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Details
Link-It Detail - Disease - Paralyses, Familial Periodic
Debug Stats
  • ### Total Build Time: 38 ms 24.176 KB
  • CONCEPT_NAME gt=16 ms Completed: 16 ms rowSize= 411 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 585 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=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1,002 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1,018 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 5.408 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 5.691 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 8.758 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Paralyses, Familial Periodic C0030443
Familial Periodic Paralysis
Definition (1)
heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia; these conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle; frequently associated with fluctuations in serum potassium levels; periodic paralysis may also occur as a non-familial process secondary to thyrotoxicosis and other conditions.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Muscular Diseases C0026848
img Metal Metabolism, Inborn Errors C0025534
Children (2)
img Paralysis, Hyperkalemic Periodic C0238357
img Hypokalemic Periodic Paralysis C0238358
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278684img Muscular Diseases C0026848
img Musculoskeletal Diseases C0026857img Muscular Diseases C00268483img Muscular Diseases C0026848
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Metal Metabolism, Inborn Errors C0025534
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Metal Metabolism, Inborn Errors C0025534
Relationships (11)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 7
diso_​to_​phen : 2


Relationships:
none : 5
clinically_​similar : 1
isa : 3
permuted_​term_​of : 1
use : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN22img genetic aspects C0017399
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_CHEM8img Sodium Channel C0037492
DISO_to_DISO8img Thyrotoxicosis C0040156
DISO_to_CHEM6img Potassium Channels, Inwardly Rectifying C0214230
DISO_to_DISOpermuted_term_ofimg Familial Periodic Paralysis C0030443
DISO_to_DISOuseimg Familial normokalaemic periodic paralysis C0268445
DISO_to_DISOisaimg Hyperkalemic periodic paralysis C0238357
DISO_to_DISOclinically_similarimg Hypokalemic Periodic Paralysis C0238358
DISO_to_DISOisaimg Thyrotoxic periodic paralysis C0268446
DISO_to_DISOisaimg Westphal disease C1279186
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanWNK465266WNK lysine deficient protein kinase 4
INFERRED, Score=800, UMLKSK CUI: C0030443
HumanWNK165125WNK lysine deficient protein kinase 1
INFERRED, Score=800, UMLKSK CUI: C0030443
HumanSLC4A16521solute carrier family 4 (anion exchanger), member 1
img OMIM, Score=1000, UMLKSK CUI: C0030443
HumanSCN4A6329sodium channel, voltage-gated, type IV, alpha subunit
img GENERIF, Score=651, Pubmed Id: 16890191, UMLKSK CUI: C0030443
HumanKCNJ23759potassium inwardly-rectifying channel, subfamily J, member 2
img OMIM, Score=1000, UMLKSK CUI: C0030443
img OMIM, Score=1000, UMLKSK CUI: C0030443
img OMIM, Score=1000, UMLKSK CUI: C0030443
img OMIM, Score=1000, UMLKSK CUI: C0030443
img GENERIF, Score=1000, Pubmed Id: 12045162, UMLKSK CUI: C0030443
HumanCACNA1S779calcium channel, voltage-dependent, L type, alpha 1S subunit
img GAD, Score=1000, Pubmed Id: 15711422, UMLKSK CUI: C0030443
HumanCACNA1A773calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
INFERRED, Score=800, UMLKSK CUI: C0030443
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0030443Paralyses, Familial Periodic0self