MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: inborn disorder of energy metabolism (MONDO:0019243)
Parent Node: inherited organic acidemia (MONDO:0000688)
..Starting node ..pyruvate metabolism disorder ()
Child Nodes:
........disorder of glycolysis ()
........mitochondrial pyruvate carrier deficiency () L: 00041;
........pyruvate dehydrogenase deficiency ()
........pyruvate kinase hyperactivity ()
Sister Nodes:
..cerebral organic aciduria ()
..classic organic aciduria ()
..constitutional megaloblastic anemia due to folate metabolism disorder ()
..inborn disorder of bile acid synthesis ()
..inborn error of biotin metabolism ()
..inherited amino acid metabolic disorder ()
..inherited fatty acid metabolism disorder ()
..methylmalonic acidemia ()
..pyruvate metabolism disorder ()
..tricarboxylic acid cycle disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16789
Name:	pyruvate metabolism disorder
Definition:	An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	inborn error of pyruvate metabolic process; inborn pyruvate metabolic process disorder; rare inborn error of pyruvate metabolic process; rare inborn error of pyruvate metabolic process
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal