DFNB79
MCID: DFN123
MIFTS: 31

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 57 29 13 6 73
Dfnb79 57 12 75
Autosomal Recessive Nonsyndromic Deafness 79 12 15
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79 75
Deafness, Autosomal Recessive, Type 79 40
Deafness, Autosomal Recessive, 79 75
Autosomal Recessive Deafness 79 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
deafness, autosomal recessive 79:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613307
Disease Ontology 12 DOID:0110526
ICD10 33 H90.3
MedGen 42 C2750082
MeSH 44 D006319
UMLS 73 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 kleefstra syndrome. An important gene associated with Deafness, Autosomal Recessive 79 is TPRN (Taperin), and among its related pathways/superpathways is MicroRNAs in cancer. Affiliated tissues include heart, and related phenotypes are delayed speech and language development and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 613307

Related Diseases for Deafness, Autosomal Recessive 79

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 79 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 10.3
2 kleefstra syndrome 10.0 EHMT1 NOTCH1
3 hypoplastic left heart syndrome 9.9 EHMT1 NOTCH1
4 deafness, autosomal recessive 33 9.1 CACNA1B EDF1 EHMT1 MIR602 NOTCH1 PTGDS

Symptoms & Phenotypes for Deafness, Autosomal Recessive 79

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, progressive (severe to profound)


Clinical features from OMIM:

613307

Human phenotypes related to Deafness, Autosomal Recessive 79:

32
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 sensorineural hearing impairment 32 HP:0000407
3 progressive sensorineural hearing impairment 32 HP:0000408

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 79:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.26 ACTB NOTCH1 RDX TPRN
2 nervous system MP:0003631 9.17 ACTB CACNA1B EHMT1 NOTCH1 PTGDS RDX

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

MalaCards organs/tissues related to Deafness, Autosomal Recessive 79:

41
Heart

Publications for Deafness, Autosomal Recessive 79

Variations for Deafness, Autosomal Recessive 79

ClinVar genetic disease variations for Deafness, Autosomal Recessive 79:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPRN NM_001128228.2(TPRN): c.1239G> A (p.Trp413Ter) single nucleotide variant Pathogenic rs267607135 GRCh38 Chromosome 9, 137199473: 137199473
2 TPRN NM_001128228.2(TPRN): c.1239G> A (p.Trp413Ter) single nucleotide variant Pathogenic rs267607135 GRCh37 Chromosome 9, 140093925: 140093925
3 TPRN NM_001128228.2(TPRN): c.1427delC (p.Pro476Argfs) deletion Pathogenic rs387906219 GRCh37 Chromosome 9, 140093737: 140093737
4 TPRN NM_001128228.2(TPRN): c.1427delC (p.Pro476Argfs) deletion Pathogenic rs387906219 GRCh38 Chromosome 9, 137199285: 137199285
5 TPRN NM_001128228.2(TPRN): c.227_237dupGGGCGCGGCTG (p.Leu80Glyfs) duplication Pathogenic rs387906220 GRCh37 Chromosome 9, 140094927: 140094937
6 TPRN NM_001128228.2(TPRN): c.227_237dupGGGCGCGGCTG (p.Leu80Glyfs) duplication Pathogenic rs387906220 GRCh38 Chromosome 9, 137200475: 137200485
7 TPRN NM_001128228.2(TPRN): c.225_235delGGGGGCGCGGC (p.Gly76Alafs) deletion Pathogenic rs387906221 GRCh37 Chromosome 9, 140094929: 140094939
8 TPRN NM_001128228.2(TPRN): c.225_235delGGGGGCGCGGC (p.Gly76Alafs) deletion Pathogenic rs387906221 GRCh38 Chromosome 9, 137200477: 137200487
9 TPRN NM_001128228.2(TPRN): c.1530delG (p.Thr511Leufs) deletion Pathogenic rs387906222 GRCh37 Chromosome 9, 140093634: 140093634
10 TPRN NM_001128228.2(TPRN): c.1530delG (p.Thr511Leufs) deletion Pathogenic rs387906222 GRCh38 Chromosome 9, 137199182: 137199182
11 TPRN NM_001128228.2(TPRN): c.2057C> T (p.Pro686Leu) single nucleotide variant Likely benign rs727503520 GRCh37 Chromosome 9, 140086727: 140086727
12 TPRN NM_001128228.2(TPRN): c.2057C> T (p.Pro686Leu) single nucleotide variant Likely benign rs727503520 GRCh38 Chromosome 9, 137192275: 137192275
13 TPRN NM_001128228.2(TPRN): c.2023G> A (p.Ala675Thr) single nucleotide variant Likely benign rs139520402 GRCh38 Chromosome 9, 137192309: 137192309
14 TPRN NM_001128228.2(TPRN): c.2023G> A (p.Ala675Thr) single nucleotide variant Likely benign rs139520402 GRCh37 Chromosome 9, 140086761: 140086761

Expression for Deafness, Autosomal Recessive 79

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

Pathways for Deafness, Autosomal Recessive 79

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

# Super pathways Score Top Affiliating Genes
1 11.28 MIR602 NOTCH1 RDX

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 periphery GO:0071944 8.96 NOTCH1 RDX
2 stereocilium GO:0032420 8.62 RDX TPRN

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 8.62 PPP1R18 TPRN

Sources for Deafness, Autosomal Recessive 79

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
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