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 56 29 13 6 71
Dfnb16 56 12 73
Autosomal Recessive Nonsyndromic Deafness 16 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16 73
Deafness, Autosomal Recessive, Type 16 39
Deafness, Autosomal Recessive, 16 73
Autosomal Recessive Deafness 16 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
deafness, autosomal recessive 16:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110471
OMIM 56 603720
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1863561
SNOMED-CT via HPO 68 258211005 263681008 60700002
UMLS 71 C1863561

Summaries for Deafness, Autosomal Recessive 16

UniProtKB/Swiss-Prot : 73 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 catsper-related male infertility and deafness-infertility syndrome. An important gene associated with Deafness, Autosomal Recessive 16 is STRC (Stereocilin). Affiliated tissues include brain, 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.

More information from OMIM: 603720 PS220290

Related Diseases for Deafness, Autosomal Recessive 16

Diseases in the Rare 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
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
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 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Otof-Related Deafness
Familial Deafness

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 catsper-related male infertility 31.0 STRC CATSPER2
2 deafness-infertility syndrome 30.7 STRC CATSPER2
3 dfnb1 30.0 PCDH15 OTOF GJB2
4 branchiootic syndrome 1 29.4 TMC1 PTPRQ OTOF GJB2 CDH23
5 sensorineural hearing loss 25.7 USH1C TMIE TMC1 STRC PTPRQ PCDH15
6 autosomal recessive non-syndromic sensorineural deafness type dfnb 25.2 USH1C TMIE TMC1 STRC PTPRQ PCDH15
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
8 deafness, autosomal recessive 59 10.3 OTOF GJB2
9 deafness, autosomal recessive 3 10.2 MYO15A GJB2
10 deafness, autosomal recessive 84b 10.2 STRC OTOGL
11 deafness, autosomal recessive 18b 10.2 STRC OTOGL
12 auditory neuropathy, autosomal dominant, 1 10.2 OTOF GJB2
13 deafness, autosomal dominant 67 10.2 OTOF GJB2
14 deafness, autosomal dominant 2a 10.2 LHFPL5 GJB2
15 deafness, autosomal recessive 5 10.2 USH1C STRC
16 deafness, autosomal recessive 91 10.2 PTPRQ GJB2
17 migraine with or without aura 1 10.1
18 deafness, autosomal recessive 53 10.1 OTOGL LHFPL5
19 non-syndromic genetic deafness 10.1 MYO15A GJB2
20 erythrokeratodermia variabilis et progressiva 1 10.1 TMIE OTOA GJB2
21 deafness, autosomal dominant 3b 10.1 PTPRQ OTOA GJB2
22 deafness, autosomal recessive 85 10.1 PTPRQ OTOA LHFPL5
23 deafness, autosomal recessive 27 10.0 TMIE TMC1
24 deafness, autosomal recessive 35 10.0 TMIE OTOA MYO15A
25 deafness, autosomal dominant 27 10.0 TMIE STRC CDH23
26 deafness, autosomal recessive 49 10.0 OTOA MYO15A GJB2
27 deafness, autosomal recessive 25 10.0 PTPRQ MYO15A
28 deafness, autosomal dominant 1 10.0 PTPRQ MYO15A GJB2
29 deafness, autosomal recessive 84a 10.0 PTPRQ CDH23
30 deafness, autosomal recessive 61 10.0 STRC PTPRQ OTOF OTOA
31 deafness, autosomal dominant 22 9.9 PTPRQ MYO15A
32 deafness, autosomal recessive 77 9.9 TMIE GJB2 CDH23
33 deafness, autosomal dominant 25 9.9 USH1C OTOF GJB2
34 deafness, autosomal dominant 4b 9.9 OTOGL GJB2
35 deafness, autosomal dominant 16 9.9 TMIE TMC1 STRC
36 deafness, autosomal recessive 39 9.9 STRC PTPRQ OTOA GJB2
37 deafness, autosomal recessive 66 9.9 STRC PTPRQ OTOA LHFPL5
38 deafness, autosomal recessive 28 9.8 TMIE OTOF OTOA MYO15A
39 deafness, autosomal dominant 59 9.8 USH1C STRC GJB2 CATSPER2
40 deafness, autosomal recessive 29 9.8 MYO15A GJB2
41 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 TMC1 PTPRQ GJB2
42 usher syndrome, type ik 9.7 PCDH15 CDH23
43 retinitis pigmentosa-deafness syndrome 9.7 PCDH15 CDH23
44 autosomal recessive nonsyndromic deafness 36 9.7 USH1C PCDH15
45 deafness, autosomal recessive 67 9.7 TMIE PCDH15 LHFPL5
46 deafness, autosomal dominant 9 9.7 PCDH15 GJB2
47 deafness, autosomal recessive 30 9.6 PCDH15 MYO15A
48 deafness, autosomal dominant 17 9.6 PCDH15 OTOF MYO15A
49 pendred syndrome 9.6 OTOF MYO15A GJB2 CDH23
50 deafness, autosomal recessive 63 9.6 TMIE TMC1 OTOA MYO15A

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

Human phenotypes related to Deafness, Autosomal Recessive 16:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 obligate (100%) HP:0000407

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, mild to moderate
high frequency sloping audiometric profile

Clinical features from OMIM:

603720

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 16:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 CDH23 LHFPL5 MYO15A OTOF OTOGL PCDH15
2 hearing/vestibular/ear MP:0005377 9.73 CDH23 GJB2 LHFPL5 MYO15A OTOA OTOF
3 nervous system MP:0003631 9.4 CDH23 GJB2 LHFPL5 MYO15A OTOA OTOF

