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Details
Link-It Detail - Disease - Pyruvate Carboxylase Deficiency Disease
Debug Stats
  • ### Total Build Time: 265 ms 26.295 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 376 bytes
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  • CONCEPT_ANCILLARY gt=5 ms Completed: 5 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pyruvate Carboxylase Deficiency Disease C0034341
Definition (1)
A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Pyruvate Metabolism, Inborn Errors C0034350
img Mitochondrial Diseases C0751651
img Brain Diseases, Metabolic, Inborn C0752109
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Pyruvate Metabolism, Inborn Errors C0034350
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Pyruvate Metabolism, Inborn Errors C0034350
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Mitochondrial Diseases C0751651
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
Relationships (44)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 41


Relationships:
none : 3
alias_​of : 1
associated_​with : 2
manifestation_​of : 37
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM3img PYRUVATE CARBOXYLASE C0034340
DISO_to_CHEM3img Pyruvate Carboxylase C0034340
DISO_to_DISO3img Complication Aspects C1171258
DISO_to_CHEMassociated_withimg PYRUVATE CARBOXYLASE C0034340
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg A subset of Group B patients have absence of PC protein and mRNA C1849498
DISO_to_DISOmanifestation_ofimg Acidosis, Lactic C0001125
DISO_to_DISOmanifestation_ofimg Acidosis, Renal Tubular, Type II C0268435
DISO_to_DISOmanifestation_ofimg CLONUS C0009024
DISO_to_DISOmanifestation_ofimg Can be categorized into 3 groups C1849502
DISO_to_DISOmanifestation_ofimg Caused by mutation in the pyruvate carboxylase gene (PC, 608786.0001) C1849499
DISO_to_DISOmanifestation_ofimg Cystic lesions consistent with Leigh syndrome (256000) C1849484
DISO_to_DISOmanifestation_ofimg Decreased pyruvate carboxylase (PC) activity (less than 5%) C1849487
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Group A patients die in the first years of life C3151595
DISO_to_DISOmanifestation_ofimg Group A, found in North American Indians, has lactic acidosis and psychomotor retardation C1849503
DISO_to_DISOmanifestation_ofimg Group B patients die by 3 months of age C1849505
DISO_to_DISOmanifestation_ofimg Group B, found in France and United Kingdom, severe phenotype C1849504
DISO_to_DISOmanifestation_ofimg Group C is relatively benign C1849506
DISO_to_DISOmanifestation_ofimg Hypoglycemia C0020615
DISO_to_DISOmanifestation_ofimg Immunoreactive PC protein C1849496
DISO_to_DISOmanifestation_ofimg Increased acetoacetate: beta-hydroxybutyrate ratio (Group B) C1849495
DISO_to_DISOmanifestation_ofimg Increased lactate: pyruvate ratio (Group B) C1849494
DISO_to_DISOmanifestation_ofimg Increased serum alanine C1849489
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPC5091pyruvate carboxylase
img GENERIF, Score=717, Pubmed Id: 18676167, UMLKSK CUI: C0034341
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0034341Pyruvate Carboxylase Deficiency Disease0self