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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:beta-ketothiolase deficiency
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Accession:DOID:14723 term browser browse the term
Definition:An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. (DO)
Synonyms:exact_synonym: 2-alpha-methyl-3-hydroxybutyricacidemia;   2-methyl-3-hydroxybutyric acidemia;   2-methyl-3-hydroxybutyricacidemia;   3-Alpha-Ktd Deficiency;   3-Alpha-Oxothiolase Deficiency;   3-KTD DEFICIENCY;   3-Methylhydroxybutyric Acidemia;   3-alpha-ketothiolase deficiency;   3-ketothiolase deficiency;   3-oxothiolase deficiency;   Alpha-Methylacetoacetic Aciduria;   Alpha-methylacetoaceticaciduria;   B-Ketothiolase Deficiency;   DEFICIENCY OF ACETYL-COA ACETYLTRANSFERASE;   MAT DEFICIENCY;   T2 deficiency;   mitochondrial 2-methylacetoacetyl-Coa thiolase deficiency - potassium stimulated;   mitochondrial acetoacetyl-CoA thiolase deficiency;   peroxisomal thiolase deficiency
 primary_id: MESH:C535434
 alt_id: OMIM:203750
 xref: GARD:872;   NCI:C98841;   ORDO:134
For additional species annotation, visit the Alliance of Genome Resources.


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beta-ketothiolase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase OMIM
ClinVar		 PMID:1346617 PMID:1373235 PMID:1627655 PMID:1715688 PMID:4690360 More... NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:25741868 PMID:31268215 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        inherited metabolic disorder 4673
          amino acid metabolic disorder 802
            beta-ketothiolase deficiency 2
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                beta-ketothiolase deficiency 2
paths to the root