Details of Disease | DrugMAP

General Information of Disease (ID: DISCQ9B9)

Disease Name	Congenital stationary night blindness 1A
Synonyms	nyctalopia; CSNB, complete, X-linked; night blindness, congenital stationary, with myopia; NBMI; complete CSNB X-linked; NYX-related congenital stationary night blindness; CSNB1A; night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive; congenital stationary night blindness with myopia; congenital stationary night blindness type 1A; NYX congenital stationary night blindness; myopia-night blindness; hemeralopia-myopia; night blindness, congenital stationary, type 1A; congenital stationary night blindness 1A; congenital stationary night blindness 1A X-linked; congenital stationary night blindness caused by mutation in NYX
Definition	A congenital stationary night blindness caused by variants in the X-linked NYX gene.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DISNAU7C: X-linked congenital stationary night blindness DIS8E4V9: NYX-related retinopathy DISCQ9B9: Congenital stationary night blindness 1A
Disease Identifiers	MONDO ID MONDO_0010690 MESH ID C536122 UMLS CUI C3495587 OMIM ID 310500 MedGen ID 501208

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RHO	TTH0KSX	Strong	Biomarker	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE6B	OTOJMB1V	Strong	Biomarker	[2]
NYX	OTAGXLYP	Definitive	X-linked	[3]
SAG	OTDNS3ZQ	Definitive	Biomarker	[4]
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References

1	Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993 Jul;4(3):280-3. doi: 10.1038/ng0793-280.
2	Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994 May;7(1):64-8. doi: 10.1038/ng0594-64.
3	CSNB1 in Chinese families associated with novel mutations in NYX. J Hum Genet. 2006;51(7):634-40. doi: 10.1007/s10038-006-0406-5. Epub 2006 May 3.
4	A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet. 1995 Jul;10(3):360-2. doi: 10.1038/ng0795-360.