical features from OMIM:

600965

Human phenotypes related to Deafness, Autosomal Dominant 6/14/38:

32
id Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 32 HP:0000408
2 low-frequency sensorineural hearing impairment 32 HP:0008573

Drugs & Therapeutics for Deafness, Autosomal Dominant 6/14/38

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 6/14/38

Genetic Tests for Deafness, Autosomal Dominant 6/14/38

Anatomical Context for Deafness, Autosomal Dominant 6/14/38

MalaCards organs/tissues related to Deafness, Autosomal Dominant 6/14/38:

39
Brain

Publications for Deafness, Autosomal Dominant 6/14/38

Variations for Deafness, Autosomal Dominant 6/14/38

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 6/14/38:

71 (show all 12)
id Symbol AA change Variation ID SNP ID
1 WFS1 p.Lys634Thr VAR_032963 rs104893882
2 WFS1 p.Thr699Met VAR_032964 rs28937894
3 WFS1 p.Ala716Thr VAR_032965 rs28937893
4 WFS1 p.Val779Met VAR_032966 rs141328044
5 WFS1 p.Leu829Pro VAR_032967 rs104893883
6 WFS1 p.Gly831Asp VAR_032968 rs28937895
7 WFS1 p.Arg859Gln VAR_068347 rs121912618
8 WFS1 p.Asp171Asn VAR_074210 rs758281375
9 WFS1 p.Tyr669His VAR_074211
10 WFS1 p.Arg685Pro VAR_074212 rs142668478
11 WFS1 p.His696Tyr VAR_074213
12 WFS1 p.Arg703His VAR_074214

ClinVar genetic disease variations for Deafness, Autosomal Dominant 6/14/38:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh37 Chromosome 4, 6303668: 6303668
2 WFS1 NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro) single nucleotide variant Pathogenic rs104893883 GRCh37 Chromosome 4, 6304008: 6304008
3 WFS1 NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp) single nucleotide variant Pathogenic rs28937895 GRCh37 Chromosome 4, 6304014: 6304014
4 WFS1 NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr) single nucleotide variant Pathogenic rs104893882 GRCh37 Chromosome 4, 6303423: 6303423
5 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic rs74315205 GRCh37 Chromosome 4, 6304112: 6304112
6 WFS1 NM_006005.3(WFS1): c.2054G> C (p.Arg685Pro) single nucleotide variant Pathogenic rs142668478 GRCh37 Chromosome 4, 6303576: 6303576
7 WFS1 NM_006005.3(WFS1): c.2141A> C (p.Asn714Thr) single nucleotide variant Pathogenic rs397517196 GRCh37 Chromosome 4, 6303663: 6303663
8 WFS1 NM_006005.3(WFS1): c.2508G> C (p.Lys836Asn) single nucleotide variant Likely pathogenic rs876657675 GRCh38 Chromosome 4, 6302303: 6302303
9 WFS1 NM_006005.3(WFS1): c.937C> T (p.His313Tyr) single nucleotide variant Likely pathogenic rs886044563 GRCh37 Chromosome 4, 6302459: 6302459

Expression for Deafness, Autosomal Dominant 6/14/38

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 6/14/38.

Pathways for Deafness, Autosomal Dominant 6/14/38

GO Terms for Deafness, Autosomal Dominant 6/14/38

Sources for Deafness, Autosomal Dominant 6/14/38

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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