MCID: DFN258
MIFTS: 29

Deafness, Autosomal Recessive 48

Categories: Genetic diseases, Ear diseases, Neuronal diseases, Fetal diseases, Blood diseases, Rare diseases, Cardiovascular 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 73
Dfnb48 57 12 75
Autosomal Recessive Nonsyndromic Deafness 48 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 48 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 48 75
Deafness, Autosomal Recessive, Type 48 40
Deafness, Autosomal Recessive, 48 75
Autosomal Recessive Deafness 48 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
hearing loss affects all frequencies


HPO:

32
deafness, autosomal recessive 48:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609439
Disease Ontology 12 DOID:0110505
ICD10 33 H90.3
MedGen 42 C1836199
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005
UMLS 73 C1836199

Summaries for Deafness, Autosomal Recessive 48

UniProtKB/Swiss-Prot : 75 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. 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 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 48 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ij 28.2 CIB1 CIB2 CIB4
2 usher syndrome 10.0
3 retinitis pigmentosa-deafness syndrome 10.0
4 nonsyndromic deafness 9.9
5 usher syndrome, type i 8.5 CIB1 CIB2 CIB4

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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

609439

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

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 48 according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.55 CIB2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.55 BBS4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.55 BBS4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.55 CIB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.55 BBS4 CIB2 CIB4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.55 BBS4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.55 CIB4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.55 CIB4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.55 BBS4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.55 BBS4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.55 CIB2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.55 BBS4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.55 BBS4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.55 CIB4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.55 BBS4

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

Variations for Deafness, Autosomal Recessive 48

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

75
# 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

ClinVar genetic disease variations for Deafness, Autosomal Recessive 48:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CIB2 NM_006383.3(CIB2): c.272T> C (p.Phe91Ser) single nucleotide variant Pathogenic rs397515411 GRCh37 Chromosome 15, 78401651: 78401651
2 CIB2 NM_006383.3(CIB2): c.272T> C (p.Phe91Ser) single nucleotide variant Pathogenic rs397515411 GRCh38 Chromosome 15, 78109309: 78109309
3 CIB2 NM_006383.3(CIB2): c.297C> G (p.Cys99Trp) single nucleotide variant Pathogenic rs370965183 GRCh37 Chromosome 15, 78401626: 78401626
4 CIB2 NM_006383.3(CIB2): c.297C> G (p.Cys99Trp) single nucleotide variant Pathogenic rs370965183 GRCh38 Chromosome 15, 78109284: 78109284
5 CIB2 NM_006383.3(CIB2): c.368T> C (p.Ile123Thr) single nucleotide variant Pathogenic rs397515412 GRCh37 Chromosome 15, 78398255: 78398255
6 CIB2 NM_006383.3(CIB2): c.368T> C (p.Ile123Thr) single nucleotide variant Pathogenic rs397515412 GRCh38 Chromosome 15, 78105913: 78105913

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 cell projection GO:0042995 9.43 BBS4 CIB1 CIB2
2 sarcolemma GO:0042383 9.16 CIB1 CIB2
3 photoreceptor outer segment GO:0001750 8.96 BBS4 CIB2
4 photoreceptor inner segment GO:0001917 8.62 BBS4 CIB2

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.16 BBS4 MYO9A
2 spermatid development GO:0007286 8.96 BBS4 CIB1
3 photoreceptor cell maintenance GO:0045494 8.62 BBS4 CIB2

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 9.16 CIB2 CIB4
2 calcium ion binding GO:0005509 9.13 CIB1 CIB2 CIB4
3 microtubule motor activity GO:0003777 8.62 BBS4 MYO9A

Sources for Deafness, Autosomal Recessive 48

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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