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

About this section

Aliases & Descriptions for Usher Syndrome, Type 2c:

Name: Usher Syndrome, Type 2c 52 48 12 68
Ush2c 11 48 24 70
Usher Syndrome Type 2c 11 24 13
Usher Syndrome, Type Iic, Gpr98/pdzd7 Digenic 52 24
Usher's Syndrome Type 2c 70 27
 
Usher Syndrome Type Iic 11 70
Usher Syndrome, Type 2c, Gpr98/pdzd7 Digenic 52
Usher Syndrome Type Iic Gpr98/pdzd7 Digenic 70
Usher Syndrome 2c 70
Ush 2c 24

Characteristics:

HPO:

64
usher syndrome, type 2c:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 605472
Disease Ontology11 DOID:0110839
ICD1030 H35.5
MeSH39 D052245

Summaries for Usher Syndrome, Type 2c

About this section
OMIM:52 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 rod-cone dystrophy and congenital sensorineural hearing impairment. An important gene associated with Usher Syndrome, Type 2c is ADGRV1 (Adhesion G Protein-Coupled Receptor V1). Related mouse phenotypes are behavior/neurological and cellular.

Disease Ontology:11 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:70 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

About this section

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)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 2a10.9
2robinow syndrome, autosomal dominant 110.2ADGRV1, MYO7A, USH2A
3pnpla6-related disorders10.1CLRN1, USH2A
4sjogren-larsson syndrome10.1CDH23, MYO7A
5rhizomelic chondrodysplasia punctata type 510.1ADGRV1, CLRN1, MYO7A
6cardiomyopathy, dilated, 1kk10.1MYO7A, PCDH15, USH1C, USH1G
7fanconi anemia, complementation group f10.1CDH23, MYO7A, USH1C, USH1G
8narcissistic personality disorder10.1CDH23, MYO7A, PCDH15, USH1C
9obesity susceptibility, adrb3-related10.0CDH23, MYO7A, USH1C, USH2A
10retinitis pigmentosa 3910.0PDZD7, USH1C, USH2A, WHRN
11manitoba oculotrichoanal syndrome10.0CDH23, MYO7A
12usher syndrome10.0
13pierre robin syndrome10.0CDH23, MYO7A, PCDH15, USH1C, USH1G
14charcot-marie-tooth disease, type 1d10.0CDH17, CDH23, MYO7A, PCDH15
15trichomoniasis9.9CDH23, MYO7A, PCDH15, USH1C, USH2A
16puerperal pulmonary embolism9.9CRB1, MYO7A, PDE6B, USH2A
17deafness, autosomal recessive 239.9CDH17, CDH23, MYO7A, PCDH15, USH1C
18polyhydramnios9.9CRB1, MYO7A, PDE6B, USH1C
19mitochondrial non-syndromic sensorineural deafness9.9CDH23, MYO7A, PCDH15, USH1C, WHRN
20x-linked nonsyndromic deafness9.9CDH23, MYO7A, PCDH15, USH2A, WHRN
21usher syndrome, type 1f9.8ADGRV1, CDH23, MYO7A, PCDH15, USH1C, USH1G
22liver cirrhosis9.8CRB1, MYO7A, PDE6B, USH2A
23adult liposarcoma9.8CRB1, MYO7A, PCDH15, PDE6B, PDZD7, USH2A
24dyskeratosis congenita, autosomal dominant 19.6ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, SLC4A7
2546xy sex reversal 39.5ADGRV1, CDH23, MYO7A, OPA1, PCDH15, PDZD7
26lissencephaly9.4ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, PDZD7
27xeroderma pigmentosum group e9.2ADGRV1, CDH23, CLRN1, MYO7A, OPA1, PCDH15
28deafness, autosomal dominant 119.2ADGRV1, CDH17, CDH23, CLRN1, MYO7A, PCDH15
29sertoli cell-only syndrome9.0ADGRV1, CDH23, CLRN1, CRB1, MYO7A, PCDH15
30peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads7.9ADGRV1, 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

About this section

Symptoms by clinical synopsis from OMIM:

605472

Clinical features from OMIM:

605472

Human phenotypes related to Usher Syndrome, Type 2c:

 64
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy64 HP:0000510
2 congenital sensorineural hearing impairment64 HP:0008527

MGI Mouse Phenotypes related to Usher Syndrome, Type 2c according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.3ADGRV1, CDH23, CLRN1, MYO7A, OPA1, PCDH15
2MP:00053847.9CDH23, CRB1, ERN1, MYO7A, OPA1, PCDH15
3MP:00053777.6ADGRV1, CDH23, CLRN1, MYO7A, OPA1, PCDH15
4MP:00053766.7CDH23, CRB1, ERN1, MYO7A, OPA1, PDE6B
5MP:00036316.4ADGRV1, CDH23, CLRN1, CRB1, MYO7A, OPA1
6MP:00053916.1ADGRV1, CDH23, CLRN1, CRB1, MYO7A, OPA1

Drugs & Therapeutics for Usher Syndrome, Type 2c

About this section

Interventional clinical trials:

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

Genetic Tests for Usher Syndrome, Type 2c

About this section

Genetic tests related to Usher Syndrome, Type 2c:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 2c27
2 Usher Syndrome Type 2c24 ADGRV1, PDZD7

Anatomical Context for Usher Syndrome, Type 2c

About this section

Publications for Usher Syndrome, Type 2c

About this section

Variations for Usher Syndrome, Type 2c

About this section

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

70
id Symbol AA change Variation ID SNP ID
1ADGRV1p.Arg4789TrpVAR_068032
2ADGRV1p.His5978ArgVAR_068033rs756460900

Clinvar genetic disease variations for Usher Syndrome, Type 2c:

5 (show all 39)
id Gene Variation Type Significance SNP ID Assembly Location
1ADGRV1NM_ 032119.3(ADGRV1): c.12403+1G> TSNVLikely pathogenicrs527236132GRCh38Chr 5, 90774304: 90774304
2ADGRV1NM_ 032119.3(ADGRV1): c.15736C> T (p.Arg5246Ter)SNVLikely pathogenicrs527236131GRCh38Chr 5, 90810996: 90810996
3ADGRV1NM_ 032119.3(ADGRV1): c.7006C> T (p.Arg2336Ter)SNVLikely pathogenicrs527236133GRCh38Chr 5, 90692659: 90692659
4ADGRV1NM_ 032119.3(ADGRV1): c.5643delG (p.Tyr1882Ilefs)deletionPathogenicrs727503076GRCh38Chr 5, 90681433: 90681433
5ADGRV1NM_ 032119.3(ADGRV1): c.(?_ 18153)-15_ *(15_ ?)deldeletionPathogenicGRCh37Chr 5, 90368249: 90459732
6ADGRV1NM_ 032119.3(ADGRV1): c.17303_ 17315delGAGATTACATTCG (p.Gly5768Glufs)deletionPathogenicrs727504644GRCh37Chr 5, 90149199: 90149211
7ADGRV1NM_ 032119.3(ADGRV1): c.12631C> T (p.Arg4211Ter)SNVPathogenicrs727504777GRCh37Chr 5, 90073825: 90073825
8ADGRV1NM_ 032119.3(ADGRV1): c.(?_ 4379)_ (4752_ ?)del (p.(?))deletionPathogenicGRCh38Chr 5, 90657905: 90658278
9ADGRV1NM_ 032119.3(ADGRV1): c.10060_ 10063delACAA (p.Thr3354Serfs)deletionPathogenicrs727504978GRCh37Chr 5, 90021372: 90021375
10ADGRV1NM_ 032119.3(ADGRV1): c.5779_ 5783dupACGAG (p.Ser1928Argfs)duplicationPathogenicrs730880369GRCh38Chr 5, 90683700: 90683704
11ADGRV1NM_ 032119.3(ADGRV1): c.4702delA (p.Ser1568Valfs)deletionPathogenicrs794727347GRCh37Chr 5, 89954045: 89954045
12ADGRV1NM_ 032119.3(ADGRV1): c.8204delA (p.Asn2735Metfs)deletionPathogenicrs794727584GRCh37Chr 5, 89999530: 89999530
13ADGRV1NM_ 032119.3(ADGRV1): c.1239-8C> GSNVLikely pathogenicrs869312178GRCh37Chr 5, 89924371: 89924371
14ADGRV1NM_ 032119.3: c.16079-1455_ c.16196+155deldeletionLikely pathogenic
15ADGRV1NM_ 032119.3(ADGRV1): c.12101T> G (p.Phe4034Cys)SNVLikely pathogenicrs876657647GRCh38Chr 5, 90759569: 90759569
16ADGRV1NM_ 032119.3(ADGRV1): c.14885G> A (p.Trp4962Ter)SNVPathogenicrs876657694GRCh37Chr 5, 90103467: 90103467
17ADGRV1NM_ 032119.3(ADGRV1): c.1701delC (p.Leu568Cysfs)deletionPathogenicrs876657695GRCh37Chr 5, 89925218: 89925218
18ADGRV1NM_ 032119.3(ADGRV1): c.7129C> T (p.Arg2377Ter)SNVPathogenicrs758718347GRCh37Chr 5, 89988599: 89988599
19ADGRV1NM_ 032119.3(ADGRV1): c.7606G> T (p.Glu2536Ter)SNVPathogenicrs886039893GRCh38Chr 5, 90694362: 90694362
20ADGRV1NM_ 032119.3(ADGRV1): c.12436C> T (p.Arg4146Ter)SNVLikely pathogenicrs369793306GRCh38Chr 5, 90776485: 90776485
21ADGRV1NM_ 032119.3(ADGRV1): c.10426G> A (p.Gly3476Arg)SNVPathogenicrs1060499795GRCh37Chr 5, 90024750: 90024750
22ADGRV1NM_ 032119.3(ADGRV1): c.2898G> A (p.Glu966=)SNVPathogenicrs1060499796GRCh37Chr 5, 89940686: 89940686
23ADGRV1NM_ 032119.3(ADGRV1): c.10229_ 10231dupTGG (p.Val3410_ Ala3411insVal)duplicationLikely pathogenicrs397517418GRCh37Chr 5, 90024553: 90024555
24ADGRV1NM_ 032119.3(ADGRV1): c.11253C> G (p.Tyr3751Ter)SNVPathogenicrs376689763GRCh37Chr 5, 90049522: 90049522
25ADGRV1NM_ 032119.3(ADGRV1): c.14973-2A> GSNVPathogenicrs371981035GRCh37Chr 5, 90106048: 90106048
26ADGRV1NM_ 032119.3(ADGRV1): c.17662delT (p.Ser5888Hisfs)deletionPathogenicrs397517426GRCh37Chr 5, 90151625: 90151625
27ADGRV1NM_ 032119.3(ADGRV1): c.2398C> T (p.Arg800Ter)SNVPathogenicrs373780305GRCh37Chr 5, 89938703: 89938703
28ADGRV1NM_ 032119.3(ADGRV1): c.2870dupA (p.Asn957Lysfs)duplicationPathogenicrs397517429GRCh37Chr 5, 89940658: 89940658
29ADGRV1NM_ 032119.3(ADGRV1): c.7374_ 7375delTG (p.Glu2459Glyfs)deletionPathogenicrs397517435GRCh37Chr 5, 89989947: 89989948
30ADGRV1NM_ 032119.3(ADGRV1): c.7406G> A (p.Trp2469Ter)SNVPathogenicrs397517436GRCh37Chr 5, 89989979: 89989979
31ADGRV1NM_ 032119.3(ADGRV1): c.8737delG (p.Val2913Tyrfs)deletionPathogenicrs397517441GRCh37Chr 5, 90004639: 90004639
32ADGRV1NM_ 032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter)SNVPathogenic/ Likely pathogenicrs121909762GRCh37Chr 5, 89986808: 89986808
33ADGRV1NM_ 032119.3(ADGRV1): c.8713_ 8716dupAACA (p.Ile2906Lysfs)duplicationPathogenicrs796051863GRCh38Chr 5, 90706377: 90706380
34ADGRV1NM_ 032119.3(ADGRV1): c.8790delC (p.Met2931Trpfs)deletionPathogenicrs796051864GRCh38Chr 5, 90708875: 90708875
35ADGRV1NM_ 032119.3(ADGRV1): c.18732_ 18750del19 (p.Tyr6244Terfs)deletionPathogenicrs796051865GRCh38Chr 5, 91153328: 91153346
36ADGRV1NM_ 032119.3(ADGRV1): c.18131A> G (p.Tyr6044Cys)SNVPathogenicrs121909763GRCh37Chr 5, 90281318: 90281318
37ADGRV1NG_ 007083.1: g.371658_ 507674deldeletionPathogenicGRCh38Chr 5, 90925457: 91061473
38ADGRV1NM_ 032119.3(ADGRV1): c.2258_ 2270delAAGTGCTGAAATC (p.Gln753Leufs)deletionPathogenicrs796051866GRCh38Chr 5, 90642653: 90642665
39ADGRV1NM_ 032119.3(ADGRV1): c.5357_ 5358delAA (p.Lys1786Ilefs)deletionPathogenicrs796051867GRCh38Chr 5, 90676123: 90676124

Expression for genes affiliated with Usher Syndrome, Type 2c

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

Pathways for genes affiliated with Usher Syndrome, Type 2c

About this section

GO Terms for genes affiliated with Usher Syndrome, Type 2c

About this section

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:009738110.5PDE6A, PDE6B
2periciliary membrane compartmentGO:199007510.5USH2A, WHRN
3photoreceptor outer segmentGO:000175010.5MYO7A, PCDH15, USH1C
4stereocilia ankle link complexGO:000214210.4USH2A, WHRN
5ciliary basal bodyGO:003606410.3USH1G, USH2A, WHRN
6stereocilia ankle linkGO:000214110.2PDZD7, USH2A, WHRN
7stereocilium bundleGO:003242110.2PCDH15, USH2A, WHRN
8apical plasma membraneGO:001632410.1CRB1, MYO7A, SLC4A7, USH2A
9microvillusGO:000590210.0CLRN1, CRB1, MYO7A, USH1C
10photoreceptor connecting ciliumGO:003239110.0MYO7A, USH1G, USH2A, WHRN
11photoreceptor inner segmentGO:00019179.8MYO7A, USH1C, USH1G, USH2A, WHRN
12USH2 complexGO:19906969.5PDZD7, USH2A, WHRN
13synapseGO:00452029.2ADGRV1, MYO7A, PCDH15, SLC4A7, USH1C
14stereociliumGO:00324208.8ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, SLC4A7
15plasma membraneGO:00058866.9ADGRV1, CDH17, CDH23, CLRN1, CRB1, PCDH15
16membraneGO:00160205.7ADGRV1, CDH17, CDH23, CLRN1, CRB1, ERN1

Biological processes related to Usher Syndrome, Type 2c according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1maintenance of animal organ identityGO:004849610.8ADGRV1, USH2A
2detection of mechanical stimulus involved in sensory perception of soundGO:005091010.8PCDH15, PDZD7
3eye photoreceptor cell developmentGO:004246210.5CRB1, MYO7A
4GMP metabolic processGO:004603710.5PDE6A, PDE6B
5regulation of rhodopsin mediated signaling pathwayGO:002240010.4PDE6A, PDE6B
6auditory receptor cell differentiationGO:004249110.4MYO7A, PCDH15, USH1C
7inner ear receptor cell differentiationGO:006011310.4MYO7A, USH1G, USH2A
8inner ear morphogenesisGO:004247210.4MYO7A, USH1C, USH1G
9calcium-dependent cell-cell adhesion via plasma membrane cell adhesion moleculesGO:001633910.4CDH17, CDH23
10rhodopsin mediated signaling pathwayGO:001605610.4PDE6A, PDE6B
11auditory receptor cell developmentGO:006011710.4CLRN1, PDZD7, SLC4A7
12anion transportGO:000682010.3SLC4A7, SLC4A8
13inorganic anion transportGO:001569810.3SLC4A7, SLC4A8
14establishment of protein localizationGO:004518410.3PDZD7, USH2A, WHRN
15regulation of cytosolic calcium ion concentrationGO:005148010.2CDH23, PDE6A, PDE6B
16auditory receptor cell stereocilium organizationGO:00600889.6CLRN1, MYO7A, PCDH15, PDZD7, WHRN
17equilibrioceptionGO:00509579.6CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G
18photoreceptor cell maintenanceGO:00454949.5ADGRV1, CDH23, CLRN1, PCDH15, USH1C, USH1G
19inner ear receptor stereocilium organizationGO:00601229.4CDH23, MYO7A, PCDH15, USH1C, USH1G, WHRN
20response to stimulusGO:00508969.1ADGRV1, CDH23, CLRN1, OPA1, PDE6A, PDE6B
21sensory perception of light stimulusGO:00509538.6ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
22sensory perception of soundGO:00076058.5ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
23visual perceptionGO:00076018.0ADGRV1, CDH23, CLRN1, MYO7A, OPA1, PCDH15

Molecular functions related to Usher Syndrome, Type 2c according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:004755510.5PDE6A, PDE6B
2anion transmembrane transporter activityGO:000850910.3SLC4A7, SLC4A8
3inorganic anion exchanger activityGO:000545210.3SLC4A7, SLC4A8
4spectrin bindingGO:00305079.7MYO7A, USH1C, USH1G
5calcium ion bindingGO:00055099.1ADGRV1, CDH17, CDH23, CRB1, PCDH15, VCAN
6protein homodimerization activityGO:00428038.5ERN1, MYO7A, PDZD7, USH1G, USH2A, WHRN

Sources for Usher Syndrome, Type 2c

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet