Details of Disease

General Information of Disease (ID: DISD9YAA)

• Disease Name: Familial periodic paralysis
• Synonyms: periodic paralyzes, normokalemic; periodic paralyzes, familial; periodic paralysis, normokalemic; periodic paralysis, familial; paralyzes, normokalemic periodic; paralysis, normokalemic periodic; paralysis, familial periodic; normokalemic periodic paralyzes; normokalemic periodic paralysis; normokalemic periodic paralyses; genetic periodic paralysis; familial periodic paralyzes; familial periodic paralyses; hereditary periodic paralysis (disease); familial periodic paralysis
• Definition: A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.
• Disease Hierarchy:
  DIS0HB59: Inborn metal metabolism disorder
  :
  DISD715V: Hereditary neurological disease
  DISD9YAA: Familial periodic paralysis
• Disease Identifiers:
  MONDO ID: MONDO_0000995
  MESH ID: D010245
  UMLS CUI: C0030443
  MedGen ID: 18291
  Orphanet ID: 371433
  SNOMED CT ID: 267607008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNJ2	TTH7UO3	Disputed	Genetic Variation	[1]
CACNA1S	TT94HRF	Strong	Genetic Variation	[2]
KCNJ18	TTVW8QH	Strong	Biomarker	[3]
RYR1	TTU5CIX	Strong	Biomarker	[4]
SCN4A	TT84DRB	Strong	Genetic Variation	[5]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MCM3AP	OT895FEC	moderate	Genetic Variation	[6]
KCNE3	OTKWKR91	Strong	Biomarker	[7]

References

• [1] Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.Muscle Nerve. 2015 Feb;51(2):192-6. doi: 10.1002/mus.24293. Epub 2014 Nov 19.
• [2] Genotype and phenotype analysis of patients with sporadic periodic paralysis.Am J Med Sci. 2012 Apr;343(4):281-5. doi: 10.1097/MAJ.0b013e31822b430c.
• [3] Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):49-52. doi: 10.1136/jnnp-2014-309293. Epub 2015 Apr 16.
• [4] Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.Neurology. 2018 Jan 30;90(5):e412-e418. doi: 10.1212/WNL.0000000000004894. Epub 2018 Jan 3.
• [5] Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review.Channels (Austin). 2019 Dec;13(1):110-119. doi: 10.1080/19336950.2019.1600967.
• [6] Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.Muscle Nerve. 2019 Sep;60(3):311-314. doi: 10.1002/mus.26622. Epub 2019 Jul 7.
• [7] Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis.FASEB J. 2006 Feb;20(2):293-301. doi: 10.1096/fj.05-5070com.