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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:A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. (DO)
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
 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 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:25741868 NCBI chr 1:219,850,037...219,855,771
Ensembl chr 1:219,850,037...219,853,329
JBrowse link
G Pc pyruvate carboxylase ISO DNA:missense mutations:cds:p.A650T, p.M743I (human)
ClinVar Annotator: match by term: Pyruvate carboxylase deficiency
ClinVar Annotator: match by OMIM:266150
ClinVar
OMIM
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Nutritional and Metabolic Diseases 5273
      disease of metabolism 5273
        mitochondrial metabolism disease 355
          pyruvate carboxylase deficiency disease 2
            Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        central nervous system disease 10253
          brain disease 9616
            Metabolic Brain Diseases 592
              Metabolic Brain Diseases, Inborn 522
                pyruvate carboxylase deficiency disease 2
                  Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
paths to the root