DFNB48
MCID: DFN258
MIFTS: 33

Deafness, Autosomal Recessive 48 (DFNB48)

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

Aliases & Classifications for Deafness, Autosomal Recessive 48

MalaCards integrated aliases for Deafness, Autosomal Recessive 48:

Name: Deafness, Autosomal Recessive 48 56 29 13 6 71
Dfnb48 56 12 73
Autosomal Recessive Nonsyndromic Deafness 48 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 48 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 48 73
Deafness, Autosomal Recessive, Type 48 39
Deafness, Autosomal Recessive, 48 73
Autosomal Recessive Deafness 48 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
hearing loss affects all frequencies
prelingual onset


HPO:

31
deafness, autosomal recessive 48:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110505
OMIM 56 609439
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1836199
SNOMED-CT via HPO 68 258211005
UMLS 71 C1836199

Summaries for Deafness, Autosomal Recessive 48

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 48: 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. DFNB48 patients have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies.

MalaCards based summary : Deafness, Autosomal Recessive 48, also known as dfnb48, is related to retinitis pigmentosa-deafness syndrome and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 48 is CIB2 (Calcium And Integrin Binding Family Member 2). Affiliated tissues include brain, and related phenotypes are vestibular dysfunction and profound sensorineural hearing impairment

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the CIB2 gene on chromosome 15q25.

OMIM : 56 DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by Riazuddin et al., 2012). (609439)

Related Diseases for Deafness, Autosomal Recessive 48

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
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 32
Autosomal Recessive Nonsyndromic Deafness 36 Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 48 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 30.2 WHRN MYO7A
2 branchiootic syndrome 1 29.6 WHRN TMC1 MYO7A
3 usher syndrome, type ih 29.6 WHRN MYO7A CIB2
4 usher syndrome, type ij 29.4 WHRN MYO7A CIB4 CIB2
5 usher syndrome 29.2 WHRN TMC1 MYO7A CIB2
6 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.8 WHRN TMC1 MYO7A CIB2
7 sensorineural hearing loss 28.7 WHRN TMC1 MYO7A CIB2
8 nonsyndromic deafness 28.5 WHRN TMC2 TMC1 MYO7A CIB2
9 usher syndrome, type i 27.3 WHRN TMC2 TMC1 MYO7A CIB4 CIB3
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
11 deafness, autosomal recessive 31 10.1 WHRN CIB2
12 yemenite deaf-blind hypopigmentation syndrome 10.1
13 bardet-biedl syndrome 4 10.1
14 baraitser-winter syndrome 10.0 WHRN CIB2
15 deafness, autosomal recessive 79 9.9 WHRN TMC1
16 deafness, autosomal dominant 48 9.8 MYO7A CIB2
17 usher syndrome, type iiib 9.7 WHRN MYO7A
18 deafness, autosomal recessive 30 9.7 WHRN MYO7A
19 deafness, autosomal dominant 11 9.7 WHRN MYO7A
20 drug-induced hearing loss 9.7 TMC2 MYO7A
21 usher syndrome, type iid 9.6 WHRN MYO7A CIB2
22 usher syndrome, type if 9.6 WHRN MYO7A CIB2
23 usher syndrome, type iic 9.6 WHRN MYO7A CIB2
24 deafness, autosomal recessive 63 9.6 TMC1 MYO7A
25 usher syndrome, type iiia 9.5 WHRN MYO7A CIB2
26 deafness, autosomal dominant 36 9.5 TMC3 TMC2 TMC1
27 deafness, autosomal recessive 9 9.5 TMC1 MYO7A
28 deafness, autosomal recessive 7 9.5 TMC3 TMC2 TMC1
29 epidermodysplasia verruciformis 1 9.5 TMC3 TMC2 TMC1
30 hodgkin's lymphoma, nodular sclerosis 9.4 TMC1 MYO7A
31 autosomal recessive nonsyndromic deafness 3 9.4 WHRN TMC1 MYO7A
32 deafness, autosomal recessive 23 9.4 WHRN TMC1 MYO7A
33 deafness, autosomal recessive 12 9.3 WHRN TMC1 MYO7A
34 rare genetic deafness 9.3 WHRN TMC1 MYO7A
35 autosomal dominant non-syndromic sensorineural deafness type dfna 9.3 TMC1 MYO7A
36 fundus dystrophy 9.3 WHRN MYO7A CIB2
37 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.2 TMC1 MYO7A
38 deafness, autosomal recessive 2 9.1 WHRN TMC1 MYO7A CIB2
39 usher syndrome, type id 9.1 WHRN TMC1 MYO7A CIB2
40 usher syndrome type 2 9.1 WHRN TMC1 MYO7A CIB2
41 usher syndrome, type ic 9.0 WHRN TMC2 TMC1 MYO7A
42 autosomal recessive nonsyndromic deafness 9.0 WHRN TMC2 TMC1 MYO7A
43 auditory system disease 8.7 WHRN TMC2 TMC1 MYO7A CIB2
44 autosomal dominant nonsyndromic deafness 8.3 WHRN TMC3 TMC2 TMC1 MYO7A CIB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 48:



