MCID: DFN184
MIFTS: 32

Deafness, Autosomal Recessive 85

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

Aliases & Classifications for Deafness, Autosomal Recessive 85

MalaCards integrated aliases for Deafness, Autosomal Recessive 85:

Name: Deafness, Autosomal Recessive 85 53 13 69
Autosomal Recessive Nonsyndromic Deafness 85 12 14
Dfnb85 53 12
Autosomal Recessive Deafness 85 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
based on one consanguineous palestinian family (last curated august 2015)


HPO:

31
deafness, autosomal recessive 85:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613392
Disease Ontology 12 DOID:0110531
ICD10 32 H90.3
MedGen 39 C3160740
SNOMED-CT via HPO 65 258211005
UMLS 69 C3160740

Summaries for Deafness, Autosomal Recessive 85

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.

MalaCards based summary : Deafness, Autosomal Recessive 85, also known as autosomal recessive nonsyndromic deafness 85, is related to deafness, autosomal recessive and deafness, autosomal recessive 8. An important gene associated with Deafness, Autosomal Recessive 85 is DFNB85 (Deafness, Autosomal Recessive 85). Related phenotypes are behavior/neurological and hearing/vestibular/ear

Description from OMIM: 613392

Related Diseases for Deafness, Autosomal Recessive 85

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

Diseases related to Deafness, Autosomal Recessive 85 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 29.3 CDH23 DFNB85 LHFPL5 OTOF PJVK PTPRQ
2 deafness, autosomal recessive 8 10.3 TMPRSS3 TMPRSS4
3 deafness, autosomal recessive 98 10.3 TMPRSS3 TMPRSS4
4 deafness, autosomal recessive 24 10.3 TMPRSS3 TMPRSS4
5 deafness, autosomal recessive 25 10.2 TMPRSS3 TMPRSS4
6 auditory neuropathy spectrum disorder 10.2 OTOF PJVK
7 deafness, autosomal recessive 59 10.2 OTOF PJVK
8 deafness, autosomal dominant 2a 10.2 TMPRSS3 TMPRSS4
9 auditory neuropathy, autosomal dominant, 1 10.2 OTOF PJVK
10 deafness, autosomal recessive 3 10.1 MYO15A MYO7A
11 deafness, autosomal dominant 11 10.1 MYO15A MYO7A
12 deafness, autosomal recessive 67 10.1 LHFPL5 PJVK
13 deafness, autosomal dominant 48 10.1 MYO15A MYO7A
14 usher syndrome, type ig 10.1 CDH23 MYO7A
15 dfnb1 10.1 MYO7A OTOF
16 deafness, autosomal dominant 22 10.0 MYO15A MYO7A
17 usher syndrome, type if 10.0 CDH23 MYO7A
18 deafness, autosomal recessive 37 10.0 MYO15A MYO7A
19 deafness, autosomal dominant 17 10.0 MYO15A MYO7A
20 usher syndrome, type ic 10.0 CDH23 MYO7A
21 usher syndrome, type id 10.0 CDH23 MYO7A
22 hodgkin's lymphoma, nodular sclerosis 10.0 MYO15A SLC26A4
23 deafness, autosomal recessive 2 9.9 MYO15A MYO7A OTOF
24 usher syndrome, type iid 9.8 CDH23 MYO7A
25 usher syndrome, type iiia 9.8 CDH23 MYO7A
26 usher syndrome, type iic 9.7 CDH23 MYO7A
27 autosomal dominant nonsyndromic deafness 9.7 MYO7A OTOF PJVK
28 deafness, autosomal recessive 26 9.6 CDH23 OTOF SLC26A4
29 usher syndrome type 2 9.6 CDH23 MYO7A
30 deafness, autosomal recessive 30 9.5 MYO15A MYO7A SLC26A4
31 non-syndromic genetic deafness 9.5 MYO15A OTOA OTOF PJVK TMPRSS3
32 deafness, autosomal recessive 23 9.5 CDH23 MYO7A SLC26A4
33 deafness, autosomal recessive 12 9.5 CDH23 MYO7A SLC26A4
34 inner ear disease 9.5 CDH23 MYO7A SLC26A4
35 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.2 CDH23 MYO7A OTOF SLC26A4
36 deafness, autosomal recessive 16 9.0 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
37 deafness, autosomal dominant 13 9.0 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
38 sensorineural hearing loss 8.9 CDH23 MYO15A MYO7A OTOF SLC26A4
39 autosomal recessive nonsyndromic deafness 8.8 CDH23 GPSM2 MYO15A OTOF SLC26A4 TMPRSS3
40 auditory system disease 8.7 CDH23 MYO15A MYO7A OTOF SLC26A4 TMPRSS3
41 deafness, autosomal dominant 6 8.7 CDH23 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
42 autosomal recessive nonsyndromic deafness 3 8.5 CDH23 MYO15A MYO7A OTOF PJVK SLC26A4
43 autosomal recessive non-syndromic sensorineural deafness type dfnb 7.3 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA
44 deafness, autosomal recessive 83 7.0 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA
45 nonsyndromic deafness 7.0 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 85:



Diseases related to Deafness, Autosomal Recessive 85

Symptoms & Phenotypes for Deafness, Autosomal Recessive 85

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, prelingual bilateral


Clinical features from OMIM:

613392

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 85:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 LHFPL5 MYO15A MYO7A OTOF PJVK PTPRQ
2 hearing/vestibular/ear MP:0005377 9.7 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA
3 nervous system MP:0003631 9.36 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA

Drugs & Therapeutics for Deafness, Autosomal Recessive 85

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 85

Genetic Tests for Deafness, Autosomal Recessive 85

Anatomical Context for Deafness, Autosomal Recessive 85

Publications for Deafness, Autosomal Recessive 85

Variations for Deafness, Autosomal Recessive 85

Expression for Deafness, Autosomal Recessive 85

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 85.

Pathways for Deafness, Autosomal Recessive 85

GO Terms for Deafness, Autosomal Recessive 85

Cellular components related to Deafness, Autosomal Recessive 85 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.46 LHFPL5 MYO7A OTOA SLC26A4
2 stereocilium GO:0032420 9.13 CDH23 MYO15A MYO7A
3 stereocilium bundle GO:0032421 8.8 LHFPL5 MYO15A PTPRQ

Biological processes related to Deafness, Autosomal Recessive 85 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear receptor cell stereocilium organization GO:0060122 9.4 CDH23 MYO7A
2 auditory receptor cell stereocilium organization GO:0060088 9.37 LHFPL5 MYO7A
3 inner ear morphogenesis GO:0042472 9.33 MYO15A MYO7A PTPRQ
4 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.32 LHFPL5 PTPRQ
5 sensory perception of sound GO:0007605 9.28 CDH23 LHFPL5 MYO15A MYO7A OTOA OTOF
6 sensory perception of light stimulus GO:0050953 9.26 CDH23 MYO7A
7 equilibrioception GO:0050957 8.96 CDH23 MYO7A

Molecular functions related to Deafness, Autosomal Recessive 85 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 scavenger receptor activity GO:0005044 8.62 TMPRSS3 TMPRSS4

Sources for Deafness, Autosomal Recessive 85

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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