Details of Disease

General Information of Disease (ID: DISK80V8)

• Disease Name: Progressive myoclonic epilepsy type 3
• Synonyms: progressive myoclonic epilepsy 3; epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; epilepsy progressive myoclonic type 3; EPM 3; ceroid lipofuscinosis, neuronal, 14; progressive myoclonic epilepsy type 3; EPM3; KCTD7 progressive myoclonic epilepsy; progressive myoclonus epilepsy type 3; PME type 3; progressive myoclonic epilepsy due to KCTD7 deficiency; progressive myoclonic epilepsy caused by mutation in KCTD7; epilepsy, progressive myoclonic 3, with or without intracellular inclusions
• Definition: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DIS9A4K4: Neuronal ceroid lipofuscinosis
  DISAMCNS: Progressive myoclonus epilepsy
  DIS400QP: Congenital disorder of glycosylation
  DISK80V8: Progressive myoclonic epilepsy type 3
• Disease Identifiers:
  MONDO ID: MONDO_0012721
  UMLS CUI: C2673257
  OMIM ID: 611726
  MedGen ID: 388595
  Orphanet ID: 263516
  SNOMED CT ID: 783064000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCTD7	OTRU3EOK	Definitive	Autosomal recessive	[1]

References

• [1] Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Ann Neurol. 2007 Jun;61(6):579-86. doi: 10.1002/ana.21121.