Diseases related to Deafness, Autosomal Recessive 48

Symptoms & Phenotypes for Deafness, Autosomal Recessive 48

Human phenotypes related to Deafness, Autosomal Recessive 48:

31
# Description HPO Frequency HPO Source Accession
1 vestibular dysfunction 31 HP:0001751
2 profound sensorineural hearing impairment 31 HP:0011476

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, congenital, profound (250-8,000 hz)

Clinical features from OMIM:

609439

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 48:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 CIB2 CIB3 MYO7A TMC1 TMC2 WHRN
2 hearing/vestibular/ear MP:0005377 9.02 CIB2 MYO7A TMC1 TMC2 WHRN

Drugs & Therapeutics for Deafness, Autosomal Recessive 48

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 48

Genetic Tests for Deafness, Autosomal Recessive 48

Genetic tests related to Deafness, Autosomal Recessive 48:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 48 29 CIB2

Anatomical Context for Deafness, Autosomal Recessive 48

MalaCards organs/tissues related to Deafness, Autosomal Recessive 48:

40
Brain

Publications for Deafness, Autosomal Recessive 48

Articles related to Deafness, Autosomal Recessive 48:

# Title Authors PMID Year
1
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. 61 56 6
23023331 2012
2
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. 61 56
18505454 2009
3
DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. 61 56
15711797 2005
4
Variants in CIB2 cause DFNB48 and not USH1J. 61
29112224 2018
5
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. 61
29084757 2017
6
Advances in genetic hearing loss: CIB2 gene. 61
27771768 2017
7
Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice. 61
29255404 2017
8
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. 61
26173970 2016
9
Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48. 61
23331261 2013
10
Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. 61
20236115 2010

Variations for Deafness, Autosomal Recessive 48

ClinVar genetic disease variations for Deafness, Autosomal Recessive 48:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CIB2 NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)SNV Pathogenic 39685 rs397515411 15:78401651-78401651 15:78109309-78109309
2 CIB2 NM_006383.4(CIB2):c.297C>G (p.Cys99Trp)SNV Pathogenic 39686 rs370965183 15:78401626-78401626 15:78109284-78109284
3 CIB2 NM_006383.4(CIB2):c.368T>C (p.Ile123Thr)SNV Pathogenic 39687 rs397515412 15:78398255-78398255 15:78105913-78105913
4 CIB2 NM_006383.4(CIB2):c.223G>A (p.Val75Met)SNV Uncertain significance 617936 rs758743502 15:78401700-78401700 15:78109358-78109358

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 48:

73
# Symbol AA change Variation ID SNP ID
1 CIB2 p.Phe91Ser VAR_069087 rs397515411
2 CIB2 p.Cys99Trp VAR_069088 rs370965183
3 CIB2 p.Ile123Thr VAR_069089 rs397515412
4 CIB2 p.Arg186Trp VAR_077559 rs370359511

Expression for Deafness, Autosomal Recessive 48

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 48.

Pathways for Deafness, Autosomal Recessive 48

GO Terms for Deafness, Autosomal Recessive 48

Cellular components related to Deafness, Autosomal Recessive 48 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.33 WHRN MYO7A CIB2
2 photoreceptor outer segment GO:0001750 9.32 MYO7A CIB2
3 photoreceptor connecting cilium GO:0032391 9.26 WHRN MYO7A
4 stereocilium GO:0032420 9.13 WHRN MYO7A CIB2
5 stereocilium tip GO:0032426 8.8 WHRN TMC2 TMC1

Biological processes related to Deafness, Autosomal Recessive 48 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.54 WHRN TMC1 MYO7A
2 inner ear receptor cell stereocilium organization GO:0060122 9.4 WHRN MYO7A
3 auditory receptor cell stereocilium organization GO:0060088 9.32 WHRN MYO7A
4 sensory perception of light stimulus GO:0050953 9.26 WHRN MYO7A
5 regulation of calcium ion transmembrane transport GO:1903169 9.16 TMC2 TMC1
6 vestibular reflex GO:0060005 8.96 TMC2 TMC1
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.8 WHRN TMC2 TMC1

Molecular functions related to Deafness, Autosomal Recessive 48 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 magnesium ion binding GO:0000287 9.33 CIB4 CIB3 CIB2
2 voltage-gated calcium channel activity GO:0005245 9.26 TMC2 TMC1
3 ion channel activity GO:0005216 9.13 TMC3 TMC2 TMC1
4 mechanosensitive ion channel activity GO:0008381 8.8 TMC3 TMC2 TMC1

Sources for Deafness, Autosomal Recessive 48

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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