MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandbrain disease (MONDO:0005560)
Parent Node:
expandinherited organic acidemia (MONDO:0000688)
..Starting node
..expandcerebral organic aciduria ()

       Child Nodes:
........expand2-hydroxyglutaric aciduria ()
........expand2-methylbutyryl-CoA dehydrogenase deficiency ()
........expand3-hydroxyisobutyryl-CoA hydrolase deficiency ()
........expand3-methylglutaconic aciduria type 8 ()
........expand3-methylglutaconic aciduria type 9 ()
........expand3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia ()
........expand3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ()  LSDB  L: 00484;
........expandadenylosuccinate lyase deficiency ()
........expandautosomal recessive cutis laxa type 2A ()
........expandbiotinidase deficiency ()
........expandbranched-chain keto acid dehydrogenase kinase deficiency ()
........expandBrunner syndrome ()
........expandcerebral creatine deficiency syndrome ()
........expandcerebrotendinous xanthomatosis ()
........expandclassic homocystinuria ()
........expandcongenital bile acid synthesis defect 4 ()
........expandconstitutional megaloblastic anemia with severe neurologic disease ()
........expandde Barsy syndrome ()
........expanddopa-responsive dystonia due to sepiapterin reductase deficiency ()
........expanddystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities ()
........expandencephalopathy due to hydroxykynureninuria ()
........expandencephalopathy due to sulfite oxidase deficiency ()
........expandfatal multiple mitochondrial dysfunctions syndrome ()
........expandfumaric aciduria ()
........expandGABA aminotransferase deficiency ()
........expandglutaryl-CoA dehydrogenase deficiency ()
........expandglycine encephalopathy ()  LSDB  L: 00499;
........expandglycogen storage disease due to phosphoglycerate kinase 1 deficiency ()
........expandGriscelli syndrome type 1 ()
........expandHartnup disease ()
........expandholocarboxylase synthetase deficiency ()
........expandhomocystinuria without methylmalonic aciduria ()
........expandHSD10 disease ()  LSDB  L: 00526;
........expandhyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ()  LSDB  L: 00467;
........expandhypermethioninemia due to adenosine kinase deficiency ()
........expandhypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ()
........expandhyperprolinemia type 1 ()
........expandhyperprolinemia type 2 ()
........expandinborn aminoacylase deficiency ()
........expandinfantile cerebellar-retinal degeneration ()  LSDB  L: 00108;
........expandmethionine adenosyltransferase deficiency ()
........expandmethylmalonic acidemia with homocystinuria, type cblX ()
........expandmitochondrial pyruvate carrier deficiency ()  LSDB  L: 00041;
........expandneurometabolic disorder due to serine deficiency ()
........expandornithine carbamoyltransferase deficiency ()
........expandoxoglutaricaciduria ()
........expandphenylketonuria ()
........expandpyruvate dehydrogenase deficiency ()
........expandspasticity-ataxia-gait anomalies syndrome ()
........expandsuccinic semialdehyde dehydrogenase deficiency ()
........expandTH-deficient dopa-responsive dystonia ()
........expandtriosephosphate isomerase deficiency ()
........expandurocanic aciduria (disease) ()



 Sister Nodes: 
..expandcerebral organic aciduria ()
..expandclassic organic aciduria ()
..expandconstitutional megaloblastic anemia due to folate metabolism disorder ()
..expandinborn disorder of bile acid synthesis ()
..expandinborn error of biotin metabolism ()
..expandinherited amino acid metabolic disorder ()
..expandinherited fatty acid metabolism disorder ()
..expandmethylmalonic acidemia ()
..expandpyruvate metabolism disorder ()
..expandtricarboxylic 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:19213
Name:cerebral organic aciduria
Definition:A inherited organic acidemia that involves the brain.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:brain inherited organic acidemia; inherited organic acidemia of brain
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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