MCID: USH010
MIFTS: 36

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 52 48 12
Ush1f 48 24 70
Usher's Syndrome Type 1f 70 27
Usher Syndrome, Type if 68
 
Usher Syndrome Type if 70
Usher Syndrome Type 1f 24
Usher Syndrome 1f 70

Characteristics:

HPO:

64
usher syndrome, type 1f:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 602083
MedGen37 C1865885
MeSH39 D052245

Summaries for Usher Syndrome, Type 1f

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UniProtKB/Swiss-Prot:70 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.

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 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 Synthetic lethal with vaccinia virus (VACV) infection and hearing/vestibular/ear.

NIH Rare Diseases:48 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

OMIM:52 Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy... (602083) more...

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 17)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1b10.9
2usher syndrome10.2
3continuous spike-wave during slow sleep syndrome10.1MYO7A, PCDH15
4ovarian embryonal carcinoma10.0MYO7A, PCDH15
5deafness, autosomal recessive 129.9PCDH15, 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 18a9.3MYO7A, USH1C, USH1G
13pyelitis9.2COCH, MYO7A, PCDH15, USH1C
14pierre robin syndrome9.0MYO7A, PCDH15, USH1C, USH1G
15deafness, autosomal recessive 28.9MYO7A, PCDH15, USH1C, USH1G
16scar contracture8.8MYO7A, PCDH15, USH1C, USH1G
17deafness, autosomal recessive 238.1CAMK2G, COCH, MYO7A, PCDH15, USH1C, USH1G

Graphical network of diseases related to Usher Syndrome, Type 1f:



Diseases related to usher syndrome, type 1f

Symptoms & Phenotypes for Usher Syndrome, Type 1f

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Symptoms by clinical synopsis from OMIM:

602083

Clinical features from OMIM:

602083

Human phenotypes related to Usher Syndrome, Type 1f:

 64
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy64 HP:0000510
2 motor delay64 HP:0001270
3 congenital sensorineural hearing impairment64 HP:0008527

GenomeRNAi Phenotypes related to Usher Syndrome, Type 1f according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00362-A9.6COCH, PCDH15, USH1C

MGI Mouse Phenotypes related to Usher Syndrome, Type 1f according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.4COCH, MYO7A, PCDH15, USH1C, USH1G
2MP:00053918.2MYO7A, PCDH15, USH1C, USH1G

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 1f27
2 Usher Syndrome Type 1f24 PCDH15

Anatomical Context for Usher Syndrome, Type 1f

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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:

70
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 50)
id Gene Variation Type Significance SNP ID Assembly Location
1PCDH15NC_000010.11: g.(?_54317271)_(54664277_?)deldeletionPathogenicGRCh37Chr 10, 56077031: 56424037
2PCDH15NM_033056.3(PCDH15): c.1927C> T (p.Arg643Ter)SNVPathogenicrs727504301GRCh37Chr 10, 55849814: 55849814
3PCDH15NM_033056.3(PCDH15): c.3717+1G> ASNVLikely pathogenicrs748706627GRCh37Chr 10, 55626401: 55626401
4PCDH15NM_001142772.1(PCDH15): c.400C> T (p.Arg134Ter)SNVLikely pathogenic, Pathogenicrs137853003GRCh37Chr 10, 56128954: 56128954
5PCDH15NM_033056.3(PCDH15): c.(?_3374)_(3501_?)del (p.(?))deletionPathogenicGRCh37Chr 10, 55663003: 55663130
6PCDH15NM_033056.3(PCDH15): c.3358C> T (p.Arg1120Ter)SNVPathogenicrs773404494GRCh37Chr 10, 55698590: 55698590
7PCDH15NM_033056.3: c.3441dupAduplicationLikely pathogenicChr na, -1: -1
8PCDH15NM_033056.3: c.3653delTdeletionLikely pathogenicChr na, -1: -1
9PCDH15NM_033056.3: c.2624C> ASNVLikely pathogenicChr na, -1: -1
10PCDH15NM_033056.3: c.2785C> TSNVLikely pathogenicChr na, -1: -1
11PCDH15NM_033056.3: c.4313delCdeletionLikely pathogenicChr na, -1: -1
12PCDH15NM_033056.3: c.1305+1G> ASNVLikely pathogenicChr na, -1: -1
13PCDH15NM_033056.3: c.1006C> TSNVLikely pathogenicChr na, -1: -1
14PCDH15NM_033056.3: c.594+1G> TSNVLikely pathogenicChr na, -1: -1
15PCDH15NM_033056.3: c.4227T> ASNVLikely pathogenicChr na, -1: -1
16PCDH15NM_033056.3: c.1785-2A> CSNVLikely pathogenicChr na, -1: -1
17PCDH15NM_033056.3: c.2487dupAduplicationLikely pathogenicChr na, -1: -1
18PCDH15NM_033056.3: c.4368-2A> TSNVLikely pathogenicChr na, -1: -1
19PCDH15NM_033056.3: c.4368-15_4368-2del14deletionLikely pathogenicChr na, -1: -1
20PCDH15NM_033056.3: c.4367+1G> ASNVLikely pathogenicChr na, -1: -1
21PCDH15NM_033056.3: c.3341delTdeletionLikely pathogenicChr na, -1: -1
22PCDH15NM_033056.3: c.3983+1G> TSNVLikely pathogenicChr na, -1: -1
23PCDH15NM_033056.3: c.157+1G> CSNVLikely pathogenicChr na, -1: -1
24PCDH15NM_033056.3: c.3885_3889dup5duplicationLikely pathogenicChr na, -1: -1
25PCDH15NM_033056.3: c.2825delGdeletionLikely pathogenicChr na, -1: -1
26PCDH15NM_033056.3: c.4197_4198insGTAGinsertionLikely pathogenicChr na, -1: -1
27PCDH15NM_033056.3: c.1627delGdeletionLikely pathogenicChr na, -1: -1
28PCDH15NM_033056.3: c.2419dupAduplicationLikely pathogenicChr na, -1: -1
29PCDH15NM_033056.3: c.3211delAdeletionLikely pathogenicChr na, -1: -1
30PCDH15NM_033056.3: c.333dupAduplicationLikely pathogenicChr na, -1: -1
31PCDH15NM_033056.3: c.901dupAduplicationLikely pathogenicChr na, -1: -1
32PCDH15NM_033056.3: c.1770_1771delTCdeletionLikely pathogenicChr na, -1: -1
33PCDH15NM_033056.3: c.416_444del29deletionLikely pathogenicChr na, -1: -1
34PCDH15NM_033056.3: c.1737C> GSNVLikely pathogenicChr na, -1: -1
35PCDH15NM_033056.3: c.1830_1833delTCAAdeletionLikely pathogenicChr na, -1: -1
36PCDH15NM_033056.3: c.358_359delTGdeletionLikely pathogenicChr na, -1: -1
37PCDH15NM_033056.3: c.1915C> TSNVLikely pathogenicChr na, -1: -1
38PCDH15NM_033056.3: c.3023delCdeletionLikely pathogenicChr na, -1: -1
39PCDH15NM_033056.3: c.3082delCdeletionLikely pathogenicChr na, -1: -1
40PCDH15NM_033056.3: c.4211+2dupTduplicationLikely pathogenicChr na, -1: -1
41PCDH15NM_033056.3: c.1806T> GSNVLikely pathogenicChr na, -1: -1
42PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
43PCDH15NM_033056.3(PCDH15): c.1998-2A> GSNVPathogenicrs397517452GRCh37Chr 10, 55839186: 55839186
44PCDH15NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter)SNVLikely pathogenic, Pathogenicrs202033121GRCh37Chr 10, 55698632: 55698632
45PCDH15PCDH15, IVS27, A-G, -2SNVPathogenicChr na, -1: -1
46PCDH15NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter)SNVLikely pathogenic, Pathogenicrs137853001GRCh37Chr 10, 56424016: 56424016
47PCDH15NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs)deletionPathogenicrs199469706GRCh37Chr 10, 55973708: 55973708
48PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)SNVPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
49PCDH15PCDH15, 3-BP DEL, 5601AACdeletionPathogenicChr na, -1: -1
50PCDH15NM_033056.3(PCDH15): c.1940C> G (p.Ser647Ter)SNVPathogenicrs137853004GRCh37Chr 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:000590210.1MYO7A, USH1C
2photoreceptor connecting ciliumGO:00323919.9MYO7A, USH1G
3photoreceptor outer segmentGO:00017509.6MYO7A, PCDH15, USH1C
4stereociliumGO:00324209.6MYO7A, PCDH15, USH1C
5photoreceptor inner segmentGO:00019179.2MYO7A, USH1C, USH1G
6synapseGO:00452029.0MYO7A, PCDH15, USH1C

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:004249110.2MYO7A, PCDH15
2auditory receptor cell stereocilium organizationGO:006008810.2MYO7A, PCDH15
3inner ear developmentGO:004883910.2MYO7A, PCDH15
4inner ear morphogenesisGO:00424729.8MYO7A, USH1G
5inner ear receptor cell differentiationGO:00601139.8MYO7A, USH1G
6inner ear receptor stereocilium organizationGO:00601229.4MYO7A, PCDH15, USH1G
7photoreceptor cell maintenanceGO:00454949.2PCDH15, USH1C, USH1G
8equilibrioceptionGO:00509578.8MYO7A, PCDH15, USH1C, USH1G
9sensory perception of light stimulusGO:00509538.7MYO7A, 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
1actin filament bindingGO:005101510.1MYO7A, USH1C
2protein N-terminus bindingGO:004748510.0MYO7A, PCDH15
3protein homodimerization activityGO:00428039.2CAMK2G, MYO7A, USH1G
4spectrin bindingGO:00305078.6MYO7A, USH1C, USH1G

Sources for Usher Syndrome, Type 1f

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet