Details of Disease

General Information of Disease (ID: DIS51WT2)

• Disease Name: Spasm
• Synonyms: Spasmus nutans; Spasmus nutans (disease)
• Disease Class: MB47: Tonus and reflex abnormality
• Definition: Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DIS51WT2: Spasm
• ICD Code:
  ICD-11: ICD-11: MB47.3
  ICD-10: ICD-10: R25.2
  ICD-9: ICD-9: 728.85
  Expand ICD-11: 'MB47.3
  Expand ICD-10: 'R25.2
  Expand ICD-9: 728.85
• Disease Identifiers:
  MONDO ID: MONDO_0017201
  UMLS CUI: C0546878
  MedGen ID: 154280
  HPO ID: HP:0010533
  Orphanet ID: 279882

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 9 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Cimetropium bromide	DMZHPNE	Approved	Small molecular drug	[1]
Doxacurium	DMKE7L9	Approved	Small molecular drug	[2]
Hexafluronium bromide	DMFY307	Approved	Small molecular drug	[1]
Papaverine	DMCA9QP	Approved	Small molecular drug	[3]
Pipecuronium	DM5F84A	Approved	Small molecular drug	[1]
Succinylcholine	DM2ET1M	Approved	Small molecular drug	[4]
Tizanidine	DMR2IQ4	Approved	Small molecular drug	[5]
Trospium	DMX6RTG	Approved	Small molecular drug	[6]
Vecuronium	DMP0UK2	Approved	Small molecular drug	[7]

This Disease is Treated as An Indication in 4 Discontinued Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
MS-322	DMPX6L1	Discontinued in Phase 2	Small molecular drug	[8]
PIBAXIZINE	DMOCPDJ	Discontinued in Phase 2	Small molecular drug	[9]
SILPERISONE HYDROCHLORIDE	DMY30G2	Discontinued in Phase 2	Small molecular drug	[10]
E2101	DMI9NZ3	Discontinued in Phase 1	Small molecular drug	[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
CRH	TTA7YIZ	Strong	Biomarker	[12]
HSD17B4	TTL1WGS	Strong	Biomarker	[13]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TSC1	OTFF4YZ7	Strong	Biomarker	[14]
TSC2	OT47LWI9	Strong	Biomarker	[14]

References

• [1] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
• [2] Natural products as sources of new drugs over the last 25 years. J Nat Prod. 2007 Mar;70(3):461-77.
• [3] Drug information of Papaverine, 2008. eduDrugs.
• [4] 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: 4004).
• [5] 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: 7308).
• [6] 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: 7480).
• [7] 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: 4002).
• [8] Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800008779)
• [9] Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800003720)
• [10] Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002660)
• [11] Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800013610)
• [12] Decreased cerebrospinal fluid levels of beta-endorphin and ACTH in children with infantile spasms.J Neural Transm (Vienna). 2001;108(3):363-71. doi: 10.1007/s007020170081.
• [13] D-bifunctional protein deficiency associated with drug resistant infantile spasms.Brain Dev. 2007 Jan;29(1):51-4. doi: 10.1016/j.braindev.2006.06.004. Epub 2006 Aug 21.
• [14] Management of epilepsy in tuberous sclerosis complex.Expert Rev Neurother. 2008 Mar;8(3):457-67. doi: 10.1586/14737175.8.3.457.