MCID: DFN189
MIFTS: 34

Deafness, Autosomal Dominant 25

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

Aliases & Classifications for Deafness, Autosomal Dominant 25

MalaCards integrated aliases for Deafness, Autosomal Dominant 25:

Name: Deafness, Autosomal Dominant 25 53 28 13 69
Dfna25 53 12 71
Autosomal Dominant Nonsyndromic Deafness 25 12 14
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25 71
Deafness, Autosomal Dominant, 25 71
Autosomal Dominant Deafness 25 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
variable audiometric pattern
variable age of onset, ranging from 3 months to over 60 years of age
affected male members reported earlier onset and were more severely affected
two families have been reported (last curated may 2016)


HPO:

31
deafness, autosomal dominant 25:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 53 605583
Disease Ontology 12 DOID:0110555
ICD10 32 H90.3
MedGen 39 C1854158
MeSH 41 D006319
SNOMED-CT via HPO 65 263681008 60700002
UMLS 69 C1854158

Summaries for Deafness, Autosomal Dominant 25

UniProtKB/Swiss-Prot : 71 Deafness, autosomal dominant, 25: 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. DFNA25 expression is variable in terms of onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged.

MalaCards based summary : Deafness, Autosomal Dominant 25, also known as dfna25, is related to branchiootic syndrome 1 and nonsyndromic deafness, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 25 is SLC17A8 (Solute Carrier Family 17 Member 8), and among its related pathways/superpathways are Ubiquitin mediated proteolysis and Synaptic vesicle cycle. Affiliated tissues include brain, and related phenotype is reproductive system.

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has material basis in mutation in the SLC17A8 gene on chromosome 12q23.

Description from OMIM: 605583

Related Diseases for Deafness, Autosomal Dominant 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 Dominant 25 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 9.9
2 nonsyndromic deafness 9.9
3 lichen nitidus 9.8 ATP2A2 C3
4 deafness, autosomal dominant 41 9.7 FZD10 STX2 ZNF664

Symptoms & Phenotypes for Deafness, Autosomal Dominant 25

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, progressive, high-frequency
normal vestibular function


Clinical features from OMIM:

605583

Human phenotypes related to Deafness, Autosomal Dominant 25:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 obligate (100%) HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 25:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.17 ATP2A2 ATP2B1 C3 F8 H1F0 STX2

Drugs & Therapeutics for Deafness, Autosomal Dominant 25

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevalence of POU4F3 and SLC17A8 Mutations Terminated NCT01802190

Search NIH Clinical Center for Deafness, Autosomal Dominant 25

Genetic Tests for Deafness, Autosomal Dominant 25

Genetic tests related to Deafness, Autosomal Dominant 25:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 25 28 SLC17A8

Anatomical Context for Deafness, Autosomal Dominant 25

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

38
Brain

Publications for Deafness, Autosomal Dominant 25

Articles related to Deafness, Autosomal Dominant 25:

# Title Authors Year
1
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. ( 18674745 )
2008
2
DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24. ( 11115382 )
2001

Variations for Deafness, Autosomal Dominant 25

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

71
# Symbol AA change Variation ID SNP ID
1 SLC17A8 p.Ala211Val VAR_054130 rs121918339

ClinVar genetic disease variations for Deafness, Autosomal Dominant 25:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC17A8 NM_139319.2(SLC17A8): c.632C> T (p.Ala211Val) single nucleotide variant Pathogenic/Likely pathogenic rs121918339 GRCh37 Chromosome 12, 100790151: 100790151

Expression for Deafness, Autosomal Dominant 25

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

Pathways for Deafness, Autosomal Dominant 25

Pathways related to Deafness, Autosomal Dominant 25 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.27 UBE3B UBE4A UBE4B
2
Show member pathways
10.86 SLC17A7 SLC17A8 STX2
3 10.76 SLC17A7 SLC17A8

GO Terms for Deafness, Autosomal Dominant 25

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

# Name GO ID Score Top Affiliating Genes
1 excitatory synapse GO:0060076 8.62 SLC17A7 SLC17A8

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

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.61 ATP2B1 SLC17A7 SLC17A8
2 calcium ion transport GO:0006816 9.5 ATP2A2 ATP2B1 TRPV4
3 calcium ion transmembrane transport GO:0070588 9.43 ATP2A2 ATP2B1 TRPV4
4 neurotransmitter transport GO:0006836 9.4 SLC17A7 SLC17A8
5 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.37 ATP2A2 ATP2B1
6 ion transport GO:0006811 9.35 ATP2A2 ATP2B1 SLC17A7 SLC17A8 TRPV4
7 L-glutamate transmembrane transport GO:0089711 9.16 SLC17A7 SLC17A8
8 neural retina development GO:0003407 8.8 ATP2B1 SLC17A7 SLC17A8

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

# Name GO ID Score Top Affiliating Genes
1 calcium-transporting ATPase activity GO:0005388 9.16 ATP2A2 ATP2B1
2 ubiquitin-ubiquitin ligase activity GO:0034450 8.96 UBE4A UBE4B
3 L-glutamate transmembrane transporter activity GO:0005313 8.62 SLC17A7 SLC17A8

Sources for Deafness, Autosomal Dominant 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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