MCID: ATS380
MIFTS: 25

Autosomal Recessive Nonsyndromic Deafness 36

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

Aliases & Classifications for Autosomal Recessive Nonsyndromic Deafness 36

MalaCards integrated aliases for Autosomal Recessive Nonsyndromic Deafness 36:

Name: Autosomal Recessive Nonsyndromic Deafness 36 12 15
Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement 71
Deafness, Autosomal Recessive 36 71
Autosomal Recessive Deafness 36 12
Dfnb36 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110494
ICD10 32 H90.3
UMLS 71 C1837007 C3496242

Summaries for Autosomal Recessive Nonsyndromic Deafness 36

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has material basis in mutation in the ESPN gene on chromosome 1p36.

MalaCards based summary : Autosomal Recessive Nonsyndromic Deafness 36, also known as deafness, autosomal recessive 36, with or without vestibular involvement, is related to deafness, autosomal recessive 36, with or without vestibular involvement and deafness, autosomal dominant 2b. An important gene associated with Autosomal Recessive Nonsyndromic Deafness 36 is ESPN (Espin). Related phenotypes are Decreased Salmonella enterica Typhimurium effector injection and behavior/neurological

Related Diseases for Autosomal Recessive Nonsyndromic Deafness 36

Diseases in the Rare 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 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
Nonsyndromic Deafness 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 Otof-Related Deafness
Familial Deafness

Diseases related to Autosomal Recessive Nonsyndromic Deafness 36 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 36, with or without vestibular involvement 12.0
2 deafness, autosomal dominant 2b 10.2 TRIOBP ESPN
3 deafness, autosomal recessive 35 10.1 TRIOBP GRXCR1
4 deafness, autosomal recessive 13 10.1 MYO3A GRXCR1
5 deafness, autosomal dominant 54 10.1 GRXCR1 DIAPH1
6 auditory neuropathy, autosomal dominant, 1 10.0 ESPNL DIAPH1
7 non-syndromic genetic deafness 10.0 TRIOBP MYO3A
8 deafness, autosomal recessive 25 10.0 TRIOBP GRXCR1 ESPNL
9 deafness, autosomal recessive 24 10.0 TRIOBP TPRN
10 retinitis pigmentosa-deafness syndrome 10.0 WHRN PCDH15
11 hereditary hearing loss and deafness 10.0 ESPN DIAPH1
12 deafness, autosomal recessive 6 9.9 USH1C TRIOBP
13 branchiootic syndrome 1 9.9 WHRN GRXCR1
14 autosomal recessive nonsyndromic deafness 3 9.8 WHRN TPRN MYO3A
15 deafness, autosomal recessive 37 9.8 TRIOBP TPRN MYO3A
16 deafness, autosomal dominant 17 9.8 PCDH15 MYO3A
17 deafness, autosomal dominant 22 9.8 TRIOBP TPRN MYO3A
18 deafness, autosomal dominant 20 9.8 TRIOBP TPRN ESPNL ESPN
19 deafness, autosomal recessive 61 9.6 TRIOBP TPRN MYO3A GRXCR1
20 usher syndrome, type iia 9.6 WHRN USH1C
21 deafness, autosomal recessive 79 9.6 WHRN TPRN MYO3A GRXCR1
22 deafness, autosomal recessive 28 9.6 TRIOBP TPRN GRXCR1 ESPNL ESPN
23 deafness, autosomal recessive 16 9.5 USH1C PCDH15
24 deafness, autosomal dominant 1 9.5 TPRN MYO3A ESPN DIAPH1
25 usher syndrome, type ig 9.4 USH1C PCDH15
26 deafness, autosomal recessive 2 9.4 WHRN USH1C PCDH15
27 usher syndrome, type ih 9.4 WHRN USH1C PCDH15
28 usher syndrome, type ij 9.4 WHRN USH1C PCDH15
29 usher syndrome, type iid 9.4 WHRN USH1C PCDH15
30 deafness, autosomal recessive 23 9.4 WHRN USH1C PCDH15
31 usher syndrome, type ic 9.4 WHRN USH1C PCDH15
32 usher syndrome, type if 9.4 WHRN USH1C PCDH15
33 usher syndrome, type iic 9.4 WHRN USH1C PCDH15
34 usher syndrome, type iiia 9.3 WHRN USH1C PCDH15
35 deafness, autosomal recessive 30 9.2 WHRN PCDH15 MYO3A ESPNL ESPN
36 usher syndrome 9.2 WHRN USH1C PCDH15 ESPN
37 usher syndrome, type id 9.1 WHRN USH1C TRIOBP PCDH15
38 deafness, autosomal recessive 12 9.1 WHRN USH1C TRIOBP PCDH15
39 autosomal recessive nonsyndromic deafness 9.1 WHRN TRIOBP TPRN PCDH15 MYO3A
40 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.0 USH1C TRIOBP PCDH15 MYO3A
41 fundus dystrophy 8.9 WHRN USH1C PCDH15
42 usher syndrome type 2 8.8 WHRN USH1C PCDH15 MYO3A ESPN
43 deafness, autosomal dominant 11 8.6 WHRN USH1C PCDH15 MYO3A DIAPH1
44 rare genetic deafness 8.4 WHRN USH1C PCDH15 MYO3A GRXCR1 DIAPH1
45 usher syndrome, type i 8.3 WHRN USH1C TRIOBP PCDH15 MYO3A GRXCR1
46 deafness, autosomal recessive 8.3 WHRN USH1C TPRN PCDH15 MYO3A GRXCR1
47 auditory system disease 8.3 WHRN USH1C TRIOBP TPRN PCDH15 MYO3A
48 sensorineural hearing loss 8.2 WHRN USH1C TRIOBP TPRN PCDH15 ESPN
49 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.0 WHRN USH1C TRIOBP TPRN PCDH15 MYO3A
50 autosomal dominant nonsyndromic deafness 7.6 WHRN USH1C TRIOBP TPRN PCDH15 MYO3A

Graphical network of the top 20 diseases related to Autosomal Recessive Nonsyndromic Deafness 36:



Diseases related to Autosomal Recessive Nonsyndromic Deafness 36

Symptoms & Phenotypes for Autosomal Recessive Nonsyndromic Deafness 36

GenomeRNAi Phenotypes related to Autosomal Recessive Nonsyndromic Deafness 36 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella enterica Typhimurium effector injection GR00133-A-4 8.62 DIAPH1 MYO3A

MGI Mouse Phenotypes related to Autosomal Recessive Nonsyndromic Deafness 36:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ESPN ESPNL FSCN1 GRXCR1 MYO3A PCDH15
2 hearing/vestibular/ear MP:0005377 9.61 ESPN ESPNL GRXCR1 MYO3A PCDH15 TPRN
3 nervous system MP:0003631 9.32 DIAPH1 ESPN FSCN1 GRXCR1 MYO3A PCDH15

Drugs & Therapeutics for Autosomal Recessive Nonsyndromic Deafness 36

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Nonsyndromic Deafness 36

Genetic Tests for Autosomal Recessive Nonsyndromic Deafness 36

Anatomical Context for Autosomal Recessive Nonsyndromic Deafness 36

Publications for Autosomal Recessive Nonsyndromic Deafness 36

Articles related to Autosomal Recessive Nonsyndromic Deafness 36:

# Title Authors PMID Year
1
Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan. 61
26305302 2015
2
A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13. 61
21937999 2011
3
Unique transgenic animal model for hereditary hearing loss. 61
19102128 2008
4
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. 61
15286153 2004

Variations for Autosomal Recessive Nonsyndromic Deafness 36

Expression for Autosomal Recessive Nonsyndromic Deafness 36

Search GEO for disease gene expression data for Autosomal Recessive Nonsyndromic Deafness 36.

Pathways for Autosomal Recessive Nonsyndromic Deafness 36

GO Terms for Autosomal Recessive Nonsyndromic Deafness 36

Cellular components related to Autosomal Recessive Nonsyndromic Deafness 36 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.16 WHRN USH1C TRIOBP PCDH15 MYO3A FSCN1
2 cytoskeleton GO:0005856 9.91 USH1C TRIOBP MYO3A FSCN1 ESPN DIAPH1
3 cell projection GO:0042995 9.81 WHRN USH1C TPRN MYO3A GRXCR1 FSCN1
4 actin cytoskeleton GO:0015629 9.65 TRIOBP FSCN1 ESPN
5 microvillus GO:0005902 9.56 USH1C GRXCR1 FSCN1 ESPN
6 photoreceptor outer segment GO:0001750 9.55 USH1C PCDH15
7 brush border GO:0005903 9.54 USH1C ESPN
8 photoreceptor inner segment GO:0001917 9.52 WHRN USH1C
9 filamentous actin GO:0031941 9.5 MYO3A ESPNL ESPN
10 photoreceptor connecting cilium GO:0032391 9.49 WHRN USH1C
11 stereocilium bundle GO:0032421 9.46 WHRN ESPN
12 stereocilia ankle link complex GO:0002142 9.4 WHRN USH1C
13 stereocilia ankle link GO:0002141 9.37 WHRN USH1C
14 stereocilium tip GO:0032426 9.35 WHRN USH1C MYO3A ESPNL ESPN
15 stereocilium GO:0032420 9.23 WHRN USH1C TPRN PCDH15 MYO3A GRXCR1

Biological processes related to Autosomal Recessive Nonsyndromic Deafness 36 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.63 PCDH15 FSCN1 DIAPH1
2 actin filament bundle assembly GO:0051017 9.56 USH1C FSCN1 ESPNL ESPN
3 auditory receptor cell stereocilium organization GO:0060088 9.54 WHRN TRIOBP PCDH15
4 photoreceptor cell maintenance GO:0045494 9.51 USH1C PCDH15
5 sensory perception of light stimulus GO:0050953 9.5 WHRN USH1C PCDH15
6 positive regulation of filopodium assembly GO:0051491 9.49 FSCN1 ESPN
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.48 WHRN PCDH15
8 equilibrioception GO:0050957 9.43 USH1C PCDH15
9 inner ear auditory receptor cell differentiation GO:0042491 9.4 USH1C PCDH15
10 parallel actin filament bundle assembly GO:0030046 9.33 USH1C FSCN1 ESPN
11 sensory perception of sound GO:0007605 9.32 WHRN USH1C TRIOBP TPRN PCDH15 MYO3A
12 inner ear receptor cell stereocilium organization GO:0060122 9.26 WHRN USH1C PCDH15 GRXCR1

Molecular functions related to Autosomal Recessive Nonsyndromic Deafness 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.02 USH1C TRIOBP FSCN1 ESPNL ESPN

Sources for Autosomal Recessive Nonsyndromic Deafness 36

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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