DFNA6
MCID: DFN193
MIFTS: 21

Deafness, Autosomal Dominant 6/14/38 (DFNA6) malady

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

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

Aliases & Descriptions for Deafness, Autosomal Dominant 6/14/38:

Name: Deafness, Autosomal Dominant 6/14/38 54 13
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6 66
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6 66
Deafness, Autosomal Dominant, 6 66
Deafness Autosomal Dominant 14 66
Deafness Autosomal Dominant 38 66
Deafness, Autosomal Dominant 6 69
Dfna14 66
Dfna38 66
Dfna6 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 600965
MedGen 40 C1833021
MeSH 42 D006319

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... (600965) more...

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 : 66 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 32
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 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 Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
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 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 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 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 Recessive 48 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 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Recessive Nonsyndromic Deafness 97 Autosomal Dominant Nonsyndromic Deafness 12
Autosomal Dominant Nonsyndromic Deafness 20 Autosomal Dominant Nonsyndromic Deafness 6
Autosomal Dominant Nonsyndromic Deafness 66 Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Nonsyndromic Deafness 69 Autosomal Dominant Nonsyndromic Deafness 70
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 10.9
2 dfna 6/14/38 nonsyndromic hearing loss and deafness 10.9
3 dfna6/14/38 nonsyndromic low frequency sensorineural hearing loss 10.9

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

Symptoms by clinical synopsis from OMIM:

600965

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:

66 (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

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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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