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Details
Link-It Detail - Disease - Episodic ataxia type 1
Debug Stats
  • ### Total Build Time: 16 ms 13.542 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.547 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.156 KB
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  • Reload Stats
Disease (1)
Episodic ataxia type 1 C1719788
Relationships (25)

Relation Types:
diso_​to_​diso : 25


Relationships:
alias_​of : 1
manifestation_​of : 20
related_​to : 4
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Ataxia, episodic C1720189
DISO_to_DISOmanifestation_ofimg Aura may occur C1838056
DISO_to_DISOrelated_toimg CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY C1834559
DISO_to_DISOmanifestation_ofimg Calf muscle enlargement C1834564
DISO_to_DISOmanifestation_ofimg Caused by mutation in the potassium voltage-gated channel, shaker-related subfamily, member 1 gene (KCNA1, 176260.0001). C1969556
DISO_to_DISOmanifestation_ofimg Childhood onset C1837352
DISO_to_DISOmanifestation_ofimg Chorea, Fibrillary C0684219
DISO_to_DISOmanifestation_ofimg Coarse Tremor C0234374
DISO_to_DISOmanifestation_ofimg Dysarthria C0013362
DISO_to_DISOmanifestation_ofimg EMG shows polyphasic continuous motor unit discharges C1969555
DISO_to_DISOalias_ofimg Episodic ataxia type 1 C1719788
DISO_to_DISOmanifestation_ofimg Extensor plantar responses (reported in 1 family) C1969553
DISO_to_DISOmanifestation_ofimg Hand posture resembling carpopedal spasm C1834561
DISO_to_DISOmanifestation_ofimg Hyperreflexia C0151889
DISO_to_DISOmanifestation_ofimg Increased serum creatine kinase during episodes C1969554
DISO_to_DISOrelated_toimg Isaacs Syndrome C0242287
DISO_to_DISOmanifestation_ofimg Jerking movements of face and limbs C1834560
DISO_to_DISOmanifestation_ofimg Leg stiffness C1969552
DISO_to_DISOrelated_toimg MYOKYMIA 1 C2674766
DISO_to_DISOrelated_toimg MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA C2750572
DISO_to_DISOmanifestation_ofimg Muscle biopsy shows enlargement of type I muscle fibers, consistent with denervation C2750573
DISO_to_DISOmanifestation_ofimg Spastic gait C0231687
DISO_to_DISOmanifestation_ofimg Symptoms precipitated by sudden movement, stress, exertion, fatigue, illness C1969557
DISO_to_DISOmanifestation_ofimg Typical attacks last from seconds to minutes, but longer occurrences have been reported C2750574
DISO_to_DISOmanifestation_ofimg Variable response to acetazolamide C1834566
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanKCNA13736potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
img GENERIF, Score=1000, Pubmed Id: 11960817, UMLKSK CUI: C1719788
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1719788Episodic ataxia type 10self