DFNB16
MCID: DFN143
MIFTS: 37

Deafness, Autosomal Recessive 16 (DFNB16)

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

Aliases & Classifications for Deafness, Autosomal Recessive 16

MalaCards integrated aliases for Deafness, Autosomal Recessive 16:

Name: Deafness, Autosomal Recessive 16 57 29 13 6 73
Dfnb16 57 12 75
Autosomal Recessive Nonsyndromic Deafness 16 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16 75
Deafness, Autosomal Recessive, Type 16 40
Deafness, Autosomal Recessive, 16 75
Autosomal Recessive Deafness 16 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood (range birth to 10 years)


HPO:

32
deafness, autosomal recessive 16:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 603720
Disease Ontology 12 DOID:0110471
ICD10 33 H90.3
MedGen 42 C1863561
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008 258211005 60700002
UMLS 73 C1863561

Summaries for Deafness, Autosomal Recessive 16

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 16: 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.

MalaCards based summary : Deafness, Autosomal Recessive 16, also known as dfnb16, is related to sensorineural hearing loss and deafness, autosomal recessive 98. An important gene associated with Deafness, Autosomal Recessive 16 is STRC (Stereocilin). Affiliated tissues include brain and skin, and related phenotypes are sensorineural hearing impairment and behavior/neurological

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the STRC gene on chromosome 15q15.

Description from OMIM: 603720

Related Diseases for Deafness, Autosomal Recessive 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 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
Nonsyndromic Deafness 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 28.5 COCH COL11A2 GJB2 GJB6 MYO7A OTOF
2 deafness, autosomal recessive 98 10.2 TMPRSS3 TMPRSS4
3 deafness, autosomal dominant 9 10.2 COCH STRC
4 deafness, autosomal recessive 24 10.2 TMPRSS3 TMPRSS4
5 auditory neuropathy spectrum disorder 10.2 MYO7A OTOF
6 deafness, autosomal recessive 25 10.2 TMPRSS3 TMPRSS4
7 deafness, autosomal recessive 8 10.2 STRC TMPRSS3 TMPRSS4
8 deafness, autosomal recessive 59 10.2 GJB2 OTOF
9 auditory neuropathy, autosomal dominant, 1 10.1 GJB2 OTOF
10 deafness, autosomal recessive 9 10.1 GJB2 OTOF
11 deafness, autosomal recessive 3 10.1 GJB2 MYO7A
12 deafness, autosomal dominant 22 10.1 COCH MYO7A
13 deafness, autosomal dominant 24 10.1 GJB2 GJB6
14 kid syndrome 10.1 GJB2 GJB6
15 pseudoainhum 10.1 GJB2 GJB6
16 deafness, autosomal recessive 12 10.1 GJB2 MYO7A
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
18 knuckle pads 10.1 GJB2 GJB6
19 knuckle pads, leukonychia, and sensorineural deafness 10.1 GJB2 GJB6
20 deafness, x-linked 2 10.1 GJB2 GJB6
21 deafness, autosomal recessive 6 10.0 GJB2 MYO7A
22 vohwinkel syndrome 10.0 GJB2 GJB6
23 congenital cytomegalovirus 10.0 GJB2 GJB6
24 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.0 LIG3 SLC25A15
25 deafness, autosomal recessive 67 10.0 COL11A2 GJB2
26 deafness, autosomal recessive 2 10.0 GJB2 MYO7A OTOF
27 peripheral vertigo 10.0 COCH SLC26A4
28 deafness, autosomal dominant 36 10.0 GJB2 SLC26A4
29 erythrokeratodermia variabilis et progressiva 1 10.0 GJB2 GJB6
30 deafness, autosomal recessive 1a 10.0 GJB2 GJB6 OTOF
31 ear malformation 10.0 GJB2 SLC26A4
32 deafness, autosomal recessive 26 9.9 GJB2 OTOF SLC26A4
33 drug-induced hearing loss 9.9 GJB2 SLC26A4
34 deafness, autosomal recessive 30 9.9 GJB2 MYO7A SLC26A4
35 autosomal recessive nonsyndromic deafness 9.8 GJB2 OTOF SLC26A4 TMPRSS3
36 dfnb1 9.8 GJB2 GJB6 MYO7A OTOF
37 clouston syndrome 9.8 GJB2 GJB6
38 autosomal recessive nonsyndromic deafness 3 9.8 GJB2 MYO7A OTOF SLC26A4
39 branchiootic syndrome 1 9.8 GJB2 MYO7A OTOF SLC26A4
40 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 GJB6 SLC26A4 STRC
41 deafness, autosomal recessive 85 9.8 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
42 deafness, autosomal recessive 83 9.8 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
43 skin disease 9.7 GJB2 GJB6 TGM3
44 vestibular disease 9.7 COCH GJB2 GJB6 SLC26A4
45 deafness, autosomal recessive 23 9.7 GJB2 GJB6 MYO7A SLC26A4
46 non-syndromic genetic deafness 9.6 COCH GJB2 OTOF STRC TMPRSS3 WFS1
47 autosomal dominant nonsyndromic deafness 9.5 COCH COL11A2 GJB2 MYO7A OTOF WFS1
48 deafness, autosomal dominant 2a 9.5 COCH GJB2 GJB6 TMPRSS3 TMPRSS4 WFS1
49 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.3 COL11A2 GJB2 GJB6 MYO7A OTOF SLC26A4
50 auditory system disease 9.3 COCH GJB2 GJB6 MYO7A OTOF SLC26A4

