Details of Disease

General Information of Disease (ID: DISX0CWK)

• Disease Name: Congenital stationary night blindness
• Synonyms: night blindness, congenital stationary; congenital essential nyctalopia
• Disease Hierarchy:
  DISU9N84: Hereditary night blindness
  DISX0CWK: Congenital stationary night blindness
• Disease Identifiers:
  MONDO ID: MONDO_0016293
  MESH ID: C536122
  UMLS CUI: C0339535
  MedGen ID: 83289
  HPO ID: HP:0007642
  Orphanet ID: 215
  SNOMED CT ID: 232061009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 12 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
USH2A	TTVCLLA	Limited	CausalMutation	[1]
CACNA1F	TTJ0SO4	Supportive	Autosomal dominant	[2]
GRM6	TTWRP2F	Supportive	Autosomal dominant	[3]
RHO	TTH0KSX	Supportive	Autosomal dominant	[4]
TRPM1	TTTDAI9	Supportive	Autosomal dominant	[5]
ABCA4	TTLB52K	moderate	CausalMutation	[6]
CACNA1F	TTJ0SO4	Strong	Biomarker	[7]
GPR34	TTVXSTQ	Strong	Biomarker	[8]
GRM6	TTWRP2F	Strong	Genetic Variation	[9]
GUCY2D	TTWNFC2	Strong	Genetic Variation	[10]
RHO	TTH0KSX	Strong	Genetic Variation	[11]
TRPM1	TTTDAI9	Strong	Genetic Variation	[12]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC24A1	DTJZ7M5	Supportive	Autosomal dominant	[13]
SLC24A1	DTJZ7M5	Strong	Genetic Variation	[14]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
RDH5	DESI4OK	Strong	Biomarker	[15]

This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BBS1	OTXSXB1K	Limited	Biomarker	[16]
CABP4	OTL0TRR5	Supportive	Autosomal dominant	[17]
CACNA1F	OTQTXNGF	Supportive	Autosomal dominant	[2]
GNAT1	OTK2SNJA	Supportive	Autosomal dominant	[18]
GNB3	OTA6HYBA	Supportive	Autosomal dominant	[19]
GPR179	OTJN40Z7	Supportive	Autosomal dominant	[20]
GRM6	OTH95T77	Supportive	Autosomal dominant	[3]
LRIT3	OTKFE4HP	Supportive	Autosomal dominant	[21]
NYX	OTAGXLYP	Supportive	Autosomal dominant	[2]
PDE6B	OTOJMB1V	Supportive	Autosomal dominant	[22]
RHO	OT33SU2R	Supportive	Autosomal dominant	[4]
SLC24A1	OTY3QMBN	Supportive	Autosomal dominant	[13]
TRPM1	OTQT1Z4O	Supportive	Autosomal dominant	[5]
GRK1	OT7MPSG7	moderate	Genetic Variation	[23]
GNAZ	OTLTDTR8	Strong	Genetic Variation	[24]
GRK7	OT083IH0	Strong	Genetic Variation	[23]
SAG	OTDNS3ZQ	Strong	Genetic Variation	[25]

References

• [1] Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.
• [2] X-Linked Congenital Stationary Night Blindness. 2008 Jan 16 [updated 2019 Jul 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [3] Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Hum Mutat. 2007 Aug;28(8):771-80. doi: 10.1002/humu.20499.
• [4] A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. Hum Mutat. 1999;13(1):75-81. doi: 10.1002/(SICI)1098-1004(1999)13:1<75::AID-HUMU9>3.0.CO;2-4.
• [5] Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5.
• [6] The ABCA4 gene in autosomal recessive cone-rod dystrophies.Am J Hum Genet. 2002 Dec;71(6):1480-2. doi: 10.1086/344829.
• [7] Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).Channels (Austin). 2018 Jan 1;12(1):17-33. doi: 10.1080/19336950.2017.1401688. Epub 2018 Jan 2.
• [8] Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1.Hum Genet. 2000 Jul;107(1):89-91. doi: 10.1007/s004390000337.
• [9] Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness.Sci Rep. 2019 Oct 2;9(1):14166. doi: 10.1038/s41598-019-50573-7.
• [10] Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. Am J Ophthalmol. 2018 Jun;190:58-68. doi: 10.1016/j.ajo.2018.03.021. Epub 2018 Mar 17.
• [11] Characterization of Ribozymes Targeting a Congenital Night Blindness Mutation in Rhodopsin Mutation.Adv Exp Med Biol. 2016;854:509-15. doi: 10.1007/978-3-319-17121-0_68.
• [12] TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.Sci Rep. 2019 Aug 19;9(1):12047. doi: 10.1038/s41598-019-46811-7.
• [13] A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet. 2010 Oct 8;87(4):523-31. doi: 10.1016/j.ajhg.2010.08.013. Epub 2010 Sep 16.
• [14] Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.Clin Genet. 2016 Jun;89(6):690-9. doi: 10.1111/cge.12746. Epub 2016 Mar 4.
• [15] Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).Ophthalmology. 2011 Aug;118(8):1661-70. doi: 10.1016/j.ophtha.2010.12.031. Epub 2011 Apr 29.
• [16] Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.J Korean Med Sci. 2019 Jun 2;34(21):e161. doi: 10.3346/jkms.2019.34.e161.
• [17] Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet. 2006 Oct;79(4):657-67. doi: 10.1086/508067. Epub 2006 Aug 23.
• [18] Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet. 1996 Jul;13(3):358-60. doi: 10.1038/ng0796-358.
• [19] Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7.
• [20] 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.
• [21] 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.
• [22] 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.
• [23] Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness.Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):2824-7. doi: 10.1073/pnas.95.6.2824.
• [24] p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.Hum Mutat. 2007 Jul;28(7):741-2. doi: 10.1002/humu.9499.
• [25] Genotyping microarray for CSNB-associated genes.Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. doi: 10.1167/iovs.09-3548. Epub 2009 Jul 2.