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Details
Link-It Detail - Disease - Propionic Acidemia
Debug Stats
  • ### Total Build Time: 313 ms 26.758 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 760 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=4 ms Completed: 4 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 572 bytes
  • CONCEPT_CHILDREN gt=1 ms Completed: 1 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.870 KB
  • CONCEPT_RELATIONSHIPS gt=253 ms Completed: 253 ms rowSize= 13.726 KB
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 7.164 KB
  • CONCEPT_XREFS gt=14 ms Completed: 14 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Propionic Acidemia C0268579
Definition (1)
Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Amino Acid Metabolism, Inborn Errors C0002514
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amino Acid Metabolism, Inborn Errors C0002514
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amino Acid Metabolism, Inborn Errors C0002514
Relationships (62)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 4
diso_​to_​diso : 56
diso_​to_​phen : 1


Relationships:
none : 7
associated_​with : 2
isa : 5
manifestation_​of : 44
mapped_​to : 2
permuted_​term_​of : 1
use : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_ANAT6img In Blood C0005768
DISO_to_CHEM6img Glutamates C0017789
DISO_to_CHEM6img Methylmalonyl-CoA Decarboxylase C1123015
DISO_to_CHEM6img methylmalonyl-CoA decarboxylase C1123015
DISO_to_DISO6img Amino Acid Metabolism, Inborn Errors C0002514
DISO_to_CHEMassociated_withimg propionyl CoA carboxylase (ATP-hydrolyzing) C0072189
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ACIDOSIS LACTIC C0001125
DISO_to_DISOmapped_toimg Acidemia propionic C2931754
DISO_to_DISOmanifestation_ofimg Acidosis, Lactic C0001125
DISO_to_DISOmanifestation_ofimg Acute encephalopathy C1306587
DISO_to_DISOmanifestation_ofimg Anemia C0002871
DISO_to_DISOmanifestation_ofimg Axial hypotonia C1853743
DISO_to_DISOmanifestation_ofimg Bone Marrow Failure C0030312
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOmanifestation_ofimg Cardiomyopathies C0878544
DISO_to_DISOmanifestation_ofimg Caused by mutation in the propionyl Coenzyme A carboxylase, alpha polypeptide gene (PCCA, 232000.0001) C2751517
DISO_to_DISOmanifestation_ofimg Caused by mutation in the propionyl Coenzyme A carboxylase, beta polypeptide gene (PCCB, 232050.0001) C2751518
DISO_to_DISOmapped_toimg CoQ-responsive OXPHOS deficiency C1842463
DISO_to_DISOmanifestation_ofimg Coma C0009421
DISO_to_DISOmanifestation_ofimg Comatose C0009421
DISO_to_DISOmanifestation_ofimg Course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation C1853754
DISO_to_DISOmanifestation_ofimg Decrease in appetite C0232462
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanMCCC264087methylcrotonoyl-CoA carboxylase 2 (beta)
img OMIM, Score=1000, UMLKSK CUI: C0268579
HumanPCCB5096propionyl CoA carboxylase, beta polypeptide
img GENERIF, Score=1000, Pubmed Id: 12757933, UMLKSK CUI: C0268579
img GENERIF, Score=1000, Pubmed Id: 17051315, UMLKSK CUI: C0268579
img OMIM, Score=1000, UMLKSK CUI: C0268579
img GENERIF, Score=1000, Pubmed Id: 12007220, UMLKSK CUI: C0268579
HumanPCCA5095propionyl CoA carboxylase, alpha polypeptide
img GENERIF, Score=1000, Pubmed Id: 12559849, UMLKSK CUI: C0268579
img OMIM, Score=1000, UMLKSK CUI: C0268579
img GENERIF, Score=673, Pubmed Id: 12385775, UMLKSK CUI: C0268579
img GENERIF, Score=1000, Pubmed Id: 17051315, UMLKSK CUI: C0268579
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268579Propionic Acidemia0self