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:

40
Brain

Publications for Deafness, Autosomal Recessive 16

Articles related to Deafness, Autosomal Recessive 16:

(show all 17)
# Title Authors PMID Year
1
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. 61 56 6
11687802 2001
2
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. 61 56
26011646 2015
3
Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132. 61 56
10090914 1999
4
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. 61 56
9429146 1997
5
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. 56
22147502 2012
6
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
7
Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane. 61
31776257 2019
8
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene. 61
31552524 2019
9
Rapid screening of copy number variations in STRC by droplet digital PCR in patients with mild-to-moderate hearing loss. 61
31645979 2019
10
Phenotypic Characterization of DFNB16-associated Hearing Loss. 61
30531641 2019
11
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss. 61
31884617 2019
12
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype. 61
30250054 2018
13
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization. 61
27469136 2016
14
Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane. 61
21165971 2011
15
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents. 61
19246478 2009
16
Hereditary deafness and phenotyping in humans. 61
12324385 2002
17
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26. 61
11571554 2001

Variations for Deafness, Autosomal Recessive 16

ClinVar genetic disease variations for Deafness, Autosomal Recessive 16:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STRC NM_153700.2(STRC):c.4701+1G>ASNV Pathogenic 165305 rs199839039 15:43893593-43893593 15:43601395-43601395
2 STRC NM_153700.2(STRC):c.3156dup (p.Cys1053fs)duplication Pathogenic 4343 rs786200882 15:43903495-43903496 15:43611297-43611298
3 STRC NM_153700.2(STRC):c.2171_2174del (p.Val724fs)deletion Pathogenic 4344 rs786200883 15:43906634-43906637 15:43614436-43614439
4 STRC NC_000015.10:g.(?_43599438)_(43608225_43613711)deldeletion Pathogenic 4345 15:43599438-43613711
5 STRC NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)SNV Pathogenic 242391 rs774312182 15:43896918-43896918 15:43604720-43604720
6 CATSPER2 , STRC deletion Pathogenic 560061 15:43892807-43939642 15:43600609-43647444
7 STRC NC_000015.9:g.(43886857_43888004)_(43984930_43992627)deldeletion Pathogenic 562140 15:43886857-43992627 15:43594659-43700429
8 CATSPER2 , CKMT1B , STRC GRCh37/hg19 15q15.3(chr15:43891364-43939659)copy number loss Pathogenic 625827 15:43891364-43939659
9 CATSPER2 , CKMT1B , STRC GRCh37/hg19 15q15.3(chr15:43890409-43939642)copy number loss Pathogenic 625830 15:43890409-43939642
10 STRC NM_153700.2:c.3499_4701+1deldeletion Pathogenic 692158
11 STRC NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)SNV Pathogenic/Likely pathogenic 448908 rs144948296 15:43896948-43896948 15:43604750-43604750
12 STRC NM_153700.2(STRC):c.4219-1G>ASNV Pathogenic/Likely pathogenic 505435 rs748854592 15:43896351-43896351 15:43604153-43604153
13 STRC NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter)SNV Likely pathogenic 623234 rs756606635 15:43895442-43895442 15:43603244-43603244
14 STRC NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter)SNV Likely pathogenic 627479 rs763904943 15:43893731-43893731 15:43601533-43601533
15 STRC NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)SNV Likely pathogenic 165308 rs727503443 15:43895560-43895560 15:43603362-43603362
16 STRC NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)SNV Likely pathogenic 212742 rs778909195 15:43896218-43896218 15:43604020-43604020
17 STRC NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)SNV Conflicting interpretations of pathogenicity 417924 rs2920791 15:43892807-43892807 15:43600609-43600609
18 STRC NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe)indel Uncertain significance 165301 rs727503441 15:43892807-43892808 15:43600609-43600610
19 STRC NM_153700.2(STRC):c.1576C>T (p.Arg526Cys)SNV Uncertain significance 520412 rs1555447608 15:43908188-43908188 15:43615990-43615990
20 STRC NM_153700.2(STRC):c.179T>C (p.Phe60Ser)SNV Benign 156030 rs2729509 15:43910440-43910440 15:43618242-43618242

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 tip GO:0032426 9.26 USH1C TMC1 STRC LHFPL5
2 stereocilium bundle GO:0032421 9.16 PTPRQ MYO15A
3 stereocilium GO:0032420 9.02 USH1C STRC PCDH15 MYO15A CDH23

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.65 PCDH15 MYO15A CDH23
2 photoreceptor cell maintenance GO:0045494 9.61 USH1C PCDH15 CDH23
3 inner ear receptor cell stereocilium organization GO:0060122 9.58 USH1C PCDH15 CDH23
4 inner ear morphogenesis GO:0042472 9.56 USH1C TMIE PTPRQ MYO15A
5 auditory receptor cell stereocilium organization GO:0060088 9.54 STRC PCDH15 LHFPL5
6 sensory perception of light stimulus GO:0050953 9.5 USH1C PCDH15 CDH23
7 response to progesterone GO:0032570 9.49 GJB2 CATSPER2
8 inner ear auditory receptor cell differentiation GO:0042491 9.46 USH1C PCDH15
9 sensory perception of sound GO:0007605 9.36 USH1C TMIE TMC1 STRC PCDH15 OTOGL
10 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.35 TMC1 STRC PTPRQ PCDH15 LHFPL5
11 equilibrioception GO:0050957 9.33 USH1C PCDH15 CDH23

Sources for Deafness, Autosomal Recessive 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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