Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the mitochondrion (HP:0012103)help
Parent Node:
expand
Abnormality of mitochondrial metabolism (HP:0003287)help
..Starting node
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Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)help
Term ID: 2928
Name: Decreased activity of the pyruvate dehydrogenase complex
Synonym: Decreased activity of the PDH complex; Pyruvate dehydrogenase complex deficiency
Definition:
Comments:
Reference: HP:0002928
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand3-Methylglutaconic aciduria (HP:0003535) help
..expandAbnormal activity of mitochondrial respiratory chain (HP:0011922) help
..expandAbnormal iron deposition in mitochondria (HP:0008306) help
..expandAbnormal mitochondria in muscle tissue (HP:0008316) help
..expandDecreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950) help
..expandDecreased plasma carnitine (HP:0003234) help
..expandDeficiency or absence of cytochrome b(-245) (HP:0003514) help
..expandElectron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647) help
..expandMitochondrial depletion (HP:0030059) help
..expandMitochondrial lysine transport defect (HP:0008265) help
..expandMitochondrial malic enzyme reduced (HP:0003232) help
..expandMitochondrial propionyl-CoA carboxylase defect (HP:0003288) help
..expandMitochondrial respiratory chain defects (HP:0200125) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency.33
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040282 - Frequent17
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiencyHP:0040282 - Frequent37
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040282 - Frequent98
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0PDP1 CL E G H547049279OMIM:608782Pyruvate dehydrogenase phosphatase deficiency.52
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0PDP1 CL E G H547049279ORPHA:79246Pyruvate dehydrogenase phosphatase deficiencyHP:0040281 - Very frequent52
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040283 - Occasional11
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0002928HP:0002928Decreased activity of the pyruvate dehydrogenase complex0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23


Genes (35) :BOLA3 COX15 DLAT ECHS1 FOXRED1 GLRX5 LIPT1 MTFMT NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 PDHA1 PDHB PDHX PDP1 PET100 SDHA SLC19A3 SLC39A8 SURF1 TACO1

Diseases (13) :OMIM:614299 ORPHA:255241 OMIM:245348 OMIM:616277 ORPHA:401866 OMIM:616859 OMIM:312170 ORPHA:255138 ORPHA:255182 OMIM:245349 OMIM:608782 ORPHA:79246 ORPHA:468699
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.