DFNA16
MCID: DFN148
MIFTS: 28

Deafness, Autosomal Dominant 16 (DFNA16)

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

Aliases & Classifications for Deafness, Autosomal Dominant 16

MalaCards integrated aliases for Deafness, Autosomal Dominant 16:

Name: Deafness, Autosomal Dominant 16 57 13 6 70
Autosomal Dominant Nonsyndromic Deafness 16 12 15
Dfna16 57 12
Autosomal Dominant Deafness 16 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

Disease Ontology 12 DOID:0110547
OMIM® 57 603964
OMIM Phenotypic Series 57 PS124900
ICD10 32 H90.3
MedGen 41 C1858916
UMLS 70 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 deafness, autosomal dominant 6 and deafness, autosomal dominant 20. An important gene associated with Deafness, Autosomal Dominant 16 is STRC (Stereocilin). Related phenotypes are tinnitus and adult onset sensorineural hearing impairment

More information from OMIM: 603964 PS124900

Related Diseases for Deafness, Autosomal Dominant 16

Diseases in the Rare Deafness family:

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 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 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
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 16 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 6 29.8 POU4F3 KCNQ4
2 deafness, autosomal dominant 20 29.7 POU4F3 KCNQ4
3 nonsyndromic hearing loss 28.8 POU4F3 MYO6 KCNQ4 GJB3 COCH
4 deafness, autosomal recessive 27 10.2 XIRP2 NGRN
5 y-linked monogenic disease 10.2 STRC KCNQ4
6 deafness, autosomal dominant 51 10.1 GJB3 CCDC50
7 deafness, autosomal dominant 13 10.1 KCNQ4 CCDC50
8 deafness, autosomal dominant 47 10.1 NGRN EPHB1
9 deafness, autosomal dominant 30 10.1 NGRN EPHB1
10 deafness, autosomal recessive 5 10.1 NGRN EPHB1
11 deafness, autosomal recessive 1b 10.1 STRC GJB3
12 deafness, autosomal dominant 17 10.1 MYO6 KCNQ4
13 branchiootic syndrome 1 10.1
14 deafness, autosomal dominant 28 10.0 KCNQ4 COCH
15 deafness, autosomal recessive 91 10.0 GJB3 COCH
16 deafness, autosomal dominant 3a 10.0 GJB3 COCH
17 deafness, autosomal dominant 41 9.9 POU4F3 KCNQ4
18 deafness, autosomal dominant 50 9.9 POU4F3 CCDC50
19 peripheral vertigo 9.9 KCNQ4 COCH
20 deafness, autosomal recessive 12 9.9 STRC GJB3
21 deafness, autosomal dominant 4a 9.9
22 deafness, autosomal dominant 7 9.9
23 deafness, autosomal dominant 21 9.9
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
25 meniere disease 9.9 KCNQ4 COCH
26 hereditary hearing loss and deafness 9.9 GJB3 COCH CCDC50
27 deafness, autosomal dominant 64 9.9 SLC17A8 KCNQ4
28 non-syndromic genetic deafness 9.9 MYO6 KCNQ4 COCH
29 acute hemorrhagic leukoencephalitis 9.9 SLC17A8 KCNQ4
30 x-linked nonsyndromic deafness 9.9 POU4F3 GJB3
31 deafness, autosomal dominant 44 9.8 POU4F3 KCNQ4 CCDC50
32 deafness, x-linked 2 9.8 STRC POU4F3 GJB3
33 inner ear disease 9.8 KCNQ4 GJB3 COCH
34 auditory neuropathy, autosomal dominant, 1 9.8 SLC17A8 KCNQ4
35 erythrokeratodermia variabilis et progressiva 1 9.7 MYO6 GJB3
36 rare genetic deafness 9.7 STRC MYO6 KCNQ4 COCH
37 vestibular disease 9.7 STRC KCNQ4 GJB3 COCH
38 deafness, autosomal recessive 1a 9.7 STRC KCNQ4 GJB3 COCH
39 deafness, autosomal dominant 15 9.7 POU4F3 MYO6 KCNQ4 CCDC50
40 deafness, autosomal dominant 10 9.7 POU4F3 MYO6 KCNQ4 CCDC50
41 cocaine abuse 9.6 SLC17A8 COCH
42 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 STRC POU4F3 MYO6 GJB3
43 deafness, autosomal dominant 43 9.6 POU4F3 MYO6 COCH CCDC50
44 deafness, autosomal dominant 18 9.5 POU4F3 NGRN MYO6 KCNQ4 CCDC50
45 deafness, autosomal dominant 12 9.5 STRC POU4F3 KCNQ4 GJB3 CCDC50
46 deafness, autosomal dominant 25 9.4 SLC17A8 POU4F3 KCNQ4 CCDC50
47 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.3 STRC POU4F3 KCNQ4 GJB3 COCH
48 deafness, autosomal dominant 2b 9.3 POU4F3 KCNQ4 GJB3 COCH CCDC50
49 usher syndrome, type i 9.3 STRC SLC17A8 KCNQ4 COCH CCDC50
50 auditory system disease 9.2 STRC POU4F3 MYO6 KCNQ4 GJB3 COCH

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

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
tinnitus (in some patients)
hearing loss, sensorineural, fluctuating (predominantly affecting high frequencies)
vertigo, unrelated to hearing loss (in some patients)

Clinical features from OMIM®:

603964 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 16:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.17 COCH GJB3 KCNQ4 MYO6 POU4F3 SLC17A8

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 PMID Year
1
A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3. 61 57
10364526 1999
2
Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21. 61
12408070 2002
3
Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. 61
11245985 2001
4
A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31. 61
11175289 2000

Variations for Deafness, Autosomal Dominant 16

ClinVar genetic disease variations for Deafness, Autosomal Dominant 16:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STRC 15q15.3 deletion Deletion Pathogenic 236065 GRCh37:
GRCh38:
2 STRC NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) SNV Pathogenic 165311 rs376104748 GRCh37: 15:43896606-43896606
GRCh38: 15:43604408-43604408
3 STRC NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) SNV Pathogenic 165311 rs376104748 GRCh37: 15:43896606-43896606
GRCh38: 15:43604408-43604408

Expression for Deafness, Autosomal Dominant 16

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

Pathways for Deafness, Autosomal Dominant 16

GO Terms for Deafness, Autosomal Dominant 16

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

# Name GO ID Score Top Affiliating Genes
1 retinal ganglion cell axon guidance GO:0031290 9.26 POU4F3 EPHB1
2 sensory perception of sound GO:0007605 9.17 STRC SLC17A8 POU4F3 MYO6 KCNQ4 COCH
3 inner ear auditory receptor cell differentiation GO:0042491 9.16 POU4F3 MYO6
4 inner ear morphogenesis GO:0042472 9.13 POU4F3 MYO6 KCNQ4

Sources for Deafness, Autosomal Dominant 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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