Details of Disease

General Information of Disease (ID: DISXPRXM)

• Disease Name: Childhood onset GLUT1 deficiency syndrome 2
• Synonyms: paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia; ped with or without epilepsy and/or hemolytic Anemia; paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia; GLUT1DS2; paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia; GLUT1 deficiency syndrome 2; paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia; ped with or without epilepsy and/or hemolytic Anaemia; DYT-SLC2A1; paroxysmal exertion-induced dyskinesia; GLUT1 deficiency syndrome type 2; childhood onset GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 2, childhood onset; DYT18; dystonia 18; childhood onset GLUT1 deficiency syndrome type 2; ped; paroxysmal exercise-induced dystonia; PxMD-SLC2A1
• Definition: A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.
• Disease Hierarchy:
  DIS8OXEB: GLUT1 deficiency syndrome
  DIS5XVXE: Paroxysmal dyskinesia
  DISXPRXM: Childhood onset GLUT1 deficiency syndrome 2
• Disease Identifiers:
  MONDO ID: MONDO_0012805
  MESH ID: C564288
  UMLS CUI: C1842534
  OMIM ID: 612126
  MedGen ID: 330866
  Orphanet ID: 98811
  SNOMED CT ID: 724072002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	TT79TKF	Limited	Biomarker	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	DTG3T6X	Definitive	Autosomal dominant	[2]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRRT2	OTCJUBDO	Supportive	Autosomal dominant	[3]
ECHS1	OTS0593S	Strong	Biomarker	[4]
STOM	OTC8R6EH	Strong	Biomarker	[5]
SLC2A1	OTA675TJ	Definitive	Autosomal dominant	[2]

References

• [1] The glucose transporter type 1 (Glut1) syndromes.Epilepsy Behav. 2019 Feb;91:90-93. doi: 10.1016/j.yebeh.2018.06.010. Epub 2018 Jul 31.
• [2] Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24.
• [3] Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation. Brain Dev. 2013 Aug;35(7):664-6. doi: 10.1016/j.braindev.2012.07.018. Epub 2012 Aug 16.
• [4] Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19.
• [5] Glucide metabolism disorders (excluding glycogen myopathies).Handb Clin Neurol. 2013;113:1689-94. doi: 10.1016/B978-0-444-59565-2.00036-8.