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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 Hyperglycinemia;   Ketotic Hyperglycinemias;   PCC Deficiencies;   PCC Deficiency;   Propionic Acidemias;   Propionic Aciduria;   Propionic Acidurias;   Propionicacidemia;   Propionicacidemias;   Propionicaciduria;   Propionicacidurias;   Propionyl-CoA Carboxylase Deficiencies;   ketotic II glycinemia;   ketotic glycinemias;   propionyl CoA carboxylase deficiency
 primary_id: MESH:D056693
 alt_id: OMIM:606054
 xref: GARD:467;   ICD10CM:E71.121;   NCI:C85030
For additional species annotation, visit the Alliance of Genome Resources.


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propionic acidemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Propionic acidemia
ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency
ClinVar PMID:19157943, PMID:22033733, PMID:28492532 NCBI chr15:109,307,683...109,336,779
Ensembl chr15:109,307,904...109,316,953
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Propionic acidemia
ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: Propionicacidemia
ClinVar Annotator: match by OMIM:606054
OMIM
ClinVar
PMID:2037281, PMID:6790853, PMID:7915138, PMID:8083196, PMID:9385377, PMID:9887338, PMID:10101253, PMID:10329019, PMID:10518292, PMID:10780784, PMID:11592820, PMID:12385775, PMID:12559849, PMID:15059621, PMID:15235904, PMID:15464417, PMID:16023992, PMID:17051315, PMID:18414145, PMID:19099776, PMID:19157943, PMID:20493181, PMID:20549364, PMID:20725044, PMID:21094621, PMID:22033733, PMID:22156789, PMID:22334403, PMID:23053474, PMID:23348723, PMID:23430860, PMID:23757202, PMID:24033266, PMID:24059531, PMID:24464666, PMID:24863100, PMID:25047749, PMID:25741868, PMID:26740382, PMID:27227689, PMID:27489777, PMID:27825584, PMID:27900673, PMID:28492532, PMID:28712602, PMID:29033250, PMID:29978829, PMID:30159853, PMID:30274917, PMID:30705822, PMID:31319225 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Propionic acidemia
ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency
ClinVar Annotator: match by OMIM:606054
OMIM
ClinVar
PMID:2154743, PMID:8023851, PMID:8225321, PMID:8295402, PMID:8411997, PMID:9452096, PMID:9683601, PMID:10447268, PMID:10502773, PMID:10780784, PMID:10820128, PMID:11136555, PMID:11749052, PMID:12007220, PMID:12189489, PMID:12409268, PMID:12559849, PMID:12757933, PMID:12888983, PMID:15059621, PMID:15464417, PMID:15890657, PMID:15949719, PMID:17051315, PMID:17415538, PMID:17966092, PMID:19099776, PMID:19238581, PMID:20549364, PMID:20725044, PMID:22033733, PMID:22334403, PMID:23053474, PMID:23430860, PMID:24033266, PMID:24059531, PMID:24516753, PMID:24863100, PMID:24916042, PMID:25047749, PMID:25087612, PMID:25636094, PMID:25741868, PMID:25851414, PMID:25865301, PMID:26830710, PMID:27227689, PMID:27243974, PMID:27578510, PMID:27776753, PMID:27900673, PMID:28492532, PMID:28649556, PMID:28853722, PMID:29033250, PMID:29679984, PMID:30013935, PMID:30274917, PMID:30311386, PMID:32860008 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISO ClinVar Annotator: match by term: Propionicacidemia ClinVar PMID:31883641 NCBI chr17:35,677,984...35,682,262
Ensembl chr17:35,677,984...35,682,259
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            propionic acidemia 4
              CoQ-Responsive OXPHOS Deficiency 0
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              organic acidemia 54
                propionic acidemia 4
                  CoQ-Responsive OXPHOS Deficiency 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.