MCID: DFN139
MIFTS: 20

Deafness, Autosomal Recessive 29 malady

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

Aliases & Classifications for Deafness, Autosomal Recessive 29

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Aliases & Descriptions for Deafness, Autosomal Recessive 29:

Name: Deafness, Autosomal Recessive 29 50 12
Deafness, Autosomal Recessive, 29 68 25
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29 68
 
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29 68
Dfnb29 68

Characteristics:

HPO:

62
deafness, autosomal recessive 29:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614035
MedGen35 C3279660
MeSH37 D006319

Summaries for Deafness, Autosomal Recessive 29

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UniProtKB/Swiss-Prot:68 Deafness, autosomal recessive, 29: 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 29, also known as deafness, autosomal recessive, 29, is related to dfnb29 nonsyndromic hearing loss and deafness, and has symptoms including hearing impairment An important gene associated with Deafness, Autosomal Recessive 29 is CLDN14 (Claudin 14). Affiliated tissues include brain.

Description from OMIM:50 614035

Related Diseases for Deafness, Autosomal Recessive 29

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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 Recessive 29 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dfnb29 nonsyndromic hearing loss and deafness11.9

Symptoms for Deafness, Autosomal Recessive 29

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Symptoms by clinical synopsis from OMIM:

614035

Clinical features from OMIM:

614035

HPO human phenotypes related to Deafness, Autosomal Recessive 29:

id Description Frequency HPO Source Accession
1 hearing impairment HP:0000365

Drugs & Therapeutics for Deafness, Autosomal Recessive 29

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive 29

Genetic Tests for Deafness, Autosomal Recessive 29

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Genetic tests related to Deafness, Autosomal Recessive 29:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 2925

Anatomical Context for Deafness, Autosomal Recessive 29

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MalaCards organs/tissues related to Deafness, Autosomal Recessive 29:

34
Brain

Animal Models for Deafness, Autosomal Recessive 29 or affiliated genes

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Publications for Deafness, Autosomal Recessive 29

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Variations for Deafness, Autosomal Recessive 29

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 29:

68
id Symbol AA change Variation ID SNP ID
1CLDN14p.Val85AspVAR_010738rs74315437
2CLDN14p.Arg81HisVAR_069979rs368027306
3CLDN14p.Ser87IleVAR_069981
4CLDN14p.Ala94ValVAR_069982
5CLDN14p.Gly232ArgVAR_069983rs786204841

Clinvar genetic disease variations for Deafness, Autosomal Recessive 29:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CLDN14NM_001146077.1(CLDN14): c.242G> A (p.Arg81His)single nucleotide variantPathogenicrs368027306GRCh38Chr 21, 36461454: 36461454
2CLDN14NM_012130.3(CLDN14): c.167G> A (p.Trp56Ter)single nucleotide variantPathogenicrs371100799GRCh38Chr 21, 36461529: 36461529
3CLDN14NM_012130.3(CLDN14): c.694G> A (p.Gly232Arg)single nucleotide variantPathogenicrs786204841GRCh38Chr 21, 36461002: 36461002
4CLDN14NM_012130.3(CLDN14): c.398delT (p.Met133Argfs)deletionPathogenicrs786200885GRCh38Chr 21, 36461298: 36461298
5CLDN14NM_001146077.1(CLDN14): c.254T> A (p.Val85Asp)single nucleotide variantPathogenicrs74315437GRCh37Chr 21, 37833740: 37833740
6CLDN14NM_001146077.1(CLDN14): c.301G> A (p.Gly101Arg)single nucleotide variantPathogenicrs74315438GRCh37Chr 21, 37833693: 37833693

Expression for genes affiliated with Deafness, Autosomal Recessive 29

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Search GEO for disease gene expression data for Deafness, Autosomal Recessive 29.

Pathways for genes affiliated with Deafness, Autosomal Recessive 29

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GO Terms for genes affiliated with Deafness, Autosomal Recessive 29

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Sources for Deafness, Autosomal Recessive 29

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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