Details of Disease | DrugMAP

General Information of Disease (ID: DIS1N8MZ)

Disease Name	Oguchi disease-2
Synonyms	Oguchi disease 2; night blindness, congenital stationary, Oguchi type 2; Oguchi disease caused by mutation in GRK1; CSNBO2; congenital stationary night blindness Oguchi type 2; GRK1 Oguchi disease; Oguchi disease type 2
Definition	Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DISLYKY5: Oguchi disease DIS1N8MZ: Oguchi disease-2
Disease Identifiers	MONDO ID MONDO_0013259 UMLS CUI C3150678 OMIM ID 613411 MedGen ID 462028

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRK1	OT7MPSG7	Definitive	Autosomal recessive	[1]
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References

1	A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. Ophthalmology. 2007 Jan;114(1):134-41. doi: 10.1016/j.ophtha.2006.05.069. Epub 2006 Oct 27.