MCID: USH010
MIFTS: 39

Usher Syndrome, Type 1f malady

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

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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 1f, also known as usher syndrome, type if, is related to usher syndrome and dfnb1, and has symptoms including 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:46 602083

Aliases & Classifications for Usher Syndrome, Type 1f

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Usher Syndrome, Type 1f, Aliases & Descriptions:

Name: Usher Syndrome, Type 1f 42 20 22 46
Usher Syndrome, Type if 62
 
Ush1f 42


Classifications:



Related Diseases for Usher Syndrome, Type 1f

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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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Symptoms by clinical synopsis from OMIM:

602083

Clinical features from OMIM:

602083

HPO human phenotypes related to Usher Syndrome, Type 1f:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 retinitis pigmentosa HP:0000510
3 motor delay HP:0001270
4 congenital sensorineural hearing impairment HP:0008527

Drugs & Therapeutics for Usher Syndrome, Type 1f

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Drug clinical trials:

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Genetic Tests for Usher Syndrome, Type 1f

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.2PCDH15, MYO7A, USH1G, USH1C
2MP:00053918.1PCDH15, USH1C, USH1G, MYO7A
3MP:00053867.9USH1C, USH1G, MYO7A, PCDH15
4MP:00053777.6USH1C, USH1G, MYO7A, PCDH15, COCH

Publications for Usher Syndrome, Type 1f

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

64
id Symbol AA change Variation ID SNP ID
1PCDH15p.Gln1342LysVAR_024037rs61731387
2PCDH15p.Arg134GlnVAR_071696

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

6
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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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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Sources:
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Compounds related to Usher Syndrome, Type 1f according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1actomyosin449.1CAMK2G, MYO7A

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

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet