MCID: DFN148
MIFTS: 33

Deafness, Autosomal Dominant 16

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

Aliases & Classifications for Deafness, Autosomal Dominant 16

MalaCards integrated aliases for Deafness, Autosomal Dominant 16:

Name: Deafness, Autosomal Dominant 16 53 13 69
Autosomal Dominant Nonsyndromic Deafness 16 12 14
Dfna16 53 12
Autosomal Dominant Deafness 16 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
age of onset between 6 to 10 years of age
all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition
treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus
one family has been described (last curated august 2015)


HPO:

31
deafness, autosomal dominant 16:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 603964
Disease Ontology 12 DOID:0110547
ICD10 32 H90.3
MedGen 39 C1858916
UMLS 69 C1858916

Summaries for Deafness, Autosomal Dominant 16

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.

MalaCards based summary : Deafness, Autosomal Dominant 16, also known as autosomal dominant nonsyndromic deafness 16, is related to autosomal dominant nonsyndromic deafness and branchiootic syndrome 1, and has symptoms including tinnitus and adult onset sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Dominant 16 is STRC (Stereocilin), and among its related pathways/superpathways are L1CAM interactions and Taste transduction.

Description from OMIM: 603964

Related Diseases for Deafness, Autosomal Dominant 16

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

# Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 31.1 DFNA16 MYH14
2 branchiootic syndrome 1 9.9
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
4 deafness, autosomal dominant 6 9.8 MYH14 STRC
5 epileptic encephalopathy, early infantile, 6 9.7 SCN2A SCN3A
6 generalized epilepsy with febrile seizures plus 9.6 SCN2A SCN3A
7 nonsyndromic deafness 9.5 MYH14 STRC
8 epilepsy, idiopathic generalized 9.5 SCN2A SCN3A

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 16:



Diseases related to Deafness, Autosomal Dominant 16

Symptoms & Phenotypes for Deafness, Autosomal Dominant 16

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, fluctuating (predominantly affecting high frequencies)
tinnitus (in some patients)
vertigo, unrelated to hearing loss (in some patients)


Clinical features from OMIM:

603964

Human phenotypes related to Deafness, Autosomal Dominant 16:

31
# Description HPO Frequency HPO Source Accession
1 tinnitus 31 occasional (7.5%) HP:0000360
2 adult onset sensorineural hearing impairment 31 HP:0008615

Drugs & Therapeutics for Deafness, Autosomal Dominant 16

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 16

Genetic Tests for Deafness, Autosomal Dominant 16

Anatomical Context for Deafness, Autosomal Dominant 16

Publications for Deafness, Autosomal Dominant 16

Articles related to Deafness, Autosomal Dominant 16:

# Title Authors Year
1
Genomic structures of SCN2A and SCN3A -- candidate genes for deafness at the DFNA16 locus. ( 11245985 )
2001
2
A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3. ( 10364526 )
1999

Variations for Deafness, Autosomal Dominant 16

ClinVar genetic disease variations for Deafness, Autosomal Dominant 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STRC NM_153700.2(STRC): c.4171C> G (p.Arg1391Gly) single nucleotide variant Pathogenic/Likely pathogenic rs376104748 GRCh37 Chromosome 15, 43896606: 43896606
2 STRC 15q15.3 deletion deletion Pathogenic

Expression for Deafness, Autosomal Dominant 16

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 16.

Pathways for Deafness, Autosomal Dominant 16

Pathways related to Deafness, Autosomal Dominant 16 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 SCN2A SCN3A
2
Show member pathways
11.25 SCN2A SCN3A
3
Show member pathways
10.83 SCN2A SCN3A
4 10.1 SCN2A SCN3A

GO Terms for Deafness, Autosomal Dominant 16

Cellular components related to Deafness, Autosomal Dominant 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel complex GO:0001518 8.62 SCN2A SCN3A

Biological processes related to Deafness, Autosomal Dominant 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.4 SCN2A SCN3A
2 sensory perception of sound GO:0007605 9.37 MYH14 STRC
3 sodium ion transport GO:0006814 9.32 SCN2A SCN3A
4 sodium ion transmembrane transport GO:0035725 9.26 SCN2A SCN3A
5 regulation of postsynaptic membrane potential GO:0060078 9.16 SCN2A SCN3A
6 membrane depolarization during action potential GO:0086010 8.96 SCN2A SCN3A
7 neuronal action potential GO:0019228 8.8 MYH14 SCN2A SCN3A

Molecular functions related to Deafness, Autosomal Dominant 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.26 SCN2A SCN3A
2 ion channel activity GO:0005216 9.16 SCN2A SCN3A
3 sodium channel activity GO:0005272 8.96 SCN2A SCN3A
4 voltage-gated sodium channel activity GO:0005248 8.62 SCN2A SCN3A

Sources for Deafness, Autosomal Dominant 16

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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