MCID: OGC005
MIFTS: 44

Oguchi Disease

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

Aliases & Classifications for Oguchi Disease

MalaCards integrated aliases for Oguchi Disease:

Name: Oguchi Disease 20 58
Oguchi's Disease 29 6
Congenital Stationary Night Blindness, Oguchi Type 58
Stationary Night Blindness, Oguchi Type 20
Oguchi Syndrome 58
Oguchis Disease 54

Characteristics:

Orphanet epidemiological data:

58
oguchi disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

MESH via Orphanet 45 C537743
ICD10 via Orphanet 33 H53.6
UMLS via Orphanet 71 C1306122
Orphanet 58 ORPHA75382

Summaries for Oguchi Disease

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75382 Definition Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon. Epidemiology Oguchi disease is a very rare condition with approximately 50 cases described in the literature to date. It was originally discovered in Japan where the prevalence is the highest but has been found occasionally in European, American, Pakistani and Indian patients. Clinical description The disease is characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon which is a unique morphological and functional abnormality of the retina that presents with a typical golden-yellow or silver-gray discoloration of the fundus in the presence of light that disappears after dark-adaptation and appears again after the onset of light. Patients have non progressive night blindness since young childhood with normal day vision, but they often claim improvement of light sensitivities when they remain a long time in a dark environment. Eye fundus shows the Mizuo-Nakamura phenomenon as the only fundus feature. A prolonged dark adaptation of 3 hours or more leads to disappearance of the Mizuo-Nakamura phenomenon fundus changes. No evidence of spicules, macular changes or chorioretinal atrophy is observed. Normal visual acuity, normal caliber of retinal blood vessels and usually normal cone response on electroretinogram (ERG) recording suggest retinal dysfunction rather than degeneration. Etiology Oguchi disease is caused by mutations in the SAG gene coding for arrestin located on chromosome 2q37(Oguchi type 1) or by mutations in the GRK1 gene that codes for the rhodopsin kinase located on the chromosome 13q34 (Oguchi type 2). Remarkably, some mutations in the SAG gene are associated with Oguchi disease and retinitis pigmentosa (RP) in the same family. Some mutations in SAG lead to RP. Diagnostic methods The diagnosis is clinical and is based on the presence of night blindness and the observation of the Mizuo-Nakamura phenomenon by funduscopy and electroretinography (ERG). The clinical diagnosis is confirmed by genetic testing. Differential diagnosis The differential diagnosis includes Stargardt disease, RP in female carriers, juvenile retinoschisis, and progressive cone dystrophy (see these terms). All these conditions may have fundus changes but without the classical Mizuo-Nakamura phenomenon. Genetic counseling Oguchi disease is an autosomal recessive condition. Brothers and sisters of an affected case have a 25% risk to be also affected. Management and treatment To date, there is not a specific treatment for Oguchi disease. Prognosis In Oguchi disease the visual prognosis is good in absence of progression of symptoms. Although Oguchi disease is categorized as a stationary condition it can lead to reduced visual acuity or constricted visual fields, especially in older patients.

MalaCards based summary : Oguchi Disease, also known as oguchi's disease, is related to oguchi disease 2 and oguchi disease 1. An important gene associated with Oguchi Disease is GRK1 (G Protein-Coupled Receptor Kinase 1), and among its related pathways/superpathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Affiliated tissues include eye and retina, and related phenotypes are congenital stationary night blindness and electronegative electroretinogram

Wikipedia : 73 Oguchi disease, is an autosomal recessive form of congenital stationary night blindness associated with... more...

