USH2C
MCID: USH012
MIFTS: 39

Usher Syndrome, Type 2c (USH2C) malady

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

Aliases & Classifications for Usher Syndrome, Type 2c

Aliases & Descriptions for Usher Syndrome, Type 2c:

Name: Usher Syndrome, Type 2c 54 50 13 69
Ush2c 12 50 24 66
Usher Syndrome Type 2c 12 24 14
Usher Syndrome, Type Iic, Gpr98/pdzd7 Digenic 54 24
Usher's Syndrome Type 2c 66 29
Usher Syndrome Type Iic 12 66
Usher Syndrome, Type 2c, Gpr98/pdzd7 Digenic 54
Usher Syndrome Type Iic Gpr98/pdzd7 Digenic 66
Usher Syndrome 2c 66
Ush 2c 24

Characteristics:

HPO:

32
usher syndrome, type 2c:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 605472
Disease Ontology 12 DOID:0110839
ICD10 33 H35.5
MeSH 42 D052245

Summaries for Usher Syndrome, Type 2c

OMIM : 54 Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by... (605472) more...

MalaCards based summary : Usher Syndrome, Type 2c, also known as ush2c, is related to usher syndrome, type 2a and robinow syndrome, autosomal dominant 1, and has symptoms including congenital sensorineural hearing impairment and rod-cone dystrophy. An important gene associated with Usher Syndrome, Type 2c is ADGRV1 (Adhesion G Protein-Coupled Receptor V1). Related phenotypes are behavior/neurological and hearing/vestibular/ear

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.

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Usher Syndrome, Type 2c

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 2c via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
id Related Disease Score Top Affiliating Genes
1 usher syndrome, type 2a 10.9
2 robinow syndrome, autosomal dominant 1 10.2 ADGRV1 MYO7A USH2A
3 pnpla6-related disorders 10.1 CLRN1 USH2A
4 sjogren-larsson syndrome 10.1 CDH23 MYO7A
5 rhizomelic chondrodysplasia punctata type 5 10.1 ADGRV1 CLRN1 MYO7A
6 cardiomyopathy, dilated, 1kk 10.1 MYO7A PCDH15 USH1C USH1G
7 fanconi anemia, complementation group f 10.1 CDH23 MYO7A USH1C USH1G
8 narcissistic personality disorder 10.1 CDH23 MYO7A PCDH15 USH1C
9 obesity susceptibility, adrb3-related 10.0 CDH23 MYO7A USH1C USH2A
10 retinitis pigmentosa 39 10.0 PDZD7 USH1C USH2A WHRN
11 manitoba oculotrichoanal syndrome 10.0 CDH23 MYO7A
12 usher syndrome 10.0
13 pierre robin syndrome 10.0 CDH23 MYO7A PCDH15 USH1C USH1G
14 charcot-marie-tooth disease, type 1d 10.0 CDH17 CDH23 MYO7A PCDH15
15 trichomoniasis 9.9 CDH23 MYO7A PCDH15 USH1C USH2A
16 puerperal pulmonary embolism 9.9 CRB1 MYO7A PDE6B USH2A
17 deafness, autosomal recessive 23 9.9 CDH17 CDH23 MYO7A PCDH15 USH1C
18 polyhydramnios 9.9 CRB1 MYO7A PDE6B USH1C
19 mitochondrial non-syndromic sensorineural deafness 9.9 CDH23 MYO7A PCDH15 USH1C WHRN
20 x-linked nonsyndromic deafness 9.9 CDH23 MYO7A PCDH15 USH2A WHRN
21 usher syndrome, type 1f 9.8 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
22 liver cirrhosis 9.8 CRB1 MYO7A PDE6B USH2A
23 adult liposarcoma 9.8 CRB1 MYO7A PCDH15 PDE6B PDZD7 USH2A
24 dyskeratosis congenita, autosomal dominant 1 9.6 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
25 46xy sex reversal 3 9.5 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
26 lissencephaly 9.4 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 PDZD7
27 xeroderma pigmentosum group e 9.2 ADGRV1 CDH23 CLRN1 MYO7A OPA1 PCDH15
28 deafness, autosomal dominant 11 9.2 ADGRV1 CDH17 CDH23 CLRN1 MYO7A PCDH15
29 sertoli cell-only syndrome 9.0 ADGRV1 CDH23 CLRN1 CRB1 MYO7A PCDH15
30 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 7.9 ADGRV1 CDH17 CDH23 CLRN1 CRB1 ERN1

Graphical network of the top 20 diseases related to Usher Syndrome, Type 2c:



Diseases related to Usher Syndrome, Type 2c

Symptoms & Phenotypes for Usher Syndrome, Type 2c

Symptoms by clinical synopsis from OMIM:

605472

Clinical features from OMIM:

605472

Human phenotypes related to Usher Syndrome, Type 2c:

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

MGI Mouse Phenotypes related to Usher Syndrome, Type 2c:

44
id 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 SLC4A7 USH1C USH1G USH2A WHRN ADGRV1
3 cellular MP:0005384 10.02 CDH23 CRB1 ERN1 MYO7A OPA1 PCDH15
4 homeostasis/metabolism MP:0005376 9.9 CRB1 ERN1 MYO7A OPA1 PDE6B SLC4A7
5 nervous system MP:0003631 9.86 PDZD7 SLC4A7 USH1C USH1G USH2A VCAN
6 vision/eye MP:0005391 9.5 ADGRV1 CDH23 CLRN1 CRB1 MYO7A OPA1

Drugs & Therapeutics for Usher Syndrome, Type 2c

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type 2c

Genetic Tests for Usher Syndrome, Type 2c

Genetic tests related to Usher Syndrome, Type 2c:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 2c 29
2 Usher Syndrome Type 2c 24 ADGRV1 PDZD7

Anatomical Context for Usher Syndrome, Type 2c

Publications for Usher Syndrome, Type 2c

Variations for Usher Syndrome, Type 2c

UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 2c:

66
id 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 2c:

6 (show all 39)
id Gene Variation Type Significance SNP ID Assembly Location
1 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808
2 ADGRV1 NM_032119.3(ADGRV1): c.8713_8716dupAACA (p.Ile2906Lysfs) duplication Pathogenic rs796051863 GRCh38 Chromosome 5, 90706377: 90706380
3 ADGRV1 NM_032119.3(ADGRV1): c.8790delC (p.Met2931Trpfs) deletion Pathogenic rs796051864 GRCh38 Chromosome 5, 90708875: 90708875
4 ADGRV1 NM_032119.3(ADGRV1): c.18732_18750del19 (p.Tyr6244Terfs) deletion Pathogenic rs796051865 GRCh38 Chromosome 5, 91153328: 91153346
5 ADGRV1 NM_032119.3(ADGRV1): c.18131A> G (p.Tyr6044Cys) single nucleotide variant Pathogenic rs121909763 GRCh37 Chromosome 5, 90281318: 90281318
6 ADGRV1 NG_007083.1: g.371658_507674del deletion Pathogenic GRCh38 Chromosome 5, 90925457: 91061473
7 ADGRV1 NM_032119.3(ADGRV1): c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs) deletion Pathogenic rs796051866 GRCh38 Chromosome 5, 90642653: 90642665
8 ADGRV1 NM_032119.3(ADGRV1): c.5357_5358delAA (p.Lys1786Ilefs) deletion Pathogenic rs796051867 GRCh38 Chromosome 5, 90676123: 90676124
9 ADGRV1 NM_032119.3(ADGRV1): c.10229_10231dupTGG (p.Val3410_Ala3411insVal) duplication Likely pathogenic rs397517418 GRCh37 Chromosome 5, 90024553: 90024555
10 ADGRV1 NM_032119.3(ADGRV1): c.11253C> G (p.Tyr3751Ter) single nucleotide variant Pathogenic rs376689763 GRCh37 Chromosome 5, 90049522: 90049522
11 ADGRV1 NM_032119.3(ADGRV1): c.14973-2A> G single nucleotide variant Pathogenic rs371981035 GRCh37 Chromosome 5, 90106048: 90106048
12 ADGRV1 NM_032119.3(ADGRV1): c.17662delT (p.Ser5888Hisfs) deletion Pathogenic rs397517426 GRCh37 Chromosome 5, 90151625: 90151625
13 ADGRV1 NM_032119.3(ADGRV1): c.2398C> T (p.Arg800Ter) single nucleotide variant Pathogenic rs373780305 GRCh37 Chromosome 5, 89938703: 89938703
14 ADGRV1 NM_032119.3(ADGRV1): c.2870dupA (p.Asn957Lysfs) duplication Pathogenic rs397517429 GRCh37 Chromosome 5, 89940658: 89940658
15 ADGRV1 NM_032119.3(ADGRV1): c.7374_7375delTG (p.Glu2459Glyfs) deletion Pathogenic rs397517435 GRCh37 Chromosome 5, 89989947: 89989948
16 ADGRV1 NM_032119.3(ADGRV1): c.7406G> A (p.Trp2469Ter) single nucleotide variant Pathogenic rs397517436 GRCh37 Chromosome 5, 89989979: 89989979
17 ADGRV1 NM_032119.3(ADGRV1): c.8737delG (p.Val2913Tyrfs) deletion Pathogenic rs397517441 GRCh37 Chromosome 5, 90004639: 90004639
18 ADGRV1 NM_032119.3(ADGRV1): c.12403+1G> T single nucleotide variant Likely pathogenic rs527236132 GRCh38 Chromosome 5, 90774304: 90774304
19 ADGRV1 NM_032119.3(ADGRV1): c.15736C> T (p.Arg5246Ter) single nucleotide variant Likely pathogenic rs527236131 GRCh38 Chromosome 5, 90810996: 90810996
20 ADGRV1 NM_032119.3(ADGRV1): c.7006C> T (p.Arg2336Ter) single nucleotide variant Likely pathogenic rs527236133 GRCh38 Chromosome 5, 90692659: 90692659
21 ADGRV1 NM_032119.3(ADGRV1): c.(?_4379)_(4752_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome 5, 90657905: 90658278
22 ADGRV1 NM_032119.3(ADGRV1): c.(?_18153)-15_*(15_?)del deletion Pathogenic GRCh37 Chromosome 5, 90368249: 90459732
23 ADGRV1 NM_032119.3(ADGRV1): c.5643delG (p.Tyr1882Ilefs) deletion Pathogenic rs727503076 GRCh38 Chromosome 5, 90681433: 90681433
24 ADGRV1 NM_032119.3(ADGRV1): c.10060_10063delACAA (p.Thr3354Serfs) deletion Pathogenic rs727504978 GRCh37 Chromosome 5, 90021372: 90021375
25 ADGRV1 NM_032119.3(ADGRV1): c.12631C> T (p.Arg4211Ter) single nucleotide variant Pathogenic rs727504777 GRCh37 Chromosome 5, 90073825: 90073825
26 ADGRV1 NM_032119.3(ADGRV1): c.17303_17315delGAGATTACATTCG (p.Gly5768Glufs) deletion Pathogenic rs727504644 GRCh37 Chromosome 5, 90149199: 90149211
27 ADGRV1 NM_032119.3(ADGRV1): c.5779_5783dupACGAG (p.Ser1928Argfs) duplication Pathogenic rs730880369 GRCh38 Chromosome 5, 90683700: 90683704
28 ADGRV1 NM_032119.3(ADGRV1): c.4702delA (p.Ser1568Valfs) deletion Pathogenic rs794727347 GRCh37 Chromosome 5, 89954045: 89954045
29 ADGRV1 NM_032119.3(ADGRV1): c.8204delA (p.Asn2735Metfs) deletion Pathogenic rs794727584 GRCh37 Chromosome 5, 89999530: 89999530
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 GRCh37 Chromosome 5, 89925218: 89925218
33 ADGRV1 NM_032119.3(ADGRV1): c.7129C> T (p.Arg2377Ter) single nucleotide variant Pathogenic rs758718347 GRCh37 Chromosome 5, 89988599: 89988599
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 GRCh37 Chromosome 5, 90103467: 90103467
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 2c

Search GEO for disease gene expression data for Usher Syndrome, Type 2c.

Pathways for Usher Syndrome, Type 2c

GO Terms for Usher Syndrome, Type 2c

Cellular components related to Usher Syndrome, Type 2c according to GeneCards Suite gene sharing:

(show all 16)
id 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 USH2 complex GO:1990696 9.43 PDZD7 USH2A WHRN
12 photoreceptor inner segment GO:0001917 9.35 MYO7A USH1C USH1G USH2A WHRN
13 stereocilia ankle link GO:0002141 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 2c according to GeneCards Suite gene sharing:

(show all 23)
id 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 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 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 regulation of rhodopsin mediated signaling pathway GO:0022400 9.61 PDE6A PDE6B
11 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.61 CDH17 CDH23
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 2c according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.63 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 9.37 SLC4A7 SLC4A8
4 anion transmembrane transporter activity GO:0008509 9.32 SLC4A7 SLC4A8
5 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 9.26 PDE6A PDE6B
6 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type 2c

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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34 ICD10 via Orphanet
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65 SNOMED-CT via Orphanet
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