DFNB93
MCID: DFN249
MIFTS: 31

Deafness, Autosomal Recessive 93 (DFNB93)

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

Aliases & Classifications for Deafness, Autosomal Recessive 93

MalaCards integrated aliases for Deafness, Autosomal Recessive 93:

Name: Deafness, Autosomal Recessive 93 57 29 13 6 70
Dfnb93 57 12 72
Autosomal Recessive Nonsyndromic Deafness 93 12 15
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 93 72
Deafness, Autosomal Recessive, Type 93 39
Deafness, Autosomal Recessive, 93 72
Autosomal Recessive Deafness 93 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
patients have a distinctive shallow u-shaped audiogram


HPO:

31
deafness, autosomal recessive 93:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110537
OMIM® 57 614899
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
UMLS 70 C3888355

Summaries for Deafness, Autosomal Recessive 93

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 93: A form of non-syndromic deafness characterized by stable, bilateral, symmetric, prelingual moderate to severe deafness. Hearing impairment is slightly more pronounced in the mid-frequencies, resulting in a distinctive shallow U-shaped audiogram.

MalaCards based summary : Deafness, Autosomal Recessive 93, also known as dfnb93, is related to deafness, autosomal recessive 28 and deafness, autosomal recessive 4, with enlarged vestibular aqueduct. An important gene associated with Deafness, Autosomal Recessive 93 is CABP2 (Calcium Binding Protein 2). Related phenotypes are hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the CABP2 gene on chromosome 11q13.

OMIM® : 57 Autosomal recessive deafness-93 is characterized by moderate to severe prelingual deafness and a distinctive U-shaped audiogram (Tabatabaiefar et al., 2011). (614899) (Updated 05-Apr-2021)

Related Diseases for Deafness, Autosomal Recessive 93

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 28 29.4 TRIOBP TMIE OTOF CABP2
2 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 28.9 TRIOBP TMIE PJVK OTOF GJB2
3 deafness, autosomal recessive 27 10.1 TMIE PJVK
4 charcot-marie-tooth disease x-linked recessive 4 10.1 PJVK CABP2
5 deafness, autosomal recessive 85 10.1 PJVK OTOF
6 auditory neuropathy spectrum disorder 10.1 PJVK OTOF
7 deafness, autosomal recessive 25 10.1 TRIOBP PJVK
8 deafness, autosomal recessive 59 10.1 PJVK OTOF
9 deafness, autosomal recessive 83 10.1 PJVK OTOF
10 y-linked deafness 10.1 TMIE OTOF
11 y-linked monogenic disease 10.1 TMIE OTOF
12 deafness, autosomal recessive 61 10.0 TRIOBP OTOF
13 deafness, x-linked 5, with peripheral neuropathy 10.0 PJVK OTOF
14 deafness, autosomal recessive 77 10.0 PJVK GJB2
15 deafness, autosomal recessive 49 10.0 PJVK GJB2
16 usher syndrome, type ic 10.0 TMIE GJB2
17 deafness, autosomal recessive 39 9.9 TRIOBP GJB2
18 dfnb1 9.9 OTOF GJB2
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
20 deafness, autosomal dominant 67 9.9 OTOF GJB2
21 deafness, autosomal dominant 1, with or without thrombocytopenia 9.9 TRIOBP GJB2
22 deafness, autosomal recessive 22 9.9 TRIOBP TMIE PJVK
23 deafness, x-linked 2 9.9 TMIE GJB2
24 erythrokeratodermia variabilis et progressiva 1 9.9 TMIE GJB2
25 deafness, autosomal recessive 53 9.9 PJVK LRTOMT
26 vestibular disease 9.9 OTOF GJB2
27 x-linked nonsyndromic deafness 9.9 OTOF GJB2
28 nonsyndromic deafness 9.8 LRTOMT GJB2
29 deafness, autosomal dominant 2b 9.8 TRIOBP GJB2 CABP2
30 branchiootorenal syndrome 9.8 OTOF GJB2
31 pendred syndrome 9.8 OTOF GJB2
32 deafness, autosomal recessive 2 9.8 PJVK OTOF GJB2
33 developmental and epileptic encephalopathy 16 9.8 LRTOMT GJB2
34 usher syndrome, type iia 9.8 OTOF GJB2
35 deafness, autosomal recessive 8 9.8 PJVK OTOF GJB2
36 auditory neuropathy, autosomal dominant, 1 9.8 PJVK OTOF GJB2
37 deafness, autosomal recessive 1a 9.8 PJVK OTOF GJB2
38 branchiootic syndrome 1 9.8 PJVK OTOF GJB2
39 deafness, autosomal recessive 16 9.8 TMIE OTOF GJB2
40 otosclerosis 9.8 PJVK OTOF GJB2
41 deafness, autosomal dominant 36 9.8 TMIE OTOF GJB2
42 usher syndrome, type id 9.7 TMIE OTOF GJB2
43 inner ear disease 9.7 OTOF GJB2
44 usher syndrome type 2 9.7 TMIE OTOF GJB2
45 deafness, autosomal recessive 63 9.7 TMIE PJVK LRTOMT
46 non-syndromic genetic deafness 9.7 TRIOBP OTOF GJB2
47 deafness, autosomal recessive 24 9.7 TRIOBP PJVK LRTOMT
48 waardenburg's syndrome 9.7 OTOF GJB2
49 deafness, autosomal recessive 21 9.6 PJVK LRTOMT GJB2
50 deafness, autosomal recessive 67 9.6 TMIE PJVK LRTOMT CABP2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 93:



Diseases related to Deafness, Autosomal Recessive 93

Symptoms & Phenotypes for Deafness, Autosomal Recessive 93

Human phenotypes related to Deafness, Autosomal Recessive 93:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
deafness, stable bilateral symmetric prelingual
moderate-to-severe in all frequencies, but slightly more pronounced in mid-frequencies
normal static compliance on tympanometry
normal middle ear pressures on tympanometry

Clinical features from OMIM®:

614899 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 93:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 CABP2 GJB2 LRTOMT OTOF PJVK TMIE
2 nervous system MP:0003631 9.23 CABP2 CABP4 GJB2 LRTOMT OTOF PJVK

Drugs & Therapeutics for Deafness, Autosomal Recessive 93

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 93

Genetic Tests for Deafness, Autosomal Recessive 93

Genetic tests related to Deafness, Autosomal Recessive 93:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 93 29 CABP2

Anatomical Context for Deafness, Autosomal Recessive 93

Publications for Deafness, Autosomal Recessive 93

Articles related to Deafness, Autosomal Recessive 93:

# Title Authors PMID Year
1
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. 6 57
22981119 2012
2
DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment. 61 57
21542834 2011
3
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss. 61
33269433 2020
4
Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations. 61
29318123 2018
5
Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells. 61
28183797 2017

Variations for Deafness, Autosomal Recessive 93

ClinVar genetic disease variations for Deafness, Autosomal Recessive 93:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CABP2 NM_016366.3(CABP2):c.232G>A (p.Glu78Lys) SNV Pathogenic 917515 GRCh37: 11:67289435-67289435
GRCh38: 11:67521964-67521964
2 CABP2 NM_016366.3(CABP2):c.637+1G>T SNV Pathogenic 597198 rs149712664 GRCh37: 11:67287263-67287263
GRCh38: 11:67519792-67519792

Expression for Deafness, Autosomal Recessive 93

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 93.

Pathways for Deafness, Autosomal Recessive 93

GO Terms for Deafness, Autosomal Recessive 93

Cellular components related to Deafness, Autosomal Recessive 93 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium base GO:0120044 8.62 TRIOBP PJVK

Biological processes related to Deafness, Autosomal Recessive 93 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.17 TRIOBP TMIE PJVK OTOF LRTOMT GJB2

Molecular functions related to Deafness, Autosomal Recessive 93 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel regulator activity GO:0005246 8.96 CABP4 CABP2
2 calcium ion binding GO:0005509 8.92 OTOF GJB2 CABP4 CABP2

Sources for Deafness, Autosomal Recessive 93

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