MCID: DFN193
MIFTS: 19

Deafness, Autosomal Dominant 6/14/38 malady

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

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

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

Name: Deafness, Autosomal Dominant 6/14/38 50 12
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6 68
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6 68
Deafness, Autosomal Dominant, 6 68
Deafness Autosomal Dominant 14 68
 
Deafness Autosomal Dominant 38 68
Dfna38 68
Dfna14 68
Dfna6 68

Characteristics:

HPO:

62
deafness, autosomal dominant 6/14/38:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 600965
MedGen35 C1833021
MeSH37 D006319

Summaries for Deafness, Autosomal Dominant 6/14/38

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OMIM:50 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 dfna 6/14/38 nonsyndromic hearing loss and deafness and dfna6/14/38 nonsyndromic low frequency sensorineural hearing loss, 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:68 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

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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
Otof-Related Deafness Deafness, Autosomal Dominant, 68
Deafness, Autosomal Recessive, 97

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

idRelated DiseaseScoreTop Affiliating Genes
1dfna 6/14/38 nonsyndromic hearing loss and deafness11.0
2dfna6/14/38 nonsyndromic low frequency sensorineural hearing loss11.0

Symptoms for Deafness, Autosomal Dominant 6/14/38

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Symptoms by clinical synopsis from OMIM:

600965

Clinical features from OMIM:

600965

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

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

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

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Interventional clinical trials:

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

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

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

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

34
Brain

Animal Models for Deafness, Autosomal Dominant 6/14/38 or affiliated genes

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Publications for Deafness, Autosomal Dominant 6/14/38

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Variations for Deafness, Autosomal Dominant 6/14/38

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

68 (show all 12)
id Symbol AA change Variation ID SNP ID
1WFS1p.Lys634ThrVAR_032963rs104893882
2WFS1p.Thr699MetVAR_032964rs28937894
3WFS1p.Ala716ThrVAR_032965rs28937893
4WFS1p.Val779MetVAR_032966rs141328044
5WFS1p.Leu829ProVAR_032967rs104893883
6WFS1p.Gly831AspVAR_032968rs28937895
7WFS1p.Arg859GlnVAR_068347rs121912618
8WFS1p.Asp171AsnVAR_074210rs758281375
9WFS1p.Tyr669HisVAR_074211
10WFS1p.Arg685ProVAR_074212rs142668478
11WFS1p.His696TyrVAR_074213
12WFS1p.Arg703HisVAR_074214

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1WFS1NM_006005.3(WFS1): c.2508G> C (p.Lys836Asn)single nucleotide variantLikely pathogenicrs876657675GRCh38Chr 4, 6302303: 6302303
2WFS1NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr)single nucleotide variantLikely pathogenic, Pathogenicrs28937893GRCh37Chr 4, 6303668: 6303668
3WFS1NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro)single nucleotide variantPathogenicrs104893883GRCh37Chr 4, 6304008: 6304008
4WFS1NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp)single nucleotide variantPathogenicrs28937895GRCh37Chr 4, 6304014: 6304014
5WFS1NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr)single nucleotide variantPathogenicrs104893882GRCh37Chr 4, 6303423: 6303423
6WFS1NM_006005.3(WFS1): c.2576G> A (p.Arg859Gln)single nucleotide variantPathogenicrs121912618GRCh37Chr 4, 6304098: 6304098
7WFS1NM_006005.3(WFS1): c.2054G> C (p.Arg685Pro)single nucleotide variantPathogenicrs142668478GRCh37Chr 4, 6303576: 6303576
8WFS1NM_006005.3(WFS1): c.2141A> C (p.Asn714Thr)single nucleotide variantPathogenicrs397517196GRCh37Chr 4, 6303663: 6303663

Expression for genes affiliated with Deafness, Autosomal Dominant 6/14/38

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

Pathways for genes affiliated with Deafness, Autosomal Dominant 6/14/38

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GO Terms for genes affiliated with Deafness, Autosomal Dominant 6/14/38

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Sources for Deafness, Autosomal Dominant 6/14/38

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet