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ONTOLOGY REPORT - ANNOTATIONS


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;   CPT 1A Deficiency;   CPT DEFICIENCY, HEPATIC, TYPE IA;   CPT Deficiency, Hepatic, Type I;   CPT I Deficiency;   CPT1A deficiency;   Carnitine Palmitoyltransferase IA Deficiency;   Carnitine palmitoyltransferase 1 deficiency;   L-CPT1 deficiency;   carnitine palmitoyl transferase 1A deficiency;   carnitine palmitoyl transferase IA 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;   RDO:0000803
 xref: GARD:1120;   ICD10CM:E71.3;   ORDO:156
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carnitine palmitoyltransferase I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpt1a carnitine palmitoyltransferase 1A JBrowse link 1 218,568,157 218,629,679 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        lipid metabolism disorder 740
          carnitine palmitoyltransferase I deficiency 1
Path 2
Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        acquired metabolic disease 2713
          carbohydrate metabolism disease 1760
            glucose metabolism disease 1760
              hypoglycemia 41
                carnitine palmitoyltransferase I deficiency 1
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