DFNB18A
MCID: DFN247
MIFTS: 24

Deafness, Autosomal Recessive 18a (DFNB18A)

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

Aliases & Classifications for Deafness, Autosomal Recessive 18a

MalaCards integrated aliases for Deafness, Autosomal Recessive 18a:

Name: Deafness, Autosomal Recessive 18a 57 13
Deafness, Autosomal Recessive 18 57 29 6 73
Dfnb18a 57 12 75
Dfnb18 57 55
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 18 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 18 75
Autosomal Recessive Nonsyndromic Deafness 18a 12
Deafness, Autosomal Recessive 18; Dfnb18 57
Deafness, Autosomal Recessive, Type 18 40
Deafness, Autosomal Recessive, 18a 75
Autosomal Recessive Deafness 18a 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 18a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 602092
Disease Ontology 12 DOID:0110473
ICD10 33 H90.3
MedGen 42 C1865870
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 60700002 28835009
UMLS 73 C1865870

Summaries for Deafness, Autosomal Recessive 18a

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 18A: 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.

MalaCards based summary : Deafness, Autosomal Recessive 18a, also known as deafness, autosomal recessive 18, is related to usher syndrome, type ic and retinitis pigmentosa-deafness syndrome. An important gene associated with Deafness, Autosomal Recessive 18a is USH1C (USH1 Protein Network Component Harmonin). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and rod-cone dystrophy

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the USH1C gene on chromosome 11p15.

Description from OMIM: 602092

Related Diseases for Deafness, Autosomal Recessive 18a

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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 18a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ic 10.2
2 retinitis pigmentosa-deafness syndrome 10.2
3 usher syndrome 10.2
4 nonsyndromic deafness 10.0
5 autosomal recessive nonsyndromic deafness 10.0

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 18a:



Diseases related to Deafness, Autosomal Recessive 18a

Symptoms & Phenotypes for Deafness, Autosomal Recessive 18a

Symptoms via clinical synopsis from OMIM:

57
Ears:
nonsyndromic sensorineural hearing loss


Clinical features from OMIM:

602092

Human phenotypes related to Deafness, Autosomal Recessive 18a:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 rod-cone dystrophy 32 HP:0000510

Drugs & Therapeutics for Deafness, Autosomal Recessive 18a

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 18a

Genetic Tests for Deafness, Autosomal Recessive 18a

Genetic tests related to Deafness, Autosomal Recessive 18a:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 18 29 USH1C

Anatomical Context for Deafness, Autosomal Recessive 18a

MalaCards organs/tissues related to Deafness, Autosomal Recessive 18a:

41
Brain

Publications for Deafness, Autosomal Recessive 18a

Variations for Deafness, Autosomal Recessive 18a

ClinVar genetic disease variations for Deafness, Autosomal Recessive 18a:

