MCID: DFN189
MIFTS: 33

Deafness, Autosomal Dominant 25

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

Aliases & Classifications for Deafness, Autosomal Dominant 25

MalaCards integrated aliases for Deafness, Autosomal Dominant 25:

Name: Deafness, Autosomal Dominant 25 54 29 13 69
Autosomal Dominant Nonsyndromic Deafness 25 12 14
Dfna25 12 71
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:

54
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:

32
deafness, autosomal dominant 25:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 605583
Disease Ontology 12 DOID:0110555
ICD10 33 H90.3
MedGen 40 C1854158
MeSH 42 D006319
SNOMED-CT via HPO 65 263681008 60700002

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 autosomal dominant nonsyndromic deafness 25, is related to dfna25 nonsyndromic hearing loss and deafness and van maldergem syndrome 2, 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 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 Dominant 25 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dfna25 nonsyndromic hearing loss and deafness 11.9
2 van maldergem syndrome 2 10.1 C3 F8
3 nonsyndromic deafness 9.9
4 malignant histiocytosis 9.8 ATP2A2 C3
5 myopathy, lactic acidosis, and sideroblastic anemia 1 9.7 FZD10 STX2 ZNF664
6 mitochondrial phosphate carrier deficiency 5.1 ATP2A2 ATP2B1 C3 F8 FZD10 H1F0

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



Diseases related to Deafness, Autosomal Dominant 25

Symptoms & Phenotypes for Deafness, Autosomal Dominant 25

Symptoms via clinical synopsis from OMIM:

54

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


Clinical features from OMIM:

605583

Human phenotypes related to Deafness, Autosomal Dominant 25:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 obligate (100%) HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 25:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.1 ATP2A2 C3 F8 H1F0 STX2 UBE3B

Drugs & Therapeutics for Deafness, Autosomal Dominant 25

Interventional clinical trials:


id 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:

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

Anatomical Context for Deafness, Autosomal Dominant 25

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

39
Brain

Publications for Deafness, Autosomal Dominant 25

Variations for Deafness, Autosomal Dominant 25

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

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

ClinVar genetic disease variations for Deafness, Autosomal Dominant 25:

6
id 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:

id 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:

id 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:

id 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:

id 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
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
Content
Loading form....