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pyruvate carboxylase deficiency disease - Ontology Report - Rat Genome Database

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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;   PC-RELATED CONDITION;   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: MIM:266150
 xref: EFO:1001142;   NCI:C85040
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pyruvate carboxylase deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC130006142 ATAC-STARR-seq lymphoblastoid active region 5058 IAGP ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr11:66,868,772...66,868,881 JBrowse link
G H LOC130006147 ATAC-STARR-seq lymphoblastoid active region 5062 IAGP ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar NCBI chr11:66,958,341...66,958,390 JBrowse link
G N Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chrNW_004624767:19,589,631...19,593,302
Ensembl chrNW_004624767:19,589,631...19,593,705 		JBrowse link
G G LRFN4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chr 1:7,406,502...7,409,707
Ensembl chr 1:7,402,779...7,409,959 		JBrowse link
G P LRFN4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chr 2:5,576,625...5,579,397
Ensembl chr 2:5,576,622...5,580,009 		JBrowse link
G S Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chrNW_004936599:2,781,439...2,784,627
Ensembl chrNW_004936599:2,780,745...2,784,627 		JBrowse link
G D LRFN4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chr18:50,495,971...50,499,062
Ensembl chr18:50,495,971...50,499,068 		JBrowse link
G B LRFN4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chr11:62,214,340...62,217,742
Ensembl chr11:65,536,427...65,539,629 		JBrowse link
G C Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chrNW_004955422:18,524,786...18,527,916
Ensembl chrNW_004955422:18,524,786...18,527,916 		JBrowse link
G R Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chr 1:201,888,569...201,891,861
Ensembl chr 1:201,888,569...201,891,861 		JBrowse link
G M Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chr19:4,661,817...4,665,720
Ensembl chr19:4,661,813...4,665,695 		JBrowse link
G H LRFN4 leucine rich repeat and fibronectin type III domain containing 4 IAGP ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chr11:66,857,064...66,860,475
Ensembl chr11:66,856,647...66,860,475 		JBrowse link
G N Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency OMIM
ClinVar		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... NCBI chrNW_004624767:19,481,158...19,601,036
Ensembl chrNW_004624767:19,480,522...19,614,051 		JBrowse link
G G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency OMIM
ClinVar		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... NCBI chr 1:7,310,738...7,418,357
Ensembl chr 1:7,357,246...7,417,998 		JBrowse link
G P PC pyruvate carboxylase ISO ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency OMIM
ClinVar		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... NCBI chr 2:5,566,608...5,587,797
Ensembl chr 2:5,518,517...5,587,797 		JBrowse link
G S Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency OMIM
ClinVar		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... NCBI chrNW_004936599:2,677,770...2,793,033
Ensembl chrNW_004936599:2,677,583...2,793,197 		JBrowse link
G D PC pyruvate carboxylase ISO ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency OMIM
ClinVar		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G B PC pyruvate carboxylase ISO ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency OMIM
ClinVar		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... NCBI chr11:62,205,644...62,317,917
Ensembl chr11:65,527,662...65,551,396 		JBrowse link
G C Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency OMIM
ClinVar		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436 		JBrowse link
G R Pc pyruvate carboxylase ISO DNA:missense mutations:cds:p.A650T, p.M743I (human)
ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... RGD:737741 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G H PC pyruvate carboxylase IAGP
EXP		 DNA:missense mutations:cds:p.A650T, p.M743I (human)
ClinVar Annotator: match by term: Pyruvate carboxylase deficiency
ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... RGD:737741 NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386 		JBrowse link
G M Pcx pyruvate carboxylase ISO DNA:missense mutations:cds:p.A650T, p.M743I (human)
ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... RGD:737741 NCBI chr19:4,560,500...4,671,780
Ensembl chr19:4,560,500...4,671,780 		JBrowse link
Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624767:19,481,158...19,601,036
Ensembl chrNW_004624767:19,480,522...19,614,051 		JBrowse link
G G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:7,310,738...7,418,357
Ensembl chr 1:7,357,246...7,417,998 		JBrowse link
G P PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:5,566,608...5,587,797
Ensembl chr 2:5,518,517...5,587,797 		JBrowse link
G S Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936599:2,677,770...2,793,033
Ensembl chrNW_004936599:2,677,583...2,793,197 		JBrowse link
G D PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G B PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr11:62,205,644...62,317,917
Ensembl chr11:65,527,662...65,551,396 		JBrowse link
G C Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436 		JBrowse link
G R Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G H PC pyruvate carboxylase IAGP ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386 		JBrowse link
G M Pcx pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr19:4,560,500...4,671,780
Ensembl chr19:4,560,500...4,671,780 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Nutritional and Metabolic Diseases 94048
      disease of metabolism 94048
        mitochondrial metabolism disease 8513
          pyruvate carboxylase deficiency disease 22
            Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            Metabolic Brain Diseases 15147
              Metabolic Brain Diseases, Inborn 13835
                pyruvate carboxylase deficiency disease 22
                  Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 10
paths to the root