Details of Disease

General Information of Disease (ID: DISA57KI)

• Disease Name: Congenital stationary night blindness 2A
• Synonyms: night blindness, congenital stationary, type 2; night blindness, congenital stationary, type 2A; CSNB2A; night blindness, congenital stationary (incomplete), 2A, X-linked; congenital stationary night blindness 2A X-linked; CSNB, incomplete, X-linked; CACNA1F congenital stationary night blindness; congenital stationary night blindness caused by mutation in CACNA1F; congenital stationary night blindness type 2A
• Definition: Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.
• Disease Hierarchy:
  DISX0CWK: Congenital stationary night blindness
  DISNAU7C: X-linked congenital stationary night blindness
  DISRZHHN: CACNA1F-related retinopathy
  DISA57KI: Congenital stationary night blindness 2A
• Disease Identifiers:
  MONDO ID: MONDO_0010241
  MESH ID: C536122
  UMLS CUI: C1848172
  OMIM ID: 300071
  MedGen ID: 376299

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1F	TTJ0SO4	Strong	X-linked	[1]
CNGA3	TTW0QOV	Strong	Genetic Variation	[2]
OTC	TT5KIO9	Strong	Biomarker	[3]
RHO	TTH0KSX	Strong	Biomarker	[4]
RPGR	TTHBDA9	Strong	Genetic Variation	[5]
CACNA1F	TTJ0SO4	Definitive	Genetic Variation	[6]

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CABP4	OTL0TRR5	Strong	Biomarker	[7]
CACNA1F	OTQTXNGF	Strong	X-linked	[1]
CRB1	OTXYUNG0	Strong	Genetic Variation	[2]
DYNLT3	OT26QKCI	Strong	Genetic Variation	[5]
MAPRE3	OTSCLETV	Strong	Genetic Variation	[5]
MYBPC1	OTRPN93S	Strong	Genetic Variation	[8]
NR2E3	OTO3GBHQ	Strong	Genetic Variation	[2]
NYX	OTAGXLYP	Strong	Biomarker	[6]
PDE6B	OTOJMB1V	Strong	Biomarker	[9]
RP2	OTK050I3	Strong	Genetic Variation	[5]
SEC16B	OT244C1N	Strong	Genetic Variation	[10]
SAG	OTDNS3ZQ	Definitive	Biomarker	[11]

References

• [1] A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum Genet. 2001 Feb;108(2):91-7. doi: 10.1007/s004390100461.
• [2] Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).Ophthalmic Genet. 2002 Jun;23(2):71-97. doi: 10.1076/opge.23.2.71.2214.
• [3] Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7.Genomics. 1992 Feb;12(2):409-11. doi: 10.1016/0888-7543(92)90394-8.
• [4] 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.
• [5] Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.Invest Ophthalmol Vis Sci. 1997 Dec;38(13):2750-5.
• [6] Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness.Graefes Arch Clin Exp Ophthalmol. 2019 Jun;257(6):1207-1215. doi: 10.1007/s00417-019-04319-w. Epub 2019 Apr 13.
• [7] Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function. Nat Neurosci. 2004 Oct;7(10):1079-87. doi: 10.1038/nn1320. Epub 2004 Sep 26.
• [8] Unique disease heritage of the Dutch-German Mennonite population.Am J Med Genet A. 2008 Apr 15;146A(8):1072-87. doi: 10.1002/ajmg.a.32061.
• [9] 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.
• [10] Mutations in the CACNA1F and NYX genes in British CSNBX families. Hum Mutat. 2003 Feb;21(2):169. doi: 10.1002/humu.9106.
• [11] 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.