DFNB36
MCID: DFN356
MIFTS: 23

Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement (DFNB36)

Categories: Ear diseases, Genetic diseases, Neuronal 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 56 29 6 71
Deafness, Autosomal Recessive 36 56 29 13 71
Dfnb36 56 73
Deafness, Autosomal Recessive, Type 36, with or Without Vestibular Involvement 39
Deafness, Neurosensory, Without Vestibular Involvement, Autosomal Dominant 56
Deafness, Autosomal Recessive, 36, with or Without Vestibular Involvement 73
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 36 73
Deafness, Autosomal Recessive 36, Without Vestibular Involvement 6
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 36 73
Deafness, Autosomal Dominant, Without Vestibular Involvement 73
Deafness, Without Vestibular Involvement, Autosomal Dominant 6
Dfnawvi 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
deafness, autosomal recessive 36, with or without vestibular involvement:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 609006
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
SNOMED-CT via HPO 68 22443004 258211005 60700002
UMLS 71 C1837007 C3496242

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

UniProtKB/Swiss-Prot : 73 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

More information from OMIM: 609006 PS220290

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 11.8

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

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

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 vestibular areflexia 31 HP:0008568

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, prelingual profound
vestibular areflexia (in one family)

Clinical features from OMIM:

609006

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
2 Deafness, Autosomal Recessive 36 29

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:

40
Brain

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

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

# Title Authors PMID Year
1
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. 56 6 61
15286153 2004
2
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. 56 6
15930085 2006
3
Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. 6
29572253 2018
4
A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. 56
18973245 2008
5
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
6
Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan. 61
26305302 2015
7
A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13. 61
21937999 2011
8
Unique transgenic animal model for hereditary hearing loss. 61
19102128 2008

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

ClinVar genetic disease variations for Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ESPN NM_031475.3(ESPN):c.2470_2473del (p.Ser824fs)deletion Pathogenic 4418 1:6520108-6520111 1:6460048-6460051
2 ESPN NM_031475.3(ESPN):c.1988_1991del (p.Lys663fs)deletion Pathogenic 4419 1:6511735-6511738 1:6451675-6451678
3 ESPN NM_031475.3(ESPN):c.2155A>C (p.Ser719Arg)SNV Pathogenic 4420 rs121908134 1:6511986-6511986 1:6451926-6451926
4 ESPN NM_031475.3(ESPN):c.2321G>A (p.Arg774Gln)SNV Pathogenic 4422 rs121908136 1:6512152-6512152 1:6452092-6452092
5 ESPN NM_031475.3(ESPN):c.2539_2541AAG[1] (p.Lys848del)short repeat Pathogenic 4423 1:6520179-6520181 1:6460119-6460121
6 ESPN NM_031475.3(ESPN):c.1756dup (p.Ala586fs)duplication Pathogenic 4424 1:6508991-6508992 1:6448931-6448932
7 ESPN NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer)deletion Pathogenic 562076 rs754472294 1:6520137-6520137 1:6460077-6460077
8 ESPN NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter)SNV Likely pathogenic 623132 rs1485674839 1:6520087-6520087 1:6460027-6460027
9 ESPN NM_031475.3(ESPN):c.935C>T (p.Ser312Leu)SNV Uncertain significance 449818 rs189442618 1:6501070-6501070 1:6441010-6441010
10 ESPN NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn)SNV Uncertain significance 4421 rs121908135 1:6512061-6512061 1:6452001-6452001
11 ESPN NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)SNV Likely benign 163412 rs115143295 1:6504598-6504598 1:6444538-6444538
12 ESPN NM_031475.3(ESPN):c.1069C>T (p.Pro357Ser)SNV Benign 178607 rs116413227 1:6504619-6504619 1:6444559-6444559
13 ESPN NM_031475.3(ESPN):c.1248G>A (p.Pro416=)SNV Benign 811683 1:6505779-6505779 1:6445719-6445719

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

73
# Symbol AA change Variation ID SNP ID
1 ESPN p.Ser719Arg VAR_043453 rs121908134
2 ESPN p.Asp744Asn VAR_043454 rs121908135

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 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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