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Details
Link-It Detail - Disease - CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
Debug Stats
  • ### Total Build Time: 26 ms 10.588 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 410 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
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=17 ms Completed: 17 ms rowSize= 7.386 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 1.542 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.189 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET C1833508
Relationships (17)

Relation Types:
diso_​to_​diso : 17


Relationships:
alias_​of : 1
manifestation_​of : 16
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOalias_ofimg CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET C1833508
DISO_to_DISOmanifestation_ofimg Carnitine palmitoyltransferase II deficiency (25% of controls) C1850734
DISO_to_DISOmanifestation_ofimg Caused by mutations in the carnitine palmitoyltransferase II gene (CPT2, 600650.0002) C1850739
DISO_to_DISOmanifestation_ofimg Creatine kinase normal between episodes C1850735
DISO_to_DISOmanifestation_ofimg Exercise myoglobinuria C0268699
DISO_to_DISOmanifestation_ofimg Impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise C1850737
DISO_to_DISOmanifestation_ofimg Kidney Failure C0035078
DISO_to_DISOmanifestation_ofimg Muscle Cramp C0026821
DISO_to_DISOmanifestation_ofimg Muscle weakness following prolonged exercise C1850738
DISO_to_DISOmanifestation_ofimg Muscular stiffness C0221170
DISO_to_DISOmanifestation_ofimg Myalgia C0231528
DISO_to_DISOmanifestation_ofimg Normal plasma and tissue carnitine C1850736
DISO_to_DISOmanifestation_ofimg Onset in adolescence or adulthood C1850740
DISO_to_DISOmanifestation_ofimg RHABDOMYOLYSIS C0035410
DISO_to_DISOmanifestation_ofimg See also the lethal neonatal (608836) and infantile (600649) forms C1850743
DISO_to_DISOmanifestation_ofimg Some heterozygous CPT2 mutation carriers may be symptomatic C1850742
DISO_to_DISOmanifestation_ofimg Triggered by exercise, fasting, or other metabolic stresses C1850741
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCPT21376carnitine palmitoyltransferase 2
img GENERIF, Score=1000, Pubmed Id: 18645163, UMLKSK CUI: C1833508
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1833508CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET0self