MCID: DFN141
MIFTS: 35

Deafness, Autosomal Recessive 12 malady

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

Aliases & Classifications for Deafness, Autosomal Recessive 12

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Aliases & Descriptions for Deafness, Autosomal Recessive 12:

Name: Deafness, Autosomal Recessive 12 50 12
Deafness, Autosomal Recessive, 12 68 25
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 68
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 68
 
Congenital Neurosensory Deafness Autosomal Recessive 12 68
Deafness, Autosomal Recessive 12, Modifier of 50
Dfnb12 68

Characteristics:

HPO:

62
deafness, autosomal recessive 12:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 601386
MedGen35 C1832394
MeSH37 D006319

Summaries for Deafness, Autosomal Recessive 12

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OMIM:50 Chaib et al. (1996) reviewed the frequency and inheritance of congenital isolated deafness and causes for difficulties... (601386) more...

MalaCards based summary: Deafness, Autosomal Recessive 12, also known as deafness, autosomal recessive, 12, is related to dfnb12 nonsyndromic hearing loss and deafness and usher syndrome, and has symptoms including prelingual sensorineural hearing impairment and abnormality of the eye. An important gene associated with Deafness, Autosomal Recessive 12 is CDH23 (Cadherin Related 23), and among its related pathways is Myometrial Relaxation and Contraction Pathways. Affiliated tissues include brain and eye, and related mouse phenotypes are reproductive system and hearing/vestibular/ear.

UniProtKB/Swiss-Prot:68 Deafness, autosomal recessive, 12: 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.

Related Diseases for Deafness, Autosomal Recessive 12

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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 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1dfnb12 nonsyndromic hearing loss and deafness11.9
2usher syndrome10.2
3usher syndrome, type 1d9.9
4nonsyndromic deafness9.9
5diabetes mellitus, 6q24-related transient neonatal9.8CDH23, GJB2
6dihydrolipoamide dehydrogenase deficiency9.7CDH23, GJB2
7autosomal recessive nonsyndromic deafness9.7CDH23, GJB2
8hyperimmunoglobulin syndrome9.6CDH23, GJB2
9pyelitis9.4CDH23, GJB2
10usher syndrome, type 1f9.1ATP2B2, CDH23, GJB2
11localized lichen myxedematosus with mixed features of different subtypes9.0ATP2B2, CDH23, GJB2

Graphical network of diseases related to Deafness, Autosomal Recessive 12:



Diseases related to deafness, autosomal recessive 12

Symptoms for Deafness, Autosomal Recessive 12

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Symptoms by clinical synopsis from OMIM:

601386

Clinical features from OMIM:

601386

HPO human phenotypes related to Deafness, Autosomal Recessive 12:

id Description Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment HP:0000399
2 abnormality of the eye HP:0000478

Drugs & Therapeutics for Deafness, Autosomal Recessive 12

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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 12

Genetic Tests for Deafness, Autosomal Recessive 12

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Genetic tests related to Deafness, Autosomal Recessive 12:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 1225

Anatomical Context for Deafness, Autosomal Recessive 12

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MalaCards organs/tissues related to Deafness, Autosomal Recessive 12:

34
Brain, Eye

Animal Models for Deafness, Autosomal Recessive 12 or affiliated genes

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MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 12:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5ATP2B2, CDH23, GJB2
2MP:00053778.4ATP2B2, CDH23, GJB2

Publications for Deafness, Autosomal Recessive 12

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Variations for Deafness, Autosomal Recessive 12

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 12:

68 (show all 31)
id Symbol AA change Variation ID SNP ID
1CDH23p.Asp990AsnVAR_012169
2CDH23p.Asp2045AsnVAR_012182
3CDH23p.Asp2202AsnVAR_012183
4CDH23p.Ile2950AsnVAR_012187
5CDH23p.Arg2956CysVAR_012188
6CDH23p.Pro3059ThrVAR_012189
7CDH23p.Asp124GlyVAR_027317
8CDH23p.Asn452SerVAR_027319
9CDH23p.Leu480GlnVAR_027320
10CDH23p.Arg582GlnVAR_027322
11CDH23p.Arg1060TrpVAR_027323
12CDH23p.Gly1186AspVAR_027324
13CDH23p.Asp1341AsnVAR_027326
14CDH23p.Ala1586ProVAR_027328
15CDH23p.Glu1595LysVAR_027329
16CDH23p.Asp1846AsnVAR_027331
17CDH23p.Phe1888SerVAR_027333
18CDH23p.Asp2148AsnVAR_027336
19CDH23p.Arg2465TrpVAR_027339
20CDH23p.Arg2608HisVAR_027341
21CDH23p.Pro240LeuVAR_046404rs121908354
22CDH23p.Arg301GlnVAR_046405
23CDH23p.Arg1417TrpVAR_046414
24CDH23p.Gln1716ProVAR_046418
25CDH23p.Arg2029TrpVAR_046425
26CDH23p.Asn342SerVAR_071408
27CDH23p.Glu956LysVAR_071413
28CDH23p.Thr1368MetVAR_071418
29CDH23p.Asp1626AlaVAR_071422
30CDH23p.Asn2287LysVAR_071425
31CDH23p.Glu2438LysVAR_071426

Clinvar genetic disease variations for Deafness, Autosomal Recessive 12:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CDH23NM_022124.5(CDH23): c.7903G> T (p.Val2635Phe)single nucleotide variantPathogenicrs763721044GRCh38Chr 10, 71805836: 71805836
2GJB2NM_004004.5(GJB2): c.400T> C (p.Trp134Arg)single nucleotide variantPathogenicrs878853241GRCh37Chr 13, 20763321: 20763321
3CDH23NM_022124.5(CDH23): c.1246_1266del21 (p.Ala416_Glu422del)deletionLikely pathogenicrs397517305GRCh37Chr 10, 73405693: 73405713
4CDH23NM_022124.5(CDH23): c.6133G> A (p.Asp2045Asn)single nucleotide variantPathogenicrs121908348GRCh37Chr 10, 73550972: 73550972
5CDH23NM_022124.5(CDH23): c.6604G> A (p.Asp2202Asn)single nucleotide variantPathogenicrs121908349GRCh37Chr 10, 73553289: 73553289
6CDH23NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn)single nucleotide variantPathogenicrs111033271GRCh37Chr 10, 73553127: 73553127
7NM_022124.5(CDH23): c.4021G> A (p.Asp1341Asn)single nucleotide variantPathogenicrs121908351GRCh37Chr 10, 73492049: 73492049
8CDH23NM_022124.5(CDH23): c.5663T> C (p.Phe1888Ser)single nucleotide variantPathogenicrs121908352GRCh37Chr 10, 73544808: 73544808
9CDH23NM_022124.5(CDH23): c.719C> T (p.Pro240Leu)single nucleotide variantPathogenicrs121908354GRCh37Chr 10, 73330641: 73330641
10CDH23NM_022124.5(CDH23): c.902G> A (p.Arg301Gln)single nucleotide variantPathogenicrs121908355GRCh37Chr 10, 73375330: 73375330

Expression for genes affiliated with Deafness, Autosomal Recessive 12

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Search GEO for disease gene expression data for Deafness, Autosomal Recessive 12.

Pathways for genes affiliated with Deafness, Autosomal Recessive 12

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Pathways related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ATP2B2, GJB2

GO Terms for genes affiliated with Deafness, Autosomal Recessive 12

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Cellular components related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:00300549.1ATP2B2, GJB2

Biological processes related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of cytosolic calcium ion concentrationGO:00514809.4ATP2B2, CDH23
2transportGO:00068109.3ATP2B2, GJB2
3calcium ion transportGO:00068169.2ATP2B2, CDH23
4locomotory behaviorGO:00076269.0ATP2B2, CDH23
5sensory perception of soundGO:00076058.6ATP2B2, CDH23, GJB2

Sources for Deafness, Autosomal Recessive 12

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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