Details of Disease | DrugMAP

General Information of Disease (ID: DIS5GHJ9)

Disease Name	Congenital stationary night blindness autosomal dominant 3
Synonyms	night blindness, congenital stationary, Nougaret type; night blindness, congenital stationary, autosomal dominant 3; congenital stationary night blindness autosomal dominant type 3; night blindness, congenital stationary, autosomal dominant type 3; CSNBAD3; Nougaret type congenital stationary night blindness
Definition	A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DIS2BIP8: Congenital nervous system disorder DIS3HIWD: Autosomal dominant disease DIS5GHJ9: Congenital stationary night blindness autosomal dominant 3
Disease Identifiers	MONDO ID MONDO_0012497 MESH ID C566475 UMLS CUI C1864870 OMIM ID 610444 MedGen ID 355313

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	Definitive	Autosomal dominant	[1]
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References

1	A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness. Biomed Res Int. 2018 Apr 23;2018:7694801. doi: 10.1155/2018/7694801. eCollection 2018.