MCID: DFN139
MIFTS: 28

Deafness, Autosomal Recessive 29

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

Aliases & Classifications for Deafness, Autosomal Recessive 29

MalaCards integrated aliases for Deafness, Autosomal Recessive 29:

Name: Deafness, Autosomal Recessive 29 57 29 13 6 73
Dfnb29 57 12 75
Autosomal Recessive Nonsyndromic Deafness 29 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29 75
Deafness, Autosomal Recessive, Type 29 40
Deafness, Autosomal Recessive, 29 75
Autosomal Recessive Deafness 29 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
nonprogressive


HPO:

32
deafness, autosomal recessive 29:
Inheritance autosomal recessive inheritance
Onset and clinical course nonprogressive


Classifications:



External Ids:

OMIM 57 614035
Disease Ontology 12 DOID:0110487
ICD10 33 H90.3
MedGen 42 C3279660
MeSH 44 D006319
UMLS 73 C3279660

Summaries for Deafness, Autosomal Recessive 29

UniProtKB/Swiss-Prot : 75 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 dfnb29, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal dominant 51. An important gene associated with Deafness, Autosomal Recessive 29 is CLDN14 (Claudin 14), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. Affiliated tissues include brain, and related phenotypes are hearing impairment and sensorineural hearing impairment

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CLDN14 gene on chromosome 21q22.

Description from OMIM: 614035

Related Diseases for Deafness, Autosomal Recessive 29

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Recessive 105 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 29 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
2 deafness, autosomal dominant 51 9.0 CLDN14 TJP2

Symptoms & Phenotypes for Deafness, Autosomal Recessive 29

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
sensorineural hearing loss, severe to profound
affects all frequencies
greater loss of high frequencies
downward sloping audiogram


Clinical features from OMIM:

614035

Human phenotypes related to Deafness, Autosomal Recessive 29:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 sensorineural hearing impairment 32 HP:0000407

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 29 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Mitotic spindle defects GR00099-A 8.62 CLDN14 TJP2

Drugs & Therapeutics for Deafness, Autosomal Recessive 29

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 29

Genetic Tests for Deafness, Autosomal Recessive 29

Genetic tests related to Deafness, Autosomal Recessive 29:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 29 29 CLDN14

Anatomical Context for Deafness, Autosomal Recessive 29

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

41
Brain

Publications for Deafness, Autosomal Recessive 29

Variations for Deafness, Autosomal Recessive 29

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

75
# Symbol AA change Variation ID SNP ID
1 CLDN14 p.Val85Asp VAR_010738 rs74315437
2 CLDN14 p.Arg81His VAR_069979 rs368027306
3 CLDN14 p.Ser87Ile VAR_069981
4 CLDN14 p.Ala94Val VAR_069982
5 CLDN14 p.Gly232Arg VAR_069983 rs786204841

ClinVar genetic disease variations for Deafness, Autosomal Recessive 29:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLDN14 NM_012130.3(CLDN14): c.398delT (p.Met133Argfs) deletion Pathogenic rs786200885 GRCh38 Chromosome 21, 36461298: 36461298
2 CLDN14 NM_012130.3(CLDN14): c.398delT (p.Met133Argfs) deletion Pathogenic rs786200885 GRCh37 Chromosome 21, 37833596: 37833596
3 CLDN14 NM_012130.3(CLDN14): c.254T> A (p.Val85Asp) single nucleotide variant Pathogenic rs74315437 GRCh37 Chromosome 21, 37833740: 37833740
4 CLDN14 NM_012130.3(CLDN14): c.254T> A (p.Val85Asp) single nucleotide variant Pathogenic rs74315437 GRCh38 Chromosome 21, 36461442: 36461442
5 CLDN14 NM_001146077.1(CLDN14): c.301G> A (p.Gly101Arg) single nucleotide variant Pathogenic rs74315438 GRCh37 Chromosome 21, 37833693: 37833693
6 CLDN14 NM_001146077.1(CLDN14): c.301G> A (p.Gly101Arg) single nucleotide variant Pathogenic rs74315438 GRCh38 Chromosome 21, 36461395: 36461395
7 CLDN14 NM_001146077.1(CLDN14): c.242G> A (p.Arg81His) single nucleotide variant Pathogenic rs368027306 GRCh38 Chromosome 21, 36461454: 36461454
8 CLDN14 NM_001146077.1(CLDN14): c.242G> A (p.Arg81His) single nucleotide variant Pathogenic rs368027306 GRCh37 Chromosome 21, 37833752: 37833752
9 CLDN14 NM_012130.3(CLDN14): c.167G> A (p.Trp56Ter) single nucleotide variant Pathogenic rs371100799 GRCh38 Chromosome 21, 36461529: 36461529
10 CLDN14 NM_012130.3(CLDN14): c.167G> A (p.Trp56Ter) single nucleotide variant Pathogenic rs371100799 GRCh37 Chromosome 21, 37833827: 37833827
11 CLDN14 NM_012130.3(CLDN14): c.694G> A (p.Gly232Arg) single nucleotide variant Pathogenic rs786204841 GRCh38 Chromosome 21, 36461002: 36461002
12 CLDN14 NM_012130.3(CLDN14): c.694G> A (p.Gly232Arg) single nucleotide variant Pathogenic rs786204841 GRCh37 Chromosome 21, 37833300: 37833300
13 CLDN14 NM_001146077.1(CLDN14): c.401delT (p.Val134Glyfs) deletion Likely pathogenic GRCh37 Chromosome 21, 37833593: 37833593
14 CLDN14 NM_001146077.1(CLDN14): c.401delT (p.Val134Glyfs) deletion Likely pathogenic GRCh38 Chromosome 21, 36461295: 36461295

Expression for Deafness, Autosomal Recessive 29

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

Pathways for Deafness, Autosomal Recessive 29

GO Terms for Deafness, Autosomal Recessive 29

Cellular components related to Deafness, Autosomal Recessive 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bicellular tight junction GO:0005923 8.62 CLDN14 TJP2

Sources for Deafness, Autosomal Recessive 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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