Details of Disease | DrugMAP

General Information of Disease (ID: DIS3QMBO)

Disease Name	Oguchi disease-1
Synonyms	Oguchi disease 1; night blindness, congenital stationary, Oguchi type 1; CSNBO1; SAG Oguchi disease; congenital stationary night blindness Oguchi type 1; Oguchi disease caused by mutation in SAG; Oguchi disease type 1
Definition	Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DISLYKY5: Oguchi disease DIS3QMBO: Oguchi disease-1
Disease Identifiers	MONDO ID MONDO_0009775 MESH ID C537743 UMLS CUI C4551824 OMIM ID 258100 MedGen ID 1645330

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
SAG	OTDNS3ZQ	Definitive	Autosomal recessive	[1]
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References

1	A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet. 1995 Jul;10(3):360-2. doi: 10.1038/ng0795-360.