MCID: USH010
MIFTS: 40

Usher Syndrome, Type 1f malady

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

Aliases & Classifications for Usher Syndrome, Type 1f

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Aliases & Descriptions for Usher Syndrome, Type 1f:

Name: Usher Syndrome, Type 1f 49 11 45 22 24
Ush1f 45 22 67
Usher's Syndrome Type 1f 67
 
Usher Syndrome, Type if 65
Usher Syndrome Type if 67
Usher Syndrome 1f 67


Classifications:



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OMIM49 602083
MedGen34 C1865885
MeSH36 D052245

Summaries for Usher Syndrome, Type 1f

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NIH Rare Diseases:45 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 ush1f, is related to usher syndrome, type 1b and usher syndrome, and has symptoms including autosomal recessive inheritance, rod-cone dystrophy and motor delay. An important gene associated with Usher Syndrome, Type 1f is PCDH15 (Protocadherin-Related 15). Affiliated tissues include eye, and related mouse phenotypes are vision/eye and hearing/vestibular/ear.

OMIM:49 Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy... (602083) more...

UniProtKB/Swiss-Prot:67 Usher syndrome 1F: 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 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 rod-cone dystrophy 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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Usher Syndrome, Type 1f

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 1f22 PCDH15
2 Usher Syndrome, Type 1f24

Anatomical Context for Usher Syndrome, Type 1f

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

33
Eye

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2MYO7A, PCDH15, USH1C, USH1G
2MP:00053777.6COCH, MYO7A, PCDH15, USH1C, USH1G

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:

67
id Symbol AA change Variation ID SNP ID
1PCDH15p.Gln1342LysVAR_024037rs61731387
2PCDH15p.Arg134GlnVAR_071696

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1NC_000010.11: g.(?_54317271)_(54664277_?)deldeletionPathogenicGRCh37Chr 10, 56077031: 56424037
2PCDH15NM_033056.3(PCDH15): c.1927C> T (p.Arg643Ter)single nucleotide variantPathogenicrs727504301GRCh37Chr 10, 55849814: 55849814
3PCDH15NM_033056.3(PCDH15): c.3717+1G> Asingle nucleotide variantLikely pathogenicrs748706627GRCh37Chr 10, 55626401: 55626401
4PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
5PCDH15NM_033056.3(PCDH15): c.1998-2A> Gsingle nucleotide variantPathogenicrs397517452GRCh37Chr 10, 55839186: 55839186
6PCDH15NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter)single nucleotide variantLikely pathogenic, Pathogenicrs202033121GRCh37Chr 10, 55698632: 55698632
7PCDH15PCDH15, IVS27, A-G, -2single nucleotide variantPathogenic
8PCDH15NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter)single nucleotide variantLikely pathogenic, Pathogenicrs137853001GRCh37Chr 10, 56424016: 56424016
9PCDH15NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs)deletionPathogenicrs199469706GRCh37Chr 10, 55973708: 55973708
10PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
11PCDH15PCDH15, 3-BP DEL, 5601AACdeletionPathogenic
12PCDH15NM_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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Search GEO for disease gene expression data for Usher Syndrome, Type 1f.

Pathways for genes affiliated with Usher Syndrome, Type 1f

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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00017509.4MYO7A, PCDH15, USH1C
2photoreceptor connecting ciliumGO:00323919.3MYO7A, USH1G
3stereociliumGO:00324209.0MYO7A, PCDH15, USH1C
4synapseGO:00452029.0MYO7A, PCDH15, USH1C
5photoreceptor inner segmentGO:00019178.8MYO7A, USH1C, USH1G

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell stereocilium organizationGO:006008810.0MYO7A, PCDH15
2inner ear developmentGO:00488399.5MYO7A, PCDH15
3inner ear receptor cell differentiationGO:00601139.4MYO7A, USH1G
4auditory receptor cell differentiationGO:00424919.1MYO7A, PCDH15, USH1C
5photoreceptor cell maintenanceGO:00454949.0PCDH15, USH1C, USH1G
6equilibrioceptionGO:00509578.6MYO7A, PCDH15, USH1C, USH1G
7sensory perception of light stimulusGO:00509538.4MYO7A, PCDH15, USH1C, USH1G
8inner ear receptor stereocilium organizationGO:00601228.3MYO7A, PCDH15, USH1C, USH1G
9inner ear morphogenesisGO:00424728.3MYO7A, USH1C, USH1G
10sensory perception of soundGO:00076057.6COCH, MYO7A, PCDH15, USH1C, USH1G

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

idNameGO IDScoreTop Affiliating Genes
1protein N-terminus bindingGO:00474859.9MYO7A, PCDH15
2actin filament bindingGO:00510159.8MYO7A, USH1C
3spectrin bindingGO:00305079.0MYO7A, USH1C, USH1G
4protein homodimerization activityGO:00428038.5CAMK2G, MYO7A, USH1G

Sources for Usher Syndrome, Type 1f

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet