CSNBO2
MCID: OGC002
MIFTS: 36

Oguchi Disease 2 (CSNBO2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Oguchi Disease 2

MalaCards integrated aliases for Oguchi Disease 2:

Name: Oguchi Disease 2 57 72 29 6 39 70
Oguchi Disease-2 57 12 72 13 15
Csnbo2 57 12 72
Night Blindness, Congenital Stationary, Oguchi Type 2 57 72
Night Blindness, Congenital Stationary, Oguchi Type 2; Csnbo2 57
Congenital Stationary Night Blindness Oguchi Type 2 12

Characteristics:

HPO:

31
oguchi disease 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110713
OMIM® 57 613411
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755
MedGen 41 C3150678
SNOMED-CT via HPO 68 193687000 232061009 258211005
UMLS 70 C3150678

Summaries for Oguchi Disease 2

OMIM® : 57 Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by Fuchs et al., 1995). For a general description and a discussion of genetic heterogeneity of Oguchi disease, see CSNBO1 (258100). (613411) (Updated 20-May-2021)

MalaCards based summary : Oguchi Disease 2, also known as oguchi disease-2, is related to oguchi disease and retinal vasculitis. An important gene associated with Oguchi Disease 2 is GRK1 (G Protein-Coupled Receptor Kinase 1), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. Affiliated tissues include eye, and related phenotypes are congenital stationary night blindness and mizuo phenomenon

Disease Ontology : 12 A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has material basis in homozygous mutation in the GRK1 gene on chromosome 13q34.

UniProtKB/Swiss-Prot : 72 Night blindness, congenital stationary, Oguchi type 2: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is associated with fundus discoloration and abnormally slow dark adaptation.

Related Diseases for Oguchi Disease 2

Diseases in the Oguchi Disease family:

Oguchi Disease 1 Oguchi Disease 2

Diseases related to Oguchi Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 oguchi disease 10.3 SAG GRK1
2 retinal vasculitis 10.1 SAG ARR3
3 night blindness, congenital stationary, type 2a 10.1 GRK1 ARR3
4 bardet-biedl syndrome 7 10.0 RGS9BP CABP4
5 bardet-biedl syndrome 4 10.0 RGS9BP CABP4
6 nephronophthisis 4 10.0 RGS9BP CABP4
7 prolonged electroretinal response suppression 10.0 RGS9BP GRK7 GRK1
8 myasthenic syndrome, congenital, 3a, slow-channel 9.9 SAG GRK7 GRK1 ARR3
9 night blindness 9.8 SAG GRK7 GRK1 CABP4
10 cone-rod dystrophy, x-linked, 3 9.8 CACNA2D4 CABP4
11 retinoschisis 1, x-linked, juvenile 9.8 GRK1 CABP4
12 fundus albipunctatus 9.8 SAG RGS9BP GRK1 CABP4
13 retinitis pigmentosa 1 9.7 PDE6G CNGA1
14 leber congenital amaurosis 1 9.7 GRK7 GRK1 CNGA1 ARR3
15 usher syndrome 9.7 GRK7 GRK1 CNGA1 ARR3
16 retinal degeneration 9.7 SAG PDE6G GRK1 ARR3
17 retinal disease 9.7 SAG CNGA1 CABP4
18 cone-rod dystrophy 16 9.7 RAB28 CACNA2D4
19 eye degenerative disease 9.6 SAG GRK7 GRK1 CNGA1 ARR3
20 enhanced s-cone syndrome 9.6 RGS9BP GRK7 GRK1 CNGA1 ARR3
21 cone dystrophy 9.5 SAG GRK1 CACNA2D4 CABP4
22 cone-rod dystrophy 6 9.4 PDE6G CACNA2D4 CABP4 ARR3
23 abnormal threshold of rods 9.3 SAG RGS9BP GRK1 CACNA2D4 CABP4
24 oguchi disease 1 8.9 SAG RGS9BP RAB28 PDE6G GRK7 GRK1
25 achromatopsia 8.8 RGS9BP RAB28 GRK1 CNGA1 CACNA2D4 CABP4
26 leber plus disease 8.6 SAG RGS9BP RAB28 PDE6G GRK7 GRK1
27 congenital stationary night blindness 8.4 SAG RGS9BP PDE6G GRK7 GRK1 CNGA1
28 retinitis pigmentosa 39 8.4 RGS9BP RAB8B RAB28 PDE6G GRK7 CNGA1
29 cone-rod dystrophy 2 8.4 SAG RGS9BP RAB28 PDE6G GRK1 CNGA1
30 retinitis pigmentosa 8.2 SAG RGS9BP RAB28 PDE6G GRK7 GRK1
31 fundus dystrophy 8.2 SAG RGS9BP RAB28 PDE6G GRK7 GRK1

Graphical network of the top 20 diseases related to Oguchi Disease 2:



Diseases related to Oguchi Disease 2

Symptoms & Phenotypes for Oguchi Disease 2

Human phenotypes related to Oguchi Disease 2:

31
# Description HPO Frequency HPO Source Accession
1 congenital stationary night blindness 31 HP:0007642
2 mizuo phenomenon 31 HP:0030824

Clinical features from OMIM®:

613411 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Oguchi Disease 2 according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.47 CNGA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.47 CNGA1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.47 SAG
4 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.47 CNGA1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.47 CACNA2D4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.47 CACNA2D4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.47 CACNA2D4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.47 CACNA2D4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.47 SAG
10 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.47 CNGA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.47 SAG
12 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.47 CACNA2D4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.47 SAG
14 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.47 SAG

MGI Mouse Phenotypes related to Oguchi Disease 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 ARR3 CABP4 CACNA2D4 GRK1 PDE6G RAB28

Drugs & Therapeutics for Oguchi Disease 2

Search Clinical Trials , NIH Clinical Center for Oguchi Disease 2

Genetic Tests for Oguchi Disease 2

Genetic tests related to Oguchi Disease 2:

# Genetic test Affiliating Genes
1 Oguchi Disease 2 29 GRK1

Anatomical Context for Oguchi Disease 2

MalaCards organs/tissues related to Oguchi Disease 2:

40
Eye

Publications for Oguchi Disease 2

Articles related to Oguchi Disease 2:

(show all 14)
# Title Authors PMID Year
1
A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. 57 6
17070587 2007
2
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. 6 57
9020843 1997
3
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 6
30718709 2019
4
A novel GRK1 mutation in an Italian patient with Oguchi disease. 6
28511019 2018
5
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. 6
28418496 2017
6
A novel missense mutation of the GRK1 gene in Oguchi disease. 6
27511724 2016
7
The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation. 6
26349155 2015
8
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. 6
22959359 2012
9
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. 6
19753316 2009
10
Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease. 6
17765441 2007
11
A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene. 6
16319817 2005
12
Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. 6
9419375 1998
13
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 57
7670478 1995
14
OGUCHI'S DISEASE. 57
14281981 1965

Variations for Oguchi Disease 2

ClinVar genetic disease variations for Oguchi Disease 2:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRK1 GRK1, EX5DEL Deletion Pathogenic 13009 GRCh37:
GRCh38:
2 GRK1 GRK1, 4-BP DEL Deletion Pathogenic 13011 GRCh37:
GRCh38:
3 SAG NM_000541.5(SAG):c.648+1G>C SNV Pathogenic 984410 GRCh37: 2:234237260-234237260
GRCh38: 2:233328614-233328614
4 SAG NM_000541.5(SAG):c.577C>T (p.Arg193Ter) SNV Pathogenic 41895 rs201153410 GRCh37: 2:234237188-234237188
GRCh38: 2:233328542-233328542
5 GRK1 NM_002929.3(GRK1):c.1139T>A (p.Val380Asp) SNV Pathogenic/Likely pathogenic 13010 rs777094000 GRCh37: 13:114434261-114434261
GRCh38: 13:113731288-113731288
6 GRK1 NM_002929.3(GRK1):c.1172C>A (p.Pro391His) SNV Pathogenic/Likely pathogenic 13012 rs570621429 GRCh37: 13:114434294-114434294
GRCh38: 13:113731321-113731321
7 GRK1 NM_002929.3(GRK1):c.1129G>C (p.Ala377Pro) SNV Likely pathogenic 870435 GRCh37: 13:114434251-114434251
GRCh38: 13:113731278-113731278
8 GRK1 NM_002929.3(GRK1):c.1084G>A (p.Glu362Lys) SNV Likely pathogenic 870434 GRCh37: 13:114434206-114434206
GRCh38: 13:113731233-113731233
9 GRK1 NM_002929.3(GRK1):c.971del (p.Leu324fs) Deletion Likely pathogenic 870433 GRCh37: 13:114325957-114325957
GRCh38: 13:113671642-113671642
10 GRK1 NM_002929.3(GRK1):c.923T>C (p.Leu308Pro) SNV Likely pathogenic 870432 GRCh37: 13:114325909-114325909
GRCh38: 13:113671594-113671594
11 GRK1 NM_002929.3(GRK1):c.827+625_883del Deletion Likely pathogenic 870431 GRCh37: 13:114324754-114325869
GRCh38: 13:113670439-113671554
12 GRK1 NM_002929.3(GRK1):c.614C>A (p.Ser205Ter) SNV Likely pathogenic 870430 GRCh37: 13:114322315-114322315
GRCh38: 13:113668000-113668000
13 GRK1 NM_002929.3(GRK1):c.595G>C (p.Gly199Arg) SNV Likely pathogenic 870429 GRCh37: 13:114322296-114322296
GRCh38: 13:113667981-113667981
14 GRK1 NM_002929.3(GRK1):c.470T>C (p.Leu157Pro) SNV Likely pathogenic 870428 GRCh37: 13:114322171-114322171
GRCh38: 13:113667856-113667856
15 GRK1 NM_002929.3(GRK1):c.142_145del (p.Glu48fs) Deletion Likely pathogenic 870427 GRCh37: 13:114321841-114321844
GRCh38: 13:113667526-113667529
16 GRK1 NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter) SNV Likely pathogenic 636033 rs1594580431 GRCh37: 13:114436046-114436046
GRCh38: 13:113733073-113733073
17 GRK1 NM_002929.3(GRK1):c.1138G>T (p.Val380Phe) SNV Likely pathogenic 870436 GRCh37: 13:114434260-114434260
GRCh38: 13:113731287-113731287
18 GRK1 NM_002929.3(GRK1):c.1177C>T (p.Arg393Ter) SNV Likely pathogenic 870437 GRCh37: 13:114434299-114434299
GRCh38: 13:113731326-113731326
19 GRK1 NM_002929.3(GRK1):c.1411_1412del (p.Pro471fs) Deletion Likely pathogenic 870438 GRCh37: 13:114438052-114438053
GRCh38: 13:113735079-113735080
20 GRK1 NM_002929.3(GRK1):c.1549_1559del (p.Pro517fs) Deletion Likely pathogenic 870439 GRCh37: 13:114438193-114438203
GRCh38: 13:113735220-113735230
21 GRK1 NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) Deletion Likely pathogenic 870440 GRCh37: 13:114438251-114438254
GRCh38: 13:113735278-113735281
22 GRK1 NM_002929.3(GRK1):c.55C>T (p.Arg19Ter) SNV Likely pathogenic 870441 GRCh37: 13:114321756-114321756
GRCh38: 13:113667441-113667441
23 GRK1 NM_002929.3(GRK1):c.1312C>T (p.Arg438Cys) SNV Likely pathogenic 870442 GRCh37: 13:114435974-114435974
GRCh38: 13:113733001-113733001
24 GRK1 NM_002929.3(GRK1):c.162C>T (p.Leu54=) SNV Likely benign 522307 rs73579342 GRCh37: 13:114321863-114321863
GRCh38: 13:113667548-113667548

UniProtKB/Swiss-Prot genetic disease variations for Oguchi Disease 2:

72
# Symbol AA change Variation ID SNP ID
1 GRK1 p.Val380Asp VAR_006215 rs777094000
2 GRK1 p.Pro391His VAR_037904 rs570621429

Expression for Oguchi Disease 2

Search GEO for disease gene expression data for Oguchi Disease 2.

Pathways for Oguchi Disease 2

GO Terms for Oguchi Disease 2

Cellular components related to Oguchi Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.65 SAG RAB28 GRK1 CABP4 ARR3
2 photoreceptor inner segment GO:0001917 9.32 SAG ARR3
3 photoreceptor outer segment membrane GO:0042622 9.16 PDE6G CNGA1
4 photoreceptor disc membrane GO:0097381 9.13 PDE6G GRK7 GRK1
5 photoreceptor outer segment GO:0001750 9.02 SAG RGS9BP GRK1 CNGA1 ARR3

Biological processes related to Oguchi Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.73 RGS9BP PDE6G GRK7 GRK1 CNGA1 ARR3
2 visual perception GO:0007601 9.5 RGS9BP PDE6G GRK7 GRK1 CNGA1 CABP4
3 rhodopsin mediated signaling pathway GO:0016056 9.46 SAG PDE6G GRK1 CNGA1
4 detection of light stimulus involved in visual perception GO:0050908 9.37 RGS9BP CACNA2D4
5 G protein-coupled receptor internalization GO:0002031 9.32 SAG ARR3
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.02 SAG PDE6G GRK7 GRK1 CNGA1

Molecular functions related to Oguchi Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 9.37 SAG ARR3
2 phosphoprotein binding GO:0051219 9.32 SAG ARR3
3 cGMP binding GO:0030553 9.26 PDE6G CNGA1
4 G protein-coupled receptor kinase activity GO:0004703 9.16 GRK7 GRK1
5 opsin binding GO:0002046 8.96 SAG ARR3
6 rhodopsin kinase activity GO:0050254 8.62 GRK7 GRK1

Sources for Oguchi Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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