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RGD uses the Human Disease Ontology (DO, 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:carnitine palmitoyltransferase I deficiency
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Accession:DOID:0090129 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. (DO)
Synonyms:exact_synonym: CARNITINE PALMITOYL TRANSFERASE 1 DEFICIENCY;   CARNITINE PALMITOYLTRANSFERASE TYPE I DEFICIENCY;   CPT 1A Deficiency;   CPT DEFICIENCY, HEPATIC, TYPE IA;   CPT Deficiency, Hepatic, Type I;   CPT I deficiency;   CPT1A deficiency;   Carnitine Palmitoyltransferase IA Deficiency;   L-CPT1 deficiency;   carnitine palmitoyl transferase 1A deficiency;   carnitine palmitoyl transferase IA deficiency;   carnitine palmitoyltransferase 1 deficiency;   hepatic carnitine palmitoyl transferase 1 deficiency;   hepatic carnitine palmitoyl transferase I deficiency;   hepatic carnitine palmitoyltransferase 1 deficiency;   liver form of carnitine palmitoyltransferase deficiency
 primary_id: MESH:C535588
 alt_id: OMIM:255120
 xref: GARD:1120;   ICD10CM:E71.3;   ORDO:156
For additional species annotation, visit the Alliance of Genome Resources.

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Nutritional and Metabolic Diseases 6817
      disease of metabolism 6817
        lipid metabolism disorder 1178
          carnitine palmitoyltransferase I deficiency 1
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          inherited metabolic disorder 4718
            carbohydrate metabolic disorder 2587
              glucose metabolism disease 1897
                hypoglycemia 48
                  carnitine palmitoyltransferase I deficiency 1
paths to the root