USH1F
MCID: USH010
MIFTS: 37

Usher Syndrome, Type 1f (USH1F) 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 11 48 24 70
Usher Syndrome Type 1f 11 24 13
Usher's Syndrome Type 1f 70 27
 
Usher Syndrome Type if 11 70
Usher Syndrome, Type if 68
Usher Syndrome 1f 70

Characteristics:

HPO:

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

Classifications:



External Ids:

OMIM52 602083
Disease Ontology11 DOID:0110832
ICD1030 H35.5
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.

Disease Ontology:11 An Usher syndrome type 1 that has material basis in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q.

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 2 Usher Syndrome Type 1h
Usher Syndrome, Type 2b

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

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1b10.9
2usher syndrome10.2
3charcot-marie-tooth disease, type 1d10.1MYO7A, PCDH15
4die smulders droog van dijk syndrome10.1MYO7A, PCDH15
5deafness, autosomal dominant 2a10.1COCH, PCDH15
6ullrich congenital muscular dystrophy 210.1COCH, MYO7A
7bartter syndrome, type 110.1COCH, MYO7A
8autosomal dominant nonsyndromic deafness 6910.0COCH, MYO7A
9fibrochondrogenesis 210.0COCH, MYO7A
10cockayne syndrome10.0COCH, MYO7A
11telangiectasia macularis eruptiva perstans10.0COCH, MYO7A
12duodenum cancer10.0COCH, MYO7A
13adult liposarcoma9.9MYO7A, PCDH15
14autosomal dominant nonsyndromic deafness 689.9USH1C, USH1G
15x-linked nonsyndromic deafness9.9COCH, MYO7A, PCDH15
16deafness, autosomal recessive 239.8MYO7A, PCDH15, USH1C
17mitochondrial non-syndromic sensorineural deafness9.8MYO7A, PCDH15, USH1C
18obesity susceptibility, adrb3-related9.8COCH, MYO7A, USH1C
19trichomoniasis9.7MYO7A, PCDH15, USH1C
20fanconi anemia, complementation group f9.7MYO7A, USH1C, USH1G
21polyhydramnios9.7MYO7A, USH1C
22narcissistic personality disorder9.6COCH, MYO7A, PCDH15, USH1C
23pierre robin syndrome9.6MYO7A, PCDH15, USH1C, USH1G
2446xy sex reversal 39.6MYO7A, PCDH15, USH1C, USH1G
25dyskeratosis congenita, autosomal dominant 19.6MYO7A, PCDH15, USH1C, USH1G
26peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads9.6MYO7A, PCDH15, USH1C, USH1G
27xeroderma pigmentosum group e9.6MYO7A, PCDH15, USH1C, USH1G
28deafness, autosomal dominant 119.6MYO7A, PCDH15, USH1C, USH1G
29lissencephaly9.6MYO7A, PCDH15, USH1C, USH1G
30sertoli cell-only syndrome9.5MYO7A, PCDH15, USH1C, USH1G
31cardiomyopathy, dilated, 1kk9.4COCH, MYO7A, PCDH15, USH1C, USH1G

Graphical network of the top 20 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-A9.4COCH, PCDH15, USH1C

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.3COCH, MYO7A, PCDH15, USH1C, USH1G
2MP:00053918.1MYO7A, 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)SNVPathogenicrs727504301GRCh38Chr 10, 54090054: 54090054
3PCDH15NM_ 033056.3(PCDH15): c.3717+1G> ASNVLikely pathogenicrs748706627GRCh37Chr 10, 55626401: 55626401
4PCDH15NM_ 001142772.1(PCDH15): c.400C> T (p.Arg134Ter)SNVPathogenic/ Likely 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(PCDH15): c.3441dupA (p.Phe1148Ilefs)duplicationLikely pathogenicrs770832663GRCh37Chr 10, 55663063: 55663063
8PCDH15NM_ 033056.3(PCDH15): c.3653delT (p.Phe1218Serfs)deletionLikely pathogenicrs1057516268GRCh37Chr 10, 55626466: 55626466
9PCDH15NM_ 033056.3(PCDH15): c.2624C> A (p.Ser875Ter)SNVLikely pathogenicrs201328768GRCh37Chr 10, 55780079: 55780079
10PCDH15NM_ 033056.3(PCDH15): c.2785C> T (p.Arg929Ter)SNVLikely pathogenicrs1057516342GRCh37Chr 10, 55755492: 55755492
11PCDH15NM_ 033056.3(PCDH15): c.4313delC (p.Pro1438Argfs)deletionLikely pathogenicrs1057516351GRCh37Chr 10, 55587207: 55587207
12PCDH15NM_ 033056.3(PCDH15): c.1305+1G> ASNVLikely pathogenicrs758947077GRCh37Chr 10, 55955442: 55955442
13PCDH15NM_ 033056.3(PCDH15): c.1006C> T (p.Arg336Ter)SNVLikely pathogenicrs370261904GRCh38Chr 10, 54214028: 54214028
14PCDH15NM_ 033056.3(PCDH15): c.594+1G> TSNVLikely pathogenicrs1057516470GRCh37Chr 10, 56106124: 56106124
15PCDH15NM_ 033056.3(PCDH15): c.4227T> A (p.Cys1409Ter)SNVLikely pathogenicrs1057516472GRCh38Chr 10, 53827533: 53827533
16PCDH15NM_ 033056.3(PCDH15): c.1785-2A> CSNVLikely pathogenicrs1057516474GRCh37Chr 10, 55892769: 55892769
17PCDH15NM_ 033056.3(PCDH15): c.2487dupA (p.Glu830Argfs)duplicationLikely pathogenicrs757027638GRCh38Chr 10, 54022931: 54022931
18PCDH15NM_ 033056.3(PCDH15): c.4368-2A> TSNVLikely pathogenicrs989521806GRCh38Chr 10, 53823360: 53823360
19PCDH15NM_ 033056.3(PCDH15): c.4368-15_ 4368-2del14deletionLikely pathogenicrs1057516560GRCh38Chr 10, 53823360: 53823373
20PCDH15NM_ 033056.3(PCDH15): c.4367+1G> ASNVLikely pathogenicrs1057516613GRCh37Chr 10, 55587152: 55587152
21PCDH15NM_ 033056.3(PCDH15): c.3341delT (p.Val1114Glyfs)deletionLikely pathogenicrs1057516656GRCh38Chr 10, 53938847: 53938847
22PCDH15NM_ 033056.3(PCDH15): c.3983+1G> TSNVLikely pathogenicrs758921360GRCh38Chr 10, 53840319: 53840319
23PCDH15NM_ 033056.3(PCDH15): c.157+1G> CSNVLikely pathogenicrs1057516770GRCh38Chr 10, 54527811: 54527811
24PCDH15NM_ 033056.3(PCDH15): c.3885_ 3889dupAGATG (p.Ala1297Glufs)duplicationLikely pathogenicrs1057516780GRCh38Chr 10, 53840414: 53840418
25PCDH15NM_ 033056.3(PCDH15): c.2825delG (p.Gly942Valfs)deletionLikely pathogenicrs758685587GRCh37Chr 10, 55755452: 55755452
26PCDH15NM_ 033056.3(PCDH15): c.4197_ 4198insGTAG (p.Arg1400Valfs)insertionLikely pathogenicrs1057516821GRCh38Chr 10, 53831319: 53831320
27PCDH15NM_ 033056.3(PCDH15): c.1627delG (p.Glu543Argfs)deletionLikely pathogenicrs1057516892GRCh38Chr 10, 54153257: 54153257
28PCDH15NM_ 033056.3(PCDH15): c.2419dupA (p.Ile807Asnfs)duplicationLikely pathogenicrs781148814GRCh38Chr 10, 54022999: 54022999
29PCDH15NM_ 033056.3(PCDH15): c.3211delA (p.Ile1071Leufs)deletionLikely pathogenicrs1057516974GRCh37Chr 10, 55700647: 55700647
30PCDH15NM_ 033056.3(PCDH15): c.333dupA (p.His112Thrfs)duplicationLikely pathogenicrs1057516992GRCh37Chr 10, 56129021: 56129021
31PCDH15NM_ 033056.3(PCDH15): c.901dupA (p.Thr301Asnfs)duplicationLikely pathogenicrs1057517048GRCh37Chr 10, 55996667: 55996667
32PCDH15NM_ 033056.3(PCDH15): c.1770_ 1771delTC (p.Pro591Cysfs)deletionLikely pathogenicrs1057517150GRCh37Chr 10, 55912873: 55912874
33PCDH15NM_ 033056.3(PCDH15): c.416_ 444del29 (p.Asp139Alafs)deletionLikely pathogenicrs1057517182GRCh37Chr 10, 56128910: 56128938
34PCDH15NM_ 033056.3(PCDH15): c.1737C> G (p.Tyr579Ter)SNVLikely pathogenicrs1057517251GRCh37Chr 10, 55912907: 55912907
35PCDH15NM_ 033056.3(PCDH15): c.1830_ 1833delTCAA (p.Asn610Lysfs)deletionLikely pathogenicrs1057517261GRCh38Chr 10, 54132959: 54132962
36PCDH15NM_ 033056.3(PCDH15): c.358_ 359delTG (p.Cys120Hisfs)deletionLikely pathogenicrs1057517264GRCh38Chr 10, 54369235: 54369236
37PCDH15NM_ 033056.3(PCDH15): c.1915C> T (p.Gln639Ter)SNVLikely pathogenicrs138983888GRCh38Chr 10, 54132877: 54132877
38PCDH15NM_ 033056.3(PCDH15): c.3023delC (p.Ala1008Valfs)deletionLikely pathogenicrs1057517284GRCh38Chr 10, 53959831: 53959831
39PCDH15NM_ 033056.3(PCDH15): c.3082delC (p.His1028Ilefs)deletionLikely pathogenicrs1057517325GRCh37Chr 10, 55719532: 55719532
40PCDH15NM_ 033056.3(PCDH15): c.4211+2dupTduplicationLikely pathogenicrs1057517419GRCh38Chr 10, 53828563: 53828563
41PCDH15NM_ 033056.3(PCDH15): c.1806T> G (p.Tyr602Ter)SNVLikely pathogenicrs1057517443GRCh37Chr 10, 55892746: 55892746
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)SNVPathogenic/ Likely pathogenicrs202033121GRCh37Chr 10, 55698632: 55698632
45PCDH15PCDH15, IVS27, A-G, -2SNVPathogenic
46PCDH15NM_ 033056.3(PCDH15): c.7C> T (p.Arg3Ter)SNVPathogenic/ Likely 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, 5601AACdeletionPathogenic
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
1photoreceptor connecting ciliumGO:003239110.0MYO7A, USH1G
2microvillusGO:00059029.8MYO7A, USH1C
3photoreceptor outer segmentGO:00017509.3MYO7A, PCDH15, USH1C
4stereociliumGO:00324209.3MYO7A, PCDH15, USH1C
5photoreceptor inner segmentGO:00019179.2MYO7A, USH1C, USH1G
6synapseGO:00452028.7MYO7A, PCDH15, USH1C

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell stereocilium organizationGO:006008810.1MYO7A, PCDH15
2inner ear developmentGO:004883910.1MYO7A, PCDH15
3inner ear receptor cell differentiationGO:00601139.9MYO7A, USH1G
4actin filament bundle assemblyGO:00510179.8PCDH15, USH1C
5auditory receptor cell differentiationGO:00424919.3MYO7A, PCDH15, USH1C
6photoreceptor cell maintenanceGO:00454949.1PCDH15, USH1C, USH1G
7inner ear morphogenesisGO:00424729.1MYO7A, USH1C, USH1G
8equilibrioceptionGO:00509578.7MYO7A, PCDH15, USH1C, USH1G
9inner ear receptor stereocilium organizationGO:00601228.6MYO7A, PCDH15, USH1C, USH1G
10sensory perception of light stimulusGO:00509538.6MYO7A, PCDH15, USH1C, USH1G
11sensory perception of soundGO:00076057.5COCH, 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:00510159.7MYO7A, USH1C
3spectrin bindingGO:00305078.5MYO7A, 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