MCID: DFN141
MIFTS: 12

Deafness, Autosomal Recessive 12 malady

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

Summaries for Deafness, Autosomal Recessive 12

About this section


MalaCards based summary: Deafness, Autosomal Recessive 12 is related to deafness, autosomal recessive 12, modifier of. An important gene associated with Deafness, Autosomal Recessive 12 is CDH23 (cadherin-related 23).

Description from OMIM:46 601386

Aliases & Classifications for Deafness, Autosomal Recessive 12

About this section

Deafness, Autosomal Recessive 12, Aliases & Descriptions:

Name: Deafness, Autosomal Recessive 12 46


Classifications:



Related Diseases for Deafness, Autosomal Recessive 12

About this section

Diseases in the Deafness, Autosomal Dominant 3b family:

Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Nonsyndromic Deafness Otof-Related Deafness
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 55
Familial Deafness Deafness, Autosomal Recessive 96
Deafness, Autosomal Recessive 36 Deafness, Autosomal Dominant 2b
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 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 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 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 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 81
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Dominant 4a 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
Susceptibility to Deafness Due to Cisplatin Treatment

Diseases related to Deafness, Autosomal Recessive 12 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1deafness, autosomal recessive 12, modifier of10.4

Symptoms for Deafness, Autosomal Recessive 12

About this section


Clinical features from OMIM:

601386

Drugs & Therapeutics for Deafness, Autosomal Recessive 12

About this section

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

About this section

Anatomical Context for Deafness, Autosomal Recessive 12

About this section

Animal Models for Deafness, Autosomal Recessive 12 or affiliated genes

About this section

Publications for Deafness, Autosomal Recessive 12

About this section

Variations for Deafness, Autosomal Recessive 12

About this section

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

63 (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:

7
id Gene Name 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

About this section
Expression patterns in normal tissues for genes affiliated with Deafness, Autosomal Recessive 12

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

Pathways for genes affiliated with Deafness, Autosomal Recessive 12

About this section

Compounds for genes affiliated with Deafness, Autosomal Recessive 12

About this section

GO Terms for genes affiliated with Deafness, Autosomal Recessive 12

About this section

Products for genes affiliated with Deafness, Autosomal Recessive 12

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Deafness, Autosomal Recessive 12

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet