MCID: DFN121
MIFTS: 31

Deafness, Autosomal Recessive 28

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

Aliases & Classifications for Deafness, Autosomal Recessive 28

MalaCards integrated aliases for Deafness, Autosomal Recessive 28:

Name: Deafness, Autosomal Recessive 28 57 29 13 6 73
Dfnb28 57 12 75
Autosomal Recessive Nonsyndromic Deafness 28 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 28 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 28 75
Deafness, Autosomal Recessive, Type 28 40
Deafness, Autosomal Recessive, 28 75
Autosomal Recessive Deafness 28 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

32
deafness, autosomal recessive 28:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 609823
Disease Ontology 12 DOID:0110486
ICD10 33 H90.3
MedGen 42 C1853276
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005
UMLS 73 C1853276

Summaries for Deafness, Autosomal Recessive 28

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 28: 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 28, also known as dfnb28, is related to autosomal recessive nonsyndromic deafness 36 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Recessive 28 is TRIOBP (TRIO And F-Actin Binding Protein), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include brain, and related phenotypes are severe sensorineural hearing impairment 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 TRIOBP gene on chromosome 22q13.

Description from OMIM: 609823

Related Diseases for Deafness, Autosomal Recessive 28

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 32 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 Recessive 105 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 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 28 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 36 10.1 ESPN FSCN1
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
3 non-syndromic genetic deafness 9.7 GJB2 TRIOBP
4 autosomal recessive nonsyndromic deafness 9.7 GJB2 TRIOBP
5 deafness, autosomal recessive 30 9.7 ESPN GJB2
6 hypotrichosis-deafness syndrome 9.7 GJB2 GJB3
7 deafness, autosomal recessive 93 9.6 GJB2 GJB3
8 kid syndrome 9.6 GJB2 GJB3
9 pseudoainhum 9.6 GJB2 GJB3
10 hodgkin's lymphoma, nodular sclerosis 9.6 GJB2 GJB3
11 deafness, autosomal recessive 1a 9.6 GJB2 GJB3
12 knuckle pads 9.6 GJB2 GJB3
13 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.6 GJB2 GJB3
14 vestibular disease 9.6 GJB2 GJB3
15 erythrokeratodermia variabilis et progressiva 1 9.5 GJB2 GJB3
16 autosomal dominant non-syndromic sensorineural deafness type dfna 9.5 GJB2 GJB3
17 clouston syndrome 9.5 GJB2 GJB3
18 palmoplantar keratosis 9.4 GJB2 GJB3
19 inner ear disease 9.4 GJB2 GJB3
20 auditory system disease 9.4 GJB2 GJB3
21 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.3 GJB2 GJB3
22 autosomal dominant nonsyndromic deafness 9.2 GJB2 GJB3
23 sensorineural hearing loss 9.1 GJB2 GJB3
24 deafness, autosomal recessive 67 9.0 ESPN GJB2 GJB3
25 deafness, autosomal recessive 9.0 ESPN GJB2 GJB3
26 skin disease 8.9 GJB2 GJB3
27 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.5 ESPN GJB2 GJB3 TRIOBP
28 nonsyndromic deafness 8.5 ESPN GJB2 GJB3 TRIOBP

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 28:



Diseases related to Deafness, Autosomal Recessive 28

Symptoms & Phenotypes for Deafness, Autosomal Recessive 28

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

609823

Human phenotypes related to Deafness, Autosomal Recessive 28:

32
# Description HPO Frequency HPO Source Accession
1 severe sensorineural hearing impairment 32 HP:0008625

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 28:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 ESPN GJB2 TRIOBP

Drugs & Therapeutics for Deafness, Autosomal Recessive 28

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 28

Genetic Tests for Deafness, Autosomal Recessive 28

Genetic tests related to Deafness, Autosomal Recessive 28:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 28 29 TRIOBP

Anatomical Context for Deafness, Autosomal Recessive 28

MalaCards organs/tissues related to Deafness, Autosomal Recessive 28:

41
Brain

Publications for Deafness, Autosomal Recessive 28

Variations for Deafness, Autosomal Recessive 28

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 28:

75
# Symbol AA change Variation ID SNP ID
1 TRIOBP p.Gly1019Arg VAR_025719

ClinVar genetic disease variations for Deafness, Autosomal Recessive 28:

6
(show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIOBP NM_001039141.2(TRIOBP): c.1039C> T (p.Arg347Ter) single nucleotide variant Pathogenic rs118204026 GRCh37 Chromosome 22, 38119602: 38119602
2 TRIOBP NM_001039141.2(TRIOBP): c.1039C> T (p.Arg347Ter) single nucleotide variant Pathogenic rs118204026 GRCh38 Chromosome 22, 37723595: 37723595
3 TRIOBP NM_001039141.2(TRIOBP): c.1741C> T (p.Gln581Ter) single nucleotide variant Pathogenic rs118204027 GRCh37 Chromosome 22, 38120304: 38120304
4 TRIOBP NM_001039141.2(TRIOBP): c.1741C> T (p.Gln581Ter) single nucleotide variant Pathogenic rs118204027 GRCh38 Chromosome 22, 37724297: 37724297
5 TRIOBP NM_001039141.2(TRIOBP): c.889C> T (p.Gln297Ter) single nucleotide variant Pathogenic rs118204028 GRCh37 Chromosome 22, 38119452: 38119452
6 TRIOBP NM_001039141.2(TRIOBP): c.889C> T (p.Gln297Ter) single nucleotide variant Pathogenic rs118204028 GRCh38 Chromosome 22, 37723445: 37723445
7 TRIOBP NM_001039141.2(TRIOBP): c.2362C> T (p.Arg788Ter) single nucleotide variant Pathogenic rs118204029 GRCh37 Chromosome 22, 38120925: 38120925
8 TRIOBP NM_001039141.2(TRIOBP): c.2362C> T (p.Arg788Ter) single nucleotide variant Pathogenic rs118204029 GRCh38 Chromosome 22, 37724918: 37724918
9 TRIOBP NM_001039141.2(TRIOBP): c.3202C> T (p.Arg1068Ter) single nucleotide variant Pathogenic rs118204030 GRCh37 Chromosome 22, 38121765: 38121765
10 TRIOBP NM_001039141.2(TRIOBP): c.3202C> T (p.Arg1068Ter) single nucleotide variant Pathogenic rs118204030 GRCh38 Chromosome 22, 37725758: 37725758
11 TRIOBP NM_001039141.2(TRIOBP): c.3349C> T (p.Arg1117Ter) single nucleotide variant Pathogenic rs118204031 GRCh37 Chromosome 22, 38121912: 38121912
12 TRIOBP NM_001039141.2(TRIOBP): c.3349C> T (p.Arg1117Ter) single nucleotide variant Pathogenic rs118204031 GRCh38 Chromosome 22, 37725905: 37725905
13 TRIOBP TRIOBP, 2-BP DEL, 3202CG deletion Pathogenic
14 TRIOBP TRIOBP, 1-BP INS, 3225C insertion Pathogenic
15 TRIOBP NM_001039141.2(TRIOBP): c.815C> A (p.Thr272Lys) single nucleotide variant Uncertain significance rs140901235 GRCh38 Chromosome 22, 37723371: 37723371
16 TRIOBP NM_001039141.2(TRIOBP): c.815C> A (p.Thr272Lys) single nucleotide variant Uncertain significance rs140901235 GRCh37 Chromosome 22, 38119378: 38119378
17 TRIOBP NM_001039141.2(TRIOBP): c.6860G> A (p.Arg2287His) single nucleotide variant Uncertain significance rs370737996 GRCh38 Chromosome 22, 37771660: 37771660
18 TRIOBP NM_001039141.2(TRIOBP): c.6860G> A (p.Arg2287His) single nucleotide variant Uncertain significance rs370737996 GRCh37 Chromosome 22, 38167667: 38167667
19 TRIOBP NM_001039141.2(TRIOBP): c.3854_3855delGA (p.Arg1285Thrfs) deletion Likely pathogenic rs886043389 GRCh37 Chromosome 22, 38122417: 38122418
20 TRIOBP NM_001039141.2(TRIOBP): c.3854_3855delGA (p.Arg1285Thrfs) deletion Likely pathogenic rs886043389 GRCh38 Chromosome 22, 37726410: 37726411
21 TRIOBP NM_001039141.2(TRIOBP): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic rs1060499809 GRCh37 Chromosome 22, 38120010: 38120010
22 TRIOBP NM_001039141.2(TRIOBP): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic rs1060499809 GRCh38 Chromosome 22, 37724003: 37724003
23 TRIOBP NM_001039141.2(TRIOBP): c.3055G> A (p.Gly1019Arg) single nucleotide variant Pathogenic rs549095193 GRCh37 Chromosome 22, 38121618: 38121618
24 TRIOBP NM_001039141.2(TRIOBP): c.3055G> A (p.Gly1019Arg) single nucleotide variant Pathogenic rs549095193 GRCh38 Chromosome 22, 37725611: 37725611
25 TRIOBP NM_001039141.2(TRIOBP): c.3145_3146delAG (p.Ser1049Terfs) deletion Likely pathogenic GRCh37 Chromosome 22, 38121708: 38121709
26 TRIOBP NM_001039141.2(TRIOBP): c.3145_3146delAG (p.Ser1049Terfs) deletion Likely pathogenic GRCh38 Chromosome 22, 37725701: 37725702
27 TRIOBP NM_001039141.2(TRIOBP): c.251_254+22del26 deletion Pathogenic GRCh37 Chromosome 22, 38106570: 38106595
28 TRIOBP NM_001039141.2(TRIOBP): c.251_254+22del26 deletion Pathogenic GRCh38 Chromosome 22, 37710563: 37710588
29 TRIOBP NM_001039141.2(TRIOBP): c.1478G> A (p.Ser493Asn) single nucleotide variant Benign/Likely benign rs4821700 GRCh38 Chromosome 22, 37724034: 37724034
30 TRIOBP NM_001039141.2(TRIOBP): c.1478G> A (p.Ser493Asn) single nucleotide variant Benign/Likely benign rs4821700 GRCh37 Chromosome 22, 38120041: 38120041
31 TRIOBP NM_001039141.2(TRIOBP): c.2064C> A (p.Ser688Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 38120627: 38120627
32 TRIOBP NM_001039141.2(TRIOBP): c.2064C> A (p.Ser688Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 37724620: 37724620

Expression for Deafness, Autosomal Recessive 28

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 28.

Pathways for Deafness, Autosomal Recessive 28

Pathways related to Deafness, Autosomal Recessive 28 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.61 GJB2 GJB3

GO Terms for Deafness, Autosomal Recessive 28

Cellular components related to Deafness, Autosomal Recessive 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.58 FSCN1 GJB2 GJB3
2 cell-cell junction GO:0005911 9.43 FSCN1 GJB3
3 microvillus GO:0005902 9.37 ESPN FSCN1
4 stereocilium GO:0032420 9.32 ESPN TRIOBP
5 filamentous actin GO:0031941 9.26 ESPN FSCN1
6 gap junction GO:0005921 9.16 GJB2 GJB3
7 actin cytoskeleton GO:0015629 9.13 ESPN FSCN1 TRIOBP
8 connexin complex GO:0005922 8.62 GJB2 GJB3

Biological processes related to Deafness, Autosomal Recessive 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of actin cytoskeleton organization GO:0032956 9.32 FSCN1 TRIOBP
2 cell communication GO:0007154 9.26 GJB2 GJB3
3 positive regulation of filopodium assembly GO:0051491 9.16 ESPN FSCN1
4 sensory perception of sound GO:0007605 9.13 ESPN GJB2 TRIOBP
5 actin filament bundle assembly GO:0051017 8.8 ESPN FSCN1 TRIOBP

Molecular functions related to Deafness, Autosomal Recessive 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.13 ESPN FSCN1 TRIOBP
2 gap junction channel activity GO:0005243 8.62 GJB2 GJB3

Sources for Deafness, Autosomal Recessive 28

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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