MCID: DFN095
MIFTS: 34

Deafness, Autosomal Recessive 25

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

Aliases & Classifications for Deafness, Autosomal Recessive 25

MalaCards integrated aliases for Deafness, Autosomal Recessive 25:

Name: Deafness, Autosomal Recessive 25 53 28 13 69
Dfnb25 53 12 71
Autosomal Recessive Nonsyndromic Deafness 25 12 14
Deafness, Autosomal Recessive, 25 71
Autosomal Recessive Deafness 25 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
congenital or early onset hearing loss
when present, onset of vestibular dysfunction in childhood


HPO:

31
deafness, autosomal recessive 25:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613285
Disease Ontology 12 DOID:0110483
ICD10 32 H90.3
MedGen 39 C1414017
MeSH 41 D006319
UMLS 69 C1414017

Summaries for Deafness, Autosomal Recessive 25

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 25: A form of non-syndromic sensorineural deafness characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in others. Speech development is impaired in some but not all affected individuals, and vestibular dysfunction is observed in some affected individuals. 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.

MalaCards based summary : Deafness, Autosomal Recessive 25, also known as dfnb25, is related to deafness, autosomal recessive 8 and deafness, autosomal recessive 98, and has symptoms including hearing impairment and progressive sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Recessive 25 is GRXCR1 (Glutaredoxin And Cysteine Rich Domain Containing 1), and among its related pathways/superpathways is Acetylcholine Binding And Downstream Events. Affiliated tissues include brain.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has material basis in mutation in the GRXCR1 gene on chromosome 4p13.

Description from OMIM: 613285

Related Diseases for Deafness, Autosomal Recessive 25

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 25 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 8 10.3 TMPRSS3 TMPRSS4
2 deafness, autosomal recessive 98 10.3 TMPRSS3 TMPRSS4
3 deafness, autosomal recessive 85 10.2 TMPRSS3 TMPRSS4
4 deafness, autosomal recessive 83 10.2 TMPRSS3 TMPRSS4
5 deafness, autosomal recessive 16 10.2 TMPRSS3 TMPRSS4
6 deafness, autosomal dominant 2a 10.1 TMPRSS3 TMPRSS4
7 deafness, autosomal dominant 6 10.1 TMPRSS3 TMPRSS4
8 nonsyndromic deafness 10.0 GRXCR1 TMPRSS3 TMPRSS4
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
10 deafness, autosomal dominant 13 9.9 TMPRSS3 TMPRSS4
11 neuromuscular junction disease 9.8 CHRNA1 CHRNA4
12 deafness, autosomal recessive 24 9.1 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 25:



Diseases related to Deafness, Autosomal Recessive 25

Symptoms & Phenotypes for Deafness, Autosomal Recessive 25

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, progressive (moderate to severe progress in some patients to profound hearing loss)
vestibular involvement (in some patients)


Clinical features from OMIM:

613285

Human phenotypes related to Deafness, Autosomal Recessive 25:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 progressive sensorineural hearing impairment 31 HP:0000408

Drugs & Therapeutics for Deafness, Autosomal Recessive 25

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 25

Genetic Tests for Deafness, Autosomal Recessive 25

Genetic tests related to Deafness, Autosomal Recessive 25:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 25 28 GRXCR1

Anatomical Context for Deafness, Autosomal Recessive 25

MalaCards organs/tissues related to Deafness, Autosomal Recessive 25:

38
Brain

Publications for Deafness, Autosomal Recessive 25

Articles related to Deafness, Autosomal Recessive 25:

# Title Authors Year
1
Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness. ( 25802247 )
2015

Variations for Deafness, Autosomal Recessive 25

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 25:

71
# Symbol AA change Variation ID SNP ID
1 GRXCR1 p.Pro38Leu VAR_063160 rs367784906
2 GRXCR1 p.Gly64Ser VAR_063162 rs370551174
3 GRXCR1 p.Arg138Cys VAR_063164 rs267606856
4 GRXCR1 p.Phe153Val VAR_063165 rs770874273

ClinVar genetic disease variations for Deafness, Autosomal Recessive 25:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GRXCR1 NM_001080476.2(GRXCR1): c.628-9C> A single nucleotide variant Pathogenic rs606231120 GRCh38 Chromosome 4, 43020345: 43020345
2 GRXCR1 NM_001080476.2(GRXCR1): c.627+19A> T single nucleotide variant Pathogenic rs201824235 GRCh38 Chromosome 4, 42963153: 42963153
3 GRXCR1 NM_001080476.2(GRXCR1): c.229C> T (p.Gln77Ter) single nucleotide variant Pathogenic rs267606855 GRCh37 Chromosome 4, 42895512: 42895512
4 GRXCR1 NM_001080476.2(GRXCR1): c.412C> T (p.Arg138Cys) single nucleotide variant Pathogenic rs267606856 GRCh37 Chromosome 4, 42964936: 42964936

Expression for Deafness, Autosomal Recessive 25

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 25.

Pathways for Deafness, Autosomal Recessive 25

GO Terms for Deafness, Autosomal Recessive 25

Cellular components related to Deafness, Autosomal Recessive 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.91 CHRNA1 CHRNA4 CHRNA9 CORIN HPN TMPRSS2
2 postsynaptic membrane GO:0045211 9.33 CHRNA1 CHRNA4 CHRNA9
3 neuronal cell body GO:0043025 9.26 CHRNA4 HPN TMPRSS3 TMPRSS5
4 acetylcholine-gated channel complex GO:0005892 8.8 CHRNA1 CHRNA4 CHRNA9

Biological processes related to Deafness, Autosomal Recessive 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.54 CHRNA9 GRXCR1 TMPRSS3
2 response to nicotine GO:0035094 9.46 CHRNA1 CHRNA4
3 receptor-mediated endocytosis GO:0006898 9.46 TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
4 synaptic transmission, cholinergic GO:0007271 9.43 CHRNA1 CHRNA4
5 excitatory postsynaptic potential GO:0060079 9.43 CHRNA1 CHRNA4 CHRNA9
6 neuromuscular synaptic transmission GO:0007274 9.4 CHRNA1 CHRNA4
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.32 CHRNA9 HPN
8 regulation of postsynaptic membrane potential GO:0060078 9.13 CHRNA1 CHRNA4 CHRNA9
9 proteolysis GO:0006508 9.1 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5

Molecular functions related to Deafness, Autosomal Recessive 25 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.97 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
2 peptidase activity GO:0008233 9.8 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
3 extracellular ligand-gated ion channel activity GO:0005230 9.58 CHRNA1 CHRNA4 CHRNA9
4 ligand-gated ion channel activity GO:0015276 9.54 CHRNA1 CHRNA4 CHRNA9
5 protein disulfide oxidoreductase activity GO:0015035 9.48 GLRX GRXCR1
6 acetylcholine binding GO:0042166 9.46 CHRNA1 CHRNA4
7 scavenger receptor activity GO:0005044 9.46 TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
8 acetylcholine receptor activity GO:0015464 9.43 CHRNA1 CHRNA4
9 acetylcholine-gated cation-selective channel activity GO:0022848 9.43 CHRNA1 CHRNA4 CHRNA9
10 serine-type endopeptidase activity GO:0004252 9.43 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
11 serine-type peptidase activity GO:0008236 9.1 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5

Sources for Deafness, Autosomal Recessive 25

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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