DFNB79
MCID: DFN123
MIFTS: 34

Deafness, Autosomal Recessive 79 (DFNB79)

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

Aliases & Classifications for Deafness, Autosomal Recessive 79

MalaCards integrated aliases for Deafness, Autosomal Recessive 79:

Name: Deafness, Autosomal Recessive 79 57 29 13 6 70
Dfnb79 57 12 72
Autosomal Recessive Nonsyndromic Deafness 79 12 15
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79 72
Deafness, Autosomal Recessive, Type 79 39
Deafness, Autosomal Recessive, 79 72
Autosomal Recessive Deafness 79 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
dutch, pakistani, and moroccan families have been described
onset of hearing loss in first decade of life


HPO:

31
deafness, autosomal recessive 79:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110526
OMIM® 57 613307
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C2750082
UMLS 70 C2750082

Summaries for Deafness, Autosomal Recessive 79

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 TPRN gene on chromosome 9q34.

MalaCards based summary : Deafness, Autosomal Recessive 79, also known as dfnb79, is related to nonsyndromic deafness and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 79 is TPRN (Taperin). Related phenotypes are delayed speech and language development and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 79: A form of non-syndromic deafness characterized by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction.

More information from OMIM: 613307 PS220290

Related Diseases for Deafness, Autosomal Recessive 79

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
Deafness, Autosomal Dominant 80 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 Recessive 79 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 29.4 TMC1 MYO15A GPSM2 GJB2
2 branchiootic syndrome 1 29.3 WHRN TMC1 GPSM2 GJB2
3 nonsyndromic hearing loss 28.5 TMC1 MYO3A MYO15A GPSM2 GJB2 CEACAM16
4 autosomal recessive non-syndromic sensorineural deafness type dfnb 27.4 WHRN TPRN TMC1 RIPOR2 MYO3A MYO15A
5 sensorineural hearing loss 27.3 WHRN TPRN TMC1 SMPX RIPOR2 MYO3A
6 deafness, autosomal recessive 83 10.2 MYO15A GPSM2
7 deafness, autosomal recessive 28 10.2 TPRN MYO15A
8 deafness, autosomal recessive 102 10.2 WHRN MYO15A
9 deafness, x-linked 3 10.2 TPRN SMPX
10 deafness, autosomal recessive 24 10.2 TPRN MYO15A
11 deafness, autosomal dominant 51 10.2 TPRN SMPX
12 deafness, autosomal dominant 47 10.2 WHRN QSOX2
13 usher syndrome, type iid 10.1 WHRN MYO15A
14 deafness, autosomal recessive 15 10.1 MYO15A CEACAM16
15 deafness, x-linked 4 10.1 SMPX GPSM2
16 deafness, autosomal recessive 61 10.1 TPRN MYO3A
17 deafness, autosomal dominant 48 10.1 MYO3A MYO15A
18 postaxial acrofacial dysostosis 10.1 TPRN CEACAM16
19 deafness, autosomal recessive 48 10.1 WHRN TMC1
20 usher syndrome, type if 10.0 WHRN MYO15A
21 deafness, autosomal recessive 13 10.0 TMC1 MYO3A
22 deafness, autosomal recessive 37 10.0 TPRN MYO3A MYO15A
23 deafness, autosomal dominant 22 10.0 TPRN MYO3A MYO15A
24 usher syndrome, type iic 10.0 WHRN MYO15A
25 deafness, autosomal recessive 63 10.0 TMC1 MYO15A
26 deafness, autosomal recessive 3 10.0 MYO15A GJB2
27 autosomal recessive nonsyndromic deafness 36 10.0 WHRN TPRN MYO3A
28 deafness, autosomal recessive 91 10.0 TPRN GJB2
29 deafness, autosomal recessive 30 9.9 WHRN MYO3A MYO15A
30 deafness, autosomal dominant 6 9.9 MYO15A GJB2
31 deafness, autosomal dominant 64 9.9 GJB2 CEACAM16
32 deafness, autosomal dominant 20 9.9 TPRN TMC1 SMPX
33 deafness, autosomal dominant 56 9.9 WHRN GJB2
34 deafness, autosomal recessive 33 9.9
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
36 deafness, autosomal recessive 49 9.9 MYO15A GJB2
37 auditory neuropathy, autosomal dominant, 1 9.9 PPP1R18 GJB2
38 vestibular disease 9.8 MYO15A GJB2
39 deafness, autosomal recessive 77 9.8 MYO3A GJB2
40 usher syndrome, type ic 9.8 TMC1 GJB2
41 x-linked nonsyndromic deafness 9.7 TPRN SMPX GJB2
42 hereditary hearing loss and deafness 9.7 SMPX GPSM2 GJB2
43 deafness, autosomal recessive 7 9.7 TMC1 MYO15A GJB2
44 deafness, autosomal recessive 16 9.7 TMC1 MYO15A GJB2
45 deafness, autosomal recessive 8 9.7 TMC1 MYO15A GJB2
46 deafness, autosomal dominant 36 9.7 TMC1 MYO15A GJB2
47 deafness, autosomal recessive 9 9.7 TMC1 MYO15A GJB2
48 deafness, autosomal dominant 17 9.7 TPRN RIPOR2 MYO3A MYO15A
49 usher syndrome, type iia 9.6 WHRN TMC1 GJB2
50 deafness, autosomal dominant 3b 9.6 TPRN SMPX GJB2 CEACAM16

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 79:



Diseases related to Deafness, Autosomal Recessive 79

Symptoms & Phenotypes for Deafness, Autosomal Recessive 79

Human phenotypes related to Deafness, Autosomal Recessive 79:

31
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 HP:0000750
2 sensorineural hearing impairment 31 HP:0000407
3 progressive sensorineural hearing impairment 31 HP:0000408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
hearing loss, sensorineural, progressive (severe to profound)

Clinical features from OMIM®:

613307 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 79:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.61 CEACAM16 GJB2 GPSM2 MYO15A MYO3A RIPOR2
2 nervous system MP:0003631 9.23 GJB2 GPSM2 MYO15A MYO3A RIPOR2 TMC1

Drugs & Therapeutics for Deafness, Autosomal Recessive 79

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 79

Genetic Tests for Deafness, Autosomal Recessive 79

Genetic tests related to Deafness, Autosomal Recessive 79:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 79 29 TPRN

Anatomical Context for Deafness, Autosomal Recessive 79

Publications for Deafness, Autosomal Recessive 79

Articles related to Deafness, Autosomal Recessive 79:

# Title Authors PMID Year
1
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. 57 6 61
20170898 2010
2
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. 57 6 61
20170899 2010
3
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. 61 57
19603065 2010
4
Tprn is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice. 61
30159668 2019
5
The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan. 61
23340767 2013

Variations for Deafness, Autosomal Recessive 79

ClinVar genetic disease variations for Deafness, Autosomal Recessive 79:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TPRN NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs) Duplication Pathogenic 136 rs387906220 GRCh37: 9:140094926-140094927
GRCh38: 9:137200474-137200475
2 TPRN NM_001128228.3(TPRN):c.1530del (p.Thr511fs) Deletion Pathogenic 138 rs387906222 GRCh37: 9:140093634-140093634
GRCh38: 9:137199182-137199182
3 TPRN NM_001128228.3(TPRN):c.214_224GGGGGCGCGGC[1] (p.Gly76fs) Microsatellite Pathogenic 137 rs387906221 GRCh37: 9:140094929-140094939
GRCh38: 9:137200477-137200487
4 TPRN NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter) SNV Pathogenic 627483 rs1564386891 GRCh37: 9:140095111-140095111
GRCh38: 9:137200659-137200659
5 TPRN NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) SNV Pathogenic 134 rs267607135 GRCh37: 9:140093925-140093925
GRCh38: 9:137199473-137199473
6 TPRN NM_001128228.3(TPRN):c.1427del (p.Pro476fs) Deletion Pathogenic 135 rs387906219 GRCh37: 9:140093737-140093737
GRCh38: 9:137199285-137199285
7 TPRN NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter) SNV Likely pathogenic 627484 rs1187168418 GRCh37: 9:140094005-140094005
GRCh38: 9:137199553-137199553
8 TPRN NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe) SNV Uncertain significance 811203 rs201404168 GRCh37: 9:140093468-140093468
GRCh38: 9:137199016-137199016
9 TPRN NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr) SNV Uncertain significance 228025 rs139520402 GRCh37: 9:140086761-140086761
GRCh38: 9:137192309-137192309
10 TPRN NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu) SNV Uncertain significance 165576 rs727503520 GRCh37: 9:140086727-140086727
GRCh38: 9:137192275-137192275
11 TPRN NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys) SNV Uncertain significance 440352 rs370001536 GRCh37: 9:140086933-140086933
GRCh38: 9:137192481-137192481
12 TPRN NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser) SNV Benign 193181 rs9411313 GRCh37: 9:140094605-140094605
GRCh38: 9:137200153-137200153
13 TPRN NM_001128228.3(TPRN):c.858C>T (p.Cys286=) SNV Benign 193179 rs375619082 GRCh37: 9:140094306-140094306
GRCh38: 9:137199854-137199854
14 TPRN NM_001128228.3(TPRN):c.1818_1820GGA[8] (p.Glu621del) Microsatellite Benign 165579 rs376810326 GRCh37: 9:140087025-140087027
GRCh38: 9:137192573-137192575

Expression for Deafness, Autosomal Recessive 79

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 79.

Pathways for Deafness, Autosomal Recessive 79

GO Terms for Deafness, Autosomal Recessive 79

Cellular components related to Deafness, Autosomal Recessive 79 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.72 RIPOR2 PPP1R18 MYO3A MYO15A GPSM2
2 cell projection GO:0042995 9.65 WHRN TPRN RIPOR2 MYO3A MYO15A
3 myosin complex GO:0016459 9.37 MYO3A MYO15A
4 stereocilium tip GO:0032426 9.26 WHRN TMC1 MYO3A CEACAM16
5 stereocilium bundle GO:0032421 9.16 WHRN MYO15A
6 stereocilium GO:0032420 9.02 WHRN TPRN RIPOR2 MYO3A MYO15A

Biological processes related to Deafness, Autosomal Recessive 79 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 establishment of protein localization GO:0045184 9.26 WHRN RIPOR2
2 sensory perception of sound GO:0007605 9.23 WHRN TPRN TMC1 RIPOR2 MYO3A MYO15A
3 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.16 WHRN TMC1
4 auditory receptor cell stereocilium organization GO:0060088 9.13 WHRN TPRN RIPOR2

Molecular functions related to Deafness, Autosomal Recessive 79 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatase binding GO:0019902 9.16 TPRN PPP1R18
2 microfilament motor activity GO:0000146 8.96 MYO3A MYO15A
3 actin-dependent ATPase activity GO:0030898 8.62 MYO3A MYO15A

Sources for Deafness, Autosomal Recessive 79

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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