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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;   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
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 palmitoyl transferase 1A deficiency
OMIM
ClinVar
PMID:9048718, PMID:9691089, PMID:11350182, PMID:11350183, PMID:11441142, PMID:12111367, PMID:12189492, PMID:12351641, PMID:14517221, PMID:15110323, PMID:16146704, PMID:16169268, PMID:16958601, PMID:19181627, PMID:19217814, PMID:20301700, PMID:20696606, PMID:21253826, PMID:21763168, PMID:21962599, PMID:23090344, PMID:23700290, PMID:24033266, PMID:24847810, PMID:25449608, PMID:25741868, PMID:26010953, PMID:26820065, PMID:27066452, PMID:27341449, PMID:28125087, PMID:28468868, PMID:28492532, PMID:30101502, PMID:31319225, PMID:32088118 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        lipid metabolism disorder 900
          carnitine palmitoyltransferase I deficiency 1
Path 2
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          carbohydrate metabolism disease 1763
            glucose metabolism disease 1763
              hypoglycemia 44
                carnitine palmitoyltransferase I deficiency 1
paths to the root

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