USH1F
MCID: USH041
MIFTS: 37

Usher Syndrome, Type if (USH1F)

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

Aliases & Classifications for Usher Syndrome, Type if

MalaCards integrated aliases for Usher Syndrome, Type if:

Name: Usher Syndrome, Type if 58 74
Usher Syndrome, Type 1f 58 54 30 13 6 41
Ush1f 58 12 54 76
Usher Syndrome Type 1f 12 15
Usher Syndrome Type if 12 76
Usher's Syndrome Type 1f 76
Usher Syndrome 1f 76

Characteristics:

OMIM:

58
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:

33
usher syndrome, type if:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110832
OMIM 58 602083
MeSH 45 D052245
ICD10 34 H35.5
MedGen 43 C1865885
UMLS 74 C1865885

Summaries for Usher Syndrome, Type if

UniProtKB/Swiss-Prot : 76 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 deafness, autosomal recessive 23. An important gene associated with Usher Syndrome, Type if is PCDH15 (Protocadherin Related 15). Affiliated tissues include eye, and related phenotypes are motor delay and rod-cone dystrophy

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 : 58 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 Iv
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 29.6 CDH23 MYO7A PCDH15
2 deafness, autosomal recessive 23 29.6 CDH23 MYO7A PCDH15
3 usher syndrome 28.5 CDH23 MYO7A PCDH15 USH1C USH1G
4 nonsyndromic deafness 28.5 CDH23 MYO7A PCDH15 USH1C USH1G
5 deafness, autosomal recessive 10.1 PCDH15 USH1C
6 dfnb1 10.0 MYO7A PCDH15
7 deafness, autosomal recessive 85 9.9 CDH23 MYO7A
8 deafness, autosomal recessive 83 9.9 CDH23 MYO7A
9 autosomal recessive nonsyndromic deafness 3 9.9 CDH23 MYO7A
10 deafness, autosomal dominant 6 9.8 CDH23 MYO7A
11 inner ear disease 9.8 CDH23 MYO7A
12 deafness, autosomal dominant 20 9.7 USH1C USH1G
13 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 CDH23 MYO7A
14 deafness, autosomal recessive 12 9.7 CDH23 MYO7A PCDH15
15 sensorineural hearing loss 9.7 CDH23 MYO7A PCDH15
16 usher syndrome, type ic 9.6 CDH23 MYO7A USH1C
17 retinal degeneration 9.6 MYO7A USH1C
18 branchiootic syndrome 1 9.5 CDH23 MYO7A USH1G
19 auditory system disease 9.4 CDH23 MYO7A PCDH15 USH1C
20 bardet-biedl syndrome 9.4 CDH23 MYO7A PCDH15 USH1C
21 usher syndrome, type ig 9.3 CDH23 MYO7A PCDH15 USH1G
22 usher syndrome, type i 9.0 CDH23 MYO7A PCDH15 USH1C USH1G
23 usher syndrome, type id 9.0 CDH23 MYO7A PCDH15 USH1C USH1G
24 usher syndrome, type iid 9.0 CDH23 MYO7A PCDH15 USH1C USH1G
25 usher syndrome, type iiia 9.0 CDH23 MYO7A PCDH15 USH1C USH1G
26 usher syndrome, type iic 9.0 CDH23 MYO7A PCDH15 USH1C USH1G
27 usher syndrome type 2 9.0 CDH23 MYO7A PCDH15 USH1C USH1G
28 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.0 CDH23 MYO7A PCDH15 USH1C USH1G
29 retinitis pigmentosa 8.9 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

Human phenotypes related to Usher Syndrome, Type if:

33
# Description HPO Frequency HPO Source Accession
1 motor delay 33 HP:0001270
2 rod-cone dystrophy 33 HP:0000510
3 congenital sensorineural hearing impairment 33 HP:0008527

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
delayed motor milestones

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

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM:

602083

MGI Mouse Phenotypes related to Usher Syndrome, Type if:

47
# 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 CDH23 MYO7A PCDH15 USH1C USH1G
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 30 PCDH15

Anatomical Context for Usher Syndrome, Type if

MalaCards organs/tissues related to Usher Syndrome, Type if:

42
Eye

Publications for Usher Syndrome, Type if

Articles related to Usher Syndrome, Type if:

# Title Authors Year
1
A population-based study of autosomal-recessive disease-causing mutations in a founder population. ( 22981120 )
2012
2
Clinical utility gene card for: Usher syndrome. ( 21697857 )
2011
3
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
4
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
5
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. ( 18719945 )
2008
6
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. ( 15660226 )
2005
7
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. ( 15537665 )
2005
8
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. ( 12711741 )
2003
9
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. ( 11398101 )
2001
10
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. ( 11487575 )
2001

Variations for Usher Syndrome, Type if

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

76
# Symbol AA change Variation ID SNP ID
1 PCDH15 p.Gln1342Lys VAR_024037 rs61731387
2 PCDH15 p.Arg134Gln VAR_071696 rs767966376

ClinVar genetic disease variations for Usher Syndrome, Type if:

6 (show top 50) (show all 582)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH15 NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs) deletion Pathogenic rs199469706 GRCh38 Chromosome 10, 54213948: 54213948
2 PCDH15 NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs) deletion Pathogenic rs199469706 GRCh37 Chromosome 10, 55973708: 55973708
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.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
7 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh38 Chromosome 10, 54317414: 54317414
8 PCDH15 PCDH15, 3-BP DEL, 5601AAC deletion Pathogenic
9 PCDH15 NM_033056.3(PCDH15): c.1940C> G (p.Ser647Ter) single nucleotide variant Pathogenic rs137853004 GRCh37 Chromosome 10, 55849801: 55849801
10 PCDH15 NM_033056.3(PCDH15): c.1940C> G (p.Ser647Ter) single nucleotide variant Pathogenic rs137853004 GRCh38 Chromosome 10, 54090041: 54090041
11 PCDH15 NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs) deletion Pathogenic/Likely pathogenic rs397517451 GRCh37 Chromosome 10, 56424007: 56424007
12 PCDH15 NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs) deletion Pathogenic/Likely pathogenic rs397517451 GRCh38 Chromosome 10, 54664247: 54664247
13 PCDH15 NM_033056.3(PCDH15): c.1998-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397517452 GRCh37 Chromosome 10, 55839186: 55839186
14 PCDH15 NM_033056.3(PCDH15): c.1998-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397517452 GRCh38 Chromosome 10, 54079426: 54079426
15 PCDH15 NM_033056.3(PCDH15): c.2717C> T (p.Pro906Leu) single nucleotide variant Uncertain significance rs374205826 GRCh37 Chromosome 10, 55779986: 55779986
16 PCDH15 NM_033056.3(PCDH15): c.2717C> T (p.Pro906Leu) single nucleotide variant Uncertain significance rs374205826 GRCh38 Chromosome 10, 54020226: 54020226
17 PCDH15 NM_033056.3(PCDH15): c.2885G> A (p.Arg962His) single nucleotide variant Conflicting interpretations of pathogenicity rs45483395 GRCh37 Chromosome 10, 55721636: 55721636
18 PCDH15 NM_033056.3(PCDH15): c.2885G> A (p.Arg962His) single nucleotide variant Conflicting interpretations of pathogenicity rs45483395 GRCh38 Chromosome 10, 53961876: 53961876
19 PCDH15 NM_033056.3(PCDH15): c.2992C> G (p.Pro998Ala) single nucleotide variant Uncertain significance rs397517454 GRCh37 Chromosome 10, 55721529: 55721529
20 PCDH15 NM_033056.3(PCDH15): c.2992C> G (p.Pro998Ala) single nucleotide variant Uncertain significance rs397517454 GRCh38 Chromosome 10, 53961769: 53961769
21 PCDH15 NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202033121 GRCh37 Chromosome 10, 55698632: 55698632
22 PCDH15 NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202033121 GRCh38 Chromosome 10, 53938872: 53938872
23 PCDH15 NM_033056.3(PCDH15): c.3817C> A (p.Arg1273Ser) single nucleotide variant Uncertain significance rs111033363 GRCh37 Chromosome 10, 55600246: 55600246
24 PCDH15 NM_033056.3(PCDH15): c.3817C> A (p.Arg1273Ser) single nucleotide variant Uncertain significance rs111033363 GRCh38 Chromosome 10, 53840486: 53840486
25 PCDH15 NM_033056.3(PCDH15): c.4024C> A (p.Gln1342Lys) single nucleotide variant Benign/Likely benign rs61731387 GRCh37 Chromosome 10, 55591253: 55591253
26 PCDH15 NM_033056.3(PCDH15): c.4024C> A (p.Gln1342Lys) single nucleotide variant Benign/Likely benign rs61731387 GRCh38 Chromosome 10, 53831493: 53831493
27 PCDH15 NM_033056.3(PCDH15): c.5359C> T (p.Pro1787Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61862390 GRCh37 Chromosome 10, 55582127: 55582127
28 PCDH15 NM_033056.3(PCDH15): c.5359C> T (p.Pro1787Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61862390 GRCh38 Chromosome 10, 53822367: 53822367
29 PCDH15 NM_033056.3(PCDH15): c.5398G> A (p.Val1800Ile) single nucleotide variant Benign/Likely benign rs111033463 GRCh37 Chromosome 10, 55582088: 55582088
30 PCDH15 NM_033056.3(PCDH15): c.5398G> A (p.Val1800Ile) single nucleotide variant Benign/Likely benign rs111033463 GRCh38 Chromosome 10, 53822328: 53822328
31 PCDH15 NM_033056.3(PCDH15): c.5726G> A (p.Arg1909His) single nucleotide variant Uncertain significance rs145851144 GRCh37 Chromosome 10, 55581760: 55581760
32 PCDH15 NM_033056.3(PCDH15): c.5726G> A (p.Arg1909His) single nucleotide variant Uncertain significance rs145851144 GRCh38 Chromosome 10, 53822000: 53822000
33 PCDH15 NM_033056.3(PCDH15): c.158-16930T> C single nucleotide variant Likely benign rs207470941 GRCh38 Chromosome 10, 54395872: 54395872
34 PCDH15 NM_033056.3(PCDH15): c.158-16930T> C single nucleotide variant Likely benign rs207470941 GRCh37 Chromosome 10, 56155632: 56155632
35 PCDH15 NM_033056.3(PCDH15): c.2367_2369delTGT (p.Val790del) deletion Conflicting interpretations of pathogenicity rs483352837 GRCh38 Chromosome 10, 54023049: 54023051
36 PCDH15 NM_033056.3(PCDH15): c.2367_2369delTGT (p.Val790del) deletion Conflicting interpretations of pathogenicity rs483352837 GRCh37 Chromosome 10, 55782809: 55782811
37 PCDH15 NM_033056.3(PCDH15): c.(?_-15)_(876_?)del deletion Pathogenic GRCh37 Chromosome 10, 56077031: 56424037
38 PCDH15 NM_033056.3(PCDH15): c.(?_-15)_(876_?)del deletion Pathogenic GRCh38 Chromosome 10, 54317271: 54664277
39 PCDH15 NM_033056.3(PCDH15): c.3501+13A> G single nucleotide variant Likely benign rs727503365 GRCh37 Chromosome 10, 55662990: 55662990
40 PCDH15 NM_033056.3(PCDH15): c.3501+13A> G single nucleotide variant Likely benign rs727503365 GRCh38 Chromosome 10, 53903230: 53903230
41 PCDH15 NM_033056.3(PCDH15): c.2435T> C (p.Ile812Thr) single nucleotide variant Benign/Likely benign rs61731363 GRCh38 Chromosome 10, 54022983: 54022983
42 PCDH15 NM_033056.3(PCDH15): c.2435T> C (p.Ile812Thr) single nucleotide variant Benign/Likely benign rs61731363 GRCh37 Chromosome 10, 55782743: 55782743
43 PCDH15 NM_033056.3(PCDH15): c.2102C> T (p.Ala701Val) single nucleotide variant Uncertain significance rs199537178 GRCh37 Chromosome 10, 55826635: 55826635
44 PCDH15 NM_033056.3(PCDH15): c.2102C> T (p.Ala701Val) single nucleotide variant Uncertain significance rs199537178 GRCh38 Chromosome 10, 54066875: 54066875
45 PCDH15 NM_033056.3(PCDH15): c.3807-6T> G single nucleotide variant Uncertain significance rs727504791 GRCh38 Chromosome 10, 53840502: 53840502
46 PCDH15 NM_033056.3(PCDH15): c.3807-6T> G single nucleotide variant Uncertain significance rs727504791 GRCh37 Chromosome 10, 55600262: 55600262
47 PCDH15 NM_033056.3(PCDH15): c.1927C> T (p.Arg643Ter) single nucleotide variant Pathogenic rs727504301 GRCh38 Chromosome 10, 54090054: 54090054
48 PCDH15 NM_033056.3(PCDH15): c.1927C> T (p.Arg643Ter) single nucleotide variant Pathogenic rs727504301 GRCh37 Chromosome 10, 55849814: 55849814
49 PCDH15 NM_033056.3(PCDH15): c.3717+1G> A single nucleotide variant Likely pathogenic rs748706627 GRCh37 Chromosome 10, 55626401: 55626401
50 PCDH15 NM_033056.3(PCDH15): c.3717+1G> A single nucleotide variant Likely pathogenic rs748706627 GRCh38 Chromosome 10, 53866641: 53866641

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 13)
# 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 inner ear auditory receptor cell differentiation GO:0042491 9.54 MYO7A PCDH15 USH1C
7 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.52 CDH23 PCDH15
8 locomotory behavior GO:0007626 9.51 CDH23 PCDH15
9 inner ear development GO:0048839 9.49 MYO7A PCDH15
10 auditory receptor cell stereocilium organization GO:0060088 9.46 MYO7A PCDH15
11 inner ear receptor cell differentiation GO:0060113 9.43 MYO7A USH1G
12 equilibrioception GO:0050957 9.35 CDH23 MYO7A PCDH15 USH1C USH1G
13 sensory perception of light stimulus GO:0050953 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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