Details of Disease | DrugMAP

General Information of Disease (ID: DISAX5Q0)

Disease Name	Congenital stationary night blindness 1E
Synonyms	night blindness, congenital stationary, type 1E; Csnb, complete, autosomal recessive; congenital stationary night blindness type 1E; night blindness, congenital stationary (complete), 1E, autosomal recessive; CSNB1E; congenital stationary night blindness 1E autosomal recessive; GPR179 congenital stationary night blindness; congenital stationary night blindness caused by mutation in GPR179; congenital stationary night blindness 1E
Definition	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DISD2LXQ: GPR179-related retinopathy DISAX5Q0: Congenital stationary night blindness 1E
Disease Identifiers	MONDO ID MONDO_0013807 UMLS CUI C3281215 OMIM ID 614565 MedGen ID 482845

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
GPR179	OTJN40Z7	Strong	Autosomal recessive	[1]
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References

1	Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007.