MCID: DFN095
MIFTS: 34

Deafness, Autosomal Recessive 25

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

Aliases & Classifications for Deafness, Autosomal Recessive 25

MalaCards integrated aliases for Deafness, Autosomal Recessive 25:

Name: Deafness, Autosomal Recessive 25 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 25 12 14
Dfnb25 12 71
Deafness, Autosomal Recessive, 25 71
Autosomal Recessive Deafness 25 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
deafness, autosomal recessive 25:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613285
Disease Ontology 12 DOID:0110483
ICD10 33 H90.3
MedGen 40 C1414017
MeSH 42 D006319

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 autosomal recessive nonsyndromic deafness 25, is related to dfnb25 nonsyndromic hearing loss and deafness and autosomal dominant nonsyndromic deafness 20, and has symptoms including hearing impairment An important gene associated with Deafness, Autosomal Recessive 25 is GRXCR1 (Glutaredoxin And Cysteine Rich Domain Containing 1). 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 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 25 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
id Related Disease Score Top Affiliating Genes
1 dfnb25 nonsyndromic hearing loss and deafness 11.0
2 autosomal dominant nonsyndromic deafness 20 10.4 TMPRSS3 TMPRSS4
3 cat eye syndrome 10.4 TMPRSS3 TMPRSS4
4 bifid nose with or without anorectal and renal anomalies 10.4 TMPRSS3 TMPRSS4
5 ectodermal dysplasia 6, hair/nail type 10.3 TMPRSS3 TMPRSS4
6 microcephaly and chorioretinopathy, autosomal recessive, 3 10.3 TMPRSS3 TMPRSS4
7 congenital muscular dystrophy due to lmna mutation 10.2 TMPRSS3 TMPRSS4
8 deafness, autosomal dominant 2a 10.2 TMPRSS3 TMPRSS4
9 autosomal recessive nonsyndromic deafness 10.0 GRXCR1 TMPRSS3 TMPRSS4
10 medullomyoblastoma 9.9 HPN TMPRSS2
11 deafness, autosomal recessive 53 9.9 TMPRSS3 TMPRSS4
12 pustulosis of palm and sole 9.8 CHRNA1 CHRNA4
13 atrial fibrillation, familial, 14 8.8 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
14 birk-landau-perez syndrome 5.8 ARHGAP17 CHRNA1 CHRNA4 CHRNA9 CORIN GLRX

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:

54

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:

32
id Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365

Drugs & Therapeutics for Deafness, Autosomal Recessive 25

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 25

Genetic Tests for Deafness, Autosomal Recessive 25

Genetic tests related to Deafness, Autosomal Recessive 25:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 25 29

Anatomical Context for Deafness, Autosomal Recessive 25

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

39
Brain

Publications for Deafness, Autosomal Recessive 25

Variations for Deafness, Autosomal Recessive 25

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 GRXCR1 NM_001080476.2(GRXCR1): c.229C> T (p.Gln77Ter) single nucleotide variant Pathogenic rs267606855 GRCh37 Chromosome 4, 42895512: 42895512
2 GRXCR1 NM_001080476.2(GRXCR1): c.628-9C> A single nucleotide variant Pathogenic rs606231120 GRCh38 Chromosome 4, 43020345: 43020345
3 GRXCR1 NM_001080476.2(GRXCR1): c.627+19A> T single nucleotide variant Pathogenic rs201824235 GRCh38 Chromosome 4, 42963153: 42963153
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:

id Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.91 CHRNA1 CHRNA4 CHRNA9 CORIN HPN TMPRSS2
2 cell junction GO:0030054 9.62 ARHGAP17 CHRNA1 CHRNA4 CHRNA9
3 postsynaptic membrane GO:0045211 9.33 CHRNA1 CHRNA4 CHRNA9
4 neuronal cell body GO:0043025 9.26 CHRNA4 HPN TMPRSS3 TMPRSS5
5 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:

id 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)
id 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
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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