Details of Disease

General Information of Disease (ID: DIS335K9)

• Disease Name: Night blindness
• Synonyms: nyctalopia
• Disease Class: 9D45: Light sensitivity impairment
• Definition: Inability to see clearly in dim light.
• Disease Hierarchy:
  DISB4B0F: Retinopathy
  DISTIM10: Blindness
  DIS335K9: Night blindness
• ICD Code:
  ICD-11: ICD-11: 9D45
  ICD-10: ICD-10: H53.6
  ICD-9: ICD-9: 368.6
  Expand ICD-11: '9D45
  Expand ICD-10: 'H53.6
  Expand ICD-9: 368.6
• Disease Identifiers:
  MONDO ID: MONDO_0004588
  MESH ID: D009755
  UMLS CUI: C0028077
  MedGen ID: 10349
  HPO ID: HP:0000662
  SNOMED CT ID: 65194006

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Vitamin A	DMJ2AH4	Approved	Small molecular drug	[1]

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
RHO	TTH0KSX	Limited	Biomarker	[2]
GRM6	TTWRP2F	moderate	Genetic Variation	[3]
CACNA1F	TTJ0SO4	Strong	Biomarker	[4]
RPGR	TTHBDA9	Strong	Genetic Variation	[5]
TRPM1	TTTDAI9	Strong	Biomarker	[6]
USH2A	TTVCLLA	Strong	Biomarker	[7]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
RDH5	DESI4OK	Strong	Genetic Variation	[8]

This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CACNA2D4	OTVYNX7N	moderate	Genetic Variation	[9]
CABP4	OTL0TRR5	Strong	Genetic Variation	[10]
DYNLT3	OT26QKCI	Strong	Genetic Variation	[5]
EYS	OT0NBPL5	Strong	Genetic Variation	[11]
GPR179	OTJN40Z7	Strong	Biomarker	[12]
LRAT	OTB7CJKY	Strong	Genetic Variation	[13]
MAPRE3	OTSCLETV	Strong	Genetic Variation	[5]
NR2E3	OTO3GBHQ	Strong	Genetic Variation	[14]
NRL	OT65MFKQ	Strong	Biomarker	[15]
NYX	OTAGXLYP	Strong	Biomarker	[4]
PABPN1	OT3MC5SE	Strong	Genetic Variation	[16]
PDE6A	OTPUTR2K	Strong	Biomarker	[17]
PDE6B	OTOJMB1V	Strong	Genetic Variation	[17]
POC1B	OTDIMIRZ	Strong	Biomarker	[18]
RP2	OTK050I3	Strong	Genetic Variation	[5]
SAG	OTDNS3ZQ	Strong	Genetic Variation	[19]

References

• [1] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 4053).
• [2] Molecular interactions and mutational impact upon rhodopsin (G90D90) for hindering dark adaptation of eye: A comparative structural level outlook for signaling mechanism in night blindness.Mutat Res. 2019 Mar;814:7-14. doi: 10.1016/j.mrfmmm.2019.01.001. Epub 2019 Jan 4.
• [3] Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci U S A. 2005 Mar 29;102(13):4884-9. doi: 10.1073/pnas.0501233102. Epub 2005 Mar 21.
• [4] Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25.
• [5] Phenotype-genotype correlations in X linked retinitis pigmentosa.J Med Genet. 1992 Sep;29(9):615-23. doi: 10.1136/jmg.29.9.615.
• [6] Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.JAMA Ophthalmol. 2018 Apr 1;136(4):389-398. doi: 10.1001/jamaophthalmol.2018.0185.
• [7] Gene mapping of the Usher syndromes.Otolaryngol Clin North Am. 1992 Oct;25(5):923-34.
• [8] Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).J Appl Genet. 2015 Aug;56(3):317-27. doi: 10.1007/s13353-015-0281-x. Epub 2015 Mar 28.
• [9] Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet. 2006 Nov;79(5):973-7. doi: 10.1086/508944. Epub 2006 Sep 27.
• [10] Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4).J Biol Chem. 2012 Oct 19;287(43):36312-21. doi: 10.1074/jbc.M112.392811. Epub 2012 Aug 30.
• [11] Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.Ophthalmology. 2010 Oct;117(10):2026-33, 2033.e1-7. doi: 10.1016/j.ophtha.2010.01.040.
• [12] GPR158/179 regulate G protein signaling by controlling localization and activity of the RGS7 complexes.J Cell Biol. 2012 Jun 11;197(6):711-9. doi: 10.1083/jcb.201202123.
• [13] Comparison between the enzymatic activity, structure and substrate binding of mouse and human lecithin retinol acyltransferase.Biochem Biophys Res Commun. 2019 Nov 19;519(4):832-837. doi: 10.1016/j.bbrc.2019.09.061. Epub 2019 Sep 24.
• [14] Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.Graefes Arch Clin Exp Ophthalmol. 2019 Jan;257(1):9-22. doi: 10.1007/s00417-018-4161-z. Epub 2018 Oct 15.
• [15] Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.Proc Natl Acad Sci U S A. 2004 Dec 21;101(51):17819-24. doi: 10.1073/pnas.0408183101. Epub 2004 Dec 9.
• [16] Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.Invest Ophthalmol Vis Sci. 2016 Oct 1;57(13):5361-5371. doi: 10.1167/iovs.16-19505.
• [17] Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.JAMA Ophthalmol. 2019 Jun 1;137(6):669-679. doi: 10.1001/jamaophthalmol.2018.6367.
• [18] Novel recessive cone-rod dystrophy caused by POC1B mutation.JAMA Ophthalmol. 2014 Oct;132(10):1185-91. doi: 10.1001/jamaophthalmol.2014.1658.
• [19] Arrestin mutations: Some cause diseases, others promise cure.Prog Mol Biol Transl Sci. 2019;161:29-45. doi: 10.1016/bs.pmbts.2018.09.004. Epub 2018 Oct 24.