MCID: DFN143
MIFTS: 36

Deafness, Autosomal Recessive 16

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

Aliases & Classifications for Deafness, Autosomal Recessive 16

MalaCards integrated aliases for Deafness, Autosomal Recessive 16:

Name: Deafness, Autosomal Recessive 16 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 16 12 14
Dfnb16 12 71
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16 71
Deafness, Autosomal Recessive, 16 71
Autosomal Recessive Deafness 16 12

Characteristics:

OMIM:

54
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 54 603720
Disease Ontology 12 DOID:0110471
ICD10 33 H90.3
MedGen 40 C1863561
MeSH 42 D006319

Summaries for Deafness, Autosomal Recessive 16

UniProtKB/Swiss-Prot : 71 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 autosomal recessive nonsyndromic deafness 16, is related to dfnb16 nonsyndromic hearing loss and deafness and cat eye syndrome, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 16 is STRC (Stereocilin). Affiliated tissues include brain, and related phenotypes are behavior/neurological and hearing/vestibular/ear

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

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 dfnb16 nonsyndromic hearing loss and deafness 11.8
2 cat eye syndrome 10.6 TMPRSS3 TMPRSS4
3 tooth agenesis, selective, 3 10.6 COCH STRC
4 atrial fibrillation, familial, 14 10.5 TMPRSS3 TMPRSS4
5 autosomal dominant nonsyndromic deafness 20 10.5 STRC TMPRSS3 TMPRSS4
6 pigmented nodular adrenocortical disease, primary, 2 10.5 GJB2 OTOF
7 birk-landau-perez syndrome 10.5 TMPRSS3 TMPRSS4
8 developmental dysplasia of the hip 1 10.4 GJB2 OTOF
9 deafness, autosomal recessive 9 10.4 GJB2 OTOF
10 deafness, autosomal recessive 23 10.3 COCH MYO7A
11 myocardial infarction 2 10.3 GJB2 GJB6
12 deafness, autosomal recessive 37 10.3 COCH MYO7A
13 spastic paraplegia 24, autosomal recessive 10.2 LIG3 SLC25A15
14 orofacial cleft 10.2 GJB2 OTOF TMPRSS3
15 myopia 22, autosomal dominant 10.2 GJB2 GJB6
16 deafness, autosomal dominant 3a 10.2 GJB2 GJB6
17 kikuchi disease 10.2 GJB2 GJB6
18 pseudocholinesterase deficiency 10.2 GJB2 GJB6
19 congenital disorder of glycosylation with developmental anomaly 10.2 GJB2 GJB6
20 troyer syndrome 10.1 GJB2 GJB6
21 keratoderma, palmoplantar, with deafness 10.1 GJB2 GJB6
22 deafness, autosomal dominant 11 10.1 GJB2 MYO7A OTOF
23 psoriatic arthritis 10.1 COL11A2 GJB2
24 robinow syndrome, autosomal dominant 1 10.1 GJB2 MYO7A
25 cataract 26, multiple types 10.0 GJB2 SLC26A4
26 fibrosis of extraocular muscles, congenital, 2 10.0 GJB2 MYO7A
27 ausems wittebol-post hennekam syndrome 10.0 GJB2 GJB6 OTOF
28 leber congenital amaurosis 14 9.9 GJB2 OTOF SLC26A4
29 sensorineural hearing loss 9.9
30 erythrokeratodermia variabilis et progressiva 1 9.8 GJB2 GJB6
31 hyperphenylalaninemia, mild, non-bh4-deficient 9.8 GJB2 MYO7A SLC26A4
32 severe combined immunodeficiency, athabascan type 9.7 GJB2 MYO7A SLC26A4
33 fascioliasis 9.6 GJB2 GJB6 SLC26A4
34 diabetes persistent mullerian ducts 9.6 GJB2 GJB6 MYO7A OTOF
35 dementia, familial british 9.6 GJB2 GJB6
36 autosomal recessive nonsyndromic deafness 8 9.5 GJB2 MYO7A OTOF SLC26A4
37 bifid nose with or without anorectal and renal anomalies 9.4 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
38 ectodermal dysplasia 6, hair/nail type 9.4 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
39 x-linked nonsyndromic deafness 9.4 COCH COL11A2 MYO7A WFS1
40 lymphoplasmacytic lymphoma 9.4 MYO7A SLC26A4 WFS1
41 viral laryngitis 9.3 COCH GJB2 GJB6 SLC26A4
42 nonsyndromic hydrocephalus, ccdc88c-related 9.2 COCH GJB2 GJB6 OTOF STRC TMPRSS3
43 pituitary adenoma 8.9 GJB2 MYO7A SLC26A4 WFS1
44 deafness, autosomal dominant 2a 8.6 COCH GJB2 GJB6 TMPRSS3 TMPRSS4 WFS1
45 nodular lichen myxedematosus 8.4 COCH COL11A2 GJB2 GJB6 MYO7A WFS1
46 discrete papular lichen myxedematosus 8.2 COL11A2 GJB2 GJB6 MYO7A OTOF SLC26A4
47 narcissistic personality disorder 8.1 COCH GJB2 GJB6 MYO7A OTOF SLC26A4
48 mixed lacrimal gland cancer 8.1 COCH GJB2 GJB6 MYO7A SLC26A4 WFS1
49 dihydrolipoamide dehydrogenase deficiency 7.8 COCH GJB2 GJB6 MYO7A OTOF SLC26A4
50 endometritis 7.8 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:

54

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 16:

44
id 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 OTOF SLC26A4 STRC TMPRSS3 GJB2 GJB6

Drugs & Therapeutics for Deafness, Autosomal Recessive 16

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive 16

Genetic Tests for Deafness, Autosomal Recessive 16

Genetic tests related to Deafness, Autosomal Recessive 16:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 16 29

Anatomical Context for Deafness, Autosomal Recessive 16

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

39
Brain

Publications for Deafness, Autosomal Recessive 16

Variations for Deafness, Autosomal Recessive 16

ClinVar genetic disease variations for Deafness, Autosomal Recessive 16:

6
id 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.2171_2174delTTTG (p.Val724Glyfs) deletion Pathogenic rs786200883 GRCh38 Chromosome 15, 43614436: 43614439
3 STRC NC_000015.10: g.(?_43599438)_(43608225_43613711)del deletion Pathogenic GRCh38 Chromosome 15, 43599438: 43613711
4 STRC NM_153700.2(STRC): c.4701+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs199839039 GRCh37 Chromosome 15, 43893593: 43893593
5 STRC NM_153700.2(STRC): c.4351C> T (p.Arg1451Ter) single nucleotide variant Likely pathogenic rs778909195 GRCh38 Chromosome 15, 43604020: 43604020
6 STRC NM_153700.2(STRC): c.4057C> T (p.Gln1353Ter) single nucleotide variant Pathogenic rs774312182 GRCh37 Chromosome 15, 43896918: 43896918

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.32 COCH COL11A2 GJB2 GJB6 MYO7A OTOF
2 auditory receptor cell stereocilium organization GO:0060088 9.16 MYO7A STRC
3 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
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
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