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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: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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carnitine palmitoyltransferase I deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by OMIM:255120
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1 deficiency
ClinVar Annotator: match by term: Carnitine palmitoyltransferase I deficiency
ClinVar Annotator: match by term: CPT deficiency, hepatic, type IA
ClinVar Annotator: match by term: Carnitine Palmitoyltransferase IA Deficiency
ClinVar Annotator: match by term: Carnitine palmitoyltransferase type I deficiency
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency
OMIM
ClinVar
PMID:9048718 PMID:9536098 PMID:9691089 PMID:11350182 PMID:11350183 More... NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        lipid metabolism disorder 1029
          carnitine palmitoyltransferase I deficiency 1
Path 2
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        acquired metabolic disease 2908
          carbohydrate metabolism disease 1803
            glucose metabolism disease 1803
              hypoglycemia 43
                carnitine palmitoyltransferase I deficiency 1
paths to the root