MCID: USH010
MIFTS: 37

Usher Syndrome, Type 1f malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Usher Syndrome, Type 1f

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Aliases & Descriptions for Usher Syndrome, Type 1f:

Name: Usher Syndrome, Type 1f 50 46 12
Ush1f 46 23 68
Usher's Syndrome Type 1f 68 25
Usher Syndrome, Type if 66
 
Usher Syndrome Type if 68
Usher Syndrome Type 1f 23
Usher Syndrome 1f 68

Characteristics:

HPO:

62
usher syndrome, type 1f:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 602083
MedGen35 C1865885
MeSH37 D052245

Summaries for Usher Syndrome, Type 1f

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NIH Rare Diseases:46 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 and continuous spike-wave during slow sleep syndrome, and has symptoms including rod-cone dystrophy, motor delay and congenital sensorineural hearing impairment. An important gene associated with Usher Syndrome, Type 1f is PCDH15 (Protocadherin Related 15). Related mouse phenotypes are vision/eye and hearing/vestibular/ear.

OMIM:50 Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy... (602083) more...

UniProtKB/Swiss-Prot:68 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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Diseases in the Usher Syndrome family:

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

Diseases related to Usher Syndrome, Type 1f via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome10.3
2continuous spike-wave during slow sleep syndrome10.1MYO7A, PCDH15
3usher syndrome, type 1b10.0
4ovarian embryonal carcinoma10.0MYO7A, PCDH15
5deafness, autosomal recessive 1210.0PCDH15, USH1C
6self-healing papular mucinosis9.8COCH, MYO7A
7porokeratosis 9, multiple types9.7MYO7A, PCDH15
8autosomal recessive nonsyndromic deafness9.7COCH, MYO7A, PCDH15
9localized lichen myxedematosus with mixed features of different subtypes9.6MYO7A, PCDH15, USH1C
10hyperimmunoglobulin syndrome9.5COCH, MYO7A, USH1C
11telogen effluvium9.4MYO7A, PCDH15, USH1C
12deafness, autosomal recessive 18a9.2MYO7A, USH1C, USH1G
13pyelitis9.1COCH, MYO7A, PCDH15, USH1C
14pierre robin syndrome8.9MYO7A, PCDH15, USH1C, USH1G
15deafness, autosomal recessive 28.9MYO7A, PCDH15, USH1C, USH1G
16x-linked hypophosphatemic rickets8.8MYO7A, PCDH15, USH1C, USH1G
17scar contracture8.6MYO7A, PCDH15, USH1C, USH1G
18deafness, autosomal recessive 237.9CAMK2G, COCH, MYO7A, PCDH15, USH1C, USH1G

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 rod-cone dystrophy HP:0000510
2 motor delay HP:0001270
3 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 1f25
2 Usher Syndrome Type 1f23 PCDH15

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2MYO7A, PCDH15, USH1C, USH1G
2MP:00053777.8COCH, 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 of the protocadherin gene PCDH15 cause Usher syndrome type 1F. (11398101)
2001
3
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. (11487575)
2001

Variations for Usher Syndrome, Type 1f

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

68
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 14)
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 pathogenicrs748706627GRCh38Chr 10, 53866641: 53866641
4PCDH15NM_033056.3(PCDH15): c.(?_3374)_(3501_?)del (p.(?))deletionPathogenic
5PCDH15NM_033056.3(PCDH15): c.3358C> T (p.Arg1120Ter)single nucleotide variantPathogenicrs773404494GRCh37Chr 10, 55698590: 55698590
6PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
7PCDH15NM_033056.3(PCDH15): c.1998-2A> Gsingle nucleotide variantPathogenicrs397517452GRCh37Chr 10, 55839186: 55839186
8PCDH15NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter)single nucleotide variantLikely pathogenic, Pathogenicrs202033121GRCh37Chr 10, 55698632: 55698632
9PCDH15PCDH15, IVS27, A-G, -2single nucleotide variantPathogenic
10PCDH15NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter)single nucleotide variantLikely pathogenic, Pathogenicrs137853001GRCh37Chr 10, 56424016: 56424016
11PCDH15NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs)deletionPathogenicrs199469706GRCh37Chr 10, 55973708: 55973708
12PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
13PCDH15PCDH15, 3-BP DEL, 5601AACdeletionPathogenic
14PCDH15NM_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
1microvillusGO:00059029.7MYO7A, USH1C
2photoreceptor connecting ciliumGO:00323919.7MYO7A, USH1G
3photoreceptor outer segmentGO:00017509.4MYO7A, PCDH15, USH1C
4stereociliumGO:00324209.1MYO7A, PCDH15, USH1C
5synapseGO:00452028.7MYO7A, PCDH15, USH1C
6photoreceptor inner segmentGO:00019178.6MYO7A, 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 differentiationGO:004249110.1MYO7A, PCDH15
2auditory receptor cell stereocilium organizationGO:006008810.0MYO7A, PCDH15
3inner ear developmentGO:00488399.7MYO7A, PCDH15
4inner ear receptor cell differentiationGO:00601139.4MYO7A, USH1G
5inner ear receptor stereocilium organizationGO:00601229.1MYO7A, PCDH15, USH1G
6inner ear morphogenesisGO:00424728.9MYO7A, USH1G
7photoreceptor cell maintenanceGO:00454948.6PCDH15, USH1C, USH1G
8sensory perception of light stimulusGO:00509538.5MYO7A, PCDH15, USH1C, USH1G
9equilibrioceptionGO:00509578.5MYO7A, PCDH15, 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:00305078.8MYO7A, USH1C, USH1G
4protein homodimerization activityGO:00428038.7CAMK2G, MYO7A, USH1G

Sources for Usher Syndrome, Type 1f

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet