USH1C
MCID: USH039
MIFTS: 39

Usher Syndrome, Type Ic (USH1C)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Usher Syndrome, Type Ic

MalaCards integrated aliases for Usher Syndrome, Type Ic:

Name: Usher Syndrome, Type Ic 58 74
Usher Syndrome, Type 1c 58 77 54 30 13 6 41
Ush1c 58 12 54 76
Usher Syndrome Type I Acadian Variety 12 76
Usher Syndrome Type 1c 12 15
Usher Syndrome Type Ic 12 76
Usher Syndrome, Type I, Acadian Variety 58
Usher Syndrome, Acadian Variety 54
Usher's Syndrome Type 1c 76
Acadian Usher Syndrome 76
Usher Syndrome 1c 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
first described in acadian population of louisiana
allelic to deafness, neurosensory, autosomal recessive 18
later onset of hearing loss in some patients


HPO:

33
usher syndrome, type ic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110830
OMIM 58 276904
MeSH 45 D052245
ICD10 34 H35.5
MedGen 43 C1848604
UMLS 74 C1848604

Summaries for Usher Syndrome, Type Ic

OMIM : 58 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (276900). (276904)

MalaCards based summary : Usher Syndrome, Type Ic, also known as usher syndrome, type 1c, is related to usher syndrome, type i and retinal degeneration. An important gene associated with Usher Syndrome, Type Ic is USH1C (USH1 Protein Network Component Harmonin), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production. Affiliated tissues include retina, kidney and eye, and related phenotypes are rod-cone dystrophy and congenital sensorineural hearing impairment

Disease Ontology : 12 An Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15.

UniProtKB/Swiss-Prot : 76 Usher syndrome 1C: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

Wikipedia : 77 Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis... more...

Related Diseases for Usher Syndrome, Type Ic

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome, Type Iv
Usher Syndrome Type 2 Usher Syndrome, Type 2b

Diseases related to Usher Syndrome, Type Ic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type i 31.8 CLRN1 MYO7A USH1C
2 retinal degeneration 31.6 MYO7A USH1C
3 usher syndrome, type if 31.4 MYO7A USH1C
4 usher syndrome, type id 31.4 MYO7A USH1C
5 usher syndrome, type iid 31.3 MYO7A USH1C
6 usher syndrome, type iiia 31.1 CLRN1 MYO7A USH1C
7 auditory system disease 31.1 MYO7A USH1C
8 usher syndrome type 2 31.0 CLRN1 MYO7A USH1C
9 autosomal recessive non-syndromic sensorineural deafness type dfnb 31.0 MYO7A USH1C
10 usher syndrome, type iic 30.9 CLRN1 MYO7A USH1C
11 usher syndrome 29.3 CLRN1 MYO7A USH1C USHBP1
12 retinitis pigmentosa 11.6
13 deafness, autosomal recessive 11.3
14 autoimmune enteropathy 11.2
15 usher syndrome, type iia 11.1
16 deafness, autosomal recessive 12 11.1
17 deafness, autosomal dominant 20 11.1
18 bardet-biedl syndrome 11.1
19 nonsyndromic deafness 11.0
20 retinitis pigmentosa-deafness syndrome 10.3
21 polycystic kidney disease 10.2
22 leber congenital amaurosis 4 10.2
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
24 retinitis 10.2
25 hyperinsulinism 10.1
26 deafness, autosomal recessive 18a 10.1
27 usher syndrome, type ig 10.0
28 bowenoid papulosis 10.0

Graphical network of the top 20 diseases related to Usher Syndrome, Type Ic:



Diseases related to Usher Syndrome, Type Ic

Symptoms & Phenotypes for Usher Syndrome, Type Ic

Human phenotypes related to Usher Syndrome, Type Ic:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 HP:0000510
2 congenital sensorineural hearing impairment 33 HP:0008527
3 vestibular hypofunction 33 HP:0001756

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
vestibular hypofunction
sensorineural hearing loss, profound congenital

Head And Neck Eyes:
retinitis pigmentosa, progressive (prepubertal onset)
retinitis pigmentosa, sector type (in some patients)

Clinical features from OMIM:

276904

MGI Mouse Phenotypes related to Usher Syndrome, Type Ic:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 CLRN1 DOCK2 MYO7A USH1C

Drugs & Therapeutics for Usher Syndrome, Type Ic

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type Ic

Genetic Tests for Usher Syndrome, Type Ic

Genetic tests related to Usher Syndrome, Type Ic:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 1c 30 USH1C

Anatomical Context for Usher Syndrome, Type Ic

MalaCards organs/tissues related to Usher Syndrome, Type Ic:

42
Retina, Kidney, Eye

Publications for Usher Syndrome, Type Ic

Articles related to Usher Syndrome, Type Ic:

(show all 22)
# Title Authors Year
1
Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. ( 29037661 )
2018
2
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. ( 28165476 )
2017
3
Therapy strategies for Usher syndrome Type 1C in the retina. ( 24664766 )
2014
4
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. ( 24651602 )
2014
5
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. ( 25262649 )
2014
6
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. ( 23251578 )
2012
7
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. ( 22135276 )
2012
8
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. ( 21487335 )
2011
9
PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. ( 21235327 )
2011
10
Clinical utility gene card for: Usher syndrome. ( 21697857 )
2011
11
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. ( 16679490 )
2006
12
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK. ( 12702164 )
2003
13
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. ( 12107438 )
2002
14
The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population. ( 11810303 )
2002
15
Two families from New England with usher syndrome type IC with distinct haplotypes. ( 11239869 )
2001
16
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. ( 11139240 )
2001
17
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. ( 10973248 )
2000
18
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. ( 10973247 )
2000
19
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. ( 9653658 )
1998
20
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. ( 9760205 )
1998
21
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. ( 8828039 )
1996
22
Fine mapping of the usher syndrome type IC to chromosome 11p14 and identification of flanking markers by haplotype analysis. ( 9238080 )
1995

Variations for Usher Syndrome, Type Ic

ClinVar genetic disease variations for Usher Syndrome, Type Ic:

