MCID: USH007
MIFTS: 37

Usher Syndrome, Type 1c malady

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

Aliases & Classifications for Usher Syndrome, Type 1c

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Aliases & Descriptions for Usher Syndrome, Type 1c:

Name: Usher Syndrome, Type 1c 50 46 12
Ush1c 46 23 68
Usher's Syndrome Type 1c 68 25
Usher Syndrome Type I Acadian Variety 68
Usher Syndrome, Acadian Variety 46
Usher Syndrome, Type Ic 66
 
Acadian Usher Syndrome 68
Usher Syndrome Type 1c 23
Usher Syndrome Type Ic 68
Usher Syndrome 1c 68
Ush 1c 23

Characteristics:

HPO:

62
usher syndrome, type 1c:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 276904
MedGen35 C1848604
MeSH37 D052245

Summaries for Usher Syndrome, Type 1c

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OMIM:50 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 polycystic kidney disease and usher syndrome, and has symptoms including rod-cone dystrophy, vestibular hypofunction and congenital sensorineural hearing impairment. An important gene associated with Usher Syndrome, Type 1c is USH1C (USH1 Protein Network Component Harmonin). Affiliated tissues include retina, and related mouse phenotype hearing/vestibular/ear.

NIH Rare Diseases:46 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:68 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 rod-cone dystrophy HP:0000510
2 vestibular hypofunction HP:0001756
3 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 1c25
2 Usher Syndrome Type 1c23 USH1C

Anatomical Context for Usher Syndrome, Type 1c

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

34
Retina

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

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

39
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:00017509.8MYO7A, USH1C
2photoreceptor connecting ciliumGO:00323919.8MYO7A, USH1G
3microvillusGO:00059029.7MYO7A, USH1C
4stereociliumGO:00324209.5MYO7A, USH1C
5synapseGO:00452029.1MYO7A, USH1C
6photoreceptor inner segmentGO:00019178.9MYO7A, USH1C, USH1G

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1inner ear receptor stereocilium organizationGO:00601229.6MYO7A, USH1G
2photoreceptor cell maintenanceGO:00454949.5USH1C, USH1G
3inner ear receptor cell differentiationGO:00601139.5MYO7A, USH1G
4sensory perception of light stimulusGO:00509539.2MYO7A, USH1C, USH1G
5equilibrioceptionGO:00509579.2MYO7A, USH1C, USH1G
6inner ear morphogenesisGO:00424729.0MYO7A, USH1G
7sensory perception of soundGO:00076058.9MYO7A, USH1C, USH1G

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.5MYO7A, USH1C
2PDZ domain bindingGO:00301659.1LNX1, USHBP1
3spectrin bindingGO:00305078.8MYO7A, USH1C, USH1G

Sources for Usher Syndrome, Type 1c

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet