Details of Disease

General Information of Disease (ID: DIS5B72B)

• Disease Name: Xerophthalmia
• Synonyms: conjunctival xerosis
• Disease Class: 5B55-5B5F: Vitamin deficiency
• Definition: Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma.
• Disease Hierarchy:
  DISNOENH: Keratoconjunctivitis sicca
  DIS5B72B: Xerophthalmia
• ICD Code:
  ICD-11: ICD-11: 5B55.Y
  Expand ICD-11: '5B55.Y
• Disease Identifiers:
  MONDO ID: MONDO_0000948
  MESH ID: D007638
  UMLS CUI: C0022575
  MedGen ID: 9620
  HPO ID: HP:0001097
  SNOMED CT ID: 302896008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 3 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Ciclosporin	DMAZJFX	Approved	NA	[1]
Ecabet sodium	DMLQ4FQ	Approved	Small molecular drug	[2]
Ozagrel	DMIGKA1	Phase 4	Small molecular drug	[3]

This Disease is Treated as An Indication in 5 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AL-43546	DMMXZ2E	Phase 2	NA	[4]
Chitosan-thiomer	DMB0P7X	Phase 2	NA	[5]
DE-110	DMCQL5I	Phase 2	NA	[7]
KLS-0611	DM05TBE	Phase 2	NA	[8]
RU-101	DMXYHC7	Phase 1/2	NA	[9]

This Disease is Treated as An Indication in 1 Drugs in Phase 2 Trial

Drug Name	Drug ID	Highest Status	Drug Type	REF
Cyclosporin A	DMUYKBZ	Phase 2 Trial	Small molecular drug	[6]

This Disease is Treated as An Indication in 6 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AL-59640	DMPHTX0	Investigative	NA	[10]
LRN-281	DMMHRPR	Investigative	NA	[11]
MystiTears	DMEGFMV	Investigative	NA	[11]
N-65 lacritin	DMNU089	Investigative	NA	[11]
PMUC5AC	DMKOR5E	Investigative	NA	[11]
PN-202	DMJE9MG	Investigative	NA	[11]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BRD1	TTT09OB	Strong	Biomarker	[12]
REG4	TTVZEHU	Strong	Biomarker	[13]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC11A1	DT650XW	Strong	Altered Expression	[14]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBCE	OTGBSTKS	Limited	Genetic Variation	[15]
AFG3L2	OTRPMAUX	Strong	CausalMutation	[16]
CST4	OTXXM8EH	Strong	Biomarker	[17]
FAM111A	OTVLARLG	Strong	Genetic Variation	[18]
RO60	OTLGM5A8	Strong	Biomarker	[19]
SSB	OTCCTPBR	Strong	Biomarker	[19]
SYMPK	OTYAUDXV	Strong	Biomarker	[20]

References

• [1] Cyclosporine and tacrolimus for the treatment of rheumatoid arthritis. Curr Opin Rheumatol. 2007 May;19(3):238-45.
• [2] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
• [3] ClinicalTrials.gov (NCT00200356) Edaravone-Sodium Ozagrel Comparative Post-Marketing Study on Acute Ischemic Stroke. U.S. National Institutes of Health.
• [4] ClinicalTrials.gov (NCT00760045) Clinical Pharmacological Study of AL-43546 Ophthalmic Product in Subjects With Shortened Tear Film Break Up Time. U.S. National Institutes of Health.
• [5] ClinicalTrials.gov (NCT01753752) Evaluation of the Corneal Residence Time of Chitosan-N-acetylcysteine Eye Drops in Patients With Dry Eye Syndrome After Single and Multiple Instillation. U.S. National Institutes of Health.
• [6] Cyclosporin A (CyA) in primary Sj?gren's syndrome: a double blind study. Ann Rheum Dis. 1986 Sep;45(9):732-5.
• [7] ClinicalTrials.gov (NCT01239069) Safety and Efficacy Study of DE-110 Ophthalmic Suspension for the Treatment of Dry Eye Disease. U.S. National Institutes of Health.
• [8] ClinicalTrials.gov (NCT00721656) Phase 2 Study of KLS-0611 in Patients With Dry Eye Syndromes. U.S. National Institutes of Health.
• [9] ClinicalTrials.gov (NCT01843894) A Phase 1/2, RU-101 Ophthalmic Solution in Patients With Severe Dry Eye. U.S. National Institutes of Health.
• [10] 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. (Target id: 1300).
• [11] The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
• [12] PPAR alleviated hepatocyte steatosis through reducing SOCS3 by inhibiting JAK2/STAT3 pathway.Biochem Biophys Res Commun. 2018 Apr 15;498(4):1037-1044. doi: 10.1016/j.bbrc.2018.03.110. Epub 2018 Mar 19.
• [13] REG4 is an indicator for KRAS mutant lung adenocarcinoma with TTF-1 low expression.J Cancer Res Clin Oncol. 2019 Sep;145(9):2273-2283. doi: 10.1007/s00432-019-02988-y. Epub 2019 Aug 19.
• [14] Genetic susceptibility to Behet's syndrome is associated with NRAMP1 (SLC11A1) polymorphism in Turkish patients.Rheumatol Int. 2009 May;29(7):787-91. doi: 10.1007/s00296-008-0763-9. Epub 2008 Nov 8.
• [15] Scleral lenses for severe chronic GvHD-related keratoconjunctivitis sicca: a retrospective study by the SFGM-TC.Bone Marrow Transplant. 2017 Jun;52(6):878-882. doi: 10.1038/bmt.2017.9. Epub 2017 Feb 20.
• [16] Missense mutations in the AFG3L2 proteolytic domain account for ?1.5% of European autosomal dominant cerebellar ataxias. Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342.
• [17] Changes in tear biomarker levels in keratoconus after corneal collagen crosslinking.Mol Vis. 2019 Jan 20;25:12-21. eCollection 2019.
• [18] A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.J Bone Miner Res. 2014 Apr;29(4):992-8. doi: 10.1002/jbmr.2091.
• [19] Clinical and immunological parameters of Sjgren's syndrome.Autoimmun Rev. 2018 Oct;17(10):1053-1064. doi: 10.1016/j.autrev.2018.05.005. Epub 2018 Aug 10.
• [20] The Effect of Ocular Surface Regularity on Contrast Sensitivity and Straylight in Dry Eye.Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2647-2651. doi: 10.1167/iovs.17-21894.