MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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expandcerebral organic aciduria (MONDO:0019213)
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expanddisease of catalytic activity (MONDO:0044976)
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expanddisease of macromolecular complex (MONDO:0044971)
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expandinborn carbohydrate metabolic disorder (MONDO:0019214)
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expandmitochondrial disease with epilepsy (MONDO:0016402)
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expandmitochondrial disease with peripheral neuropathy (MONDO:0016403)
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expandmonogenic disease with epilepsy (MONDO:0015653)
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expandpyruvate metabolism disorder (MONDO:0016789)
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expandsyndromic neurometabolic disease with X-linked intellectual disability (MONDO:0015920)
..Starting node
..expandpyruvate dehydrogenase deficiency ()

       Child Nodes:
........expandlipoic acid synthetase deficiency ()  LSDB  L: 00479;
........expandpyruvate dehydrogenase E1-alpha deficiency ()  LSDB  L: 00442;
........expandpyruvate dehydrogenase E1-beta deficiency ()  LSDB  L: 00478;
........expandpyruvate dehydrogenase E2 deficiency ()  LSDB  L: 00475;
........expandpyruvate dehydrogenase E3 deficiency ()
........expandpyruvate dehydrogenase E3-binding protein deficiency ()
........expandpyruvate dehydrogenase phosphatase deficiency ()  LSDB  L: 00477;



 Sister Nodes: 
..expandBrunner syndrome ()
..expandcreatine transporter deficiency ()
..expandDanon disease ()
..expandglycerol kinase deficiency, infantile form ()
..expandglycogen storage disease due to phosphoglycerate kinase 1 deficiency ()
..expandHSD10 disease ()  LSDB  L: 00526;
..expandhyperekplexia-epilepsy syndrome ()
..expandhypoxanthine-guanine phosphoribosyltransferase deficiency ()
..expandMenkes disease ()
..expandmitochondrial complex I deficiency ()  LSDB  L: 00011;
..expandmucopolysaccharidosis type 2 ()
..expandoculocerebrorenal syndrome ()
..expandornithine carbamoyltransferase deficiency ()
..expandphosphoribosylpyrophosphate synthetase superactivity ()
..expandpyruvate dehydrogenase deficiency ()
..expandX-linked cerebral adrenoleukodystrophy ()
..expandX-linked congenital disorder of glycosylation with intellectual disability as a major feature ()
..expandX-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19169
Name:pyruvate dehydrogenase deficiency
Definition:Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms).
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Synonyms:deficiency of pyruvic dehydrogenase; PDH; PDHC; pyruvate decarboxylase deficiency; pyruvate dehydrogenase complex deficiency; pyruvate dehydrogenase complex deficiency disease; pyruvate dehydrogenase deficiency
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Reference: MedGen:
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