6 (show top 50) (show all 232)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH1C USH1C, IVS5AS, A DEL, -2 deletion Pathogenic
2 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh37 Chromosome 11, 17552956: 17552956
3 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh38 Chromosome 11, 17531409: 17531409
4 USH1C NM_153676.3(USH1C) NT expansion Conflicting interpretations of pathogenicity rs55983148 GRCh37 Chromosome 11, 17548667: 17548711
5 USH1C NM_153676.3(USH1C) NT expansion Conflicting interpretations of pathogenicity rs55983148 GRCh38 Chromosome 11, 17527120: 17527164
6 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic/Likely pathogenic rs151045328 GRCh37 Chromosome 11, 17552978: 17552978
7 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic/Likely pathogenic rs151045328 GRCh38 Chromosome 11, 17531431: 17531431
8 USH1C USH1C, IVS1DS, G-T, +1 single nucleotide variant Pathogenic
9 USH1C USH1C, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
10 USH1C NM_005709.3(USH1C): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs121908370 GRCh37 Chromosome 11, 17554815: 17554815
11 USH1C NM_005709.3(USH1C): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs121908370 GRCh38 Chromosome 11, 17533268: 17533268
12 USH1C NM_005709.3(USH1C): c.388G> A (p.Val130Ile) single nucleotide variant Benign rs55843567 GRCh37 Chromosome 11, 17548878: 17548878
13 USH1C NM_005709.3(USH1C): c.388G> A (p.Val130Ile) single nucleotide variant Benign rs55843567 GRCh38 Chromosome 11, 17527331: 17527331
14 USH1C NM_153676.3(USH1C): c.308G> A (p.Arg103His) single nucleotide variant Conflicting interpretations of pathogenicity rs397514500 GRCh37 Chromosome 11, 17552780: 17552780
15 USH1C NM_153676.3(USH1C): c.308G> A (p.Arg103His) single nucleotide variant Conflicting interpretations of pathogenicity rs397514500 GRCh38 Chromosome 11, 17531233: 17531233
16 USH1C USH1C, IVS16AS, G-T, -1 single nucleotide variant Pathogenic
17 USH1C USH1C, 1-BP DEL, 1220G deletion Pathogenic
18 USH1C NM_005709.3(USH1C): c.1284+7552A> G single nucleotide variant Likely benign rs397517872 GRCh37 Chromosome 11, 17531396: 17531396
19 USH1C NM_005709.3(USH1C): c.1284+7552A> G single nucleotide variant Likely benign rs397517872 GRCh38 Chromosome 11, 17509849: 17509849
20 USH1C NM_005709.3(USH1C): c.1291C> T (p.Arg431Trp) single nucleotide variant Uncertain significance rs397517874 GRCh37 Chromosome 11, 17523521: 17523521
21 USH1C NM_005709.3(USH1C): c.1291C> T (p.Arg431Trp) single nucleotide variant Uncertain significance rs397517874 GRCh38 Chromosome 11, 17501974: 17501974
22 USH1C NM_005709.3(USH1C): c.1294A> G (p.Lys432Glu) single nucleotide variant Uncertain significance rs148168494 GRCh37 Chromosome 11, 17523518: 17523518
23 USH1C NM_005709.3(USH1C): c.1294A> G (p.Lys432Glu) single nucleotide variant Uncertain significance rs148168494 GRCh38 Chromosome 11, 17501971: 17501971
24 USH1C NM_005709.3(USH1C): c.1441G> A (p.Val481Ile) single nucleotide variant Uncertain significance rs397517875 GRCh37 Chromosome 11, 17522637: 17522637
25 USH1C NM_005709.3(USH1C): c.1441G> A (p.Val481Ile) single nucleotide variant Uncertain significance rs397517875 GRCh38 Chromosome 11, 17501090: 17501090
26 USH1C NM_005709.3(USH1C): c.1518C> T (p.Asn506=) single nucleotide variant Likely benign rs397517876 GRCh37 Chromosome 11, 17519781: 17519781
27 USH1C NM_005709.3(USH1C): c.1518C> T (p.Asn506=) single nucleotide variant Likely benign rs397517876 GRCh38 Chromosome 11, 17498234: 17498234
28 USH1C NM_005709.3(USH1C): c.1541C> A (p.Thr514Asn) single nucleotide variant Uncertain significance rs397517877 GRCh37 Chromosome 11, 17519758: 17519758
29 USH1C NM_005709.3(USH1C): c.1541C> A (p.Thr514Asn) single nucleotide variant Uncertain significance rs397517877 GRCh38 Chromosome 11, 17498211: 17498211
30 USH1C NM_005709.3(USH1C): c.1558G> A (p.Ala520Thr) single nucleotide variant Uncertain significance rs397517878 GRCh37 Chromosome 11, 17519741: 17519741
31 USH1C NM_005709.3(USH1C): c.1558G> A (p.Ala520Thr) single nucleotide variant Uncertain significance rs397517878 GRCh38 Chromosome 11, 17498194: 17498194
32 USH1C NM_005709.3(USH1C): c.1646+1145G> A single nucleotide variant Conflicting interpretations of pathogenicity rs56165709 GRCh37 Chromosome 11, 17517160: 17517160
33 USH1C NM_005709.3(USH1C): c.1646+1145G> A single nucleotide variant Conflicting interpretations of pathogenicity rs56165709 GRCh38 Chromosome 11, 17495613: 17495613
34 USH1C NM_005709.3(USH1C): c.1646+1151G> A single nucleotide variant Likely benign rs201533059 GRCh37 Chromosome 11, 17517154: 17517154
35 USH1C NM_005709.3(USH1C): c.1646+1151G> A single nucleotide variant Likely benign rs201533059 GRCh38 Chromosome 11, 17495607: 17495607
36 USH1C NM_005709.3(USH1C): c.497-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs397517881 GRCh37 Chromosome 11, 17548591: 17548591
37 USH1C NM_005709.3(USH1C): c.497-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs397517881 GRCh38 Chromosome 11, 17527044: 17527044
38 USH1C NM_005709.3(USH1C): c.582C> T (p.Gly194=) single nucleotide variant Likely benign rs397517882 GRCh37 Chromosome 11, 17547986: 17547986
39 USH1C NM_005709.3(USH1C): c.582C> T (p.Gly194=) single nucleotide variant Likely benign rs397517882 GRCh38 Chromosome 11, 17526439: 17526439
40 USH1C NM_005709.3(USH1C): c.76C> T (p.Leu26Phe) single nucleotide variant Uncertain significance rs267602805 GRCh37 Chromosome 11, 17554830: 17554830
41 USH1C NM_005709.3(USH1C): c.76C> T (p.Leu26Phe) single nucleotide variant Uncertain significance rs267602805 GRCh38 Chromosome 11, 17533283: 17533283
42 USH1C NM_005709.3(USH1C): c.76C> T (p.Leu26Phe) single nucleotide variant Uncertain significance rs267602805 NCBI36 Chromosome 11, 17511406: 17511406
43 USH1C NM_005709.3(USH1C): c.569C> T (p.Ser190Leu) single nucleotide variant Uncertain significance rs200319849 GRCh37 Chromosome 11, 17548310: 17548310
44 USH1C NM_005709.3(USH1C): c.569C> T (p.Ser190Leu) single nucleotide variant Uncertain significance rs200319849 GRCh38 Chromosome 11, 17526763: 17526763
45 USH1C NM_005709.3(USH1C): c.1340A> G (p.Gln447Arg) single nucleotide variant Uncertain significance rs201600193 GRCh38 Chromosome 11, 17501522: 17501522
46 USH1C NM_005709.3(USH1C): c.1340A> G (p.Gln447Arg) single nucleotide variant Uncertain significance rs201600193 GRCh37 Chromosome 11, 17523069: 17523069
47 USH1C NM_005709.3(USH1C): c.1285-7515C> T single nucleotide variant Uncertain significance rs727505187 GRCh37 Chromosome 11, 17531042: 17531042
48 USH1C NM_005709.3(USH1C): c.1285-7515C> T single nucleotide variant Uncertain significance rs727505187 GRCh38 Chromosome 11, 17509495: 17509495
49 USH1C NM_005709.3(USH1C): c.1285-7567C> T single nucleotide variant Conflicting interpretations of pathogenicity rs727505247 GRCh37 Chromosome 11, 17531094: 17531094
50 USH1C NM_005709.3(USH1C): c.1285-7567C> T single nucleotide variant Conflicting interpretations of pathogenicity rs727505247 GRCh38 Chromosome 11, 17509547: 17509547

Expression for Usher Syndrome, Type Ic

Search GEO for disease gene expression data for Usher Syndrome, Type Ic.

Pathways for Usher Syndrome, Type Ic

Pathways related to Usher Syndrome, Type Ic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 DOCK2 DOCK4

GO Terms for Usher Syndrome, Type Ic

Cellular components related to Usher Syndrome, Type Ic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.32 MYO7A USH1C
2 photoreceptor inner segment GO:0001917 9.26 MYO7A USH1C
3 photoreceptor connecting cilium GO:0032391 9.16 MYO7A USH1C
4 microvillus GO:0005902 9.13 CLRN1 MYO7A USH1C
5 stereocilium GO:0032420 8.92 CLRN1 DOCK4 MYO7A USH1C

Biological processes related to Usher Syndrome, Type Ic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small GTPase mediated signal transduction GO:0007264 9.46 DOCK2 DOCK4
2 inner ear morphogenesis GO:0042472 9.43 MYO7A USH1C
3 sensory perception of sound GO:0007605 9.43 CLRN1 MYO7A USH1C
4 photoreceptor cell maintenance GO:0045494 9.4 CLRN1 USH1C
5 inner ear receptor cell stereocilium organization GO:0060122 9.37 MYO7A USH1C
6 auditory receptor cell stereocilium organization GO:0060088 9.32 CLRN1 MYO7A
7 inner ear auditory receptor cell differentiation GO:0042491 9.16 MYO7A USH1C
8 sensory perception of light stimulus GO:0050953 9.13 CLRN1 MYO7A USH1C
9 equilibrioception GO:0050957 8.8 CLRN1 MYO7A USH1C

Molecular functions related to Usher Syndrome, Type Ic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.16 DOCK2 DOCK4
2 PDZ domain binding GO:0030165 8.96 DOCK4 USHBP1
3 spectrin binding GO:0030507 8.62 MYO7A USH1C

Sources for Usher Syndrome, Type Ic

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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