MCID: USH020
MIFTS: 41

Usher Syndrome, Type Iic

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

Aliases & Classifications for Usher Syndrome, Type Iic

MalaCards integrated aliases for Usher Syndrome, Type Iic:

Name: Usher Syndrome, Type Iic 53
Usher Syndrome, Type 2c 53 72 49 28 13 69
Ush2c 53 12 49 71
Usher Syndrome Type Iic 12 71
Usher Syndrome Type 2c 12 14
Usher Syndrome, Type Iic, Gpr98/pdzd7 Digenic 53
Usher Syndrome, Type 2c, Gpr98/pdzd7 Digenic 53
Usher Syndrome Type Iic Gpr98/pdzd7 Digenic 71
Usher's Syndrome Type 2c 71
Usher Syndrome 2c 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive
digenic dominant

Miscellaneous:
digenic form caused by heterozygous mutations in the gpr98 and pdzd7 genes


HPO:

31
usher syndrome, type iic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 605472
Disease Ontology 12 DOID:0110839
ICD10 32 H35.5
MeSH 41 D052245
SNOMED-CT via HPO 65 258211005 28835009 700453005
UMLS 69 C2931213

Summaries for Usher Syndrome, Type Iic

OMIM : 53 Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998). See 276900 for clinical characterization of Usher syndrome types I, II, and III. For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (276901). (605472)

MalaCards based summary : Usher Syndrome, Type Iic, also known as usher syndrome, type 2c, is related to usher syndrome, type iid and usher syndrome, and has symptoms including rod-cone dystrophy and congenital sensorineural hearing impairment. An important gene associated with Usher Syndrome, Type Iic is ADGRV1 (Adhesion G Protein-Coupled Receptor V1). Affiliated tissues include retina, and related phenotypes are behavior/neurological and hearing/vestibular/ear

UniProtKB/Swiss-Prot : 71 Usher syndrome 2C: 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.

Disease Ontology : 12 An Usher syndrome type 2 that has material basis in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.

Wikipedia : 72 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Related Diseases for Usher Syndrome, Type Iic

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 Iic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type iid 28.4 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
2 usher syndrome 28.2 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 PDZD7
3 nonsyndromic retinitis pigmentosa 10.3 CLRN1 USH2A
4 dfnb1 10.3 MYO7A PCDH15
5 deafness, autosomal recessive 6 10.3 ADGRV1 MYO7A USH2A
6 usher syndrome, type ic 10.2 CDH23 MYO7A USH1C
7 deafness, autosomal recessive 85 10.2 CDH23 MYO7A
8 usher syndrome, type iia 10.2 PDZD7 USH1C USH2A WHRN
9 auditory system disease 10.2 CDH23 MYO7A PCDH15
10 deafness, autosomal recessive 83 10.2 CDH23 MYO7A
11 macular dystrophy, dominant cystoid 10.2 CRB1 PDE6A
12 sensorineural hearing loss 10.1 CDH23 MYO7A USH2A
13 retinitis pigmentosa 43 10.1 PDE6A PDE6B
14 usher syndrome, type ig 10.0 CDH23 MYO7A PCDH15 USH1G
15 retinitis pigmentosa-deafness syndrome 10.0
16 deafness, autosomal recessive 10.0 CDH23 PCDH15 USH1C
17 bardet-biedl syndrome 10.0 CDH23 MYO7A PCDH15 USH1C
18 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9 CDH23 MYO7A PCDH15 USH1C WHRN
19 branchiootic syndrome 1 9.9
20 usher syndrome, type if 9.9 CDH23 MYO7A PCDH15 USH1C USH1G
21 deafness, autosomal recessive 23 9.8 CDH17 CDH23 MYO7A PCDH15
22 macular retinal edema 9.8 CRB1 PDE6A
23 retinal degeneration 9.7 CRB1 MYO7A PDE6B USH1C
24 deafness, autosomal recessive 12 9.7 CDH17 CDH23 MYO7A PCDH15 USH1C
25 nonsyndromic deafness 9.6 CDH23 MYO7A PCDH15 PDZD7 USH1C USH2A
26 usher syndrome, type id 9.6 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
27 rhyns syndrome 9.5 CLRN1 CRB1 PDE6A PDE6B USH2A
28 leber congenital amaurosis 9.5 CRB1 MYO7A PDE6A PDE6B USH2A
29 retinal disease 9.4 CRB1 MYO7A PCDH15 PDE6B USH1C USH2A
30 usher syndrome, type i 9.1 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
31 usher syndrome, type iiia 9.1 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
32 usher syndrome type 2 8.6 ADGRV1 CDH23 CLRN1 MYO7A OPA1 PCDH15
33 retinitis pigmentosa 8.1 ADGRV1 CDH23 CLRN1 CRB1 MYO7A PCDH15

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



Diseases related to Usher Syndrome, Type Iic

Symptoms & Phenotypes for Usher Syndrome, Type Iic

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, congenital sensorineural, moderate-severe

Head And Neck Eyes:
retinitis pigmentosa, progressive


Clinical features from OMIM:

605472

Human phenotypes related to Usher Syndrome, Type Iic:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 congenital sensorineural hearing impairment 31 HP:0008527

MGI Mouse Phenotypes related to Usher Syndrome, Type Iic:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ADGRV1 CDH23 CLRN1 MYO7A OPA1 PCDH15
2 hearing/vestibular/ear MP:0005377 10.07 PDE6B PDZD7 SLC4A7 USH1C USH1G USH2A
3 cellular MP:0005384 10.02 OPA1 PCDH15 PDE6B PDZD7 SLC4A7 USH1G
4 homeostasis/metabolism MP:0005376 9.9 CDH23 CRB1 ERN1 MYO7A OPA1 PDE6B
5 nervous system MP:0003631 9.86 PCDH15 PDE6A PDE6B PDZD7 SLC4A7 USH1C
6 vision/eye MP:0005391 9.5 ADGRV1 CDH23 CLRN1 CRB1 MYO7A OPA1

Drugs & Therapeutics for Usher Syndrome, Type Iic

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

Genetic Tests for Usher Syndrome, Type Iic

Genetic tests related to Usher Syndrome, Type Iic:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 2c 28 ADGRV1 PDZD7

Anatomical Context for Usher Syndrome, Type Iic

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

38
Retina

Publications for Usher Syndrome, Type Iic

Articles related to Usher Syndrome, Type Iic:

# Title Authors Year
1
Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family. ( 28951997 )
2017
2
A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II. ( 25572244 )
2014
3
Novel human pathological mutations. Gene symbol: GPR98. Disease: Usher syndrome 2C. ( 19320012 )
2009
4
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. ( 15671307 )
2005

Variations for Usher Syndrome, Type Iic

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

71
# Symbol AA change Variation ID SNP ID
1 ADGRV1 p.Arg4789Trp VAR_068032
2 ADGRV1 p.His5978Arg VAR_068033 rs756460900

ClinVar genetic disease variations for Usher Syndrome, Type Iic:

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRV1 NM_032119.3(ADGRV1): c.10229_10231dupTGG (p.Val3410_Ala3411insVal) duplication Likely pathogenic rs397517418 GRCh37 Chromosome 5, 90024553: 90024555
2 ADGRV1 NM_032119.3(ADGRV1): c.11253C> G (p.Tyr3751Ter) single nucleotide variant Pathogenic rs376689763 GRCh37 Chromosome 5, 90049522: 90049522
3 ADGRV1 NM_032119.3(ADGRV1): c.14973-2A> G single nucleotide variant Pathogenic rs371981035 GRCh37 Chromosome 5, 90106048: 90106048
4 ADGRV1 NM_032119.3(ADGRV1): c.17662delT (p.Ser5888Hisfs) deletion Pathogenic rs397517426 GRCh37 Chromosome 5, 90151625: 90151625
5 ADGRV1 NM_032119.3(ADGRV1): c.2398C> T (p.Arg800Ter) single nucleotide variant Pathogenic rs373780305 GRCh37 Chromosome 5, 89938703: 89938703
6 ADGRV1 NM_032119.3(ADGRV1): c.2870dupA (p.Asn957Lysfs) duplication Pathogenic rs397517429 GRCh37 Chromosome 5, 89940658: 89940658
7 ADGRV1 NM_032119.3(ADGRV1): c.7374_7375delTG (p.Glu2459Glyfs) deletion Pathogenic rs397517435 GRCh37 Chromosome 5, 89989947: 89989948
8 ADGRV1 NM_032119.3(ADGRV1): c.7406G> A (p.Trp2469Ter) single nucleotide variant Pathogenic rs397517436 GRCh37 Chromosome 5, 89989979: 89989979
9 ADGRV1 NM_032119.3(ADGRV1): c.8737delG (p.Val2913Tyrfs) deletion Pathogenic rs397517441 GRCh37 Chromosome 5, 90004639: 90004639
10 ADGRV1 NM_032119.3(ADGRV1): c.12403+1G> T single nucleotide variant Likely pathogenic rs527236132 GRCh38 Chromosome 5, 90774304: 90774304
11 ADGRV1 NM_032119.3(ADGRV1): c.15736C> T (p.Arg5246Ter) single nucleotide variant Likely pathogenic rs527236131 GRCh38 Chromosome 5, 90810996: 90810996
12 ADGRV1 NM_032119.3(ADGRV1): c.7006C> T (p.Arg2336Ter) single nucleotide variant Likely pathogenic rs527236133 GRCh38 Chromosome 5, 90692659: 90692659
13 ADGRV1 NM_032119.3(ADGRV1): c.(?_4379)_(4752_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome 5, 89953722: 89954095
14 ADGRV1 NM_032119.3(ADGRV1): c.(?_18153)-15_*(15_?)del deletion Pathogenic GRCh37 Chromosome 5, 90368249: 90459732
15 ADGRV1 NM_032119.3(ADGRV1): c.5643delG (p.Tyr1882Ilefs) deletion Pathogenic rs727503076 GRCh37 Chromosome 5, 89977250: 89977250
16 ADGRV1 NM_032119.3(ADGRV1): c.10060_10063delACAA (p.Thr3354Serfs) deletion Pathogenic rs727504978 GRCh37 Chromosome 5, 90021372: 90021375
17 ADGRV1 NM_032119.3(ADGRV1): c.12631C> T (p.Arg4211Ter) single nucleotide variant Pathogenic rs727504777 GRCh38 Chromosome 5, 90778008: 90778008
18 ADGRV1 NM_032119.3(ADGRV1): c.17303_17315delGAGATTACATTCG (p.Gly5768Glufs) deletion Pathogenic rs727504644 GRCh38 Chromosome 5, 90853382: 90853394
19 ADGRV1 NM_032119.3(ADGRV1): c.5779_5783dupACGAG (p.Ser1928Argfs) duplication Pathogenic rs730880369 GRCh38 Chromosome 5, 90683700: 90683704
20 ADGRV1 NM_032119.3(ADGRV1): c.4702delA (p.Ser1568Valfs) deletion Pathogenic rs794727347 GRCh37 Chromosome 5, 89954045: 89954045
21 ADGRV1 NM_032119.3(ADGRV1): c.8204delA (p.Asn2735Metfs) deletion Pathogenic rs794727584 GRCh37 Chromosome 5, 89999530: 89999530
22 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808
23 ADGRV1 NM_032119.3(ADGRV1): c.8713_8716dupAACA (p.Ile2906Lysfs) duplication Pathogenic rs796051863 GRCh38 Chromosome 5, 90706377: 90706380
24 ADGRV1 NM_032119.3(ADGRV1): c.8790delC (p.Met2931Trpfs) deletion Pathogenic rs796051864 GRCh38 Chromosome 5, 90708875: 90708875
25 ADGRV1 NM_032119.3(ADGRV1): c.18732_18750del19 (p.Tyr6244Terfs) deletion Pathogenic rs796051865 GRCh38 Chromosome 5, 91153328: 91153346
26 ADGRV1 NM_032119.3(ADGRV1): c.18131A> G (p.Tyr6044Cys) single nucleotide variant Pathogenic rs121909763 GRCh37 Chromosome 5, 90281318: 90281318
27 ADGRV1 NG_007083.1: g.371658_507674del deletion Pathogenic GRCh38 Chromosome 5, 90925457: 91061473
28 ADGRV1 NM_032119.3(ADGRV1): c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs) deletion Pathogenic rs796051866 GRCh38 Chromosome 5, 90642653: 90642665
29 ADGRV1 NM_032119.3(ADGRV1): c.5357_5358delAA (p.Lys1786Ilefs) deletion Pathogenic rs796051867 GRCh38 Chromosome 5, 90676123: 90676124
30 ADGRV1 NM_032119.3(ADGRV1): c.1239-8C> G single nucleotide variant Likely pathogenic rs869312178 GRCh37 Chromosome 5, 89924371: 89924371
31 ADGRV1 NM_032119.3: c.16079-1455_c.16196+155del deletion Likely pathogenic
32 ADGRV1 NM_032119.3(ADGRV1): c.1701delC (p.Leu568Cysfs) deletion Pathogenic rs876657695 GRCh38 Chromosome 5, 90629401: 90629401
33 ADGRV1 NM_032119.3(ADGRV1): c.7129C> T (p.Arg2377Ter) single nucleotide variant Pathogenic rs758718347 GRCh38 Chromosome 5, 90692782: 90692782
34 ADGRV1 NM_032119.3(ADGRV1): c.12101T> G (p.Phe4034Cys) single nucleotide variant Likely pathogenic rs876657647 GRCh38 Chromosome 5, 90759569: 90759569
35 ADGRV1 NM_032119.3(ADGRV1): c.14885G> A (p.Trp4962Ter) single nucleotide variant Pathogenic rs876657694 GRCh38 Chromosome 5, 90807650: 90807650
36 ADGRV1 NM_032119.3(ADGRV1): c.7606G> T (p.Glu2536Ter) single nucleotide variant Pathogenic rs886039893 GRCh38 Chromosome 5, 90694362: 90694362
37 ADGRV1 NM_032119.3(ADGRV1): c.12436C> T (p.Arg4146Ter) single nucleotide variant Likely pathogenic rs369793306 GRCh38 Chromosome 5, 90776485: 90776485
38 ADGRV1 NM_032119.3(ADGRV1): c.2898G> A (p.Glu966=) single nucleotide variant Pathogenic rs1060499796 GRCh37 Chromosome 5, 89940686: 89940686
39 ADGRV1 NM_032119.3(ADGRV1): c.10426G> A (p.Gly3476Arg) single nucleotide variant Pathogenic rs1060499795 GRCh37 Chromosome 5, 90024750: 90024750

Expression for Usher Syndrome, Type Iic

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

Pathways for Usher Syndrome, Type Iic

GO Terms for Usher Syndrome, Type Iic

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.91 ADGRV1 MYO7A PCDH15 SLC4A7 USH1C
2 apical plasma membrane GO:0016324 9.84 CRB1 MYO7A SLC4A7 USH2A
3 ciliary basal body GO:0036064 9.72 USH1G USH2A WHRN
4 microvillus GO:0005902 9.71 CLRN1 CRB1 MYO7A USH1C
5 photoreceptor outer segment GO:0001750 9.67 MYO7A PCDH15 USH1C
6 photoreceptor connecting cilium GO:0032391 9.62 MYO7A USH1G USH2A WHRN
7 photoreceptor disc membrane GO:0097381 9.56 PDE6A PDE6B
8 stereocilium bundle GO:0032421 9.54 PCDH15 USH2A WHRN
9 periciliary membrane compartment GO:1990075 9.46 USH2A WHRN
10 stereocilia ankle link complex GO:0002142 9.43 USH2A WHRN
11 stereocilia ankle link GO:0002141 9.43 PDZD7 USH2A WHRN
12 photoreceptor inner segment GO:0001917 9.43 CRB1 MYO7A USH1C USH1G USH2A WHRN
13 USH2 complex GO:1990696 9.33 PDZD7 USH2A WHRN
14 stereocilium GO:0032420 9.23 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
15 membrane GO:0016020 10.4 ADGRV1 CDH17 CDH23 CLRN1 CRB1 ERN1
16 plasma membrane GO:0005886 10.29 ADGRV1 CDH17 CDH23 CLRN1 CRB1 PCDH15

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.81 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
2 auditory receptor cell stereocilium organization GO:0060088 9.8 CLRN1 MYO7A PCDH15 PDZD7 WHRN
3 inner ear receptor cell stereocilium organization GO:0060122 9.8 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
4 photoreceptor cell maintenance GO:0045494 9.8 ADGRV1 CDH23 CLRN1 PCDH15 USH1C USH1G
5 inner ear morphogenesis GO:0042472 9.72 MYO7A USH1C USH1G
6 establishment of protein localization GO:0045184 9.7 PDZD7 USH2A WHRN
7 regulation of cytosolic calcium ion concentration GO:0051480 9.69 CDH23 PDE6A PDE6B
8 inner ear auditory receptor cell differentiation GO:0042491 9.65 MYO7A PCDH15 USH1C
9 inner ear receptor cell differentiation GO:0060113 9.63 MYO7A USH1G USH2A
10 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.61 CDH17 CDH23
11 regulation of rhodopsin mediated signaling pathway GO:0022400 9.61 PDE6A PDE6B
12 auditory receptor cell development GO:0060117 9.61 CLRN1 PDZD7 SLC4A7
13 sensory perception of light stimulus GO:0050953 9.61 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
14 inorganic anion transport GO:0015698 9.6 SLC4A7 SLC4A8
15 anion transport GO:0006820 9.59 SLC4A7 SLC4A8
16 eye photoreceptor cell development GO:0042462 9.58 CRB1 MYO7A
17 GMP metabolic process GO:0046037 9.58 PDE6A PDE6B
18 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.57 PCDH15 PDZD7
19 rhodopsin mediated signaling pathway GO:0016056 9.56 PDE6A PDE6B
20 maintenance of animal organ identity GO:0048496 9.54 ADGRV1 USH2A
21 equilibrioception GO:0050957 9.1 CDH23 CLRN1 MYO7A PCDH15 USH1C USH1G
22 response to stimulus GO:0050896 10.04 ADGRV1 CDH23 CLRN1 OPA1 PDE6A PDE6B
23 visual perception GO:0007601 10.02 ADGRV1 CDH23 CLRN1 MYO7A OPA1 PCDH15

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.73 ERN1 MYO7A PDZD7 USH1G USH2A WHRN
2 calcium ion binding GO:0005509 9.43 ADGRV1 CDH17 CDH23 CRB1 PCDH15 VCAN
3 inorganic anion exchanger activity GO:0005452 9.4 SLC4A7 SLC4A8
4 anion transmembrane transporter activity GO:0008509 9.37 SLC4A7 SLC4A8
5 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 9.32 PDE6A PDE6B
6 sodium:bicarbonate symporter activity GO:0008510 9.16 SLC4A7 SLC4A8
7 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type Iic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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