MCID: USH041
MIFTS: 36

Usher Syndrome, Type if

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

Aliases & Classifications for Usher Syndrome, Type if

MalaCards integrated aliases for Usher Syndrome, Type if:

Name: Usher Syndrome, Type if 57 73
Usher Syndrome, Type 1f 57 53 29 13 6 40
Ush1f 57 12 53 75
Usher Syndrome Type 1f 12 15
Usher Syndrome Type if 12 75
Usher's Syndrome Type 1f 75
Usher Syndrome 1f 75

Characteristics:

OMIM:

57
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 if:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 602083
Disease Ontology 12 DOID:0110832
ICD10 33 H35.5
MedGen 42 C1865885
MeSH 44 D052245
SNOMED-CT via HPO 69 258211005 28835009 700453005
UMLS 73 C1865885

Summaries for Usher Syndrome, Type if

UniProtKB/Swiss-Prot : 75 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 if, also known as usher syndrome, type 1f, is related to retinitis pigmentosa-deafness syndrome and usher syndrome. An important gene associated with Usher Syndrome, Type if is PCDH15 (Protocadherin Related 15). Related phenotypes are rod-cone dystrophy and motor delay

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 : 57 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 if

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome Type 2
Usher Syndrome, Type 2b

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 29.0 CDH23 MYO7A PCDH15
2 usher syndrome 26.7 CDH23 MYO7A PCDH15 USH1C USH1G
3 nonsyndromic deafness 26.7 CDH23 MYO7A PCDH15 USH1C USH1G
4 dfnb1 9.9 MYO7A PCDH15
5 deafness, autosomal recessive 85 9.8 CDH23 MYO7A
6 deafness, autosomal recessive 83 9.8 CDH23 MYO7A
7 autosomal recessive nonsyndromic deafness 3 9.8 CDH23 MYO7A
8 deafness, autosomal dominant 6 9.8 CDH23 MYO7A
9 inner ear disease 9.7 CDH23 MYO7A
10 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 CDH23 MYO7A
11 deafness, autosomal dominant 20 9.5 USH1C USH1G
12 deafness, autosomal recessive 23 9.4 CDH23 MYO7A PCDH15
13 deafness, autosomal recessive 12 9.4 CDH23 MYO7A PCDH15
14 auditory system disease 9.4 CDH23 MYO7A PCDH15
15 sensorineural hearing loss 9.3 CDH23 MYO7A PCDH15
16 retinal degeneration 9.1 MYO7A USH1C
17 deafness, autosomal recessive 9.1 PCDH15 USH1C
18 retinal disease 9.0 MYO7A PCDH15 USH1C
19 usher syndrome, type ic 9.0 CDH23 MYO7A USH1C
20 usher syndrome, type ig 8.9 CDH23 MYO7A PCDH15 USH1G
21 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.5 CDH23 MYO7A PCDH15 USH1C
22 bardet-biedl syndrome 8.4 CDH23 MYO7A PCDH15 USH1C
23 usher syndrome, type id 7.9 CDH23 MYO7A PCDH15 USH1C USH1G
24 usher syndrome, type iid 7.9 CDH23 MYO7A PCDH15 USH1C USH1G
25 usher syndrome, type iiia 7.9 CDH23 MYO7A PCDH15 USH1C USH1G
26 usher syndrome, type iic 7.9 CDH23 MYO7A PCDH15 USH1C USH1G
27 usher syndrome type 2 7.9 CDH23 MYO7A PCDH15 USH1C USH1G
28 usher syndrome, type i 7.9 CDH23 MYO7A PCDH15 USH1C USH1G
29 retinitis pigmentosa 7.8 CDH23 MYO7A PCDH15 USH1C USH1G

Graphical network of the top 20 diseases related to Usher Syndrome, Type if:



Diseases related to Usher Syndrome, Type if

Symptoms & Phenotypes for Usher Syndrome, Type if

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, profound congenital

Neurologic Central Nervous System:
delayed motor milestones

Head And Neck Eyes:
retinitis pigmentosa


Clinical features from OMIM:

602083

Human phenotypes related to Usher Syndrome, Type if:

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

MGI Mouse Phenotypes related to Usher Syndrome, Type if:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 CDH23 MYO7A PCDH15 USH1C USH1G
2 hearing/vestibular/ear MP:0005377 9.55 MYO7A PCDH15 USH1C USH1G CDH23
3 nervous system MP:0003631 9.35 CDH23 MYO7A PCDH15 USH1C USH1G
4 vision/eye MP:0005391 9.02 CDH23 MYO7A PCDH15 USH1C USH1G

Drugs & Therapeutics for Usher Syndrome, Type if

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type if

Genetic Tests for Usher Syndrome, Type if

Genetic tests related to Usher Syndrome, Type if:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 1f 29 PCDH15

Anatomical Context for Usher Syndrome, Type if

Publications for Usher Syndrome, Type if

Articles related to Usher Syndrome, Type if:

# 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
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. ( 19107147 )
2009
3
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. ( 11487575 )
2001
4
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. ( 11398101 )
2001

Variations for Usher Syndrome, Type if

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

75
# 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 if:

6
(show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH15 NM_033056.3(PCDH15): c.1940C> G (p.Ser647Ter) single nucleotide variant Pathogenic rs137853004 GRCh37 Chromosome 10, 55849801: 55849801
2 PCDH15 NM_033056.3(PCDH15): c.1940C> G (p.Ser647Ter) single nucleotide variant Pathogenic rs137853004 GRCh38 Chromosome 10, 54090041: 54090041
3 PCDH15 PCDH15, IVS27, A-G, -2 single nucleotide variant Pathogenic
4 PCDH15 NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137853001 GRCh37 Chromosome 10, 56424016: 56424016
5 PCDH15 NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137853001 GRCh38 Chromosome 10, 54664256: 54664256
6 PCDH15 NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs) deletion Pathogenic rs199469706 GRCh37 Chromosome 10, 55973708: 55973708
7 PCDH15 NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs) deletion Pathogenic rs199469706 GRCh38 Chromosome 10, 54213948: 54213948
8 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
9 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh38 Chromosome 10, 54317414: 54317414
10 PCDH15 PCDH15, 3-BP DEL, 5601AAC deletion Pathogenic
11 PCDH15 NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs) deletion Pathogenic rs397517451 GRCh37 Chromosome 10, 56424007: 56424007
12 PCDH15 NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs) deletion Pathogenic rs397517451 GRCh38 Chromosome 10, 54664247: 54664247
13 PCDH15 NM_033056.3(PCDH15): c.1998-2A> G single nucleotide variant Pathogenic rs397517452 GRCh37 Chromosome 10, 55839186: 55839186
14 PCDH15 NM_033056.3(PCDH15): c.1998-2A> G single nucleotide variant Pathogenic rs397517452 GRCh38 Chromosome 10, 54079426: 54079426
15 PCDH15 NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202033121 GRCh37 Chromosome 10, 55698632: 55698632
16 PCDH15 NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202033121 GRCh38 Chromosome 10, 53938872: 53938872
17 PCDH15 NM_033056.3(PCDH15): c.(?_-15)_(876_?)del deletion Pathogenic GRCh37 Chromosome 10, 56077031: 56424037
18 PCDH15 NM_033056.3(PCDH15): c.(?_-15)_(876_?)del deletion Pathogenic GRCh38 Chromosome 10, 54317271: 54664277
19 PCDH15 NM_033056.3(PCDH15): c.2102C> T (p.Ala701Val) single nucleotide variant Uncertain significance rs199537178 GRCh37 Chromosome 10, 55826635: 55826635
20 PCDH15 NM_033056.3(PCDH15): c.2102C> T (p.Ala701Val) single nucleotide variant Uncertain significance rs199537178 GRCh38 Chromosome 10, 54066875: 54066875
21 PCDH15 NM_033056.3(PCDH15): c.1927C> T (p.Arg643Ter) single nucleotide variant Pathogenic rs727504301 GRCh37 Chromosome 10, 55849814: 55849814
22 PCDH15 NM_033056.3(PCDH15): c.1927C> T (p.Arg643Ter) single nucleotide variant Pathogenic rs727504301 GRCh38 Chromosome 10, 54090054: 54090054
23 PCDH15 NM_033056.3(PCDH15): c.3717+1G> A single nucleotide variant Likely pathogenic rs748706627 GRCh37 Chromosome 10, 55626401: 55626401
24 PCDH15 NM_033056.3(PCDH15): c.3717+1G> A single nucleotide variant Likely pathogenic rs748706627 GRCh38 Chromosome 10, 53866641: 53866641
25 PCDH15 NM_001142772.1(PCDH15): c.400C> T (p.Arg134Ter) single nucleotide variant Likely pathogenic rs137853003 GRCh38 Chromosome 10, 54369194: 54369194
26 PCDH15 NM_001142772.1(PCDH15): c.400C> T (p.Arg134Ter) single nucleotide variant Likely pathogenic rs137853003 GRCh37 Chromosome 10, 56128954: 56128954
27 PCDH15 NM_033056.3(PCDH15): c.(?_3374)_(3501_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome 10, 55663003: 55663130
28 PCDH15 NM_033056.3(PCDH15): c.(?_3374)_(3501_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome 10, 53903243: 53903370
29 PCDH15 NM_033056.3(PCDH15): c.3358C> T (p.Arg1120Ter) single nucleotide variant Pathogenic rs773404494 GRCh37 Chromosome 10, 55698590: 55698590
30 PCDH15 NM_033056.3(PCDH15): c.3358C> T (p.Arg1120Ter) single nucleotide variant Pathogenic rs773404494 GRCh38 Chromosome 10, 53938830: 53938830
31 PCDH15 NM_033056.3(PCDH15): c.4368-2A> T single nucleotide variant Likely pathogenic rs989521806 GRCh38 Chromosome 10, 53823360: 53823360
32 PCDH15 NM_033056.3(PCDH15): c.4368-2A> T single nucleotide variant Likely pathogenic rs989521806 GRCh37 Chromosome 10, 55583120: 55583120
33 PCDH15 NM_033056.3(PCDH15): c.4368-15_4368-2delTTCTTTTCTTTCAA deletion Likely pathogenic rs1057516560 GRCh38 Chromosome 10, 53823360: 53823373
34 PCDH15 NM_033056.3(PCDH15): c.4368-15_4368-2delTTCTTTTCTTTCAA deletion Likely pathogenic rs1057516560 GRCh37 Chromosome 10, 55583120: 55583133
35 PCDH15 NM_033056.3(PCDH15): c.4367+1G> A single nucleotide variant Likely pathogenic rs1057516613 GRCh37 Chromosome 10, 55587152: 55587152
36 PCDH15 NM_033056.3(PCDH15): c.4367+1G> A single nucleotide variant Likely pathogenic rs1057516613 GRCh38 Chromosome 10, 53827392: 53827392
37 PCDH15 NM_033056.3(PCDH15): c.4313delC (p.Pro1438Argfs) deletion Likely pathogenic rs1057516351 GRCh37 Chromosome 10, 55587207: 55587207
38 PCDH15 NM_033056.3(PCDH15): c.4313delC (p.Pro1438Argfs) deletion Likely pathogenic rs1057516351 GRCh38 Chromosome 10, 53827447: 53827447
39 PCDH15 NM_033056.3(PCDH15): c.4227T> A (p.Cys1409Ter) single nucleotide variant Likely pathogenic rs1057516472 GRCh38 Chromosome 10, 53827533: 53827533
40 PCDH15 NM_033056.3(PCDH15): c.4227T> A (p.Cys1409Ter) single nucleotide variant Likely pathogenic rs1057516472 GRCh37 Chromosome 10, 55587293: 55587293
41 PCDH15 NM_033056.3(PCDH15): c.4211+2dupT duplication Likely pathogenic rs1057517419 GRCh38 Chromosome 10, 53828563: 53828563
42 PCDH15 NM_033056.3(PCDH15): c.4211+2dupT duplication Likely pathogenic rs1057517419 GRCh37 Chromosome 10, 55588323: 55588323
43 PCDH15 NM_033056.3(PCDH15): c.4197_4198insGTAG (p.Arg1400Valfs) insertion Likely pathogenic rs1057516821 GRCh37 Chromosome 10, 55591079: 55591080
44 PCDH15 NM_033056.3(PCDH15): c.4197_4198insGTAG (p.Arg1400Valfs) insertion Likely pathogenic rs1057516821 GRCh38 Chromosome 10, 53831319: 53831320
45 PCDH15 NM_033056.3(PCDH15): c.3983+1G> T single nucleotide variant Likely pathogenic rs758921360 GRCh38 Chromosome 10, 53840319: 53840319
46 PCDH15 NM_033056.3(PCDH15): c.3983+1G> T single nucleotide variant Likely pathogenic rs758921360 GRCh37 Chromosome 10, 55600079: 55600079
47 PCDH15 NM_033056.3(PCDH15): c.3885_3889dup (p.Ala1297Glufs) duplication Likely pathogenic rs1057516780 GRCh38 Chromosome 10, 53840414: 53840418
48 PCDH15 NM_033056.3(PCDH15): c.3885_3889dup (p.Ala1297Glufs) duplication Likely pathogenic rs1057516780 GRCh37 Chromosome 10, 55600174: 55600178
49 PCDH15 NM_033056.3(PCDH15): c.3653delT (p.Phe1218Serfs) deletion Likely pathogenic rs1057516268 GRCh37 Chromosome 10, 55626466: 55626466
50 PCDH15 NM_033056.3(PCDH15): c.3653delT (p.Phe1218Serfs) deletion Likely pathogenic rs1057516268 GRCh38 Chromosome 10, 53866706: 53866706

Expression for Usher Syndrome, Type if

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

Pathways for Usher Syndrome, Type if

GO Terms for Usher Syndrome, Type if

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

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.54 MYO7A PCDH15 USH1C
2 photoreceptor outer segment GO:0001750 9.43 MYO7A PCDH15 USH1C
3 photoreceptor inner segment GO:0001917 9.33 MYO7A USH1C USH1G
4 microvillus GO:0005902 9.32 MYO7A USH1C
5 photoreceptor connecting cilium GO:0032391 9.13 MYO7A USH1C USH1G
6 stereocilium GO:0032420 8.92 CDH23 MYO7A PCDH15 USH1C

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.65 CDH23 MYO7A PCDH15
2 sensory perception of sound GO:0007605 9.65 CDH23 MYO7A PCDH15 USH1C USH1G
3 photoreceptor cell maintenance GO:0045494 9.62 CDH23 PCDH15 USH1C USH1G
4 inner ear morphogenesis GO:0042472 9.58 MYO7A USH1C USH1G
5 inner ear receptor cell stereocilium organization GO:0060122 9.55 CDH23 MYO7A PCDH15 USH1C USH1G
6 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.54 CDH23 PCDH15
7 inner ear auditory receptor cell differentiation GO:0042491 9.54 MYO7A PCDH15 USH1C
8 locomotory behavior GO:0007626 9.52 CDH23 PCDH15
9 inner ear development GO:0048839 9.51 MYO7A PCDH15
10 actin filament bundle assembly GO:0051017 9.49 PCDH15 USH1C
11 auditory receptor cell stereocilium organization GO:0060088 9.46 MYO7A PCDH15
12 inner ear receptor cell differentiation GO:0060113 9.43 MYO7A USH1G
13 sensory perception of light stimulus GO:0050953 9.35 CDH23 MYO7A PCDH15 USH1C USH1G
14 equilibrioception GO:0050957 9.02 CDH23 MYO7A PCDH15 USH1C USH1G

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 8.96 MYO7A USH1C
2 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type if

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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