CSNBO2
MCID: OGC002
MIFTS: 17

Oguchi Disease 2 (CSNBO2)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Oguchi Disease 2

MalaCards integrated aliases for Oguchi Disease 2:

Name: Oguchi Disease 2 58 76 30 6 74
Oguchi Disease-2 58 12 76 13
Csnbo2 58 12 76
Night Blindness, Congenital Stationary, Oguchi Type 2 58 76
Night Blindness, Congenital Stationary, Oguchi Type 2; Csnbo2 58
Congenital Stationary Night Blindness Oguchi Type 2 12
Oguchi Disease 2 ) 41

Characteristics:

HPO:

33
oguchi disease 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110713
OMIM 58 613411
MeSH 45 D009755
MedGen 43 C3150678
SNOMED-CT via HPO 70 193687000 232061009 258211005
UMLS 74 C3150678

Summaries for Oguchi Disease 2

OMIM : 58 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)

MalaCards based summary : Oguchi Disease 2, is also known as oguchi disease-2. An important gene associated with Oguchi Disease 2 is GRK1 (G Protein-Coupled Receptor Kinase 1). Affiliated tissues include eye, and related phenotype is congenital stationary night blindness.

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 : 76 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

Symptoms & Phenotypes for Oguchi Disease 2

Human phenotypes related to Oguchi Disease 2:

33
# Description HPO Frequency HPO Source Accession
1 congenital stationary night blindness 33 HP:0007642

Clinical features from OMIM:

613411

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 30 GRK1

Anatomical Context for Oguchi Disease 2

MalaCards organs/tissues related to Oguchi Disease 2:

42
Eye

Publications for Oguchi Disease 2

Variations for Oguchi Disease 2

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

76
# Symbol AA change Variation ID SNP ID
1 GRK1 p.Val380Asp VAR_006215 rs777094000
2 GRK1 p.Pro391His VAR_037904 rs570621429

ClinVar genetic disease variations for Oguchi Disease 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GRK1 GRK1, EX5DEL deletion Pathogenic
2 GRK1 NM_002929.2(GRK1): c.1139T> A (p.Val380Asp) single nucleotide variant Pathogenic rs777094000 GRCh38 Chromosome 13, 113731288: 113731288
3 GRK1 NM_002929.2(GRK1): c.1139T> A (p.Val380Asp) single nucleotide variant Pathogenic rs777094000 GRCh37 Chromosome 13, 114434261: 114434261
4 GRK1 GRK1, 4-BP DEL deletion Pathogenic
5 GRK1 NM_002929.2(GRK1): c.1172C> A (p.Pro391His) single nucleotide variant Pathogenic rs570621429 GRCh37 Chromosome 13, 114434294: 114434294
6 GRK1 NM_002929.2(GRK1): c.1172C> A (p.Pro391His) single nucleotide variant Pathogenic rs570621429 GRCh38 Chromosome 13, 113731321: 113731321
7 GRK1 NM_002929.2(GRK1): c.162C> T (p.Leu54=) single nucleotide variant Likely benign rs73579342 GRCh37 Chromosome 13, 114321863: 114321863
8 GRK1 NM_002929.2(GRK1): c.162C> T (p.Leu54=) single nucleotide variant Likely benign rs73579342 GRCh38 Chromosome 13, 113667548: 113667548

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

Sources for Oguchi Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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