DFNB18A
MCID: DFN247
MIFTS: 39

Deafness, Autosomal Recessive 18a (DFNB18A)

Categories: 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 70
Dfnb18a 57 12 72
Autosomal Recessive Nonsyndromic Deafness 18a 12 15
Dfnb18 57 54
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 18 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 18 72
Deafness, Autosomal Recessive 18; Dfnb18 57
Deafness, Autosomal Recessive, Type 18 39
Deafness, Autosomal Recessive, 18a 72
Autosomal Recessive Deafness 18a 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
deafness, autosomal recessive 18a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110473
OMIM® 57 602092
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1865870
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1865870

Summaries for Deafness, Autosomal Recessive 18a

UniProtKB/Swiss-Prot : 72 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 nonsyndromic deafness and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 18a is USH1C (USH1 Protein Network Component Harmonin). Affiliated tissues include retina, and related phenotypes are sensorineural hearing impairment and behavior/neurological

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.

More information from OMIM: 602092 PS220290

Related Diseases for Deafness, Autosomal Recessive 18a

Diseases in the Rare Deafness family:

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 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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 Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 30.0 WFS1 PCDH15
2 branchiootic syndrome 1 29.8 MYO7A CDH23
3 usher syndrome, type ic 29.6 USH1C PCDH15 MYO7A CDH23
4 retinitis pigmentosa-deafness syndrome 29.5 USH1C PCDH15 MYO7A CDH23
5 autosomal recessive nonsyndromic deafness 29.1 PCDH15 MYO7A MYO15A CDH23
6 usher syndrome, type i 28.8 USH1C PCDH15 MYO7A MYO15A CDH23
7 usher syndrome 28.5 WFS1 USH1C PCDH15 MYO7A MYO15A CDH23
8 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.4 USH1C TBC1D24 PCDH15 MYO7A MYO15A CDH23
9 autosomal recessive nonsyndromic deafness 36 10.1 USH1C PCDH15
10 rare deafness 10.1 PCDH15 CDH23
11 usher syndrome, type ik 10.0 PCDH15 CDH23
12 deafness, autosomal dominant 65 10.0 TBC1D24 PCDH15
13 y-linked monogenic disease 10.0 PCDH15 CDH23
14 deafness, autosomal recessive 3 10.0 MYO7A MYO15A
15 dfnb1 9.9 PCDH15 MYO7A
16 deafness, autosomal recessive 16 9.9 MYO15A CDH23
17 deafness, autosomal dominant 48 9.9 MYO7A MYO15A
18 deafness, autosomal dominant 17 9.9 MYO7A MYO15A
19 deafness, autosomal recessive 37 9.9 MYO7A MYO15A
20 deafness, autosomal dominant 22 9.8 MYO7A MYO15A
21 stickler syndrome 9.8 USH1C PCDH15 CDH23
22 deafness, autosomal recessive 86 9.8 TBC1D24 PCDH15 CDH23
23 deafness, autosomal recessive 63 9.8 MYO7A MYO15A
24 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 9.8 TBC1D24 PCDH15 CDH23
25 usher syndrome, type iiib 9.8 USH1C PCDH15 MYO7A
26 deafness, autosomal dominant 36 9.8 PCDH15 MYO15A CDH23
27 deafness, autosomal recessive 30 9.7 PCDH15 MYO7A MYO15A
28 deafness, autosomal recessive 83 9.7 MYO7A MYO15A CDH23
29 autosomal recessive nonsyndromic deafness 3 9.7 MYO7A MYO15A CDH23
30 deafness, autosomal recessive 7 9.7 MYO7A MYO15A CDH23
31 deafness, autosomal recessive 9 9.7 MYO7A MYO15A CDH23
32 non-syndromic genetic deafness 9.6 MYO7A MYO15A CDH23
33 pendred syndrome 9.6 MYO7A MYO15A CDH23
34 deafness, autosomal dominant 9 9.6 WFS1 MYO7A
35 usher syndrome, type ih 9.6 USH1C PCDH15 MYO7A CDH23
36 usher syndrome, type ij 9.6 USH1C PCDH15 MYO7A CDH23
37 usher syndrome, type ig 9.6 USH1C PCDH15 MYO7A CDH23
38 digenic disease 9.6 USH1C PCDH15 MYO7A CDH23
39 usher syndrome, type iia 9.5 USH1C PCDH15 MYO7A CDH23
40 eye degenerative disease 9.5 USH1C PCDH15 MYO7A CDH23
41 retinal disease 9.5 USH1C PCDH15 MYO7A CDH23
42 deafness, autosomal dominant 1, with or without thrombocytopenia 9.5 WFS1 MYO7A MYO15A
43 bardet-biedl syndrome 9.5 USH1C PCDH15 MYO7A CDH23
44 vestibular disease 9.5 PCDH15 MYO7A MYO15A CDH23
45 retinal degeneration 9.4 USH1C MYO7A CDH23
46 fundus dystrophy 9.4 USH1C PCDH15 MYO7A CDH23
47 cone-rod dystrophy 2 9.3 USH1C PCDH15 MYO7A CDH23
48 deafness, autosomal recessive 9.3 USH1C PCDH15 MYO7A MYO15A CDH23
49 usher syndrome, type iid 9.3 USH1C PCDH15 MYO7A MYO15A CDH23
50 deafness, autosomal dominant 11 9.3 USH1C PCDH15 MYO7A MYO15A CDH23

