MCID: USH007
MIFTS: 41

Usher Syndrome, Type 1c malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases categories
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Summaries for Usher Syndrome, Type 1c

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NIH Rare Diseases:42 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

MalaCards based summary: Usher Syndrome, Type 1c, also known as usher syndrome, acadian variety, is related to usher syndrome and retinal degeneration, and has symptoms including An important gene associated with Usher Syndrome, Type 1c is USH1C (Usher syndrome 1C (autosomal recessive, severe)). Affiliated tissues include retina, and related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

Description from OMIM:46 276904

Aliases & Classifications for Usher Syndrome, Type 1c

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Usher Syndrome, Type 1c, Aliases & Descriptions:

Name: Usher Syndrome, Type 1c 42 20 22 46
Usher Syndrome, Acadian Variety 42
 
Usher Syndrome, Type Ic 62
Ush1c 42


Classifications:



Related Diseases for Usher Syndrome, Type 1c

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Graphical network of the top 20 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 retinitis pigmentosa 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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Drug clinical trials:

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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 1c20 USH1C
2 Usher Syndrome, Type 1c22

Anatomical Context for Usher Syndrome, Type 1c

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

32
Retina

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5MYO7A, USH1G, USH1C
2MP:00053778.4MYO7A, USH1G, USH1C
3MP:00053918.2MYO7A, USH1G, USH1C

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:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1USH1CNM_005709.3(USH1C): c.308G> A (p.Arg103His)single nucleotide variantPathogenicrs397514500GRCh37Chr 11, 17552780: 17552780
2USH1CUSH1C, IVS16, 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_153676.3: c.497-79_541-35[9]NT expansionPathogenicrs387906330GRCh37Chr 11, 17548622: 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
11USH1CNM_005709.3(USH1C): c.388G> A (p.Val130Ile)single nucleotide variantPathogenicrs55843567GRCh37Chr 11, 17548878: 17548878

Expression for genes affiliated with Usher Syndrome, Type 1c

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Expression patterns in normal tissues for genes affiliated with Usher Syndrome, Type 1c

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Pathways for genes affiliated with Usher Syndrome, Type 1c

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Compounds 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stereociliumGO:0324209.2MYO7A, USH1C
2photoreceptor inner segmentGO:0019179.1MYO7A, USH1C
3photoreceptor outer segmentGO:0017509.0USH1C, MYO7A
4synapseGO:0452028.8MYO7A, USH1C
5cytosolGO:0058298.5MYO7A, USH1G, USH1C

Biological processes related to Usher Syndrome, Type 1c according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:0424729.3USH1G, USH1C
2photoreceptor cell maintenanceGO:0454949.0USH1G, USH1C
3equilibrioceptionGO:0509578.6MYO7A, USH1G, USH1C
4sensory perception of light stimulusGO:0509538.5MYO7A, USH1G, USH1C
5sensory perception of soundGO:0076058.4USH1C, USH1G, MYO7A

Molecular functions related to Usher Syndrome, Type 1c according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428039.0MYO7A, USH1G
2protein bindingGO:0055157.7MYO7A, USH1G, USH1C, LNX1

Products for genes affiliated with Usher Syndrome, Type 1c

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Sources for Usher Syndrome, Type 1c

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet