MCID: USH012
MIFTS: 29

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 50 46 12 66
Ush2c 46 23 68
Usher Syndrome, Type Iic, Gpr98/pdzd7 Digenic 50 23
Usher's Syndrome Type 2c 68 25
Usher Syndrome, Type 2c, Gpr98/pdzd7 Digenic 50
 
Usher Syndrome Type Iic Gpr98/pdzd7 Digenic 68
Usher Syndrome Type Iic 68
Usher Syndrome Type 2c 23
Usher Syndrome 2c 68
Ush 2c 23

Characteristics:

HPO:

62
usher syndrome, type 2c:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 605472
MeSH37 D052245

Summaries for Usher Syndrome, Type 2c

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OMIM:50 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 and usher syndrome, type 2a, 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 phenotype hearing/vestibular/ear.

NIH Rare Diseases:46 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:68 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

HPO human phenotypes related to Usher Syndrome, Type 2c:

id Description Frequency HPO Source Accession
1 rod-cone dystrophy HP:0000510
2 congenital sensorineural hearing impairment 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 2c25
2 Usher Syndrome Type 2c23 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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0ADGRV1, 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:

68
id Symbol AA change Variation ID SNP ID
1ADGRV1p.Arg4789TrpVAR_068032
2ADGRV1p.His5978ArgVAR_068033

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

5 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1ADGRV1NM_032119.3(ADGRV1): c.12403+1G> Tsingle nucleotide variantLikely pathogenicrs527236132GRCh38Chr 5, 90774304: 90774304
2ADGRV1NM_032119.3(ADGRV1): c.15736C> T (p.Arg5246Ter)single nucleotide variantLikely pathogenicrs527236131GRCh38Chr 5, 90810996: 90810996
3ADGRV1NM_032119.3(ADGRV1): c.7006C> T (p.Arg2336Ter)single nucleotide variantLikely 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)deletionPathogenicrs727504644GRCh38Chr 5, 90853382: 90853394
7ADGRV1NM_032119.3(ADGRV1): c.12631C> T (p.Arg4211Ter)single nucleotide variantPathogenicrs727504777GRCh38Chr 5, 90778008: 90778008
8ADGRV1NM_032119.3(ADGRV1): c.(?_4379)_(4752_?)del (p.(?))deletionPathogenicGRCh37Chr 5, 89953722: 89954095
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> Gsingle nucleotide variantLikely pathogenicrs869312178GRCh37Chr 5, 89924371: 89924371
14ADGRV1NM_032119.3: c.16079-1455_c.16196+155deldeletionLikely pathogenic
15ADGRV1NM_032119.3(ADGRV1): c.12101T> G (p.Phe4034Cys)single nucleotide variantLikely pathogenicrs876657647GRCh38Chr 5, 90759569: 90759569
16ADGRV1NM_032119.3(ADGRV1): c.14885G> A (p.Trp4962Ter)single nucleotide variantPathogenicrs876657694GRCh37Chr 5, 90103467: 90103467
17ADGRV1NM_032119.3(ADGRV1): c.1701delC (p.Leu568Cysfs)deletionPathogenicrs876657695GRCh37Chr 5, 89925218: 89925218
18ADGRV1NM_032119.3(ADGRV1): c.7129C> T (p.Arg2377Ter)single nucleotide variantPathogenicrs758718347GRCh37Chr 5, 89988599: 89988599
19ADGRV1NM_032119.3(ADGRV1): c.10229_10231dupTGG (p.Val3410_Ala3411insVal)duplicationLikely pathogenicrs397517418GRCh37Chr 5, 90024553: 90024555
20ADGRV1NM_032119.3(ADGRV1): c.11253C> G (p.Tyr3751Ter)single nucleotide variantPathogenicrs376689763GRCh37Chr 5, 90049522: 90049522
21ADGRV1NM_032119.3(ADGRV1): c.14973-2A> Gsingle nucleotide variantPathogenicrs371981035GRCh37Chr 5, 90106048: 90106048
22ADGRV1NM_032119.3(ADGRV1): c.17662delT (p.Ser5888Hisfs)deletionPathogenicrs397517426GRCh37Chr 5, 90151625: 90151625
23ADGRV1NM_032119.3(ADGRV1): c.2398C> T (p.Arg800Ter)single nucleotide variantPathogenicrs373780305GRCh37Chr 5, 89938703: 89938703
24ADGRV1NM_032119.3(ADGRV1): c.2870dupA (p.Asn957Lysfs)duplicationPathogenicrs397517429GRCh37Chr 5, 89940658: 89940658
25ADGRV1NM_032119.3(ADGRV1): c.7374_7375delTG (p.Glu2459Glyfs)deletionPathogenicrs397517435GRCh37Chr 5, 89989947: 89989948
26ADGRV1NM_032119.3(ADGRV1): c.7406G> A (p.Trp2469Ter)single nucleotide variantPathogenicrs397517436GRCh37Chr 5, 89989979: 89989979
27ADGRV1NM_032119.3(ADGRV1): c.8737delG (p.Val2913Tyrfs)deletionPathogenicrs397517441GRCh37Chr 5, 90004639: 90004639
28ADGRV1NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter)single nucleotide variantPathogenicrs121909762GRCh37Chr 5, 89986808: 89986808
29ADGRV1NM_032119.3(ADGRV1): c.8713_8716dupAACA (p.Ile2906Lysfs)duplicationPathogenicrs796051863GRCh38Chr 5, 90706377: 90706380
30ADGRV1NM_032119.3(ADGRV1): c.8790delC (p.Met2931Trpfs)deletionPathogenicrs796051864GRCh38Chr 5, 90708875: 90708875
31ADGRV1NM_032119.3(ADGRV1): c.18732_18750del19 (p.Tyr6244Terfs)deletionPathogenicrs796051865GRCh38Chr 5, 91153328: 91153346
32ADGRV1NM_032119.3(ADGRV1): c.18131A> G (p.Tyr6044Cys)single nucleotide variantPathogenicrs121909763GRCh37Chr 5, 90281318: 90281318
33ADGRV1NG_007083.1: g.371658_507674deldeletionPathogenicGRCh38Chr 5, 90925457: 91061473
34ADGRV1NM_032119.3(ADGRV1): c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs)deletionPathogenicrs796051866GRCh38Chr 5, 90642653: 90642665
35ADGRV1NM_032119.3(ADGRV1): c.5357_5358delAA (p.Lys1786Ilefs)deletionPathogenicrs796051867GRCh37Chr 5, 89971940: 89971941

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet