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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:pyruvate carboxylase deficiency disease
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Accession:DOID:3651 term browser browse the term
Definition:An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
Synonyms:exact_synonym: PC DEFICIENCY;   ataxia with lactic acidosis 2;   ataxia with lactic acidosis II;   deficiency of pyruvic carboxylase;   pyruvate carboxylase deficiency;   type II ataxia with lactic acidosis
 primary_id: MESH:D015324
 alt_id: OMIM:266150;   RDO:0001758
 xref: NCI:C85040
For additional species annotation, visit the Alliance of Genome Resources.


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pyruvate carboxylase deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pc pyruvate carboxylase ISO DNA:missense mutations:cds:p.A650T, p.M743I (human)
ClinVar Annotator: match by OMIM:266150
ClinVar Annotator: match by term: Pyruvate carboxylase deficiency
OMIM
ClinVar
PMID:9585002, PMID:9585612, PMID:12112657, PMID:18676167, PMID:19306334, PMID:23430542, PMID:23973720, PMID:25058219, PMID:25741868, PMID:27290639, PMID:28492532, PMID:28831725, PMID:9585612 RGD:737741 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        mitochondrial metabolism disease 339
          pyruvate carboxylase deficiency disease 1
            Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            Metabolic Brain Diseases 573
              Metabolic Brain Diseases, Inborn 502
                pyruvate carboxylase deficiency disease 1
                  Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.