MCID: DFN356
MIFTS: 18

Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement

Categories: Genetic diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Deafness, Autosomal Recessive 36, with or Without Vestibular...

MalaCards integrated aliases for Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement:

Name: Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement 57 29 6 73
Deafness, Autosomal Recessive 36 57 13 73
Dfnb36 57 75
Deafness, Autosomal Recessive, Type 36, with or Without Vestibular Involvement 40
Deafness, Autosomal Recessive, 36, with or Without Vestibular Involvement 75
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 36 75
Deafness, Autosomal Recessive 36, Without Vestibular Involvement 6
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 36 75
Deafness, Autosomal Dominant, Without Vestibular Involvement 75
Deafness, Without Vestibular Involvement, Autosomal Dominant 6
Dfnawvi 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 36, with or without vestibular involvement:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609006
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 60700002 22443004

Summaries for Deafness, Autosomal Recessive 36, with or Without Vestibular...

UniProtKB/Swiss-Prot : 75 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, with or Without Vestibular Involvement, also known as deafness, autosomal recessive 36, is related to autosomal recessive nonsyndromic deafness 36. An important gene associated with Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement is ESPN (Espin). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and vestibular areflexia

Description from OMIM: 609006

Related Diseases for Deafness, Autosomal Recessive 36, with or Without Vestibular...

Diseases related to Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 36 11.5

Symptoms & Phenotypes for Deafness, Autosomal Recessive 36, with or Without Vestibular...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, prelingual profound
vestibular areflexia (in one family)


Clinical features from OMIM:

609006

Human phenotypes related to Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement:

32
# 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, with or Without Vestibular...

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement

Genetic Tests for Deafness, Autosomal Recessive 36, with or Without Vestibular...

Genetic tests related to Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement:

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

Anatomical Context for Deafness, Autosomal Recessive 36, with or Without Vestibular...

MalaCards organs/tissues related to Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement:

41
Brain

Publications for Deafness, Autosomal Recessive 36, with or Without Vestibular...

Variations for Deafness, Autosomal Recessive 36, with or Without Vestibular...

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement:

75
# 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, with or Without Vestibular Involvement:

6
(show all 12)
# 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.2155A> C (p.Ser719Arg) single nucleotide variant Pathogenic rs121908134 GRCh38 Chromosome 1, 6451926: 6451926
5 ESPN NM_031475.2(ESPN): c.2230G> A (p.Asp744Asn) single nucleotide variant Pathogenic rs121908135 GRCh37 Chromosome 1, 6512061: 6512061
6 ESPN NM_031475.2(ESPN): c.2230G> A (p.Asp744Asn) single nucleotide variant Pathogenic rs121908135 GRCh38 Chromosome 1, 6452001: 6452001
7 ESPN NM_031475.2(ESPN): c.2321G> A (p.Arg774Gln) single nucleotide variant Pathogenic rs121908136 GRCh37 Chromosome 1, 6512152: 6512152
8 ESPN NM_031475.2(ESPN): c.2321G> A (p.Arg774Gln) single nucleotide variant Pathogenic rs121908136 GRCh38 Chromosome 1, 6452092: 6452092
9 ESPN ESPN, 3-BP DEL, 2541AAG deletion Pathogenic
10 ESPN ESPN, 1-BP INS, 1757G insertion Pathogenic
11 ESPN NM_031475.2(ESPN): c.1048C> T (p.Pro350Ser) single nucleotide variant Likely benign rs115143295 GRCh37 Chromosome 1, 6504598: 6504598
12 ESPN NM_031475.2(ESPN): c.1048C> T (p.Pro350Ser) single nucleotide variant Likely benign rs115143295 GRCh38 Chromosome 1, 6444538: 6444538

Expression for Deafness, Autosomal Recessive 36, with or Without Vestibular...

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement.

Pathways for Deafness, Autosomal Recessive 36, with or Without Vestibular...

GO Terms for Deafness, Autosomal Recessive 36, with or Without Vestibular...

Sources for Deafness, Autosomal Recessive 36, with or Without Vestibular...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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