DFNB29
MCID: DFN139
MIFTS: 29

Deafness, Autosomal Recessive 29 (DFNB29) malady

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

Aliases & Classifications for Deafness, Autosomal Recessive 29

Aliases & Descriptions for Deafness, Autosomal Recessive 29:

Name: Deafness, Autosomal Recessive 29 54 13 69
Autosomal Recessive Nonsyndromic Deafness 29 12 14
Deafness, Autosomal Recessive, 29 66 29
Dfnb29 12 66
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29 66
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29 66
Autosomal Recessive Deafness 29 12

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 614035
Disease Ontology 12 DOID:0110487
ICD10 33 H90.3
MedGen 40 C3279660
MeSH 42 D006319

Summaries for Deafness, Autosomal Recessive 29

UniProtKB/Swiss-Prot : 66 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 autosomal recessive nonsyndromic deafness 29, is related to dfnb29 nonsyndromic hearing loss and deafness and phosphoserine aminotransferase deficiency, and has symptoms including hearing impairment An important gene associated with Deafness, Autosomal Recessive 29 is CLDN14 (Claudin 14), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include brain, and related phenotype is Mitotic spindle defects.

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

id Related Disease Score Top Affiliating Genes
1 dfnb29 nonsyndromic hearing loss and deafness 11.8
2 phosphoserine aminotransferase deficiency 9.8 CLDN14 TJP2
3 knobloch syndrome, type 1 9.5 CLDN14 KCNE1 TJP2

Symptoms & Phenotypes for Deafness, Autosomal Recessive 29

Symptoms by clinical synopsis from OMIM:

614035

Clinical features from OMIM:

614035

Human phenotypes related to Deafness, Autosomal Recessive 29:

32
id Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365

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

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

Drugs & Therapeutics for Deafness, Autosomal Recessive 29

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive 29

Genetic Tests for Deafness, Autosomal Recessive 29

Genetic tests related to Deafness, Autosomal Recessive 29:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 29 29

Anatomical Context for Deafness, Autosomal Recessive 29

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

39
Brain

Publications for Deafness, Autosomal Recessive 29

Variations for Deafness, Autosomal Recessive 29

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

66
id 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
id 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.254T> A (p.Val85Asp) single nucleotide variant Pathogenic rs74315437 GRCh37 Chromosome 21, 37833740: 37833740
3 CLDN14 NM_001146077.1(CLDN14): c.301G> A (p.Gly101Arg) single nucleotide variant Pathogenic rs74315438 GRCh37 Chromosome 21, 37833693: 37833693
4 CLDN14 NM_001146077.1(CLDN14): c.242G> A (p.Arg81His) single nucleotide variant Pathogenic rs368027306 GRCh38 Chromosome 21, 36461454: 36461454
5 CLDN14 NM_012130.3(CLDN14): c.167G> A (p.Trp56Ter) single nucleotide variant Pathogenic rs371100799 GRCh38 Chromosome 21, 36461529: 36461529
6 CLDN14 NM_012130.3(CLDN14): c.694G> A (p.Gly232Arg) single nucleotide variant Pathogenic rs786204841 GRCh38 Chromosome 21, 36461002: 36461002

Expression for Deafness, Autosomal Recessive 29

Search GEO for disease gene expression data 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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