6 (show top 50) (show all 226)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh37 Chromosome 11, 17552956: 17552956
2 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh38 Chromosome 11, 17531409: 17531409
3 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic/Likely pathogenic rs151045328 GRCh37 Chromosome 11, 17552978: 17552978
4 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic/Likely pathogenic rs151045328 GRCh38 Chromosome 11, 17531431: 17531431
5 USH1C NM_005709.3(USH1C): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs121908370 GRCh37 Chromosome 11, 17554815: 17554815
6 USH1C NM_005709.3(USH1C): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs121908370 GRCh38 Chromosome 11, 17533268: 17533268
7 USH1C USH1C, IVS12DS, G-C, +5 single nucleotide variant Pathogenic
8 USH1C NM_153676.3(USH1C): c.1823C> G (p.Pro608Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41282932 GRCh37 Chromosome 11, 17531093: 17531093
9 USH1C NM_153676.3(USH1C): c.1823C> G (p.Pro608Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41282932 GRCh38 Chromosome 11, 17509546: 17509546
10 USH1C NM_153676.3(USH1C): c.308G> A (p.Arg103His) single nucleotide variant Conflicting interpretations of pathogenicity rs397514500 GRCh37 Chromosome 11, 17552780: 17552780
11 USH1C NM_153676.3(USH1C): c.308G> A (p.Arg103His) single nucleotide variant Conflicting interpretations of pathogenicity rs397514500 GRCh38 Chromosome 11, 17531233: 17531233
12 USH1C NM_005709.3(USH1C): c.1284+7552A> G single nucleotide variant Likely benign rs397517872 GRCh37 Chromosome 11, 17531396: 17531396
13 USH1C NM_005709.3(USH1C): c.497-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs397517881 GRCh37 Chromosome 11, 17548591: 17548591
14 USH1C NM_005709.3(USH1C): c.1284+7552A> G single nucleotide variant Likely benign rs397517872 GRCh38 Chromosome 11, 17509849: 17509849
15 USH1C NM_153676.3(USH1C): c.2167C> T (p.Gln723Ter) single nucleotide variant Likely pathogenic rs146451547 GRCh37 Chromosome 11, 17526211: 17526211
16 USH1C NM_153676.3(USH1C): c.2167C> T (p.Gln723Ter) single nucleotide variant Likely pathogenic rs146451547 GRCh38 Chromosome 11, 17504664: 17504664
17 USH1C NM_005709.3(USH1C): c.1291C> T (p.Arg431Trp) single nucleotide variant Uncertain significance rs397517874 GRCh37 Chromosome 11, 17523521: 17523521
18 USH1C NM_005709.3(USH1C): c.1291C> T (p.Arg431Trp) single nucleotide variant Uncertain significance rs397517874 GRCh38 Chromosome 11, 17501974: 17501974
19 USH1C NM_005709.3(USH1C): c.1294A> G (p.Lys432Glu) single nucleotide variant Uncertain significance rs148168494 GRCh37 Chromosome 11, 17523518: 17523518
20 USH1C NM_005709.3(USH1C): c.1294A> G (p.Lys432Glu) single nucleotide variant Uncertain significance rs148168494 GRCh38 Chromosome 11, 17501971: 17501971
21 USH1C NM_005709.3(USH1C): c.1441G> A (p.Val481Ile) single nucleotide variant Uncertain significance rs397517875 GRCh37 Chromosome 11, 17522637: 17522637
22 USH1C NM_005709.3(USH1C): c.1441G> A (p.Val481Ile) single nucleotide variant Uncertain significance rs397517875 GRCh38 Chromosome 11, 17501090: 17501090
23 USH1C NM_005709.3(USH1C): c.1518C> T (p.Asn506=) single nucleotide variant Likely benign rs397517876 GRCh37 Chromosome 11, 17519781: 17519781
24 USH1C NM_005709.3(USH1C): c.1518C> T (p.Asn506=) single nucleotide variant Likely benign rs397517876 GRCh38 Chromosome 11, 17498234: 17498234
25 USH1C NM_005709.3(USH1C): c.1541C> A (p.Thr514Asn) single nucleotide variant Uncertain significance rs397517877 GRCh37 Chromosome 11, 17519758: 17519758
26 USH1C NM_005709.3(USH1C): c.1541C> A (p.Thr514Asn) single nucleotide variant Uncertain significance rs397517877 GRCh38 Chromosome 11, 17498211: 17498211
27 USH1C NM_005709.3(USH1C): c.1558G> A (p.Ala520Thr) single nucleotide variant Uncertain significance rs397517878 GRCh37 Chromosome 11, 17519741: 17519741
28 USH1C NM_005709.3(USH1C): c.1558G> A (p.Ala520Thr) single nucleotide variant Uncertain significance rs397517878 GRCh38 Chromosome 11, 17498194: 17498194
29 USH1C NM_005709.3(USH1C): c.1646+1145G> A single nucleotide variant Conflicting interpretations of pathogenicity rs56165709 GRCh37 Chromosome 11, 17517160: 17517160
30 USH1C NM_005709.3(USH1C): c.1646+1145G> A single nucleotide variant Conflicting interpretations of pathogenicity rs56165709 GRCh38 Chromosome 11, 17495613: 17495613
31 USH1C NM_005709.3(USH1C): c.1646+1151G> A single nucleotide variant Likely benign rs201533059 GRCh37 Chromosome 11, 17517154: 17517154
32 USH1C NM_005709.3(USH1C): c.1646+1151G> A single nucleotide variant Likely benign rs201533059 GRCh38 Chromosome 11, 17495607: 17495607
33 USH1C NM_005709.3(USH1C): c.497-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs397517881 GRCh38 Chromosome 11, 17527044: 17527044
34 USH1C NM_005709.3(USH1C): c.582C> T (p.Gly194=) single nucleotide variant Likely benign rs397517882 GRCh37 Chromosome 11, 17547986: 17547986
35 USH1C NM_005709.3(USH1C): c.582C> T (p.Gly194=) single nucleotide variant Likely benign rs397517882 GRCh38 Chromosome 11, 17526439: 17526439
36 USH1C NM_005709.3(USH1C): c.76C> T (p.Leu26Phe) single nucleotide variant Uncertain significance rs267602805 GRCh37 Chromosome 11, 17554830: 17554830
37 USH1C NM_005709.3(USH1C): c.76C> T (p.Leu26Phe) single nucleotide variant Uncertain significance rs267602805 GRCh38 Chromosome 11, 17533283: 17533283
38 USH1C NM_005709.3(USH1C): c.76C> T (p.Leu26Phe) single nucleotide variant Uncertain significance rs267602805 NCBI36 Chromosome 11, 17511406: 17511406
39 USH1C NM_005709.3(USH1C): c.569C> T (p.Ser190Leu) single nucleotide variant Uncertain significance rs200319849 GRCh37 Chromosome 11, 17548310: 17548310
40 USH1C NM_005709.3(USH1C): c.569C> T (p.Ser190Leu) single nucleotide variant Uncertain significance rs200319849 GRCh38 Chromosome 11, 17526763: 17526763
41 USH1C NM_005709.3(USH1C): c.1340A> G (p.Gln447Arg) single nucleotide variant Uncertain significance rs201600193 GRCh38 Chromosome 11, 17501522: 17501522
42 USH1C NM_005709.3(USH1C): c.1340A> G (p.Gln447Arg) single nucleotide variant Uncertain significance rs201600193 GRCh37 Chromosome 11, 17523069: 17523069
43 USH1C NM_005709.3(USH1C): c.1285-7515C> T single nucleotide variant Uncertain significance rs727505187 GRCh37 Chromosome 11, 17531042: 17531042
44 USH1C NM_005709.3(USH1C): c.1285-7515C> T single nucleotide variant Uncertain significance rs727505187 GRCh38 Chromosome 11, 17509495: 17509495
45 USH1C NM_005709.3(USH1C): c.1285-7567C> T single nucleotide variant Conflicting interpretations of pathogenicity rs727505247 GRCh37 Chromosome 11, 17531094: 17531094
46 USH1C NM_005709.3(USH1C): c.1285-7567C> T single nucleotide variant Conflicting interpretations of pathogenicity rs727505247 GRCh38 Chromosome 11, 17509547: 17509547
47 USH1C NM_005709.3(USH1C): c.1284+1133C> T single nucleotide variant Likely benign rs377439949 GRCh37 Chromosome 11, 17537815: 17537815
48 USH1C NM_005709.3(USH1C): c.1284+1133C> T single nucleotide variant Likely benign rs377439949 GRCh38 Chromosome 11, 17516268: 17516268
49 USH1C NM_005709.3(USH1C): c.629A> C (p.Lys210Thr) single nucleotide variant Uncertain significance rs372789934 GRCh37 Chromosome 11, 17547939: 17547939
50 USH1C NM_005709.3(USH1C): c.629A> C (p.Lys210Thr) single nucleotide variant Uncertain significance rs372789934 GRCh38 Chromosome 11, 17526392: 17526392

Expression for Deafness, Autosomal Recessive 18a

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 18a.

Pathways for Deafness, Autosomal Recessive 18a

GO Terms for Deafness, Autosomal Recessive 18a

Sources for Deafness, Autosomal Recessive 18a

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