DFNB103
MCID: DFN281
MIFTS: 21

Deafness, Autosomal Recessive 103 (DFNB103)

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

Aliases & Classifications for Deafness, Autosomal Recessive 103

MalaCards integrated aliases for Deafness, Autosomal Recessive 103:

Name: Deafness, Autosomal Recessive 103 58 30 6 74
Dfnb103 58 12 76
Autosomal Recessive Nonsyndromic Deafness 103 12
Deafness, Autosomal Recessive, Type 103 41
Deafness, Autosomal Recessive, 103 76
Autosomal Recessive Deafness 103 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy (first year of life)
loss initially affects mid and high frequencies
progression to profound hearing loss affecting all frequencies
one consanguineous turkish family has been reported (last curated november 2014)


HPO:

33
deafness, autosomal recessive 103:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110464
OMIM 58 616042
MeSH 45 D006319
ICD10 34 H90.3
SNOMED-CT via HPO 70 22443004 258211005 60700002
UMLS 74 C4015050

Summaries for Deafness, Autosomal Recessive 103

UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 103: A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia.

MalaCards based summary : Deafness, Autosomal Recessive 103, is also known as dfnb103. An important gene associated with Deafness, Autosomal Recessive 103 is CLIC5 (Chloride Intracellular Channel 5). Related phenotypes are sensorineural hearing impairment and vestibular areflexia

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the CLIC5 gene on chromosome 6p21.

Description from OMIM: 616042

Related Diseases for Deafness, Autosomal Recessive 103

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 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 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
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Symptoms & Phenotypes for Deafness, Autosomal Recessive 103

Human phenotypes related to Deafness, Autosomal Recessive 103:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 vestibular areflexia 33 HP:0008568

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
vestibular dysfunction
vestibular areflexia
hearing loss, sensorineural
downsloping audiogram

Clinical features from OMIM:

616042

Drugs & Therapeutics for Deafness, Autosomal Recessive 103

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 103

Genetic Tests for Deafness, Autosomal Recessive 103

Genetic tests related to Deafness, Autosomal Recessive 103:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 103 30 CLIC5

Anatomical Context for Deafness, Autosomal Recessive 103

Publications for Deafness, Autosomal Recessive 103

Variations for Deafness, Autosomal Recessive 103

ClinVar genetic disease variations for Deafness, Autosomal Recessive 103:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLIC5 NM_016929.4(CLIC5): c.96T> A (p.Cys32Ter) single nucleotide variant Pathogenic rs606231308 GRCh38 Chromosome 6, 45955212: 45955212
2 CLIC5 NM_016929.4(CLIC5): c.96T> A (p.Cys32Ter) single nucleotide variant Pathogenic rs606231308 GRCh37 Chromosome 6, 45922949: 45922949
3 CLIC5 NM_001114086.1(CLIC5): c.237A> T (p.Arg79Ser) single nucleotide variant Likely benign rs41271277 GRCh38 Chromosome 6, 46080006: 46080006
4 CLIC5 NM_001114086.1(CLIC5): c.237A> T (p.Arg79Ser) single nucleotide variant Likely benign rs41271277 GRCh37 Chromosome 6, 46047743: 46047743
5 CLIC5 NM_016929.4(CLIC5): c.334A> G (p.Asn112Asp) single nucleotide variant Uncertain significance rs564438778 GRCh38 Chromosome 6, 45941619: 45941619
6 CLIC5 NM_016929.4(CLIC5): c.334A> G (p.Asn112Asp) single nucleotide variant Uncertain significance rs564438778 GRCh37 Chromosome 6, 45909356: 45909356

Expression for Deafness, Autosomal Recessive 103

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 103.

Pathways for Deafness, Autosomal Recessive 103

GO Terms for Deafness, Autosomal Recessive 103

Sources for Deafness, Autosomal Recessive 103

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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