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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Parent Node:
expandamino acid metabolism disease (MONDO:0037871)
Parent Node:
expandinherited organic acidemia (MONDO:0000688)
..Starting node
..expandinherited amino acid metabolic disorder ()

       Child Nodes:
........expand2-methylacetoacetyl CoA thiolase deficiency ()
........expandadenine phosphoribosyltransferase deficiency ()
........expandadenylosuccinate lyase deficiency ()
........expandalbinism ()
........expandarakawa syndrome 2 ()
........expandBrunner syndrome ()
........expandcerebral creatine deficiency syndrome ()
........expandcystinuria (disease) ()
........expanddicarboxylic aminoaciduria ()
........expanddisorder of phenylalanine metabolism ()
........expanddisorder of tyrosine metabolism ()
........expandHartnup disease ()
........expandinborn disorder of aspartate family metabolism ()
........expandinborn disorder of branched-chain amino acid metabolism ()
........expandinborn disorder of gamma-aminobutyric acid metabolism ()
........expandinborn disorder of histidine metabolism ()
........expandinborn disorder of methionine cycle and sulfur amino acid metabolism ()
........expandinborn disorder of ornithine metabolism ()
........expandinborn disorder of proline metabolism ()
........expandinborn disorder of serine family metabolism ()
........expandinborn disorder of tryptophan metabolism ()
........expandlysinuric protein intolerance ()
........expandneurological conditions associated with aminoacylase 1 deficiency ()
........expandsystemic primary carnitine deficiency disease ()  LSDB  L: 00473;
........expandurea cycle disorder ()



 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:4736
Name:inherited amino acid metabolic disorder
Definition:An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:amino acid metabolic disorder; amino acid metabolism, inborn errors; inborn amino acid metabolism disorder; inborn cellular amino acid metabolic process disorder; inborn error of amino acid metabolism; inborn error of cellular amino acid metabolic process; inborn errors of amino acid metabolism; rar
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes: SLC5A2;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal