MCID: USH011
MIFTS: 19

Usher Syndrome, Type 2b

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

Aliases & Classifications for Usher Syndrome, Type 2b

MalaCards integrated aliases for Usher Syndrome, Type 2b:

Name: Usher Syndrome, Type 2b 20 6
Ush2b 20
Us2b 20

Classifications:



Summaries for Usher Syndrome, Type 2b

MalaCards based summary : Usher Syndrome, Type 2b, also known as ush2b, is related to retinitis pigmentosa-deafness syndrome and usher syndrome. An important gene associated with Usher Syndrome, Type 2b is ADGRV1 (Adhesion G Protein-Coupled Receptor V1).

Related Diseases for Usher Syndrome, Type 2b

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



Diseases related to Usher Syndrome, Type 2b

Symptoms & Phenotypes for Usher Syndrome, Type 2b

Drugs & Therapeutics for Usher Syndrome, Type 2b

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

Genetic Tests for Usher Syndrome, Type 2b

Anatomical Context for Usher Syndrome, Type 2b

Publications for Usher Syndrome, Type 2b

Articles related to Usher Syndrome, Type 2b:

(show all 11)
# Title Authors PMID Year
1
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. 6 61
18854872 2009
2
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. 61 6
14740321 2004
3
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. 6 61
10234513 1999
4
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. 6
19357116 2009
5
GPR98 mutations cause Usher syndrome type 2 in males. 6
19357117 2009
6
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. 61
16545802 2006
7
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. 61
16301216 2005
8
Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome. 61
11950859 2002
9
Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family. 61
11247665 2001
10
The usher syndromes. 61
10704190 1999
11
Further refinement of the Usher 2A locus at 1q41. 61
9733039 1998

Variations for Usher Syndrome, Type 2b

ClinVar genetic disease variations for Usher Syndrome, Type 2b:

6 (show top 50) (show all 484)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADGRV1 NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs) Duplication Pathogenic 6799 rs796051863 5:90002193-90002194 5:90706376-90706377
2 ADGRV1 NM_032119.4(ADGRV1):c.8790del (p.Met2931fs) Deletion Pathogenic 6800 rs796051864 5:90004691-90004691 5:90708874-90708874
3 ADGRV1 NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer) Deletion Pathogenic 6801 rs796051865 5:90449141-90449159 5:91153324-91153342
4 ADGRV1 NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys) SNV Pathogenic 6802 rs121909763 5:90281318-90281318 5:90985501-90985501
5 ADGRV1 NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs) Deletion Pathogenic 6804 rs796051866 5:89938469-89938481 5:90642652-90642664
6 ADGRV1 NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs) Deletion Pathogenic 6805 rs796051867 5:89971939-89971940 5:90676122-90676123
7 ADGRV1 NG_007083.1:g.371658_507674del Deletion Pathogenic 6803 5:90221274-90357290 5:90925457-91061473
8 ADGRV1 NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter) SNV Pathogenic 266014 rs886039893 5:89990179-89990179 5:90694362-90694362
9 ADGRV1 NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) SNV Pathogenic 46306 rs373780305 5:89938703-89938703 5:90642886-90642886
10 ADGRV1 NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) SNV Pathogenic 6798 rs121909762 5:89986808-89986808 5:90690991-90690991
11 ADGRV1 NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) SNV Pathogenic 503694 rs747622607 5:90144496-90144496 5:90848679-90848679
12 ADGRV1 NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) SNV Pathogenic 402256 rs1060499795 5:90024750-90024750 5:90728933-90728933
13 ADGRV1 NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) SNV Pathogenic 402257 rs1060499796 5:89940686-89940686 5:90644869-90644869
14 ADGRV1 NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter) SNV Pathogenic 545416 rs1561416879 5:89925125-89925125 5:90629308-90629308
15 ADGRV1 NM_032119.4(ADGRV1):c.11122-1G>C SNV Pathogenic 599115 rs1561660434 5:90049390-90049390 5:90753573-90753573
16 ADGRV1 NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter) SNV Pathogenic 627429 rs1561441451 5:89938532-89938532 5:90642715-90642715
17 ADGRV1 NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter) SNV Pathogenic 627430 rs377650415 5:90111471-90111471 5:90815654-90815654
18 ADGRV1 NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter) SNV Pathogenic 627431 rs1561843914 5:90144634-90144634 5:90848817-90848817
19 ADGRV1 NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter) SNV Pathogenic 627432 rs1561543496 5:89990458-89990458 5:90694641-90694641
20 ADGRV1 NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs) Deletion Pathogenic 802124 rs1439933768 5:89943424-89943424 5:90647607-90647607
21 ADGRV1 NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs) Duplication Pathogenic 802126 rs765376986 5:90083888-90083889 5:90788071-90788072
22 ADGRV1 NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs) Duplication Pathogenic 802127 rs1581135405 5:90087111-90087112 5:90791294-90791295
23 ADGRV1 NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) Deletion Pathogenic 503620 rs757696771 5:90151631-90151632 5:90855814-90855815
24 ADGRV1 NM_032119.4(ADGRV1):c.9748+2T>C SNV Pathogenic 812115 rs1580864592 5:90016878-90016878 5:90721061-90721061
25 ADGRV1 NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs) Deletion Pathogenic 812116 rs1276890742 5:89988431-89988432 5:90692614-90692615
26 ADGRV1 NM_032119.4(ADGRV1):c.13232-1G>A SNV Pathogenic 812126 rs764583867 5:90078940-90078940 5:90783123-90783123
27 ADGRV1 NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys) SNV Pathogenic 827822 rs1580609185 5:89949539-89949539 5:90653722-90653722
28 ADGRV1 NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) SNV Likely pathogenic 829996 rs1580624630 5:89953734-89953734 5:90657917-90657917
29 ADGRV1 NM_032119.4(ADGRV1):c.2680del (p.Ser894fs) Deletion Likely pathogenic 812127 rs1580567084 5:89939744-89939744 5:90643927-90643927
30 ADGRV1 NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr) SNV Likely pathogenic 802125 rs1580845586 5:90012307-90012307 5:90716490-90716490
31 ADGRV1 NM_032119.4(ADGRV1):c.16197-1G>T SNV Likely pathogenic 627433 rs1561805689 5:90119241-90119241 5:90823424-90823424
32 ADGRV1 NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) SNV Likely pathogenic 627434 rs1561790371 5:90111486-90111486 5:90815669-90815669
33 ADGRV1 NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter) SNV Likely pathogenic 375405 rs369793306 5:90072302-90072302 5:90776485-90776485
34 ADGRV1 NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) SNV Likely pathogenic 6798 rs121909762 5:89986808-89986808 5:90690991-90690991
35 ADGRV1 NM_032119.3:c.16079-1455_c.16196+155del Deletion Likely pathogenic 224744
36 ADGRV1 NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del Deletion Likely pathogenic 623121 5:90694702-90840577
37 ADGRV1 NM_032119.4(ADGRV1):c.12403+1G>T SNV Likely pathogenic 143158 rs527236132 5:90070121-90070121 5:90774304-90774304
38 ADGRV1 NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter) SNV Likely pathogenic 143159 rs527236131 5:90106813-90106813 5:90810996-90810996
39 ADGRV1 NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) SNV Likely pathogenic 143160 rs527236133 5:89988476-89988476 5:90692659-90692659
40 ADGRV1 NM_032119.4(ADGRV1):c.1239-8C>G SNV Likely pathogenic 224743 rs869312178 5:89924371-89924371 5:90628554-90628554
41 ADGRV1 NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs) Deletion Likely pathogenic 974883 5:90149942-90149942 5:90854125-90854125
42 ADGRV1 NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) SNV Conflicting interpretations of pathogenicity 179159 rs200512504 5:89985746-89985746 5:90689929-90689929
43 ADGRV1 NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) SNV Conflicting interpretations of pathogenicity 46348 rs41308846 5:89979871-89979871 5:90684054-90684054
44 ADGRV1 NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) SNV Conflicting interpretations of pathogenicity 158655 rs114137750 5:90016778-90016778 5:90720961-90720961
45 ADGRV1 NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) SNV Conflicting interpretations of pathogenicity 163623 rs371947306 5:90124769-90124769 5:90828952-90828952
46 ADGRV1 NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) SNV Uncertain significance 137500 rs199988872 5:89930940-89930940 5:90635123-90635123
47 ADGRV1 NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) SNV Uncertain significance 46359 rs193030567 5:89988464-89988464 5:90692647-90692647
48 ADGRV1 NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe) SNV Uncertain significance 523055 rs1338945655 5:89988422-89988422 5:90692605-90692605
49 ADGRV1 NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val) SNV Uncertain significance 560461 rs1561464218 5:89949499-89949499 5:90653682-90653682
50 ADGRV1 NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met) SNV Uncertain significance 417908 rs557989446 5:90281179-90281179 5:90985362-90985362

Expression for Usher Syndrome, Type 2b

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Pathways for Usher Syndrome, Type 2b

GO Terms for Usher Syndrome, Type 2b

Sources for Usher Syndrome, Type 2b

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57 OMIM® (Updated 05-Mar-2021)
61 PubMed
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