MCID: DFN141
MIFTS: 27

Deafness, Autosomal Recessive 12 malady

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

Summaries for Deafness, Autosomal Recessive 12

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OMIM:45 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, is also known as deafness, autosomal recessive 12, modifier of, and has symptoms including autosomal recessive inheritance, prelingual sensorineural hearing impairment and abnormality of the eye. An important gene associated with Deafness, Autosomal Recessive 12 is CDH23 (cadherin-related 23). The compound calcium have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are reproductive system and hearing/vestibular/ear.

Aliases & Classifications for Deafness, Autosomal Recessive 12

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Deafness, Autosomal Recessive 12, Aliases & Descriptions:

Name: Deafness, Autosomal Recessive 12 45 10 22
 
Deafness, Autosomal Recessive 12, Modifier of 45


Classifications:



External Ids:

OMIM45 601386

Related Diseases for Deafness, Autosomal Recessive 12

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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 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 autosomal recessive inheritance HP:0000007
2 prelingual sensorineural hearing impairment HP:0000399
3 abnormality of the eye HP:0000478

Drugs & Therapeutics for Deafness, Autosomal Recessive 12

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Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Recessive 12

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 1222

Anatomical Context for Deafness, Autosomal Recessive 12

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

31
Eye

Animal Models for Deafness, Autosomal Recessive 12 or affiliated genes

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MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 12:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.1CDH23, ATP2B2
2MP:00053778.8CDH23, ATP2B2

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:

62 (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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CDH23NM_022124.5(CDH23): c.6133G> A (p.Asp2045Asn)single nucleotide variantPathogenicrs121908348GRCh37Chr 10, 73550972: 73550972
2CDH23NM_022124.5(CDH23): c.6604G> A (p.Asp2202Asn)single nucleotide variantPathogenicrs121908349GRCh37Chr 10, 73553289: 73553289
3CDH23NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn)single nucleotide variantPathogenicrs111033271GRCh37Chr 10, 73553127: 73553127
4NM_022124.5(CDH23): c.4021G> A (p.Asp1341Asn)single nucleotide variantPathogenicrs121908351GRCh37Chr 10, 73492049: 73492049
5CDH23NM_022124.5(CDH23): c.5663T> C (p.Phe1888Ser)single nucleotide variantPathogenicrs121908352GRCh37Chr 10, 73544808: 73544808
6CDH23NM_022124.5(CDH23): c.719C> T (p.Pro240Leu)single nucleotide variantPathogenicrs121908354GRCh37Chr 10, 73330641: 73330641
7CDH23NM_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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Compounds for genes affiliated with Deafness, Autosomal Recessive 12

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1calcium43 49 24 1212.1CDH23, ATP2B2

GO Terms for genes affiliated with Deafness, Autosomal Recessive 12

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

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:00076059.1CDH23, ATP2B2
2cytosolic calcium ion homeostasisGO:00514809.0CDH23, ATP2B2
3calcium ion transportGO:00068168.8CDH23, ATP2B2

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.1CDH23, ATP2B2

Products for genes affiliated with Deafness, Autosomal Recessive 12

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

Sources for Deafness, Autosomal Recessive 12

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet