MCID: OGC001
MIFTS: 23

Oguchi Disease 1

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Oguchi Disease 1

MalaCards integrated aliases for Oguchi Disease 1:

Name: Oguchi Disease 1 57 75
Oguchi Disease-1 57 12 75 13
Csnbo1 57 12 75
Night Blindness, Congenital Stationary, Oguchi Type 1 57 75
Night Blindness, Congenital Stationary, Oguchi Type 1; Csnbo1 57
Congenital Stationary Night Blindness Oguchi Type 1 12
Oguchi Disease 1 ) 40
Oguchi Disease 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients


HPO:

32
oguchi disease 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 258100
Disease Ontology 12 DOID:0110712
MedGen 42 C1306122
MeSH 44 D009755

Summaries for Oguchi Disease 1

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, or Mizuo-Nakamura 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). (258100)

MalaCards based summary : Oguchi Disease 1, also known as oguchi disease-1, is related to oguchi disease 2. An important gene associated with Oguchi Disease 1 is SAG (S-Antigen Visual Arrestin). Affiliated tissues include retina and eye, and related phenotypes are congenital stationary night blindness and hemeralopia

Disease Ontology : 12 A hereditary 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 or compound heterozygous mutation in the SAG gene on chromosome 2q37.

UniProtKB/Swiss-Prot : 75 Night blindness, congenital stationary, Oguchi type 1: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation.

Related Diseases for Oguchi Disease 1

Diseases in the Oguchi Disease 2 family:

Oguchi Disease 1

Diseases related to Oguchi Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 oguchi disease 2 11.0

Symptoms & Phenotypes for Oguchi Disease 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
night blindness, congenital stationary
yellow or gray discoloration of retina that disappears after prolonged dark adaptation


Clinical features from OMIM:

258100

Human phenotypes related to Oguchi Disease 1:

32
# Description HPO Frequency HPO Source Accession
1 congenital stationary night blindness 32 HP:0007642
2 hemeralopia 32 HP:0012047

Drugs & Therapeutics for Oguchi Disease 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Oguchi Disease 1

Genetic Tests for Oguchi Disease 1

Anatomical Context for Oguchi Disease 1

MalaCards organs/tissues related to Oguchi Disease 1:

41
Retina, Eye

Publications for Oguchi Disease 1

Articles related to Oguchi Disease 1:

(show all 18)
# Title Authors Year
1
A novel missense mutation of the GRK1 gene in Oguchi disease. ( 27511724 )
2016
2
The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation. ( 26349155 )
2015
3
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. ( 22959359 )
2012
4
A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease. ( 22665972 )
2012
5
Oguchi disease with unusual findings associated with a heterozygous mutation in the SAG gene. ( 21987685 )
2011
6
Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene. ( 21447990 )
2011
7
Oguchi disease masked by retinitis pigmentosa. ( 21922265 )
2011
8
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. ( 19753316 )
2009
9
Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease. ( 17765441 )
2007
10
A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. ( 17070587 )
2007
11
A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene. ( 16319817 )
2005
12
Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease. ( 15295660 )
2004
13
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. ( 11078833 )
2000
14
Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness) ( 10549660 )
1999
15
1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease. ( 10420197 )
1999
16
Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination. ( 9452120 )
1998
17
Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene. ( 9051837 )
1997
18
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. ( 7670478 )
1995

Variations for Oguchi Disease 1

ClinVar genetic disease variations for Oguchi Disease 1:

6
(show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 SAG NM_000541.4(SAG): c.926delA (p.Asn309Thrfs) deletion Pathogenic rs587776778 GRCh37 Chromosome 2, 234243727: 234243727
2 SAG NM_000541.4(SAG): c.926delA (p.Asn309Thrfs) deletion Pathogenic rs587776778 GRCh38 Chromosome 2, 233335081: 233335081
3 SAG NM_000541.4(SAG): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs201153410 GRCh37 Chromosome 2, 234237188: 234237188
4 SAG NM_000541.4(SAG): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs201153410 GRCh38 Chromosome 2, 233328542: 233328542
5 SAG NM_000541.4(SAG): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs397514681 GRCh37 Chromosome 2, 234243675: 234243675
6 SAG NM_000541.4(SAG): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs397514681 GRCh38 Chromosome 2, 233335029: 233335029
7 SAG NM_000541.4(SAG): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs397514682 GRCh37 Chromosome 2, 234243717: 234243717
8 SAG NM_000541.4(SAG): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs397514682 GRCh38 Chromosome 2, 233335071: 233335071
9 SAG NM_000541.4(SAG): c.523C> T (p.Arg175Ter) single nucleotide variant Pathogenic rs587777209 GRCh37 Chromosome 2, 234237134: 234237134
10 SAG NM_000541.4(SAG): c.523C> T (p.Arg175Ter) single nucleotide variant Pathogenic rs587777209 GRCh38 Chromosome 2, 233328488: 233328488
11 SAG NM_000541.4(SAG): c.301G> A (p.Ala101Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141521563 GRCh37 Chromosome 2, 234229395: 234229395
12 SAG NM_000541.4(SAG): c.301G> A (p.Ala101Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141521563 GRCh38 Chromosome 2, 233320749: 233320749
13 SAG NM_000541.4(SAG): c.375+11C> T single nucleotide variant Benign/Likely benign rs74356516 GRCh37 Chromosome 2, 234229480: 234229480
14 SAG NM_000541.4(SAG): c.375+11C> T single nucleotide variant Benign/Likely benign rs74356516 GRCh38 Chromosome 2, 233320834: 233320834
15 SAG NM_000541.4(SAG): c.468C> T (p.Phe156=) single nucleotide variant Uncertain significance rs375593027 GRCh37 Chromosome 2, 234235799: 234235799
16 SAG NM_000541.4(SAG): c.468C> T (p.Phe156=) single nucleotide variant Uncertain significance rs375593027 GRCh38 Chromosome 2, 233327153: 233327153
17 SAG NM_000541.4(SAG): c.875G> A (p.Arg292Gln) single nucleotide variant Uncertain significance rs554322769 GRCh37 Chromosome 2, 234243676: 234243676
18 SAG NM_000541.4(SAG): c.875G> A (p.Arg292Gln) single nucleotide variant Uncertain significance rs554322769 GRCh38 Chromosome 2, 233335030: 233335030
19 SAG NM_000541.4(SAG): c.1207G> A (p.Val403Ile) single nucleotide variant Benign rs1046974 GRCh37 Chromosome 2, 234255547: 234255547
20 SAG NM_000541.4(SAG): c.1207G> A (p.Val403Ile) single nucleotide variant Benign rs1046974 GRCh38 Chromosome 2, 233346901: 233346901
21 SAG NM_000541.4(SAG): c.-11G> A single nucleotide variant Uncertain significance rs754551985 GRCh38 Chromosome 2, 233309179: 233309179
22 SAG NM_000541.4(SAG): c.-11G> A single nucleotide variant Uncertain significance rs754551985 GRCh37 Chromosome 2, 234217825: 234217825
23 SAG NM_000541.4(SAG): c.226A> G (p.Ile76Val) single nucleotide variant Likely benign rs7565275 GRCh38 Chromosome 2, 233320674: 233320674
24 SAG NM_000541.4(SAG): c.226A> G (p.Ile76Val) single nucleotide variant Likely benign rs7565275 GRCh37 Chromosome 2, 234229320: 234229320
25 SAG NM_000541.4(SAG): c.820C> T (p.Pro274Ser) single nucleotide variant Uncertain significance rs369789189 GRCh37 Chromosome 2, 234243621: 234243621
26 SAG NM_000541.4(SAG): c.820C> T (p.Pro274Ser) single nucleotide variant Uncertain significance rs369789189 GRCh38 Chromosome 2, 233334975: 233334975
27 SAG NM_000541.4(SAG): c.1167T> A (p.Asp389Glu) single nucleotide variant Uncertain significance rs199798289 GRCh37 Chromosome 2, 234255507: 234255507
28 SAG NM_000541.4(SAG): c.1167T> A (p.Asp389Glu) single nucleotide variant Uncertain significance rs199798289 GRCh38 Chromosome 2, 233346861: 233346861
29 SAG NM_000541.4(SAG): c.*7C> T single nucleotide variant Likely benign rs692 GRCh37 Chromosome 2, 234255565: 234255565
30 SAG NM_000541.4(SAG): c.*7C> T single nucleotide variant Likely benign rs692 GRCh38 Chromosome 2, 233346919: 233346919
31 SAG NM_000541.4(SAG): c.*89C> T single nucleotide variant Likely benign rs78338185 GRCh37 Chromosome 2, 234255647: 234255647
32 SAG NM_000541.4(SAG): c.*89C> T single nucleotide variant Likely benign rs78338185 GRCh38 Chromosome 2, 233347001: 233347001
33 SAG NM_000541.4(SAG): c.*98G> A single nucleotide variant Uncertain significance rs184255686 GRCh37 Chromosome 2, 234255656: 234255656
34 SAG NM_000541.4(SAG): c.*98G> A single nucleotide variant Uncertain significance rs184255686 GRCh38 Chromosome 2, 233347010: 233347010
35 SAG NM_000541.4(SAG): c.-331G> T single nucleotide variant Uncertain significance rs752812406 GRCh38 Chromosome 2, 233307720: 233307720
36 SAG NM_000541.4(SAG): c.-331G> T single nucleotide variant Uncertain significance rs752812406 GRCh37 Chromosome 2, 234216366: 234216366
37 SAG NM_000541.4(SAG): c.-278A> G single nucleotide variant Uncertain significance rs886055799 GRCh38 Chromosome 2, 233307773: 233307773
38 SAG NM_000541.4(SAG): c.-278A> G single nucleotide variant Uncertain significance rs886055799 GRCh37 Chromosome 2, 234216419: 234216419
39 SAG NM_000541.4(SAG): c.1208T> C (p.Val403Ala) single nucleotide variant Benign rs1046976 GRCh37 Chromosome 2, 234255548: 234255548
40 SAG NM_000541.4(SAG): c.1208T> C (p.Val403Ala) single nucleotide variant Benign rs1046976 GRCh38 Chromosome 2, 233346902: 233346902
41 SAG NM_000541.4(SAG): c.201C> T (p.Cys67=) single nucleotide variant Likely benign rs72976383 GRCh38 Chromosome 2, 233320649: 233320649
42 SAG NM_000541.4(SAG): c.201C> T (p.Cys67=) single nucleotide variant Likely benign rs72976383 GRCh37 Chromosome 2, 234229295: 234229295
43 SAG NM_000541.4(SAG): c.489C> T (p.Ala163=) single nucleotide variant Likely benign rs2304773 GRCh37 Chromosome 2, 234235820: 234235820
44 SAG NM_000541.4(SAG): c.489C> T (p.Ala163=) single nucleotide variant Likely benign rs2304773 GRCh38 Chromosome 2, 233327174: 233327174
45 SAG NM_000541.4(SAG): c.838A> G (p.Lys280Glu) single nucleotide variant Uncertain significance rs373986650 GRCh37 Chromosome 2, 234243639: 234243639
46 SAG NM_000541.4(SAG): c.838A> G (p.Lys280Glu) single nucleotide variant Uncertain significance rs373986650 GRCh38 Chromosome 2, 233334993: 233334993
47 SAG NM_000541.4(SAG): c.-223C> G single nucleotide variant Uncertain significance rs140569105 GRCh38 Chromosome 2, 233307828: 233307828
48 SAG NM_000541.4(SAG): c.-223C> G single nucleotide variant Uncertain significance rs140569105 GRCh37 Chromosome 2, 234216474: 234216474
49 SAG NM_000541.4(SAG): c.321G> C (p.Leu107=) single nucleotide variant Likely benign rs59676190 GRCh38 Chromosome 2, 233320769: 233320769
50 SAG NM_000541.4(SAG): c.321G> C (p.Leu107=) single nucleotide variant Likely benign rs59676190 GRCh37 Chromosome 2, 234229415: 234229415

Expression for Oguchi Disease 1

Search GEO for disease gene expression data for Oguchi Disease 1.

Pathways for Oguchi Disease 1

GO Terms for Oguchi Disease 1

Sources for Oguchi Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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