MCID: USH007
MIFTS: 41

Usher Syndrome, Type 1c malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases categories

Aliases & Classifications for Usher Syndrome, Type 1c

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Aliases & Descriptions for Usher Syndrome, Type 1c:

Name: Usher Syndrome, Type 1c 49 11 45 22 24
Ush1c 45 22 67
Usher Syndrome Type I Acadian Variety 67
Usher Syndrome, Acadian Variety 45
Usher's Syndrome Type 1c 67
 
Usher Syndrome, Type Ic 65
Usher Syndrome Type Ic 67
Acadian Usher Syndrome 67
Usher Syndrome 1c 67
Ush 1c 22


Classifications:



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OMIM49 276904
MedGen34 C1848604
MeSH36 D052245

Summaries for Usher Syndrome, Type 1c

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OMIM:49 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with... (276904) more...

MalaCards based summary: Usher Syndrome, Type 1c, also known as ush1c, is related to usher syndrome, type 1b and usher syndrome, and has symptoms including autosomal recessive inheritance, rod-cone dystrophy and vestibular hypofunction. An important gene associated with Usher Syndrome, Type 1c is USH1C (Usher Syndrome 1C). Affiliated tissues include retina and eye, and related mouse phenotype hearing/vestibular/ear.

NIH Rare Diseases:45 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. three major types of usher syndrome have been described - types i, ii, and iii.  the different types are distinguished by their severity and the age when signs and symptoms appear. all three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. last updated: 3/3/2014

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Usher Syndrome, Type 1c

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Graphical network of diseases related to Usher Syndrome, Type 1c:



Diseases related to usher syndrome, type 1c

Symptoms for Usher Syndrome, Type 1c

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Symptoms by clinical synopsis from OMIM:

276904

Clinical features from OMIM:

276904

HPO human phenotypes related to Usher Syndrome, Type 1c:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 rod-cone dystrophy HP:0000510
3 vestibular hypofunction HP:0001756
4 congenital sensorineural hearing impairment HP:0008527

Drugs & Therapeutics for Usher Syndrome, Type 1c

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Usher Syndrome, Type 1c

Genetic Tests for Usher Syndrome, Type 1c

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Genetic tests related to Usher Syndrome, Type 1c:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 1c22 USH1C
2 Usher Syndrome, Type 1c24

Anatomical Context for Usher Syndrome, Type 1c

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MalaCards organs/tissues related to Usher Syndrome, Type 1c:

33
Retina, Eye

Animal Models for Usher Syndrome, Type 1c or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome, Type 1c:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9MYO7A, USH1C, USH1G

Publications for Usher Syndrome, Type 1c

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Articles related to Usher Syndrome, Type 1c:

idTitleAuthorsYear
1
Therapy strategies for Usher syndrome Type 1C in the retina. (24664766)
2014
2
PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. (21235327)
2011
3
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. (10973247)
2000
4
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
5
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. (8828039)
1996

Variations for Usher Syndrome, Type 1c

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Clinvar genetic disease variations for Usher Syndrome, Type 1c:

5
id Gene Variation Type Significance SNP ID Assembly Location
1USH1CNM_005709.3(USH1C): c.308G> A (p.Arg103His)single nucleotide variantPathogenicrs397514500GRCh37Chr 11, 17552780: 17552780
2USH1CUSH1C, IVS16AS, G-T, -1single nucleotide variantPathogenic
3USH1CUSH1C, 1-BP DEL, 1220GdeletionPathogenic
4USH1CUSH1C, IVS5AS, A DEL, -2deletionPathogenic
5USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
6USH1CNM_005709.3(USH1C): c.496+59_496+103[9]NT expansionPathogenicrs387906330GRCh37Chr 11, 17548667: 17548711
7USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)single nucleotide variantPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
8USH1CUSH1C, IVS1DS, G-T, +1single nucleotide variantPathogenic
9USH1CUSH1C, IVS5DS, G-A, +1single nucleotide variantPathogenic
10USH1CNM_005709.3(USH1C): c.91C> T (p.Arg31Ter)single nucleotide variantPathogenicrs121908370GRCh37Chr 11, 17554815: 17554815

Expression for genes affiliated with Usher Syndrome, Type 1c

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Search GEO for disease gene expression data for Usher Syndrome, Type 1c.

Pathways for genes affiliated with Usher Syndrome, Type 1c

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GO Terms for genes affiliated with Usher Syndrome, Type 1c

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Cellular components related to Usher Syndrome, Type 1c according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00017509.6MYO7A, USH1C
2stereociliumGO:00324209.4MYO7A, USH1C
3photoreceptor connecting ciliumGO:00323919.2MYO7A, USH1G
4photoreceptor inner segmentGO:00019178.9MYO7A, USH1C, USH1G

Biological processes related to Usher Syndrome, Type 1c according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:00454949.7USH1C, USH1G
2inner ear receptor cell differentiationGO:00601139.5MYO7A, USH1G
3auditory receptor cell differentiationGO:00424919.4MYO7A, USH1C
4equilibrioceptionGO:00509579.3MYO7A, USH1C, USH1G
5sensory perception of light stimulusGO:00509539.0MYO7A, USH1C, USH1G
6inner ear receptor stereocilium organizationGO:00601228.9MYO7A, USH1C, USH1G
7inner ear morphogenesisGO:00424728.9MYO7A, USH1C, USH1G
8sensory perception of soundGO:00076058.6MYO7A, USH1C, USH1G

Molecular functions related to Usher Syndrome, Type 1c according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.4MYO7A, USH1C
2PDZ domain bindingGO:00301659.1LNX1, USHBP1
3spectrin bindingGO:00305079.0MYO7A, USH1C, USH1G

Sources for Usher Syndrome, Type 1c

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet