MCID: USH010
MIFTS: 39

Usher Syndrome, Type 1f malady

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

Summaries for Usher Syndrome, Type 1f

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 usher syndrome, type 1b. 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 nervous system and vision/eye.

Description from OMIM:48 602083

Aliases & Classifications for Usher Syndrome, Type 1f

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

usher syndrome, type 1f 44 21 23 48
usher syndrome, type if 63
ush1f 44


Related Diseases for Usher Syndrome, Type 1f

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Usher Syndrome, Type 1f:



Diseases related to usher syndrome, type 1f

Symptoms for Usher Syndrome, Type 1f

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48OMIM
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Symptoms by clinical synopsis from OMIM:

602083

Clinical features from OMIM:

602083

Drugs & Therapeutics for Usher Syndrome, Type 1f

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Usher Syndrome, Type 1f

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21GeneTests, 23GTR
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Genetic tests related to Usher Syndrome, Type 1f:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 1f21 PCDH15
2 Usher Syndrome, Type 1f23

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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38MGI
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MGI Mouse Phenotypes related to Usher Syndrome, Type 1f:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.2PCDH15, MYO7A, USH1G, USH1C
2MP:00053918.1USH1C, USH1G, MYO7A, PCDH15
3MP:00053867.9USH1C, USH1G, MYO7A, PCDH15
4MP:00053777.6PCDH15, COCH, MYO7A, USH1G, USH1C

Publications for Usher Syndrome, Type 1f

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53PubMed
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Articles related to Usher Syndrome, Type 1f:

idTitleAuthorsYear
1
Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F. (20097680)
2010
2
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. (11487575)
2001
3
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. (11398101)
2001

Variations for Usher Syndrome, Type 1f

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 1f:

65
id Symbol AA change Variation ID SNP ID
1PCDH15p.Gln1342LysVAR_024037rs61731387

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

1
id Gene Name Type Significance SNP ID Assembly Location
1PCDH15PCDH15, IVS27, A-G, -2single nucleotide variantPathogenic
2PCDH15NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter)single nucleotide variantPathogenicrs137853001GRCh37Chr 10, 56424016: 56424016
3PCDH15NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs)deletionPathogenicrs199469706GRCh37Chr 10, 55973708: 55973708
4PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
5PCDH15PCDH15, 3-BP DEL, 5601AACdeletionPathogenic
6PCDH15NM_033056.3(PCDH15): c.1940C> G (p.Ser647Ter)single nucleotide variantPathogenicrs137853004GRCh37Chr 10, 55849801: 55849801

Expression for genes affiliated with Usher Syndrome, Type 1f

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2BioGPS, 16Gene 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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46Novoseek
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Compounds related to Usher Syndrome, Type 1f according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1actomyosin469.1CAMK2G, MYO7A

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

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17Gene Ontology
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Cellular components related to Usher Syndrome, Type 1f according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:0019178.9USH1C, MYO7A
2stereociliumGO:0324208.7PCDH15, MYO7A, USH1C
3photoreceptor outer segmentGO:0017508.7USH1C, MYO7A, PCDH15
4synapseGO:0452028.6PCDH15, MYO7A, USH1C
5plasma membraneGO:0058868.5CAMK2G, PCDH15, USH1G, USH1C
6cytosolGO:0058297.8CAMK2G, MYO7A, USH1G, USH1C

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:0076057.5USH1C, USH1G, MYO7A, COCH, PCDH15

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

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:0055168.8CAMK2G, MYO7A
2protein bindingGO:0055157.5CAMK2G, COCH, MYO7A, USH1G, USH1C

Products for genes affiliated with Usher Syndrome, Type 1f

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  • Antibodies
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Sources for Usher Syndrome, Type 1f

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet