Details of Disease | DrugMAP

General Information of Disease (ID: DISE54LW)

Disease Name	Congenital stationary night blindness 1D
Synonyms	Csnb, complete, autosomal recessive; night blindness, congenital stationary, type 1D; SLC24A1 congenital stationary night blindness; congenital stationary night blindness type 1D; congenital stationary night blindness 1D autosomal recessive; CSNB1D; congenital stationary night blindness caused by mutation in SLC24A1; night blindness, congenital stationary (complete), 1D, autosomal recessive; congenital stationary night blindness 1D
Definition	Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DIS2BIP8: Congenital nervous system disorder DISE54LW: Congenital stationary night blindness 1D
Disease Identifiers	MONDO ID MONDO_0013450 UMLS CUI C3151193 OMIM ID 613830 MedGen ID 462543

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC24A1	DTJZ7M5	Strong	Autosomal recessive	[1]
SLC24A1	DTJZ7M5	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC24A1	OTY3QMBN	Strong	Autosomal recessive	[1]
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References

1	Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1971-9.
2	A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.Hum Mol Genet. 2015 Oct 15;24(20):5915-29. doi: 10.1093/hmg/ddv319. Epub 2015 Aug 5.