MCID: USH010
MIFTS: 37

Usher Syndrome, Type 1f

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

Aliases & Classifications for Usher Syndrome, Type 1f

MalaCards integrated aliases for Usher Syndrome, Type 1f:

Name: Usher Syndrome, Type 1f 54 50 29 13
Ush1f 12 50 24 71
Usher Syndrome Type 1f 12 24 14
Usher Syndrome Type if 12 71
Usher's Syndrome Type 1f 71
Usher Syndrome, Type if 69
Usher Syndrome 1f 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
allelic to deafness, autosomal recessive 23
digenic form type id/f caused by digenic mutation in the cdh23 (605516}) and pcdh15 genes


HPO:

32
usher syndrome, type 1f:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 602083
Disease Ontology 12 DOID:0110832
ICD10 33 H35.5
MedGen 40 C1865885
MeSH 42 D052245

Summaries for Usher Syndrome, Type 1f

UniProtKB/Swiss-Prot : 71 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 and diabetes persistent mullerian ducts, and has symptoms including motor delay, rod-cone dystrophy and congenital sensorineural hearing impairment. An important gene associated with Usher Syndrome, Type 1f is PCDH15 (Protocadherin Related 15). Related phenotypes are Synthetic lethal with vaccinia virus (VACV) infection and hearing/vestibular/ear

Disease Ontology : 12 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 : 54
Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I (276900) have congenital severe to profound hearing loss and vestibular dysfunction. (602083)

Related Diseases for Usher Syndrome, Type 1f

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 32)
id Related Disease Score Top Affiliating Genes
1 usher syndrome 10.2
2 diabetes persistent mullerian ducts 10.2 MYO7A PCDH15
3 hyperphenylalaninemia, mild, non-bh4-deficient 10.2 MYO7A PCDH15
4 deafness, autosomal recessive 37 10.1 COCH MYO7A
5 x-linked nonsyndromic deafness 10.1 COCH MYO7A
6 deafness, autosomal dominant 2a 10.1 COCH PCDH15
7 microcephaly and chorioretinopathy, autosomal recessive, 3 10.1 COCH MYO7A
8 congenital muscular dystrophy due to lmna mutation 10.0 COCH MYO7A
9 nodular lichen myxedematosus 9.9 COCH MYO7A
10 deafness, autosomal recessive 53 9.9 COCH MYO7A
11 mixed lacrimal gland cancer 9.8 COCH MYO7A
12 dihydrolipoamide dehydrogenase deficiency 9.7 COCH MYO7A
13 whipple disease 9.7 MYO7A USH1C
14 narcissistic personality disorder 9.7 COCH MYO7A PCDH15
15 autosomal dominant nonsyndromic deafness 69 9.6 USH1C USH1G
16 pituitary adenoma 9.6 MYO7A PCDH15 USH1C
17 discrete papular lichen myxedematosus 9.6 MYO7A PCDH15 USH1C
18 hereditary breast ovarian cancer 9.6 MYO7A PCDH15 USH1C
19 endometritis 9.5 COCH MYO7A
20 trichomoniasis 9.4 MYO7A PCDH15 USH1C
21 deafness, autosomal recessive 18a 9.2 MYO7A USH1C USH1G
22 amelogenesis imperfecta, type ig 8.8 MYO7A PCDH15 USH1C USH1G
23 deafness, autosomal recessive 12 8.8 MYO7A PCDH15 USH1C USH1G
24 asthma-related traits 8 8.8 MYO7A PCDH15 USH1C USH1G
25 retinitis pigmentosa 61 8.8 MYO7A PCDH15 USH1C USH1G
26 trichohepatoenteric syndrome 1 8.8 MYO7A PCDH15 USH1C USH1G
27 usher syndrome type 1h 8.8 MYO7A PCDH15 USH1C USH1G
28 deafness, autosomal recessive 2 8.8 MYO7A PCDH15 USH1C USH1G
29 brugada syndrome 8.8 MYO7A PCDH15 USH1C USH1G
30 scar contracture 8.7 MYO7A PCDH15 USH1C USH1G
31 deafness, autosomal recessive 23 8.3 COCH MYO7A PCDH15 USH1C USH1G
32 autosomal recessive nonsyndromic deafness 8.3 COCH 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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
retinitis pigmentosa

Head And Neck- Ears:
hearing loss, sensorineural, profound congenital

Neurologic- Central Nervous System:
delayed motor milestones


Clinical features from OMIM:

602083

Human phenotypes related to Usher Syndrome, Type 1f:

32
id Description HPO Frequency HPO Source Accession
1 motor delay 32 HP:0001270
2 rod-cone dystrophy 32 HP:0000510
3 congenital sensorineural hearing impairment 32 HP:0008527

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.8 COCH PCDH15 USH1C

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.35 COCH MYO7A PCDH15 USH1C USH1G
2 vision/eye MP:0005391 8.92 MYO7A PCDH15 USH1C USH1G

Drugs & Therapeutics for Usher Syndrome, Type 1f

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

Genetic Tests for Usher Syndrome, Type 1f

Genetic tests related to Usher Syndrome, Type 1f:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1f 29
2 Usher Syndrome Type 1f 24 PCDH15

Anatomical Context for Usher Syndrome, Type 1f

Publications for Usher Syndrome, Type 1f

Articles related to Usher Syndrome, Type 1f:

id Title Authors Year
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

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

71
id Symbol AA change Variation ID SNP ID
1 PCDH15 p.Gln1342Lys VAR_024037 rs61731387
2 PCDH15 p.Arg134Gln VAR_071696

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

6 (show all 50)
id Gene Variation Type Significance SNP ID Assembly Location
1 PCDH15 PCDH15, IVS27, A-G, -2 single nucleotide variant Pathogenic
2 PCDH15 NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137853001 GRCh37 Chromosome 10, 56424016: 56424016
3 PCDH15 NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs) deletion Pathogenic rs199469706 GRCh37 Chromosome 10, 55973708: 55973708
4 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
5 PCDH15 PCDH15, 3-BP DEL, 5601AAC deletion Pathogenic
6 PCDH15 NM_033056.3(PCDH15): c.1940C> G (p.Ser647Ter) single nucleotide variant Pathogenic rs137853004 GRCh37 Chromosome 10, 55849801: 55849801
7 PCDH15 NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs) deletion Pathogenic rs397517451 GRCh37 Chromosome 10, 56424007: 56424007
8 PCDH15 NM_033056.3(PCDH15): c.1998-2A> G single nucleotide variant Pathogenic rs397517452 GRCh37 Chromosome 10, 55839186: 55839186
9 PCDH15 NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202033121 GRCh37 Chromosome 10, 55698632: 55698632
10 PCDH15 NC_000010.11: g.(?_54317271)_(54664277_?)del deletion Pathogenic GRCh37 Chromosome 10, 56077031: 56424037
11 PCDH15 NM_033056.3(PCDH15): c.1927C> T (p.Arg643Ter) single nucleotide variant Pathogenic rs727504301 GRCh37 Chromosome 10, 55849814: 55849814
12 PCDH15 NM_033056.3(PCDH15): c.3717+1G> A single nucleotide variant Likely pathogenic rs748706627 GRCh37 Chromosome 10, 55626401: 55626401
13 PCDH15 NM_001142772.1(PCDH15): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137853003 GRCh37 Chromosome 10, 56128954: 56128954
14 PCDH15 NM_033056.3(PCDH15): c.(?_3374)_(3501_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome 10, 55663003: 55663130
15 PCDH15 NM_033056.3(PCDH15): c.3358C> T (p.Arg1120Ter) single nucleotide variant Pathogenic rs773404494 GRCh37 Chromosome 10, 55698590: 55698590
16 PCDH15 NM_033056.3(PCDH15): c.4368-2A> T single nucleotide variant Likely pathogenic rs989521806 GRCh38 Chromosome 10, 53823360: 53823360
17 PCDH15 NM_033056.3(PCDH15): c.4368-15_4368-2del14 deletion Likely pathogenic rs1057516560 GRCh37 Chromosome 10, 55583120: 55583133
18 PCDH15 NM_033056.3(PCDH15): c.4367+1G> A single nucleotide variant Likely pathogenic rs1057516613 GRCh37 Chromosome 10, 55587152: 55587152
19 PCDH15 NM_033056.3(PCDH15): c.4313delC (p.Pro1438Argfs) deletion Likely pathogenic rs1057516351 GRCh37 Chromosome 10, 55587207: 55587207
20 PCDH15 NM_033056.3(PCDH15): c.4227T> A (p.Cys1409Ter) single nucleotide variant Likely pathogenic rs1057516472 GRCh37 Chromosome 10, 55587293: 55587293
21 PCDH15 NM_033056.3(PCDH15): c.4211+2dupT duplication Likely pathogenic rs1057517419 GRCh38 Chromosome 10, 53828563: 53828563
22 PCDH15 NM_033056.3(PCDH15): c.4197_4198insGTAG (p.Arg1400Valfs) insertion Likely pathogenic rs1057516821 GRCh37 Chromosome 10, 55591079: 55591080
23 PCDH15 NM_033056.3(PCDH15): c.3983+1G> T single nucleotide variant Likely pathogenic rs758921360 GRCh38 Chromosome 10, 53840319: 53840319
24 PCDH15 NM_033056.3(PCDH15): c.3885_3889dup (p.Ala1297Glufs) duplication Likely pathogenic rs1057516780 GRCh37 Chromosome 10, 55600174: 55600178
25 PCDH15 NM_033056.3(PCDH15): c.3653delT (p.Phe1218Serfs) deletion Likely pathogenic rs1057516268 GRCh37 Chromosome 10, 55626466: 55626466
26 PCDH15 NM_033056.3(PCDH15): c.3441dupA (p.Phe1148Ilefs) duplication Likely pathogenic rs770832663 GRCh37 Chromosome 10, 55663063: 55663063
27 PCDH15 NM_033056.3(PCDH15): c.3341delT (p.Val1114Glyfs) deletion Likely pathogenic rs1057516656 GRCh38 Chromosome 10, 53938847: 53938847
28 PCDH15 NM_033056.3(PCDH15): c.3211delA (p.Ile1071Leufs) deletion Likely pathogenic rs1057516974 GRCh37 Chromosome 10, 55700647: 55700647
29 PCDH15 NM_033056.3(PCDH15): c.3082delC (p.His1028Ilefs) deletion Likely pathogenic rs1057517325 GRCh37 Chromosome 10, 55719532: 55719532
30 PCDH15 NM_033056.3(PCDH15): c.3023delC (p.Ala1008Valfs) deletion Likely pathogenic rs1057517284 GRCh37 Chromosome 10, 55719591: 55719591
31 PCDH15 NM_033056.3(PCDH15): c.2825delG (p.Gly942Valfs) deletion Likely pathogenic rs758685587 GRCh38 Chromosome 10, 53995692: 53995692
32 PCDH15 NM_033056.3(PCDH15): c.2785C> T (p.Arg929Ter) single nucleotide variant Likely pathogenic rs1057516342 GRCh37 Chromosome 10, 55755492: 55755492
33 PCDH15 NM_033056.3(PCDH15): c.2624C> A (p.Ser875Ter) single nucleotide variant Likely pathogenic rs201328768 GRCh37 Chromosome 10, 55780079: 55780079
34 PCDH15 NM_033056.3(PCDH15): c.2487dupA (p.Glu830Argfs) duplication Likely pathogenic rs757027638 GRCh38 Chromosome 10, 54022931: 54022931
35 PCDH15 NM_033056.3(PCDH15): c.2419dupA (p.Ile807Asnfs) duplication Likely pathogenic rs781148814 GRCh38 Chromosome 10, 54022999: 54022999
36 PCDH15 NM_033056.3(PCDH15): c.1915C> T (p.Gln639Ter) single nucleotide variant Likely pathogenic rs138983888 GRCh38 Chromosome 10, 54132877: 54132877
37 PCDH15 NM_033056.3(PCDH15): c.1830_1833delTCAA (p.Asn610Lysfs) deletion Likely pathogenic rs1057517261 GRCh37 Chromosome 10, 55892719: 55892722
38 PCDH15 NM_033056.3(PCDH15): c.1806T> G (p.Tyr602Ter) single nucleotide variant Likely pathogenic rs1057517443 GRCh37 Chromosome 10, 55892746: 55892746
39 PCDH15 NM_033056.3(PCDH15): c.1785-2A> C single nucleotide variant Likely pathogenic rs1057516474 GRCh37 Chromosome 10, 55892769: 55892769
40 PCDH15 NM_033056.3(PCDH15): c.1770_1771delTC (p.Pro591Cysfs) deletion Likely pathogenic rs1057517150 GRCh37 Chromosome 10, 55912873: 55912874
41 PCDH15 NM_033056.3(PCDH15): c.1737C> G (p.Tyr579Ter) single nucleotide variant Likely pathogenic rs1057517251 GRCh37 Chromosome 10, 55912907: 55912907
42 PCDH15 NM_033056.3(PCDH15): c.1627delG (p.Glu543Argfs) deletion Likely pathogenic rs1057516892 GRCh38 Chromosome 10, 54153257: 54153257
43 PCDH15 NM_033056.3(PCDH15): c.1305+1G> A single nucleotide variant Likely pathogenic rs758947077 GRCh37 Chromosome 10, 55955442: 55955442
44 PCDH15 NM_033056.3(PCDH15): c.1006C> T (p.Arg336Ter) single nucleotide variant Likely pathogenic rs370261904 GRCh38 Chromosome 10, 54214028: 54214028
45 PCDH15 NM_033056.3(PCDH15): c.901dupA (p.Thr301Asnfs) duplication Likely pathogenic rs1057517048 GRCh38 Chromosome 10, 54236907: 54236907
46 PCDH15 NM_033056.3(PCDH15): c.594+1G> T single nucleotide variant Likely pathogenic rs1057516470 GRCh37 Chromosome 10, 56106124: 56106124
47 PCDH15 NM_033056.3(PCDH15): c.416_444del29 (p.Asp139Alafs) deletion Likely pathogenic rs1057517182 GRCh37 Chromosome 10, 56128910: 56128938
48 PCDH15 NM_033056.3(PCDH15): c.358_359delTG (p.Cys120Hisfs) deletion Likely pathogenic rs1057517264 GRCh38 Chromosome 10, 54369235: 54369236
49 PCDH15 NM_033056.3(PCDH15): c.333dupA (p.His112Thrfs) duplication Likely pathogenic rs1057516992 GRCh37 Chromosome 10, 56129021: 56129021
50 PCDH15 NM_033056.3(PCDH15): c.157+1G> C single nucleotide variant Likely pathogenic rs1057516770 GRCh38 Chromosome 10, 54527811: 54527811

Expression for Usher Syndrome, Type 1f

Search GEO for disease gene expression data for Usher Syndrome, Type 1f.

Pathways for Usher Syndrome, Type 1f

GO Terms for Usher Syndrome, Type 1f

Cellular components related to Usher Syndrome, Type 1f according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.54 MYO7A PCDH15 USH1C
2 photoreceptor outer segment GO:0001750 9.33 MYO7A PCDH15 USH1C
3 microvillus GO:0005902 9.32 MYO7A USH1C
4 photoreceptor connecting cilium GO:0032391 9.26 MYO7A USH1G
5 photoreceptor inner segment GO:0001917 9.13 MYO7A USH1C USH1G
6 stereocilium GO:0032420 8.8 MYO7A PCDH15 USH1C

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.65 COCH MYO7A PCDH15 USH1C USH1G
2 inner ear morphogenesis GO:0042472 9.58 MYO7A USH1C USH1G
3 photoreceptor cell maintenance GO:0045494 9.54 PCDH15 USH1C USH1G
4 auditory receptor cell differentiation GO:0042491 9.5 MYO7A PCDH15 USH1C
5 inner ear development GO:0048839 9.49 MYO7A PCDH15
6 actin filament bundle assembly GO:0051017 9.48 PCDH15 USH1C
7 auditory receptor cell stereocilium organization GO:0060088 9.46 MYO7A PCDH15
8 inner ear receptor stereocilium organization GO:0060122 9.46 MYO7A PCDH15 USH1C USH1G
9 inner ear receptor cell differentiation GO:0060113 9.43 MYO7A USH1G
10 sensory perception of light stimulus GO:0050953 9.26 MYO7A PCDH15 USH1C USH1G
11 equilibrioception GO:0050957 8.92 MYO7A PCDH15 USH1C USH1G

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

id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.16 MYO7A USH1C
2 protein N-terminus binding GO:0047485 8.96 MYO7A PCDH15
3 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type 1f

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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