MCID: USH012
MIFTS: 28

Usher Syndrome, Type 2c malady

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

Aliases & Classifications for Usher Syndrome, Type 2c

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Aliases & Descriptions for Usher Syndrome, Type 2c:

Name: Usher Syndrome, Type 2c 51 47 12 67
Ush2c 47 24 69
Usher Syndrome, Type Iic, Gpr98/pdzd7 Digenic 51 24
Usher's Syndrome Type 2c 69 26
Usher Syndrome, Type 2c, Gpr98/pdzd7 Digenic 51
 
Usher Syndrome Type Iic Gpr98/pdzd7 Digenic 69
Usher Syndrome Type Iic 69
Usher Syndrome Type 2c 24
Usher Syndrome 2c 69
Ush 2c 24

Characteristics:

HPO:

63
usher syndrome, type 2c:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 605472
MeSH38 D052245

Summaries for Usher Syndrome, Type 2c

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OMIM:51 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 usher syndrome, 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 hearing/vestibular/ear and vision/eye.

NIH Rare Diseases:47 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III.  The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. Last updated: 3/3/2014

UniProtKB/Swiss-Prot:69 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

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



Diseases related to usher syndrome, type 2c

Symptoms for Usher Syndrome, Type 2c

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Symptoms by clinical synopsis from OMIM:

605472

Clinical features from OMIM:

605472

Human phenotypes related to Usher Syndrome, Type 2c:

 63
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy63 HP:0000510
2 congenital sensorineural hearing impairment63 HP:0008527

Drugs & Therapeutics for Usher Syndrome, Type 2c

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Interventional clinical trials:

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

Genetic Tests for Usher Syndrome, Type 2c

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Genetic tests related to Usher Syndrome, Type 2c:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 2c26
2 Usher Syndrome Type 2c24 ADGRV1, PDZD7

Anatomical Context for Usher Syndrome, Type 2c

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Animal Models for Usher Syndrome, Type 2c or affiliated genes

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.9ADGRV1, PDZD7
2MP:00053919.1ADGRV1, PDZD7

Publications for Usher Syndrome, Type 2c

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Variations for Usher Syndrome, Type 2c

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

69
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 36)
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)deletionPathogenicrs727503076GRCh37Chr 5, 89977250: 89977250
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)deletionPathogenicrs727504978GRCh38Chr 5, 90725555: 90725558
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 pathogenicChr na, -1: -1
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)deletionPathogenicrs876657695GRCh38Chr 5, 90629401: 90629401
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.10229_10231dupTGG (p.Val3410_Ala3411insVal)duplicationLikely pathogenicrs397517418GRCh37Chr 5, 90024553: 90024555
21ADGRV1NM_032119.3(ADGRV1): c.11253C> G (p.Tyr3751Ter)SNVPathogenicrs376689763GRCh37Chr 5, 90049522: 90049522
22ADGRV1NM_032119.3(ADGRV1): c.14973-2A> GSNVPathogenicrs371981035GRCh37Chr 5, 90106048: 90106048
23ADGRV1NM_032119.3(ADGRV1): c.17662delT (p.Ser5888Hisfs)deletionPathogenicrs397517426GRCh37Chr 5, 90151625: 90151625
24ADGRV1NM_032119.3(ADGRV1): c.2398C> T (p.Arg800Ter)SNVPathogenicrs373780305GRCh37Chr 5, 89938703: 89938703
25ADGRV1NM_032119.3(ADGRV1): c.2870dupA (p.Asn957Lysfs)duplicationPathogenicrs397517429GRCh37Chr 5, 89940658: 89940658
26ADGRV1NM_032119.3(ADGRV1): c.7374_7375delTG (p.Glu2459Glyfs)deletionPathogenicrs397517435GRCh37Chr 5, 89989947: 89989948
27ADGRV1NM_032119.3(ADGRV1): c.7406G> A (p.Trp2469Ter)SNVPathogenicrs397517436GRCh37Chr 5, 89989979: 89989979
28ADGRV1NM_032119.3(ADGRV1): c.8737delG (p.Val2913Tyrfs)deletionPathogenicrs397517441GRCh37Chr 5, 90004639: 90004639
29ADGRV1NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter)SNVLikely pathogenic, Pathogenicrs121909762GRCh37Chr 5, 89986808: 89986808
30ADGRV1NM_032119.3(ADGRV1): c.8713_8716dupAACA (p.Ile2906Lysfs)duplicationPathogenicrs796051863GRCh38Chr 5, 90706377: 90706380
31ADGRV1NM_032119.3(ADGRV1): c.8790delC (p.Met2931Trpfs)deletionPathogenicrs796051864GRCh38Chr 5, 90708875: 90708875
32ADGRV1NM_032119.3(ADGRV1): c.18732_18750del19 (p.Tyr6244Terfs)deletionPathogenicrs796051865GRCh38Chr 5, 91153328: 91153346
33ADGRV1NM_032119.3(ADGRV1): c.18131A> G (p.Tyr6044Cys)SNVPathogenicrs121909763GRCh37Chr 5, 90281318: 90281318
34ADGRV1NG_007083.1: g.371658_507674deldeletionPathogenicGRCh38Chr 5, 90925457: 91061473
35ADGRV1NM_032119.3(ADGRV1): c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs)deletionPathogenicrs796051866GRCh38Chr 5, 90642653: 90642665
36ADGRV1NM_032119.3(ADGRV1): c.5357_5358delAA (p.Lys1786Ilefs)deletionPathogenicrs796051867GRCh38Chr 5, 90676123: 90676124

Expression for genes affiliated with Usher Syndrome, Type 2c

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

Pathways for genes affiliated with Usher Syndrome, Type 2c

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

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Sources for Usher Syndrome, Type 2c

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet