Details of Disease

General Information of Disease (ID: DISJRMG0)

• Disease Name: Blepharospasm
• Synonyms: BEB; blepharospasm, benign essential; benign essential blepharospasm; blepharospasm
• Disease Class: 9A05: Eyelid inflammatory/movement disorder
• Definition: Involuntary twitching of the eyelid.
• Disease Hierarchy:
  DIS26D7O: Focal dystonia
  DISJRMG0: Blepharospasm
• ICD Code:
  ICD-11: ICD-11: 9A05.Z
  ICD-9: ICD-9: 333.81, 378
  Expand ICD-10: G24,H49,H50
  Expand ICD-9: 333.81,378
• Disease Identifiers:
  MONDO ID: MONDO_0011728
  MESH ID: C535428
  UMLS CUI: C2930898
  MedGen ID: 419660
  HPO ID: HP:0000643
  SNOMED CT ID: 59026006

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
Botulinum Toxin Type A	DMW67MU	Approved	NA	[1]

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
DRD5	TTS2PH3	Strong	Biomarker	[2]
TOR1A	TTF85KW	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SYNGAP1	OT41HVYQ	Definitive	Biomarker	[4]

References

• [1] Natural products as sources of new drugs over the last 25 years. J Nat Prod. 2007 Mar;70(3):461-77.
• [2] Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.Mov Disord. 2007 Jan 15;22(2):162-6. doi: 10.1002/mds.21182.
• [3] The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.Mov Disord. 2009 Mar 15;24(4):613-6. doi: 10.1002/mds.22471.
• [4] Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1.Epileptic Disord. 2017 Sep 1;19(3):339-344. doi: 10.1684/epd.2017.0922.