MCID: USH010
MIFTS: 30

Usher Syndrome, Type 1f malady

Summaries for Usher Syndrome, Type 1f

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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 1f, also known as usher syndrome, type if, is related to usher syndrome and nonsyndromic deafness. An important gene associated with Usher Syndrome, Type 1f is PCDH15 (protocadherin-related 15). The compound actomyosin have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and vision/eye.

Description from OMIM:46 602083

Aliases & Classifications for Usher Syndrome, Type 1f

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

usher syndrome, type 1f 42 20 22 46
usher syndrome, type if 60
ush1f 42


Related Diseases for Usher Syndrome, Type 1f

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Usher Syndrome, Type 1f:



Diseases related to usher syndrome, type 1f

Clinical Features for Usher Syndrome, Type 1f

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46OMIM
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Clinical features from OMIM:

602083

Clinical synopsis from OMIM:

602083

Drugs & Therapeutics for Usher Syndrome, Type 1f

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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 1f

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20GeneTests, 22GTR
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Genetic tests related to Usher Syndrome, Type 1f:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 1f20 PCDH15
2 Usher Syndrome, Type 1f22

Anatomical Context for Usher Syndrome, Type 1f

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.2PCDH15, MYO7A, USH1G, USH1C
2MP:00053917.9USH1C, USH1G, MYO7A, PCDH15
3MP:00053777.5PCDH15, MYO7A, USH1G, USH1C, COCH

Publications for Usher Syndrome, Type 1f

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Genetic Variations for Usher Syndrome, Type 1f

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Usher Syndrome, Type 1f:

62
id Symbol AA change Variation ID SNP ID
1PCDH15p.Gln1342LysVAR_024037rs61731387

Expression for genes affiliated with Usher Syndrome, Type 1f

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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 1f

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Pathways for genes affiliated with Usher Syndrome, Type 1f

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Compounds for genes affiliated with Usher Syndrome, Type 1f

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44Novoseek
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Compounds related to Usher Syndrome, Type 1f according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1actomyosin449.1MYO7A, CAMK2G

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

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16Gene Ontology
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Cellular components related to Usher Syndrome, Type 1f according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:0019178.7MYO7A, USH1C
2stereociliumGO:0324208.7PCDH15, MYO7A, USH1C
3photoreceptor outer segmentGO:0017508.6PCDH15, MYO7A, USH1C
4synapseGO:0452028.5USH1C, MYO7A, PCDH15
5cytosolGO:0058298.1MYO7A, USH1G, USH1C, CAMK2G

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

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:0424729.4USH1G, USH1C
2photoreceptor cell maintenanceGO:0454948.7PCDH15, USH1G, USH1C
3equilibrioceptionGO:0509578.2PCDH15, MYO7A, USH1G, USH1C
4sensory perception of light stimulusGO:0509538.2USH1C, USH1G, MYO7A, PCDH15
5sensory perception of soundGO:0076057.5COCH, USH1C, USH1G, MYO7A, PCDH15

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

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:0055169.1MYO7A, CAMK2G

Products for genes affiliated with Usher Syndrome, Type 1f

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Usher Syndrome, Type 1f

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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