DFNB79
MCID: DFN123
MIFTS: 35

Deafness, Autosomal Recessive 79 (DFNB79)

Categories: Blood diseases, 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 56 29 13 6 71
Dfnb79 56 12 73
Autosomal Recessive Nonsyndromic Deafness 79 12 15
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79 73
Deafness, Autosomal Recessive, Type 79 39
Deafness, Autosomal Recessive, 79 73
Autosomal Recessive Deafness 79 12

Characteristics:

OMIM:

56
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 56 613307
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C2750082
UMLS 71 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 nonsyndromic hearing loss. 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 : 73 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 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
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 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 76)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 30.7 MYO15A GJB2
2 nonsyndromic hearing loss 29.0 TMC1 MYO3A MYO15A GJB2 CEACAM16
3 branchiootic syndrome 1 28.5 WHRN TMC1 PTPRQ GRXCR1 GJB2
4 sensorineural hearing loss 27.0 WHRN TPRN TMC1 SMPX RIPOR2 PTPRQ
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 26.4 WHRN TPRN TMC1 RIPOR2 PTPRQ MYO3A
6 deafness, x-linked 3 10.3 TPRN SMPX
7 deafness, autosomal dominant 51 10.3 TPRN SMPX
8 deafness, autosomal recessive 102 10.3 WHRN MYO15A
9 deafness, autosomal dominant 47 10.3 WHRN QSOX2
10 deafness, autosomal dominant 48 10.2 MYO3A MYO15A
11 deafness, autosomal recessive 24 10.2 TPRN MYO15A
12 deafness, autosomal recessive 15 10.2 MYO15A CEACAM16
13 usher syndrome, type iid 10.2 WHRN MYO15A
14 deafness, autosomal recessive 33 10.2
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
16 deafness, autosomal recessive 3 10.1 MYO15A GJB2
17 deafness, autosomal dominant 27 10.1 MYO15A GRXCR1
18 usher syndrome, type if 10.1 WHRN MYO15A
19 deafness, autosomal recessive 25 10.1 MYO15A GRXCR1
20 deafness, autosomal recessive 35 10.1 MYO15A GRXCR1
21 deafness, autosomal recessive 63 10.1 TMC1 MYO15A
22 deafness, autosomal recessive 91 10.1 TPRN GJB2
23 postaxial acrofacial dysostosis 10.1 TPRN CEACAM16
24 deafness, autosomal recessive 48 10.1 WHRN TMC1
25 deafness, autosomal dominant 64 10.0 GJB2 CEACAM16
26 deafness, autosomal recessive 30 10.0 WHRN MYO3A MYO15A
27 deafness, autosomal recessive 49 10.0 MYO15A GJB2
28 deafness, autosomal recessive 28 10.0 TPRN MYO15A GRXCR1
29 deafness, autosomal dominant 56 10.0 WHRN GJB2
30 deafness, autosomal recessive 77 10.0 MYO3A GJB2
31 deafness, autosomal dominant 20 9.9 TPRN TMC1 SMPX
32 deafness, autosomal recessive 83 9.9 PTPRQ MYO15A
33 deafness, autosomal recessive 23 9.9 WHRN TMC1 MYO15A
34 deafness, autosomal recessive 21 9.9 MYO15A GJB2 CEACAM16
35 deafness, autosomal recessive 93 9.9 TMC1 GJB2
36 vestibular disease 9.8 MYO15A GJB2
37 x-linked nonsyndromic deafness 9.8 TPRN SMPX GJB2
38 usher syndrome, type iia 9.8 WHRN GJB2
39 deafness, autosomal recessive 66 9.8 PTPRQ CEACAM16
40 deafness, autosomal recessive 7 9.8 TMC1 MYO15A GJB2
41 deafness, autosomal dominant 17 9.8 TPRN RIPOR2 MYO3A MYO15A
42 deafness, autosomal dominant 50 9.7 QSOX2 PTPRQ
43 deafness, autosomal recessive 22 9.7 PTPRQ MYO15A CEACAM16
44 deafness, autosomal dominant 36 9.7 TMC1 MYO15A GJB2
45 deafness, autosomal recessive 8 9.7 TMC1 MYO15A GJB2
46 deafness, autosomal recessive 13 9.7 TMC1 MYO3A GRXCR1
47 deafness, autosomal recessive 9 9.7 TMC1 MYO15A GJB2
48 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 TMC1 MYO15A GJB2
49 deafness, autosomal recessive 61 9.7 TPRN PTPRQ MYO3A
50 usher syndrome, type iic 9.7 WHRN PTPRQ MYO15A

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:

56
Head And Neck Ears:
hearing loss, sensorineural, progressive (severe to profound)

Clinical features from OMIM:

613307

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 79:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 CEACAM16 GRXCR1 MYO15A MYO3A PTPRQ TMC1
2 hearing/vestibular/ear MP:0005377 9.65 CEACAM16 GJB2 GRXCR1 MYO15A MYO3A PTPRQ
3 nervous system MP:0003631 9.28 GJB2 GRXCR1 MYO15A MYO3A PTPRQ RIPOR2

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. 61 56 6
20170898 2010
2
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. 56 6 61
20170899 2010
3
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. 56 61
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 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TPRN NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter)SNV Pathogenic 134 rs267607135 9:140093925-140093925 9:137199473-137199473
2 TPRN NM_001128228.3(TPRN):c.1427del (p.Pro476fs)deletion Pathogenic 135 rs387906219 9:140093737-140093737 9:137199285-137199285
3 TPRN NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs)duplication Pathogenic 136 rs387906220 9:140094926-140094927 9:137200474-137200475
4 TPRN NM_001128228.3(TPRN):c.214_224GGGGGCGCGGC[1] (p.Gly76fs)short repeat Pathogenic 137 rs387906221 9:140094929-140094939 9:137200477-137200487
5 TPRN NM_001128228.3(TPRN):c.1530del (p.Thr511fs)deletion Pathogenic 138 rs387906222 9:140093634-140093634 9:137199182-137199182
6 TPRN NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter)SNV Pathogenic 627483 rs1564386891 9:140095111-140095111 9:137200659-137200659
7 TPRN NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter)SNV Likely pathogenic 627484 rs1187168418 9:140094005-140094005 9:137199553-137199553
8 TPRN NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys)SNV Uncertain significance 440352 rs370001536 9:140086933-140086933 9:137192481-137192481
9 TPRN NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe)SNV Uncertain significance 811203 9:140093468-140093468 9:137199016-137199016
10 TPRN NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr)SNV Likely benign 228025 rs139520402 9:140086761-140086761 9:137192309-137192309
11 TPRN NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu)SNV Likely benign 165576 rs727503520 9:140086727-140086727 9:137192275-137192275
12 TPRN NM_001128228.3(TPRN):c.858C>T (p.Cys286=)SNV Benign/Likely benign 193179 rs375619082 9:140094306-140094306 9:137199854-137199854
13 TPRN NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser)SNV Benign 193181 rs9411313 9:140094605-140094605 9:137200153-137200153

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 cell projection GO:0042995 9.73 WHRN TPRN RIPOR2 MYO3A MYO15A GRXCR1
2 stereocilium bundle GO:0032421 9.33 WHRN PTPRQ MYO15A
3 stereocilium tip GO:0032426 9.26 WHRN TMC1 MYO3A CEACAM16
4 stereocilium GO:0032420 9.1 WHRN TPRN RIPOR2 MYO3A MYO15A GRXCR1

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 9.37 WHRN RIPOR2
2 auditory receptor cell stereocilium organization GO:0060088 9.33 WHRN TPRN RIPOR2
3 inner ear receptor cell stereocilium organization GO:0060122 9.32 WHRN GRXCR1
4 sensory perception of sound GO:0007605 9.28 WHRN TPRN TMC1 RIPOR2 MYO3A MYO15A
5 inner ear receptor cell development GO:0060119 9.26 WHRN GRXCR1
6 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.13 WHRN TMC1 PTPRQ

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
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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