DFNB48
MCID: DFN258
MIFTS: 31

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 57 29 13 6 72
Dfnb48 57 12 74
Autosomal Recessive Nonsyndromic Deafness 48 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 48 74
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 48 74
Deafness, Autosomal Recessive, Type 48 40
Deafness, Autosomal Recessive, 48 74
Autosomal Recessive Deafness 48 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
hearing loss affects all frequencies
prelingual onset


HPO:

32
deafness, autosomal recessive 48:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110505
MeSH 44 D006319
ICD10 33 H90.3
MedGen 42 C1836199
UMLS 72 C1836199

Summaries for Deafness, Autosomal Recessive 48

UniProtKB/Swiss-Prot : 74 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 usher syndrome, type ij and usher syndrome, type i. 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 : 57 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 Familial Deafness

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ij 28.9 CIB4 CIB2 CIB1
2 usher syndrome, type i 28.8 CIB4 CIB2 CIB1
3 branchiootic syndrome 1 10.4
4 retinitis pigmentosa-deafness syndrome 10.3
5 usher syndrome 10.3
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
7 nonsyndromic deafness 10.3
8 yemenite deaf-blind hypopigmentation syndrome 10.1
9 usher syndrome, type ih 10.1
10 bardet-biedl syndrome 4 10.1
11 sensorineural hearing loss 10.1
12 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.1
13 fundus dystrophy 9.4 NR2E3 BBS4

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:

32
# Description HPO Frequency HPO Source Accession
1 vestibular dysfunction 32 HP:0001751
2 profound sensorineural hearing impairment 32 HP:0011476

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, congenital, profound (250-8,000 hz)

Clinical features from OMIM:

609439

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:

41
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. 38 8 71
23023331 2012
2
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. 38 8
18505454 2009
3
DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. 38 8
15711797 2005
4
Variants in CIB2 cause DFNB48 and not USH1J. 38
29112224 2018
5
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. 38
29084757 2017
6
Advances in genetic hearing loss: CIB2 gene. 38
27771768 2017
7
Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice. 38
29255404 2017
8
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. 38
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. 38
23331261 2013
10
Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. 38
20236115 2010

Variations for Deafness, Autosomal Recessive 48

ClinVar genetic disease variations for Deafness, Autosomal Recessive 48:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CIB2 NM_006383.4(CIB2): c.272T> C (p.Phe91Ser) single nucleotide variant Pathogenic rs397515411 15:78401651-78401651 15:78109309-78109309
2 CIB2 NM_006383.4(CIB2): c.297C> G (p.Cys99Trp) single nucleotide variant Pathogenic rs370965183 15:78401626-78401626 15:78109284-78109284
3 CIB2 NM_006383.4(CIB2): c.368T> C (p.Ile123Thr) single nucleotide variant Pathogenic rs397515412 15:78398255-78398255 15:78105913-78105913
4 CIB2 NM_006383.4(CIB2): c.223G> A (p.Val75Met) single nucleotide variant Uncertain significance 15:78401700-78401700 15:78109358-78109358

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

74
# 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 sarcolemma GO:0042383 9.16 CIB2 CIB1
2 photoreceptor outer segment GO:0001750 8.96 CIB2 BBS4
3 photoreceptor inner segment GO:0001917 8.62 CIB2 BBS4

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

# Name GO ID Score Top Affiliating Genes
1 spermatid development GO:0007286 9.16 CIB1 BBS4
2 photoreceptor cell maintenance GO:0045494 8.96 CIB2 BBS4
3 visual perception GO:0007601 8.8 NR2E3 MYO9A BBS4

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.8 CIB4 CIB2 CIB1

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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