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Details
Link-It Detail - Disease - Hypokalemic Periodic Paralysis
Debug Stats
  • ### Total Build Time: 120 ms 28.142 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 624 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=8 ms Completed: 8 ms rowSize= 564 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 5.424 KB
  • CONCEPT_RELATIONSHIPS gt=74 ms Completed: 74 ms rowSize= 13.167 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 6.658 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypokalemic Periodic Paralysis C0238358
Definition (1)
An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Paralyses, Familial Periodic C0030443
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278685img Paralyses, Familial Periodic C0030443
img Musculoskeletal Diseases C0026857img Muscular Diseases C00268484img Paralyses, Familial Periodic C0030443
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Paralyses, Familial Periodic C0030443
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Paralyses, Familial Periodic C0030443
Relationships (34)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 26
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 14
alias_​of : 1
manifestation_​of : 18
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO42img Thyrotoxicosis C0040156
DISO_to_PHEN40img genetic aspects C0017399
DISO_to_DISO39img Thyrotoxicosis C0040156
DISO_to_PHEN38img genetic aspects C0017399
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_DISO17img Complication Aspects C1171258
DISO_to_ANAT14img In Blood C0005768
DISO_to_CHEM12img Calcium Channel C0006685
DISO_to_PHYS12img Mutation C0026882
DISO_to_CHEM11img Sodium Channel C0037492
DISO_to_PHYS11img Mutation C0026882
DISO_to_CHEM10img Sodium Channel C0037492
DISO_to_DISO10img Graves Disease C0018213
DISO_to_DISO10img chemically induced C0007994
DISO_to_DISOmanifestation_ofimg Acetazolamide may worsen symptoms C1868456
DISO_to_DISOmanifestation_ofimg Allelic disorder to hyperkalemic periodic paralysis (HYPP, 170500) C1868464
DISO_to_DISOmanifestation_ofimg Attacks last 4 to 24 hours C1868447
DISO_to_DISOmanifestation_ofimg Attacks may present during or after sleep C1868449
DISO_to_DISOmanifestation_ofimg Attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise C1868448
DISO_to_DISOmanifestation_ofimg Attacks relieved by potassium administration C1868450
DISO_to_DISOmanifestation_ofimg Attacks usually decrease or disappear after age 40 years C1868451
DISO_to_DISOmanifestation_ofimg Caused by mutation in the alpha-1S subunit of L-type voltage-dependent calcium channel gene (CACNA1S, 114208.0001). C2750313
DISO_to_DISOused_forimg Familial Periodic Paralysis C0030443
DISO_to_DISOmanifestation_ofimg Flaccid weakness or paralysis, episodic attacks C1868434
DISO_to_DISOmanifestation_ofimg Hypokalemia occurs during paralytic attacks C1868457
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanSCN4A6329sodium channel, voltage-gated, type IV, alpha subunit
img GENERIF, Score=717, Pubmed Id: 15482957, UMLKSK CUI: C0238358
img OMIM, Score=1000, UMLKSK CUI: C0238358
HumanKCNJ23759potassium inwardly-rectifying channel, subfamily J, member 2
img GENERIF, Score=679, Pubmed Id: 15831539, UMLKSK CUI: C0238358
HumanCACNA1S779calcium channel, voltage-dependent, L type, alpha 1S subunit
img GENERIF, Score=1000, Pubmed Id: 15716625, UMLKSK CUI: C0238358
img GENERIF, Score=1000, Pubmed Id: 15726306, UMLKSK CUI: C0238358
img GENERIF, Score=1000, Pubmed Id: 18229654, UMLKSK CUI: C0238358
HumanCACNA1A773calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
img GENERIF, Score=1000, Pubmed Id: 17418573, UMLKSK CUI: C0238358
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0238358Hypokalemic Periodic Paralysis0self