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

Human phenotypes related to Deafness, Autosomal Recessive 18a:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural (prelingual, profound)

Clinical features from OMIM®:

602092 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 18a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 CDH23 MYO15A MYO7A PCDH15 TBC1D24 USH1C
2 growth/size/body region MP:0005378 9.8 CDH23 MYO15A MYO7A PCDH15 TBC1D24 USH1C
3 hearing/vestibular/ear MP:0005377 9.63 CDH23 MYO15A MYO7A PCDH15 TBC1D24 USH1C
4 nervous system MP:0003631 9.43 CDH23 MYO15A MYO7A PCDH15 TBC1D24 USH1C
5 vision/eye MP:0005391 9.02 CDH23 MYO15A MYO7A PCDH15 USH1C

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:

40
Retina

Publications for Deafness, Autosomal Recessive 18a

Articles related to Deafness, Autosomal Recessive 18a:

(show all 31)
# Title Authors PMID Year
1
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. 61 6 57
12136232 2002
2
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. 61 57 6
12107438 2002
3
Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. 57 54 61
14519688 2003
4
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. 57 61 54
10973247 2000
5
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 6 61
10973248 2000
6
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. 57 61
9653658 1998
7
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 6
28041643 2017
8
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 6
27460420 2016
9
Usher syndrome in Denmark: mutation spectrum and some clinical observations. 6
27957503 2016
10
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 6
25356976 2015
11
NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries. 6
25560255 2015
12
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
13
Targeted exon sequencing in Usher syndrome type I. 6
25468891 2014
14
Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. 6
24416283 2014
15
Experience of targeted Usher exome sequencing as a clinical test. 6
24498627 2014
16
Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. 6
23251578 2012
17
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 6
22135276 2012
18
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. 6
21487335 2011
19
Novel mutations in the USH1C gene in Usher syndrome patients. 6
21203349 2010
20
Beneficial read-through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina. 6
20671281 2010
21
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. 6
17407589 2007
22
The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion. 6
15578223 2005
23
USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele. 6
12630964 2003
24
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. 6
11139240 2001
25
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. 54 61
19028668 2009
26
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK. 54 61
12702164 2003
27
[A case report of congenital sensorineural deafness caused by novel mutation in Usher1C and related literature analysis]. 61
32842192 2020
28
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. 61
23122587 2012
29
Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes. 61
11178734 2000
30
DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness. 61
10571079 1999
31
Mapping of the otogelin gene (OTGN) to mouse chromosome 7 and human chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18. 61
10337628 1999

Variations for Deafness, Autosomal Recessive 18a

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

6 (show top 50) (show all 124)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 USH1C NM_153676.4(USH1C):c.1019+5G>C SNV Pathogenic 5147 rs1592002789 GRCh37: 11:17544326-17544326
GRCh38: 11:17522779-17522779
2 USH1C NM_153676.4(USH1C):c.2491-1G>T SNV Pathogenic 627489 rs1565017125 GRCh37: 11:17518361-17518361
GRCh38: 11:17496814-17496814
3 USH1C NM_153676.4(USH1C):c.2380+1G>C SNV Pathogenic 403598 rs1060499916 GRCh37: 11:17522597-17522597
GRCh38: 11:17501050-17501050
4 USH1C NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) SNV Pathogenic 5148 rs41282932 GRCh37: 11:17531093-17531093
GRCh38: 11:17509546-17509546
5 USH1C NM_153676.4(USH1C):c.1211-1175del Deletion Pathogenic 555064 rs1207247951 GRCh37: 11:17539012-17539012
GRCh38: 11:17517465-17517465
6 USH1C NM_153676.4(USH1C):c.216G>A (p.Val72=) SNV Pathogenic 5143 rs151045328 GRCh37: 11:17552978-17552978
GRCh38: 11:17531431-17531431
7 USH1C NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) SNV Pathogenic 5146 rs121908370 GRCh37: 11:17554815-17554815
GRCh38: 11:17533268-17533268
8 USH1C NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) SNV Pathogenic 5146 rs121908370 GRCh37: 11:17554815-17554815
GRCh38: 11:17533268-17533268
9 USH1C NM_153676.4(USH1C):c.496+1G>T SNV Pathogenic 551814 rs138138689 GRCh37: 11:17548769-17548769
GRCh38: 11:17527222-17527222
10 USH1C NM_153676.4(USH1C):c.496+1G>A SNV Pathogenic 371732 rs138138689 GRCh37: 11:17548769-17548769
GRCh38: 11:17527222-17527222
11 USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) Duplication Pathogenic 5141 rs397515359 GRCh37: 11:17552955-17552956
GRCh38: 11:17531408-17531409
12 USH1C NM_153676.4(USH1C):c.586C>T (p.Arg196Ter) SNV Pathogenic 1031570 GRCh37: 11:17547982-17547982
GRCh38: 11:17526435-17526435
13 USH1C NM_153676.4(USH1C):c.841_848del (p.Ser281fs) Deletion Likely pathogenic 424972 rs1064797153 GRCh37: 11:17544786-17544793
GRCh38: 11:17523239-17523246
14 USH1C NM_153676.4(USH1C):c.2546+1G>T SNV Likely pathogenic 549987 rs1554953350 GRCh37: 11:17518304-17518304
GRCh38: 11:17496757-17496757
15 USH1C NM_153676.4(USH1C):c.216G>A (p.Val72=) SNV Likely pathogenic 5143 rs151045328 GRCh37: 11:17552978-17552978
GRCh38: 11:17531431-17531431
16 USH1C NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) SNV Likely pathogenic 371731 rs377145777 GRCh37: 11:17548803-17548803
GRCh38: 11:17527256-17527256
17 USH1C NM_153676.4(USH1C):c.748_759+5del Deletion Likely pathogenic 437936 rs1355262412 GRCh37: 11:17545993-17546009
GRCh38: 11:17524446-17524462
18 USH1C NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) SNV Likely pathogenic 500413 rs762551629 GRCh37: 11:17542939-17542939
GRCh38: 11:17521392-17521392
19 USH1C NM_153676.4(USH1C):c.308G>A (p.Arg103His) SNV Likely pathogenic 39427 rs397514500 GRCh37: 11:17552780-17552780
GRCh38: 11:17531233-17531233
20 USH1C NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) SNV Likely pathogenic 599072 rs1565058763 GRCh37: 11:17548821-17548821
GRCh38: 11:17527274-17527274
21 USH1C NM_153676.4(USH1C):c.1020-2A>C SNV Likely pathogenic 551676 rs147956944 GRCh37: 11:17542960-17542960
GRCh38: 11:17521413-17521413
22 USH1C NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer) Microsatellite Likely pathogenic 627490 rs1591961566 GRCh37: 11:17522625-17522626
GRCh38: 11:17501078-17501079
23 USH1C NM_153676.4(USH1C):c.2381-2A>G SNV Likely pathogenic 557217 rs1465352266 GRCh37: 11:17519820-17519820
GRCh38: 11:17498273-17498273
24 USH1C NM_153676.4(USH1C):c.2490+1G>T SNV Likely pathogenic 557880 rs1554953746 GRCh37: 11:17519708-17519708
GRCh38: 11:17498161-17498161
25 USH1C NM_153676.4(USH1C):c.819+1G>A SNV Likely pathogenic 558029 rs1554961152 GRCh37: 11:17544965-17544965
GRCh38: 11:17523418-17523418
26 USH1C NM_153676.4(USH1C):c.1146dup (p.Gln383fs) Duplication Likely pathogenic 555436 rs1554960388 GRCh37: 11:17542480-17542481
GRCh38: 11:17520933-17520934
27 USH1C NM_153676.4(USH1C):c.248+1G>A SNV Likely pathogenic 555472 rs1482487617 GRCh37: 11:17552945-17552945
GRCh38: 11:17531398-17531398
28 USH1C NM_153676.4(USH1C):c.104+1G>A SNV Likely pathogenic 556011 rs1287021691 GRCh37: 11:17554801-17554801
GRCh38: 11:17533254-17533254
29 USH1C NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) SNV Likely pathogenic 556381 rs1223763703 GRCh37: 11:17547896-17547896
GRCh38: 11:17526349-17526349
30 USH1C NM_153676.4(USH1C):c.2490+2T>C SNV Likely pathogenic 556802 rs1554953745 GRCh37: 11:17519707-17519707
GRCh38: 11:17498160-17498160
31 USH1C NM_153676.4(USH1C):c.2227-1G>T SNV Likely pathogenic 551392 rs778110397 GRCh37: 11:17523083-17523083
GRCh38: 11:17501536-17501536
32 USH1C NM_153676.4(USH1C):c.579+1G>C SNV Likely pathogenic 551520 rs1283092935 GRCh37: 11:17548299-17548299
GRCh38: 11:17526752-17526752
33 USH1C NM_153676.4(USH1C):c.2281-1G>A SNV Likely pathogenic 552730 rs1554954574 GRCh37: 11:17522698-17522698
GRCh38: 11:17501151-17501151
34 USH1C NM_153676.4(USH1C):c.2281-2A>G SNV Likely pathogenic 553146 rs921755529 GRCh37: 11:17522699-17522699
GRCh38: 11:17501152-17501152
35 USH1C NM_153676.4(USH1C):c.674+1G>A SNV Likely pathogenic 553492 rs775496999 GRCh37: 11:17547893-17547893
GRCh38: 11:17526346-17526346
36 USH1C NM_153676.4(USH1C):c.760-1G>T SNV Likely pathogenic 553618 rs1187887456 GRCh37: 11:17545026-17545026
GRCh38: 11:17523479-17523479
37 USH1C NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) Deletion Likely pathogenic 553726 rs1554960390 GRCh37: 11:17542488-17542488
GRCh38: 11:17520941-17520941
38 USH1C NM_153676.4(USH1C):c.877-1G>A SNV Likely pathogenic 553769 rs771279169 GRCh37: 11:17544474-17544474
GRCh38: 11:17522927-17522927
39 USH1C NM_153676.4(USH1C):c.2280+2T>C SNV Likely pathogenic 554114 rs1554954681 GRCh37: 11:17523027-17523027
GRCh38: 11:17501480-17501480
40 USH1C NM_153676.4(USH1C):c.2185-2A>G SNV Likely pathogenic 554334 rs1358056232 GRCh37: 11:17523529-17523529
GRCh38: 11:17501982-17501982
41 USH1C NM_153676.4(USH1C):c.674+1del Deletion Likely pathogenic 554349 rs1554961872 GRCh37: 11:17547893-17547893
GRCh38: 11:17526346-17526346
42 USH1C NM_153676.4(USH1C):c.1A>G (p.Met1Val) SNV Likely pathogenic 554131 rs1554965967 GRCh37: 11:17565854-17565854
GRCh38: 11:17544307-17544307
43 USH1C NM_153676.4(USH1C):c.674+2T>G SNV Likely pathogenic 554188 rs1298596518 GRCh37: 11:17547892-17547892
GRCh38: 11:17526345-17526345
44 USH1C NM_153676.4(USH1C):c.2326dup (p.Ile776fs) Duplication Likely pathogenic 555137 rs758555088 GRCh37: 11:17522651-17522652
GRCh38: 11:17501104-17501105
45 USH1C NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) SNV Conflicting interpretations of pathogenicity 47990 rs146451547 GRCh37: 11:17526211-17526211
GRCh38: 11:17504664-17504664
46 USH1C NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) SNV Uncertain significance 554093 rs1317951509 GRCh37: 11:17552777-17552777
GRCh38: 11:17531230-17531230
47 USH1C NM_153676.4(USH1C):c.440A>G (p.His147Arg) SNV Uncertain significance 437935 rs777591673 GRCh37: 11:17548826-17548826
GRCh38: 11:17527279-17527279
48 USH1C NM_153676.4(USH1C):c.308G>A (p.Arg103His) SNV Uncertain significance 39427 rs397514500 GRCh37: 11:17552780-17552780
GRCh38: 11:17531233-17531233
49 USH1C NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del) Microsatellite Uncertain significance 554232 rs1474458620 GRCh37: 11:17515913-17515915
GRCh38: 11:17494366-17494368
50 USH1C NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) SNV Uncertain significance 91968 rs200319849 GRCh37: 11:17548310-17548310
GRCh38: 11:17526763-17526763

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

Cellular components related to Deafness, Autosomal Recessive 18a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.46 USH1C TBC1D24 PCDH15 MYO7A
2 microvillus GO:0005902 9.4 USH1C MYO7A
3 photoreceptor inner segment GO:0001917 9.37 USH1C MYO7A
4 myosin complex GO:0016459 9.32 MYO7A MYO15A
5 photoreceptor connecting cilium GO:0032391 9.26 USH1C MYO7A
6 photoreceptor outer segment GO:0001750 9.13 USH1C PCDH15 MYO7A
7 stereocilium GO:0032420 9.02 USH1C PCDH15 MYO7A MYO15A CDH23

Biological processes related to Deafness, Autosomal Recessive 18a according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.63 WFS1 MYO7A CDH23
2 inner ear morphogenesis GO:0042472 9.54 USH1C MYO7A MYO15A
3 photoreceptor cell maintenance GO:0045494 9.5 USH1C PCDH15 CDH23
4 locomotory behavior GO:0007626 9.49 MYO15A CDH23
5 inner ear development GO:0048839 9.48 PCDH15 MYO7A
6 sensory perception of light stimulus GO:0050953 9.46 USH1C PCDH15 MYO7A CDH23
7 vesicle transport along actin filament GO:0030050 9.43 MYO7A MYO15A
8 inner ear receptor cell stereocilium organization GO:0060122 9.43 USH1C MYO7A CDH23
9 inner ear auditory receptor cell differentiation GO:0042491 9.4 USH1C MYO7A
10 equilibrioception GO:0050957 9.26 USH1C PCDH15 MYO7A CDH23
11 sensory perception of sound GO:0007605 9.1 WFS1 USH1C PCDH15 MYO7A MYO15A CDH23

Molecular functions related to Deafness, Autosomal Recessive 18a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.33 USH1C MYO7A MYO15A
2 spectrin binding GO:0030507 9.32 USH1C MYO7A
3 microfilament motor activity GO:0000146 9.26 MYO7A MYO15A
4 actin-dependent ATPase activity GO:0030898 8.96 MYO7A MYO15A
5 calmodulin binding GO:0005516 8.8 WFS1 MYO7A MYO15A

Sources for Deafness, Autosomal Recessive 18a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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