Details of Disease | DrugMAP

General Information of Disease (ID: DISLSR7P)

Disease Name	Congenital stationary night blindness 1F
Synonyms	night blindness, congenital stationary, type 1F; LRIT3 congenital stationary night blindness; congenital stationary night blindness type 1F; congenital stationary night blindness caused by mutation in LRIT3; congenital stationary night blindness 1F autosomal recessive; night blindness, congenital stationary (complete), 1F, autosomal recessive; CSNB1F
Definition	Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DISLSR7P: Congenital stationary night blindness 1F
Disease Identifiers	MONDO ID MONDO_0014026 UMLS CUI C3554399 OMIM ID 615058 MedGen ID 767313

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
LRIT3	OTKFE4HP	Strong	Autosomal recessive	[1]
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References

1	Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2013 Jan 10;92(1):67-75. doi: 10.1016/j.ajhg.2012.10.023. Epub 2012 Dec 13.