MCID: DFN109
MIFTS: 33

Deafness, Autosomal Recessive 36

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

Aliases & Classifications for Deafness, Autosomal Recessive 36

MalaCards integrated aliases for Deafness, Autosomal Recessive 36:

Name: Deafness, Autosomal Recessive 36 54 13 69
Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement 29 69
Autosomal Recessive Nonsyndromic Deafness 36 12 14
Dfnb36 12 71
Deafness, Autosomal Recessive, 36, with or Without Vestibular Involvement 71
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 36 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 36 71
Deafness, Autosomal Dominant, Without Vestibular Involvement 71
Autosomal Recessive Deafness 36 12
Dfnawvi 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 36:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 609006
Disease Ontology 12 DOID:0110494
ICD10 33 H90.3
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005 60700002 22443004

Summaries for Deafness, Autosomal Recessive 36

UniProtKB/Swiss-Prot : 71 Deafness, autosomal dominant, without vestibular involvement: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Deafness, autosomal recessive, 36, with or without vestibular involvement: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients.

MalaCards based summary : Deafness, Autosomal Recessive 36, also known as deafness, autosomal recessive 36, with or without vestibular involvement, is related to dfnb36 nonsyndromic hearing loss and deafness and nor polyagglutination syndrome, and has symptoms including sensorineural hearing impairment and vestibular areflexia. An important gene associated with Deafness, Autosomal Recessive 36 is ESPN (Espin), and among its related pathways/superpathways are Hepatic ABC Transporters and Diuretics Pathway, Pharmacodynamics. Affiliated tissues include brain.

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.

Description from OMIM: 609006

Related Diseases for Deafness, Autosomal Recessive 36

Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
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 Dominant 70 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 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 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 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 Recessive 97
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 106
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 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 Dominant 73 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 Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 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 Recessive 107
Deafness, Autosomal Dominant 20/26 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 Dominant 67 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
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

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

id Related Disease Score Top Affiliating Genes
1 dfnb36 nonsyndromic hearing loss and deafness 11.8
2 nor polyagglutination syndrome 10.0 ESPN FSCN1
3 psoriatic arthritis 9.9 DIAPH1 ESPN
4 bartter syndrome, type 4b, digenic 9.7 CLCNKA CLCNKB
5 bartter syndrome, type 4a 9.7 CLCNKA CLCNKB
6 rhinitis 9.6 CLCNKA CLCNKB
7 bestrophinopathy 9.5 CLCNKA CLCNKB
8 autosomal recessive nonsyndromic deafness 9.5 DIAPH1 ESPN
9 hypophosphatemic rickets 9.4 CLCNKA CLCNKB
10 deafness, autosomal recessive 96 9.3 CLCNKA CLCNKB ESPN

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



Diseases related to Deafness, Autosomal Recessive 36

Symptoms & Phenotypes for Deafness, Autosomal Recessive 36

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
vestibular areflexia (in one family)
hearing loss, sensorineural, prelingual profound


Clinical features from OMIM:

609006

Human phenotypes related to Deafness, Autosomal Recessive 36:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 vestibular areflexia 32 HP:0008568

Drugs & Therapeutics for Deafness, Autosomal Recessive 36

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive 36

Genetic Tests for Deafness, Autosomal Recessive 36

Genetic tests related to Deafness, Autosomal Recessive 36:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement 29

Anatomical Context for Deafness, Autosomal Recessive 36

MalaCards organs/tissues related to Deafness, Autosomal Recessive 36:

39
Brain

Publications for Deafness, Autosomal Recessive 36

Variations for Deafness, Autosomal Recessive 36

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 36:

71
id Symbol AA change Variation ID SNP ID
1 ESPN p.Ser719Arg VAR_043453 rs121908134
2 ESPN p.Asp744Asn VAR_043454 rs121908135

ClinVar genetic disease variations for Deafness, Autosomal Recessive 36:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ESPN ESPN, 4-BP DEL, 2469GTCA deletion Pathogenic
2 ESPN ESPN, 4-BP DEL, 1988AGAG deletion Pathogenic
3 ESPN NM_031475.2(ESPN): c.2155A> C (p.Ser719Arg) single nucleotide variant Pathogenic rs121908134 GRCh37 Chromosome 1, 6511986: 6511986
4 ESPN NM_031475.2(ESPN): c.2230G> A (p.Asp744Asn) single nucleotide variant Pathogenic rs121908135 GRCh37 Chromosome 1, 6512061: 6512061
5 ESPN NM_031475.2(ESPN): c.2321G> A (p.Arg774Gln) single nucleotide variant Pathogenic rs121908136 GRCh37 Chromosome 1, 6512152: 6512152
6 ESPN ESPN, 3-BP DEL, 2541AAG deletion Pathogenic
7 ESPN ESPN, 1-BP INS, 1757G insertion Pathogenic

Expression for Deafness, Autosomal Recessive 36

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

Pathways for Deafness, Autosomal Recessive 36

Pathways related to Deafness, Autosomal Recessive 36 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.05 CLCNKA CLCNKB
2 10.09 CLCNKA CLCNKB

GO Terms for Deafness, Autosomal Recessive 36

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

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.43 DIAPH1 ESPN FSCN1
2 microvillus GO:0005902 9.16 ESPN FSCN1
3 chloride channel complex GO:0034707 8.96 CLCNKA CLCNKB
4 filamentous actin GO:0031941 8.62 ESPN FSCN1

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

id Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.48 CLCNKA CLCNKB
2 actin cytoskeleton organization GO:0030036 9.46 DIAPH1 FSCN1
3 sensory perception of sound GO:0007605 9.43 DIAPH1 ESPN
4 actin filament organization GO:0007015 9.4 DIAPH1 FSCN1
5 chloride transmembrane transport GO:1902476 9.37 CLCNKA CLCNKB
6 chloride transport GO:0006821 9.32 CLCNKA CLCNKB
7 excretion GO:0007588 9.26 CLCNKA CLCNKB
8 actin filament bundle assembly GO:0051017 9.16 ESPN FSCN1
9 positive regulation of filopodium assembly GO:0051491 8.96 ESPN FSCN1
10 regulation of anion transmembrane transport GO:1903959 8.62 CLCNKA CLCNKB

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

id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.26 ESPN FSCN1
2 voltage-gated ion channel activity GO:0005244 9.16 CLCNKA CLCNKB
3 chloride channel activity GO:0005254 8.96 CLCNKA CLCNKB
4 voltage-gated chloride channel activity GO:0005247 8.62 CLCNKA CLCNKB

Sources for Deafness, Autosomal Recessive 36

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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