MCID: DFN139
MIFTS: 16

Deafness, Autosomal Recessive 29 malady

Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases categories

Summaries for Deafness, Autosomal Recessive 29

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MalaCards based summary: Deafness, Autosomal Recessive 29 and has symptoms including autosomal recessive inheritanceand hearing impairment. An important gene associated with Deafness, Autosomal Recessive 29 is CLDN14 (claudin 14).

Description from OMIM:47 614035

Aliases & Classifications for Deafness, Autosomal Recessive 29

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Deafness, Autosomal Recessive 29, Aliases & Descriptions:

Name: Deafness, Autosomal Recessive 29 47 11 24


Classifications:



External Ids:

OMIM47 614035

Related Diseases for Deafness, Autosomal Recessive 29

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Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 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 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 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 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 Dominant 65 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 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 Recessive 65 deafness, autosomal recessive 29
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 36 Deafness, Autosomal Dominant 6/14/38
Deafness, Autosomal Dominant 8/12 Deafness , Autosomal Recessive 86
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 8/10
Autosomal Recessive Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Nonsyndromic Deafness Otof-Related Deafness

Symptoms for Deafness, Autosomal Recessive 29

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Clinical features from OMIM:

614035

HPO human phenotypes related to Deafness, Autosomal Recessive 29:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hearing impairment HP:0000365

Drugs & Therapeutics for Deafness, Autosomal Recessive 29

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Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Recessive 29

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 2924

Anatomical Context for Deafness, Autosomal Recessive 29

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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:

64
id Symbol AA change Variation ID SNP ID
1CLDN14p.Val85AspVAR_010738
2CLDN14p.Arg81HisVAR_069979
3CLDN14p.Ser87IleVAR_069981
4CLDN14p.Ala94ValVAR_069982
5CLDN14p.Gly232ArgVAR_069983

Clinvar genetic disease variations for Deafness, Autosomal Recessive 29:

7
id Gene Variation Type Significance SNP ID Assembly Location
1CLDN14CLDN14, 1-BP DEL, 398TdeletionPathogenic
2CLDN14NM_001146077.1(CLDN14): c.254T> A (p.Val85Asp)single nucleotide variantPathogenicrs74315437GRCh37Chr 21, 37833740: 37833740
3CLDN14NM_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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Compounds 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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Products for genes affiliated with Deafness, Autosomal Recessive 29

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Deafness, Autosomal Recessive 29

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet