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DFNB62
MCID: DFN179
MIFTS: 29

Deafness, Autosomal Recessive 62 (DFNB62)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Deafness, Autosomal Recessive 62

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MalaCards integrated aliases for Deafness, Autosomal Recessive 62:

Name: Deafness, Autosomal Recessive 62 57 13 70
Autosomal Recessive Nonsyndromic Deafness 62 12 15
Dfnb62 57 12
Autosomal Recessive Deafness 62 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous pakistani has been reported (last curated august 2014)


HPO:

31
deafness, autosomal recessive 62:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110514
OMIM® 57 610143
OMIM Phenotypic Series 57 PS220290
ICD10 32 H90.3
MedGen 41 C1857820
SNOMED-CT via HPO 68 258211005
UMLS 70 C1857820
Sources

Summaries for Deafness, Autosomal Recessive 62

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Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.

MalaCards based summary : Deafness, Autosomal Recessive 62, also known as autosomal recessive nonsyndromic deafness 62, is related to deafness, autosomal recessive and usher syndrome, type ih. An important gene associated with Deafness, Autosomal Recessive 62 is DFNB62 (Deafness, Autosomal Recessive 62), and among its related pathways/superpathways are Tyrosine Kinases / Adaptors and Neural Crest Differentiation. Related phenotypes are prelingual sensorineural hearing impairment and behavior/neurological

More information from OMIM: 610143 PS220290
Sources

Related Diseases for Deafness, Autosomal Recessive 62

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Diseases in the Rare Deafness family:

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 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 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
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 62 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 10.9
2 usher syndrome, type ih 10.2 CDH23 ADGRV1
3 autosomal recessive nonsyndromic deafness 3 10.2 MYO6 CDH23
4 acute hemorrhagic leukoencephalitis 10.2 SOBP CDH23
5 usher syndrome, type ij 10.2 CDH23 ADGRV1
6 usher syndrome, type iid 10.2 CDH23 ADGRV1
7 familial adenomatous polyposis 1 10.2 FOXG1 ADGRV1
8 deafness, autosomal recessive 55 10.2 FOXG1 CDH23
9 deafness, autosomal recessive 40 10.2 FOXG1 CDH23
10 deafness, autosomal dominant 11 10.1 CDH23 ADGRV1
11 deafness, autosomal recessive 2 10.1 CDH23 ADGRV1
12 auditory system disease 10.1 MYO6 CDH23 ADGRV1
13 deafness, autosomal recessive 23 10.1 CDH23 ADGRV1
14 autosomal dominant nonsyndromic deafness 10.1 MYO6 CDH23 ADGRV1
15 usher syndrome, type if 10.1 CDH23 ADGRV1
16 hajdu-cheney syndrome 9.9 JAG2 DLL1
17 thanatophoric dysplasia, type ii 9.9 SPRY2 FGFR3
18 deafness, autosomal recessive 71 9.9 MYO6 FGFR3
19 usher syndrome, type iic 9.9 CDH23 ADGRV1
20 rare genetic deafness 9.9 MYO6 CDH23 ADGRV1
21 chiari malformation 9.8 SYP FGFR3
22 strabismus 9.5 VANGL2 SOBP PTK7 FOXG1 FGFR3

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 62:



Diseases related to Deafness, Autosomal Recessive 62
Sources

Symptoms & Phenotypes for Deafness, Autosomal Recessive 62

About this section

Human phenotypes related to Deafness, Autosomal Recessive 62:

31
# Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 31 HP:0000399

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
deafness, prelingual, profound (affects all frequencies)

Clinical features from OMIM®:

610143 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 62:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 ADGRV1 CDH23 DLL1 FGFR3 FOXG1 MYH6
2 growth/size/body region MP:0005378 10.17 CDH23 CTBP2 DLL1 FGFR3 FOXG1 JAG2
3 hearing/vestibular/ear MP:0005377 10.14 ADGRV1 CDH23 DLL1 FGFR3 FOXG1 JAG2
4 mortality/aging MP:0010768 10.1 ADGRV1 CDH23 CTBP2 DLL1 FGFR3 FOXG1
5 craniofacial MP:0005382 10.08 CDH23 FGFR3 FOXG1 JAG2 MYO6 PTK7
6 nervous system MP:0003631 10.07 ADGRV1 CDH23 CTBP2 DLL1 FGFR3 FOXG1
7 digestive/alimentary MP:0005381 10 CDH23 DLL1 FGFR3 FOXG1 JAG2 SPRY2
8 limbs/digits/tail MP:0005371 9.91 ADGRV1 DLL1 FGFR3 JAG2 PTK7 SPRY2
9 respiratory system MP:0005388 9.7 FGFR3 FOXG1 JAG2 MYH6 PTK7 SPRY2
10 skeleton MP:0005390 9.7 ADGRV1 CDH23 CTBP2 DLL1 FGFR3 FOXG1
11 vision/eye MP:0005391 9.23 ADGRV1 CDH23 FGFR3 FOXG1 MYO6 PTK7
Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 62

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Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 62

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Genetic Tests for Deafness, Autosomal Recessive 62

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Anatomical Context for Deafness, Autosomal Recessive 62

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Publications for Deafness, Autosomal Recessive 62

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Articles related to Deafness, Autosomal Recessive 62:

# Title Authors PMID Year
1
The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23. 57 61
16650082 2006
Sources

Variations for Deafness, Autosomal Recessive 62

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Sources

Expression for Deafness, Autosomal Recessive 62

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Search GEO for disease gene expression data for Deafness, Autosomal Recessive 62.
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Pathways for Deafness, Autosomal Recessive 62

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Pathways related to Deafness, Autosomal Recessive 62 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Tyrosine Kinases / Adaptors 4
11.5 SPRY2 PTK7 FGFR3
2
Neural Crest Differentiation 1
11.14 FGFR3 DLL1 CTBP2
3
Canonical and Non-canonical Notch signaling 1
10.69 JAG2 DLL1
4
NOTCH1 regulation of human endothelial cell calcification 1
10.05 JAG2 FGFR3 DLL1
Sources

GO Terms for Deafness, Autosomal Recessive 62

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Biological processes related to Deafness, Autosomal Recessive 62 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.85 VANGL2 SPRY2 JAG2 FOXG1 FGFR3 DLL1
2 inner ear receptor cell stereocilium organization GO:0060122 9.46 CDH23 ADGRV1
3 actin filament-based movement GO:0030048 9.43 MYO6 MYH6
4 cellular response to leukemia inhibitory factor GO:1990830 9.43 SPRY2 NEFH CTBP2
5 establishment of planar polarity GO:0001736 9.4 VANGL2 PTK7
6 cell communication GO:0007154 9.33 JAG2 DLL1 ADGRV1
7 sensory perception of light stimulus GO:0050953 9.32 CDH23 ADGRV1
8 inner ear morphogenesis GO:0042472 9.26 SPRY2 SOBP MYO6 FOXG1
9 sensory perception of sound GO:0007605 9.02 SPRY2 SOBP MYO6 CDH23 ADGRV1

Molecular functions related to Deafness, Autosomal Recessive 62 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.56 SPRY2 NEFH MYH6 CTBP2
2 microfilament motor activity GO:0000146 9.16 MYO6 MYH6
3 Notch binding GO:0005112 8.96 JAG2 DLL1
4 actin-dependent ATPase activity GO:0030898 8.62 MYO6 MYH6
Sources

Sources for Deafness, Autosomal Recessive 62

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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