Related Diseases for Oguchi Disease

Diseases in the Oguchi Disease family:

Oguchi Disease 1 Oguchi Disease 2

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 oguchi disease 2 32.8 SAG GRK1
2 oguchi disease 1 32.8 SAG GRK1
3 x-linked congenital stationary night blindness 30.0 NYX CACNA1F
4 congenital stationary night blindness 29.6 SAG RHO RDH5 PDE6B NYX GRM6
5 retinoschisis 1, x-linked, juvenile 28.9 RHO NYX GRM6 GRK1 CACNA1F
6 macular degeneration, age-related, 1 28.8 SAG RHO RDH5 PDE6B GRK1
7 retinal degeneration 28.7 SAG RHO RDH5 PDE6B GRK1 GNAT1
8 night blindness 28.2 SAG RHO RDH5 PDE6B NYX GRM6
9 fundus albipunctatus 28.2 SAG RHO RDH5 PDE6B GRK1 GNAT1
10 cone dystrophy 28.2 SAG RHO RDH5 PDE6B GRK1 GNAT1
11 retinitis pigmentosa 27.9 SAG RHO RDH5 PDE6B NYX GRM6
12 retinal disease 27.5 SAG RHO RDH5 PDE6B NYX GRM6
13 yemenite deaf-blind hypopigmentation syndrome 10.6
14 neuroretinitis 10.3
15 retinitis 10.3
16 melanoma-associated retinopathy 10.1 SAG RHO
17 night blindness, congenital stationary, autosomal dominant 3 10.1 GNAT1 CACNA1F
18 pineocytoma 10.1 SAG RHO
19 cancer-associated retinopathy 10.1 SAG RHO
20 retinitis pigmentosa 4 10.0 RHO GNAT1
21 cone-rod dystrophy, x-linked, 3 10.0 NYX CACNA1F
22 autosomal recessive congenital stationary night blindness 10.0 GRM6 GNAT1
23 achromatopsia 3 10.0 NYX CACNA1F
24 myasthenic syndrome, congenital, 3a, slow-channel 10.0 SAG RHO GRK1
25 night blindness, congenital stationary, type 1e 10.0 NYX CACNA1F
26 diabetes insipidus, nephrogenic, autosomal 10.0 SAG RHO
27 newfoundland rod-cone dystrophy 10.0 RHO RDH5
28 enhanced s-cone syndrome 9.9 RHO GRK1 GNAT1
29 night blindness, congenital stationary, autosomal dominant 2 9.9
30 retinal detachment 9.9
31 homocysteinemia 9.9
32 retinitis pigmentosa 47 9.9
33 autosomal recessive disease 9.9
34 keratoconus 9.9
35 scotoma 9.9
36 ring chromosome 2 9.9
37 aland island eye disease 9.9 NYX CACNA1F
38 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.9
39 kearns-sayre syndrome 9.9
40 branchiootic syndrome 1 9.9
41 microvascular complications of diabetes 1 9.9
42 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.9
43 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.9
44 microvascular complications of diabetes 2 9.9
45 microvascular complications of diabetes 5 9.9
46 chronic progressive external ophthalmoplegia 9.9
47 vitreous detachment 9.9
48 uveal disease 9.9 SAG RHO
49 night blindness, congenital stationary, autosomal dominant 1 9.9 RHO GNAT1 CACNA1F
50 prolonged electroretinal response suppression 9.9 RHO RDH5 GRK1

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



Diseases related to Oguchi Disease

Symptoms & Phenotypes for Oguchi Disease

Human phenotypes related to Oguchi Disease:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital stationary night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007642
2 electronegative electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0007984
3 mizuo phenomenon 58 31 hallmark (90%) Very frequent (99-80%) HP:0030824
4 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
5 macular degeneration 58 31 occasional (7.5%) Occasional (29-5%) HP:0000608
6 nystagmus 58 31 very rare (1%) Very rare (<4-1%) HP:0000639
7 diplopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000651
8 visual impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000505
9 strabismus 58 31 very rare (1%) Very rare (<4-1%) HP:0000486
10 rod-cone dystrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000510
11 abnormality of refraction 58 Occasional (29-5%)
12 visual field defect 58 Excluded (0%)
13 dyschromatopsia 58 Excluded (0%)

MGI Mouse Phenotypes related to Oguchi Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 CACNA1F GNAT1 GRK1 GRM6 PDE6B RHO
2 vision/eye MP:0005391 9.28 CACNA1F GNAT1 GRK1 GRM6 NYX PDE6B

Drugs & Therapeutics for Oguchi Disease

Search Clinical Trials , NIH Clinical Center for Oguchi Disease

Genetic Tests for Oguchi Disease

Genetic tests related to Oguchi Disease:

# Genetic test Affiliating Genes
1 Oguchi's Disease 29

Anatomical Context for Oguchi Disease

MalaCards organs/tissues related to Oguchi Disease:

40
Eye, Retina

Publications for Oguchi Disease

Articles related to Oguchi Disease:

(show top 50) (show all 130)
# Title Authors PMID Year
1
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. 61 54 6
19753316 2009
2
Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease. 61 6 54
17765441 2007
3
A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. 54 6 61
17070587 2007
4
A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene. 6 61 54
16319817 2005
5
Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease. 61 54 6
15234147 2004
6
Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination. 6 54 61
9452120 1998
7
Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. 6 61 54
9419375 1998
8
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. 6 54 61
9020843 1997
9
A novel GRK1 mutation in an Italian patient with Oguchi disease. 6 61
28511019 2018
10
A novel missense mutation of the GRK1 gene in Oguchi disease. 61 6
27511724 2016
11
The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation. 6 61
26349155 2015
12
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. 6 61
22959359 2012
13
A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease. 6 61
22665972 2012
14
Arrestin gene mutations in autosomal recessive retinitis pigmentosa. 61 6
9565049 1998
15
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 61 6
7670478 1995
16
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 6
30718709 2019
17
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. 6
28418496 2017
18
[Physiology and pathology of visual information processing]. 54 61
17402561 2007
19
Arrestin can act as a regulator of rhodopsin photochemistry. 54 61
17069872 2006
20
Rapid detection of SAG 926delA mutation using real-time polymerase chain reaction. 61 54
17200654 2006
21
[GRKs and arrestins: the therapeutic pathway?]. 54 61
16687124 2006
22
[Molecular genetic study of congenital stationary night blindness]. 61 54
15584351 2004
23
Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease. 61 54
15295660 2004
24
Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. 61 54
12601058 2003
25
Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness) 54 61
10549660 1999
26
1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease. 61 54
10420197 1999
27
Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase. 54 61
10097103 1999
28
Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. 54 61
9501883 1998
29
Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness. 61 54
9501174 1998
30
New variants and in silico analyses in GRK1 associated Oguchi disease. 61
33252155 2021
31
Oguchi Disease Associated with Keratoconus. 61
33520139 2021
32
Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up. 61
32333190 2020
33
Clinical Findings in Four Siblings with Genetically Proven Oguchi Disease. 61
33553842 2020
34
Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease. 61
32146548 2020
35
Signs of Oguchi Disease and Pigmentary Degeneration from Early in Life. 61
32444022 2020
36
A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report. 61
32953689 2020
37
Electronegative Electroretinograms in the United Arab Emirates. 61
32874040 2020
38
Progression from Classical Oguchi Disease to Retinitis Pigmentosa after 50 Years. 61
31864474 2020
39
Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study. 61
31257036 2019
40
Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family. 61
31696758 2019
41
Oguchi type I caused by a homozygous missense variation in the SAG gene. 61
30267901 2019
42
A Mixture of U.S. Food and Drug Administration-Approved Monoaminergic Drugs Protects the Retina From Light Damage in Diverse Models of Night Blindness. 61
30947334 2019
43
Oguchi Disease: The Chameleon in the Retina. 61
31014762 2019
44
Mizuo-Nakamura phenomenon in an Indian male. 61
30847219 2019
45
ISCEV extended protocol for the dark-adapted red flash ERG. 61
29934801 2018
46
Oguchi's disease with Mizuo-Nakamura phenomenon in a seven-year-old boy. 61
30607313 2018
47
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. 61
28549094 2017
48
Mizuo-Nakamura Phenomena. 61
27842204 2016
49
Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease. 61
25744976 2015
50
A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. 61
24019744 2013

Variations for Oguchi Disease

ClinVar genetic disease variations for Oguchi Disease:

6 (show top 50) (show all 82)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SAG NM_000541.5(SAG):c.874C>T (p.Arg292Ter) SNV Pathogenic 41897 rs397514681 GRCh37: 2:234243675-234243675
GRCh38: 2:233335029-233335029
2 SAG NM_000541.5(SAG):c.916G>T (p.Glu306Ter) SNV Pathogenic 41898 rs397514682 GRCh37: 2:234243717-234243717
GRCh38: 2:233335071-233335071
3 SAG NM_000541.5(SAG):c.523C>T (p.Arg175Ter) SNV Pathogenic 102422 rs587777209 GRCh37: 2:234237134-234237134
GRCh38: 2:233328488-233328488
4 GRK1 GRK1, EX5DEL Deletion Pathogenic 13009 GRCh37:
GRCh38:
5 GRK1 GRK1, 4-BP DEL Deletion Pathogenic 13011 GRCh37:
GRCh38:
6 SAG NM_000541.5(SAG):c.648+1G>C SNV Pathogenic 984410 GRCh37: 2:234237260-234237260
GRCh38: 2:233328614-233328614
7 SAG NM_000541.5(SAG):c.649-1G>C SNV Pathogenic 989451 GRCh37: 2:234238138-234238138
GRCh38: 2:233329492-233329492
8 SAG NM_000541.5(SAG):c.926del (p.Asn309fs) Deletion Pathogenic 12951 rs587776778 GRCh37: 2:234243725-234243725
GRCh38: 2:233335079-233335079
9 SAG NM_000541.5(SAG):c.571C>T (p.Gln191Ter) SNV Pathogenic 801912 rs1574942567 GRCh37: 2:234237182-234237182
GRCh38: 2:233328536-233328536
10 SAG NM_000541.5(SAG):c.577C>T (p.Arg193Ter) SNV Pathogenic 41895 rs201153410 GRCh37: 2:234237188-234237188
GRCh38: 2:233328542-233328542
11 SAG NM_000541.5(SAG):c.577C>T (p.Arg193Ter) SNV Pathogenic 41895 rs201153410 GRCh37: 2:234237188-234237188
GRCh38: 2:233328542-233328542
12 SAG NM_000541.5(SAG):c.182-2A>G SNV Pathogenic 851115 GRCh37: 2:234229274-234229274
GRCh38: 2:233320628-233320628
13 GRK1 NM_002929.3(GRK1):c.1139T>A (p.Val380Asp) SNV Pathogenic/Likely pathogenic 13010 rs777094000 GRCh37: 13:114434261-114434261
GRCh38: 13:113731288-113731288
14 GRK1 NM_002929.3(GRK1):c.1172C>A (p.Pro391His) SNV Pathogenic/Likely pathogenic 13012 rs570621429 GRCh37: 13:114434294-114434294
GRCh38: 13:113731321-113731321
15 SAG NM_000541.5(SAG):c.398C>T (p.Ser133Leu) SNV Likely pathogenic 559444 rs1324934886 GRCh37: 2:234231614-234231614
GRCh38: 2:233322968-233322968
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.142_145del (p.Glu48fs) Deletion Likely pathogenic 870427 GRCh37: 13:114321841-114321844
GRCh38: 13:113667526-113667529
18 GRK1 NM_002929.3(GRK1):c.470T>C (p.Leu157Pro) SNV Likely pathogenic 870428 GRCh37: 13:114322171-114322171
GRCh38: 13:113667856-113667856
19 GRK1 NM_002929.3(GRK1):c.595G>C (p.Gly199Arg) SNV Likely pathogenic 870429 GRCh37: 13:114322296-114322296
GRCh38: 13:113667981-113667981
20 GRK1 NM_002929.3(GRK1):c.614C>A (p.Ser205Ter) SNV Likely pathogenic 870430 GRCh37: 13:114322315-114322315
GRCh38: 13:113668000-113668000
21 GRK1 NM_002929.3(GRK1):c.827+625_883del Deletion Likely pathogenic 870431 GRCh37: 13:114324754-114325869
GRCh38: 13:113670439-113671554
22 GRK1 NM_002929.3(GRK1):c.923T>C (p.Leu308Pro) SNV Likely pathogenic 870432 GRCh37: 13:114325909-114325909
GRCh38: 13:113671594-113671594
23 GRK1 NM_002929.3(GRK1):c.971del (p.Leu324fs) Deletion Likely pathogenic 870433 GRCh37: 13:114325957-114325957
GRCh38: 13:113671642-113671642
24 GRK1 NM_002929.3(GRK1):c.1084G>A (p.Glu362Lys) SNV Likely pathogenic 870434 GRCh37: 13:114434206-114434206
GRCh38: 13:113731233-113731233
25 GRK1 NM_002929.3(GRK1):c.1129G>C (p.Ala377Pro) SNV Likely pathogenic 870435 GRCh37: 13:114434251-114434251
GRCh38: 13:113731278-113731278
26 GRK1 NM_002929.3(GRK1):c.1138G>T (p.Val380Phe) SNV Likely pathogenic 870436 GRCh37: 13:114434260-114434260
GRCh38: 13:113731287-113731287
27 GRK1 NM_002929.3(GRK1):c.1177C>T (p.Arg393Ter) SNV Likely pathogenic 870437 GRCh37: 13:114434299-114434299
GRCh38: 13:113731326-113731326
28 GRK1 NM_002929.3(GRK1):c.1411_1412del (p.Pro471fs) Deletion Likely pathogenic 870438 GRCh37: 13:114438052-114438053
GRCh38: 13:113735079-113735080
29 GRK1 NM_002929.3(GRK1):c.1549_1559del (p.Pro517fs) Deletion Likely pathogenic 870439 GRCh37: 13:114438193-114438203
GRCh38: 13:113735220-113735230
30 GRK1 NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) Deletion Likely pathogenic 870440 GRCh37: 13:114438251-114438254
GRCh38: 13:113735278-113735281
31 GRK1 NM_002929.3(GRK1):c.55C>T (p.Arg19Ter) SNV Likely pathogenic 870441 GRCh37: 13:114321756-114321756
GRCh38: 13:113667441-113667441
32 GRK1 NM_002929.3(GRK1):c.1312C>T (p.Arg438Cys) SNV Likely pathogenic 870442 GRCh37: 13:114435974-114435974
GRCh38: 13:113733001-113733001
33 GRK1 NM_002929.3(GRK1):c.92G>A (p.Arg31Gln) SNV Uncertain significance 638310 rs1243049516 GRCh37: 13:114321793-114321793
GRCh38: 13:113667478-113667478
34 SAG NM_000541.5(SAG):c.468C>T (p.Phe156=) SNV Uncertain significance 167636 rs375593027 GRCh37: 2:234235799-234235799
GRCh38: 2:233327153-233327153
35 SAG NM_000541.5(SAG):c.875G>A (p.Arg292Gln) SNV Uncertain significance 193815 rs554322769 GRCh37: 2:234243676-234243676
GRCh38: 2:233335030-233335030
36 SAG NM_000541.5(SAG):c.-11G>A SNV Uncertain significance 335065 rs754551985 GRCh37: 2:234217825-234217825
GRCh38: 2:233309179-233309179
37 SAG NM_000541.5(SAG):c.*98G>A SNV Uncertain significance 335078 rs184255686 GRCh37: 2:234255656-234255656
GRCh38: 2:233347010-233347010
38 SAG NM_000541.5(SAG):c.838A>G (p.Lys280Glu) SNV Uncertain significance 335071 rs373986650 GRCh37: 2:234243639-234243639
GRCh38: 2:233334993-233334993
39 SAG NM_000541.5(SAG):c.777C>T (p.Tyr259=) SNV Uncertain significance 898348 GRCh37: 2:234240329-234240329
GRCh38: 2:233331683-233331683
40 SAG NM_000541.5(SAG):c.*20C>T SNV Uncertain significance 898428 GRCh37: 2:234255578-234255578
GRCh38: 2:233346932-233346932
41 SAG NM_000541.5(SAG):c.453T>G (p.Phe151Leu) SNV Uncertain significance 897182 GRCh37: 2:234235784-234235784
GRCh38: 2:233327138-233327138
42 SAG NM_000541.5(SAG):c.473C>A (p.Thr158Lys) SNV Uncertain significance 855885 GRCh37: 2:234235804-234235804
GRCh38: 2:233327158-233327158
43 SAG NM_000541.5(SAG):c.154G>C (p.Asp52His) SNV Uncertain significance 837117 GRCh37: 2:234227414-234227414
GRCh38: 2:233318768-233318768
44 SAG NM_000541.5(SAG):c.525A>G (p.Arg175=) SNV Uncertain significance 718731 rs199839554 GRCh37: 2:234237136-234237136
GRCh38: 2:233328490-233328490
45 SAG NM_000541.5(SAG):c.298G>A (p.Ala100Thr) SNV Uncertain significance 895288 GRCh37: 2:234229392-234229392
GRCh38: 2:233320746-233320746
46 SAG NM_000541.5(SAG):c.820C>T (p.Pro274Ser) SNV Uncertain significance 335070 rs369789189 GRCh37: 2:234243621-234243621
GRCh38: 2:233334975-233334975
47 SAG NM_000541.5(SAG):c.866C>T (p.Ala289Val) SNV Uncertain significance 895370 GRCh37: 2:234243667-234243667
GRCh38: 2:233335021-233335021
48 SAG NM_000541.5(SAG):c.1167T>A (p.Asp389Glu) SNV Uncertain significance 335073 rs199798289 GRCh37: 2:234255507-234255507
GRCh38: 2:233346861-233346861
49 SAG NM_000541.4(SAG):c.-331G>T SNV Uncertain significance 335062 rs752812406 GRCh37: 2:234216366-234216366
GRCh38: 2:233307720-233307720
50 SAG NM_000541.4(SAG):c.-278A>G SNV Uncertain significance 335063 rs886055799 GRCh37: 2:234216419-234216419
GRCh38: 2:233307773-233307773

Expression for Oguchi Disease

Search GEO for disease gene expression data for Oguchi Disease.

Pathways for Oguchi Disease

GO Terms for Oguchi Disease

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.72 SAG RHO GRM6 GRK1 GNAT1
2 photoreceptor inner segment GO:0001917 9.43 SAG RHO GNAT1
3 photoreceptor outer segment membrane GO:0042622 9.33 RHO PDE6B GNAT1
4 photoreceptor disc membrane GO:0097381 9.26 RHO PDE6B GRK1 GNAT1
5 photoreceptor outer segment GO:0001750 9.1 SAG RHO PDE6B GRK1 GNAT1 CACNA1F

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.95 SAG RHO PDE6B GRM6 GRK1 GNAT1
2 response to stimulus GO:0050896 9.86 RHO RDH5 PDE6B NYX GRM6 GRK1
3 retina development in camera-type eye GO:0060041 9.67 RHO PDE6B GRM6 GNAT1
4 detection of light stimulus involved in visual perception GO:0050908 9.58 GRM6 GNAT1 CACNA1F
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.55 SAG RHO PDE6B GRK1 GNAT1
6 retinoid metabolic process GO:0001523 9.52 RHO RDH5
7 phototransduction GO:0007602 9.51 RHO GNAT1
8 phototransduction, visible light GO:0007603 9.5 RHO PDE6B GNAT1
9 response to light stimulus GO:0009416 9.49 RHO GNAT1
10 sensory perception of light stimulus GO:0050953 9.46 RHO GRM6
11 detection of light stimulus GO:0009583 9.43 RHO PDE6B
12 rhodopsin mediated signaling pathway GO:0016056 9.35 SAG RHO PDE6B GRK1 GNAT1
13 visual perception GO:0007601 9.23 RHO RDH5 PDE6B NYX GRM6 GRK1

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 8.62 SAG GNAT1

Sources for Oguchi Disease

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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