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Details
Link-It Detail - Disease - Pyruvate Metabolism, Inborn Errors
Debug Stats
  • ### Total Build Time: 64 ms 14.237 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 366 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 566 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=9 ms Completed: 9 ms rowSize= 574 bytes
  • CONCEPT_CHILDREN gt=8 ms Completed: 8 ms rowSize= 1.441 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=8 ms Completed: 8 ms rowSize= 2.874 KB
  • CONCEPT_RELATIONSHIPS gt=14 ms Completed: 14 ms rowSize= 3.661 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 3.411 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.168 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pyruvate Metabolism, Inborn Errors C0034350
Definition (1)
Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Carbohydrate Metabolism, Inborn Errors C0007001
Children (3)
img Leigh Disease C0023264
img Pyruvate Carboxylase Deficiency Disease C0034341
img Pyruvate Dehydrogenase Complex Deficiency Disease C0034345
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Carbohydrate Metabolism, Inborn Errors C0007001
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Carbohydrate Metabolism, Inborn Errors C0007001
Relationships (6)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 4


Relationships:
none : 1
associated_​with : 1
entry_​version_​of : 1
isa : 3
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM3img Pyruvate Kinase C0034348
DISO_to_CHEMassociated_withimg Pyruvate C0244104
DISO_to_DISOisaimg Deficiency of phosphoenolpyruvate carboxykinase (GTP) C0268194
DISO_to_DISOentry_version_ofimg Inborn error of pyruvate metabolism C0034350
DISO_to_DISOisaimg Pyruvate Carboxylase Deficiency Disease C0034341
DISO_to_DISOisaimg Pyruvate Dehydrogenase Complex Deficiency Disease C0034345
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanPDHB5162pyruvate dehydrogenase (lipoamide) beta
INFERRED, Score=800, UMLKSK CUI: C0034350
HumanPDHA15160pyruvate dehydrogenase (lipoamide) alpha 1
INFERRED, Score=800, UMLKSK CUI: C0034350
HumanPC5091pyruvate carboxylase
INFERRED, Score=800, UMLKSK CUI: C0034350
HumanDLD1738dihydrolipoamide dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0034350
HumanDLAT1737dihydrolipoamide S-acetyltransferase
INFERRED, Score=800, UMLKSK CUI: C0034350
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0034350Pyruvate Metabolism, Inborn Errors0self