MCID: USH007
MIFTS: 30

Usher Syndrome, Type 1c malady

Summaries for Usher Syndrome, Type 1c

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Usher Syndrome, Type 1c, also known as usher syndrome, acadian variety, is related to usher syndrome and nonsyndromic deafness. An important gene associated with Usher Syndrome, Type 1c is USH1C (Usher syndrome 1C (autosomal recessive, severe)). Related mouse phenotypes are vision/eye and hearing/vestibular/ear.

Description from OMIM:46 276904

Aliases & Classifications for Usher Syndrome, Type 1c

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

usher syndrome, type 1c 42 20 22 46
usher syndrome, acadian variety 42
usher syndrome, type ic 60
ush1c 42


Related Diseases for Usher Syndrome, Type 1c

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17GeneCards, 18GeneDecks
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Diseases in the Usher Syndrome Type 2a family:

Usher Syndrome Usher Syndrome Type I
Usher Syndrome Type Ii Usher Syndrome, Type 2b
usher syndrome, type 1c Usher Syndrome, Type 1d
Usher Syndrome, Type 1e Usher Syndrome, Type 1f
Usher Syndrome, Type 2c Usher Syndrome Type 3
Usher Syndrome, Type 1b Usher Syndrome Type 1g
Usher Syndrome Type 1h Usher Syndrome Type 3b
Usher Syndrome Type 1j Usher Syndrome Type 1k
Usher Syndrome Type 2d Usher Syndrome Type 3a
Usher Syndrome, Type Ik Usher Syndrome, Type Ij

Diseases related to Usher Syndrome, Type 1c via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome30.8LNX1, MYO7A, USH1G, USH1C
2nonsyndromic deafness30.4MYO7A, USH1C
3retinal degeneration30.3MYO7A, USH1C
4usher syndrome type i30.3MYO7A, USH1G, USH1C
5sensorineural hearing loss30.0USH1C, USH1G, MYO7A
6blindness29.8MYO7A
7retinitis10.3
8autoimmune enteropathy10.3
9usher syndrome type 1g10.3
10hyperinsulinism10.3
11familial hyperinsulinism10.3
12retinitis pigmentosa10.3
13usher syndrome, type 1d10.2
14usher syndrome, type 1f10.2
15nonsyndromic hearing loss and deafness, autosomal recessive10.1
16dfnb18 nonsyndromic hearing loss and deafness10.1
17bardet-biedl syndrome10.1
18adenocarcinoma10.1
19renal cell carcinoma10.1
20retinal disease10.1
21usher syndrome type 310.1
22rhyns syndrome10.0MYO7A, USH1G, USH1C
23multiple myeloma9.9
24myeloma9.9
25deafness and hereditary hearing loss9.9
26usher syndrome, type 1b9.9
27nonsyndromic hearing loss and deafness9.9
28ataxia9.9
29deafness, autosomal recessive 18a9.9
30deafness, autosomal recessive 769.9

Graphical network of the top 20 diseases related to Usher Syndrome, Type 1c:



Diseases related to usher syndrome, type 1c

Clinical Features for Usher Syndrome, Type 1c

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46OMIM
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Clinical features from OMIM:

276904

Clinical synopsis from OMIM:

276904

Drugs & Therapeutics for Usher Syndrome, Type 1c

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Usher Syndrome, Type 1c

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20GeneTests, 22GTR
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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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Animal Models for Usher Syndrome, Type 1c or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Usher Syndrome, Type 1c:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.9MYO7A, USH1G, USH1C
2MP:00053778.6MYO7A, USH1G, USH1C

Publications for Usher Syndrome, Type 1c

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Genetic Variations for Usher Syndrome, Type 1c

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Expression for genes affiliated with Usher Syndrome, Type 1c

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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16Gene Ontology
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Cellular components related to Usher Syndrome, Type 1c according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stereociliumGO:0324209.4MYO7A, USH1C
2synapseGO:0452029.4MYO7A, USH1C
3photoreceptor inner segmentGO:0019179.3MYO7A, USH1C
4photoreceptor outer segmentGO:0017509.1MYO7A, USH1C

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

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:0424729.5USH1G, USH1C
2photoreceptor cell maintenanceGO:0454949.2USH1G, USH1C
3equilibrioceptionGO:0509578.9MYO7A, USH1G, USH1C
4sensory perception of light stimulusGO:0509538.9MYO7A, USH1G, USH1C
5sensory perception of soundGO:0076058.8USH1C, USH1G, MYO7A

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

idNameGO IDScoreTop Affiliating Genes
1PDZ domain bindingGO:0301658.8LNX1, USHBP1
2protein bindingGO:0055157.5LNX1, MYO7A, USH1G, USH1C, USHBP1

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet