ONTOLOGY REPORT - ANNOTATIONS


Term:propionic acidemia
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Accession:DOID:14701 term browser browse the term
Definition:Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
Synonyms:exact_synonym: Acidemia Propionics;   Hyperglycinemia With Ketoacidosis And Leukopenia;   Ketotic Glycinemia;   Ketotic Glycinemias;   Ketotic Hyperglycinemia;   Ketotic Hyperglycinemias;   PCC Deficiencies;   PCC Deficiency;   Propionic Acidemias;   Propionic Aciduria;   Propionic Acidurias;   Propionicacidemia;   Propionicacidemias;   Propionicaciduria;   Propionicacidurias;   Propionyl CoA Carboxylase Deficiency;   Propionyl-CoA Carboxylase Deficiencies;   ketotic II glycinemia
 primary_id: MESH:D056693;   RDO:0004106
 alt_id: OMIM:606054
 xref: GARD:467
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propionic acidemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ggact gamma-glutamylamine cyclotransferase JBrowse link 15 109,307,683 109,336,779 RGD:8554872
G Pcca propionyl-CoA carboxylase subunit alpha JBrowse link 15 108,960,509 109,306,879 RGD:7240710
RGD:8554872
G Pccb propionyl-CoA carboxylase subunit beta JBrowse link 8 109,368,887 109,418,871 RGD:7240710
RGD:8554872

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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            propionic acidemia 3
              CoQ-Responsive OXPHOS Deficiency 0
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              organic acidemia 54
                propionic acidemia 3
                  CoQ-Responsive OXPHOS Deficiency 0
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