Details of Disease

General Information of Disease (ID: DISB52BH)

• Disease Name: Eye disorder
• Synonyms: disease of eyeball; disorder of eye proper; disorder of globe; disorder of eyeball; disorder of eyeball of camera-type eye; eye disease; disease of eye; eyeball of camera-type eye disease or disorder; disease or disorder of eyeball of camera-type eye; eye disorder; disease of eyeball of camera-type eye; globe disease; eyeball of camera-type eye disease; disorder of eye
• Disease Class: 9A01-9A0Z: Eye disorder
• Definition: A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.
• Disease Hierarchy:
  DISQ1B1S: Disorder of visual system
  DISWD40R: Disease
  DISH0ECJ: Disorder of orbital region
  DISB52BH: Eye disorder
• ICD Code:
  ICD-11: ICD-11: 9A01-9A0Z
  ICD-10: ICD-10: H00-H59
• Disease Identifiers:
  MONDO ID: MONDO_0005328
  UMLS CUI: C4316870
  MedGen ID: 1370071
  HPO ID: HP:0000478

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
Vismed	DMEZGRX	Phase 4	NA	[1]

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
Microplasmin	DMA5DNI	Phase 3	NA	[2]

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
NP-50301	DMPMR2I	Discontinued in Phase 2	NA	[3]

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
CDH2	TT1WS0T	moderate	Biomarker	[4]
APC2	TTSMK36	Strong	Biomarker	[5]
CHMP4B	TT09EZF	Strong	Biomarker	[6]
CNGA3	TTW0QOV	Strong	Genetic Variation	[7]
CNGB3	TT0LJCG	Strong	CausalMutation	[8]
TYR	TTULVH8	Strong	Genetic Variation	[9]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC6	DT582KR	Strong	Genetic Variation	[10]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MED13	OTP5LEJE	moderate	Biomarker	[11]
CAMK2A	OTJGX19T	Strong	Genetic Variation	[12]
CAMK2B	OTS9YK3E	Strong	CausalMutation	[12]
FBXW11	OT2A6RLR	Strong	Biomarker	[13]
GRIP1	OT958HK1	Strong	Biomarker	[14]
IMPG2	OTFPSJ0T	Strong	CausalMutation	[15]
MAB21L1	OT8FJMU8	Strong	Biomarker	[16]
P4HTM	OTKELL7F	Strong	Biomarker	[17]
RDH12	OTELFRRJ	Strong	CausalMutation	[18]
RPGRIP1	OTABESO9	Strong	Genetic Variation	[19]

References

• [1] ClinicalTrials.gov (NCT02117687) A Safety and Efficacy Study of OPTIVE FUSION With VISMED Multi for the Management of Dry Eye. U.S. National Institutes of Health.
• [2] ClinicalTrials.gov (NCT00798317) Trial of Microplasmin Intravitreal Injection for Non-Surgical Treatment of Focal Vitreomacular Adhesion. The MIVI-TRUST (TG-MV-007) Trial.. U.S. National Institutes of Health.
• [3] Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800022636)
• [4] N-cadherin mediates cortical organization in the mouse brain.Dev Biol. 2007 Apr 1;304(1):22-33. doi: 10.1016/j.ydbio.2006.12.014. Epub 2006 Dec 9.
• [5] Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2. J Neurosci. 2012 May 9;32(19):6468-84. doi: 10.1523/JNEUROSCI.0590-12.2012.
• [6] A charged multivesicular body protein (CHMP4B) is required for lens growth and differentiation.Differentiation. 2019 Sep-Oct;109:16-27. doi: 10.1016/j.diff.2019.07.003. Epub 2019 Jul 31.
• [7] CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet. 2001 Oct;69(4):722-37. doi: 10.1086/323613. Epub 2001 Aug 30.
• [8] Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet. 2000 Jul;25(3):289-93. doi: 10.1038/77162.
• [9] Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1).J Invest Dermatol. 2005 Aug;125(2):397-8. doi: 10.1111/j.0022-202X.2005.23815.x.
• [10] ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.Eur J Hum Genet. 2003 Mar;11(3):215-24. doi: 10.1038/sj.ejhg.5200953.
• [11] De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8.
• [12] De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.
• [13] De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am J Hum Genet. 2019 Sep 5;105(3):640-657. doi: 10.1016/j.ajhg.2019.07.005. Epub 2019 Aug 8.
• [14] Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.Eur J Med Genet. 2015 Nov;58(11):591-6. doi: 10.1016/j.ejmg.2015.09.006. Epub 2015 Sep 16.
• [15] Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2010 Aug 13;87(2):199-208. doi: 10.1016/j.ajhg.2010.07.004. Epub 2010 Jul 30.
• [16] MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28.
• [17] Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.Eur J Med Genet. 2014 Oct;57(10):543-51. doi: 10.1016/j.ejmg.2014.07.002. Epub 2014 Jul 29.
• [18] Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.Nat Genet. 2004 Aug;36(8):850-4. doi: 10.1038/ng1394. Epub 2004 Jul 18.
• [19] A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18.