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



Diseases related to Deafness, Autosomal Recessive 16

Symptoms & Phenotypes for Deafness, Autosomal Recessive 16

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, mild to moderate
high frequency sloping audiometric profile


Clinical features from OMIM:

603720

Human phenotypes related to Deafness, Autosomal Recessive 16:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 16:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 GJB6 LIG3 MYO7A OTOF SLC26A4 TGM3
2 hearing/vestibular/ear MP:0005377 9.61 COCH COL11A2 GJB2 GJB6 MYO7A OTOF
3 nervous system MP:0003631 9.23 GJB2 GJB6 LIG3 MYO7A OTOF SLC26A4

Drugs & Therapeutics for Deafness, Autosomal Recessive 16

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

Genetic Tests for Deafness, Autosomal Recessive 16

Genetic tests related to Deafness, Autosomal Recessive 16:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 16 29 STRC

Anatomical Context for Deafness, Autosomal Recessive 16

MalaCards organs/tissues related to Deafness, Autosomal Recessive 16:

41
Brain, Skin

Publications for Deafness, Autosomal Recessive 16

Articles related to Deafness, Autosomal Recessive 16:

# Title Authors Year
1
Phenotypic Characterization of DFNB16-associated Hearing Loss. ( 30531641 )
2019
2
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype. ( 30250054 )
2018

Variations for Deafness, Autosomal Recessive 16

ClinVar genetic disease variations for Deafness, Autosomal Recessive 16:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 STRC NM_153700.2(STRC): c.3156dupC (p.Cys1053Leufs) duplication Pathogenic rs786200882 GRCh38 Chromosome 15, 43611298: 43611298
2 STRC NM_153700.2(STRC): c.3156dupC (p.Cys1053Leufs) duplication Pathogenic rs786200882 GRCh37 Chromosome 15, 43903496: 43903496
3 STRC NM_153700.2(STRC): c.2171_2174delTTTG (p.Val724Glyfs) deletion Pathogenic rs786200883 GRCh38 Chromosome 15, 43614436: 43614439
4 STRC NM_153700.2(STRC): c.2171_2174delTTTG (p.Val724Glyfs) deletion Pathogenic rs786200883 GRCh37 Chromosome 15, 43906634: 43906637
5 STRC NC_000015.10: g.(?_43599438)_(43608225_43613711)del deletion Pathogenic GRCh38 Chromosome 15, 43599438: 43613711
6 STRC NM_153700.2(STRC): c.179T> C (p.Phe60Ser) single nucleotide variant Benign rs2729509 GRCh37 Chromosome 15, 43910440: 43910440
7 STRC NM_153700.2(STRC): c.179T> C (p.Phe60Ser) single nucleotide variant Benign rs2729509 GRCh38 Chromosome 15, 43618242: 43618242
8 STRC NM_153700.2(STRC): c.4701+1G> A single nucleotide variant Pathogenic rs199839039 GRCh37 Chromosome 15, 43893593: 43893593
9 STRC NM_153700.2(STRC): c.4701+1G> A single nucleotide variant Pathogenic rs199839039 GRCh38 Chromosome 15, 43601395: 43601395
10 STRC NM_153700.2(STRC): c.4917_4918delACinsCT (p.Leu1640Phe) indel Uncertain significance rs727503441 GRCh37 Chromosome 15, 43892807: 43892808
11 STRC NM_153700.2(STRC): c.4917_4918delACinsCT (p.Leu1640Phe) indel Uncertain significance rs727503441 GRCh38 Chromosome 15, 43600609: 43600610
12 STRC NM_153700.2(STRC): c.4351C> T (p.Arg1451Ter) single nucleotide variant Likely pathogenic rs778909195 GRCh38 Chromosome 15, 43604020: 43604020
13 STRC NM_153700.2(STRC): c.4351C> T (p.Arg1451Ter) single nucleotide variant Likely pathogenic rs778909195 GRCh37 Chromosome 15, 43896218: 43896218
14 STRC NM_153700.2(STRC): c.4918C> T (p.Leu1640Phe) single nucleotide variant Uncertain significance rs2920791 GRCh38 Chromosome 15, 43600609: 43600609
15 STRC NM_153700.2(STRC): c.4918C> T (p.Leu1640Phe) single nucleotide variant Uncertain significance rs2920791 GRCh37 Chromosome 15, 43892807: 43892807
16 STRC NM_153700.2(STRC): c.4027C> T (p.Gln1343Ter) single nucleotide variant Pathogenic rs144948296 GRCh38 Chromosome 15, 43604750: 43604750
17 STRC NM_153700.2(STRC): c.4027C> T (p.Gln1343Ter) single nucleotide variant Pathogenic rs144948296 GRCh37 Chromosome 15, 43896948: 43896948
18 STRC NM_153700.2(STRC): c.4837G> T (p.Glu1613Ter) single nucleotide variant Pathogenic rs769443188 GRCh38 Chromosome 15, 43600879: 43600879
19 STRC NM_153700.2(STRC): c.4837G> T (p.Glu1613Ter) single nucleotide variant Pathogenic rs769443188 GRCh37 Chromosome 15, 43893077: 43893077
20 STRC NM_153700.2(STRC): c.1576C> T (p.Arg526Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 43615990: 43615990
21 STRC NM_153700.2(STRC): c.1576C> T (p.Arg526Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 43908188: 43908188
22 CATSPER2; STRC NC_000015.9: g.43892807_43939642del46836 deletion Pathogenic GRCh37 Chromosome 15, 43892807: 43939642
23 STRC NC_000015.10 deletion Pathogenic GRCh38 Chromosome 15, 43594659: 43700429
24 STRC NC_000015.10 deletion Pathogenic GRCh37 Chromosome 15, 43886857: 43992627

Expression for Deafness, Autosomal Recessive 16

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

Pathways for Deafness, Autosomal Recessive 16

GO Terms for Deafness, Autosomal Recessive 16

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

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 9.16 MYO7A STRC
2 gap junction GO:0005921 8.96 GJB2 GJB6
3 connexin complex GO:0005922 8.62 GJB2 GJB6

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.32 COCH COL11A2 GJB2 GJB6 MYO7A OTOF
2 cell communication GO:0007154 9.26 GJB2 GJB6
3 auditory receptor cell stereocilium organization GO:0060088 9.16 MYO7A STRC
4 inner ear development GO:0048839 9.13 GJB2 GJB6 MYO7A

Sources for Deafness, Autosomal Recessive 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....