Details of Disease | DrugMAP

General Information of Disease (ID: DISR8TAE)

Disease Name	Congenital stationary night blindness 1G
Synonyms	night blindness, congenital stationary, type 1G; congenital stationary night blindness type 1G; CSNB1G
Definition	A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DIS2BIP8: Congenital nervous system disorder DISCPWH9: Autosomal recessive disease DISR8TAE: Congenital stationary night blindness 1G
Disease Identifiers	MONDO ID MONDO_0014614 UMLS CUI C4225345 OMIM ID 616389 MedGen ID 906532

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
GNAT1	OTK2SNJA	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest Ophthalmol Vis Sci. 2012 Mar 13;53(3):1353-61. doi: 10.1167/iovs.11-8026. Print 2012 Mar.