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Ontology Browser
Term:
carnitine palmitoyltransferase I deficiency (DOID:0090129)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
hypoglycemia +     
lipid metabolism disorder +     
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
adrenocorticotropic hormone deficiency  
alpha-methylacyl-CoA racemase deficiency  
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
Barth syndrome +   
carnitine palmitoyltransferase I deficiency  
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)
carnitine palmitoyltransferase II deficiency +   
Carnitine Palmitoyltransferase II Deficiency, Infantile  
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis  
CK syndrome  
Congenital Hyperinsulinism +   
Congenital Lp(A) Deficiency  
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
Desmosterolosis  
Dyslipidemias +   
familial combined hyperlipidemia +   
familial hyperlipidemia +   
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets  
Glycosylphosphatidylinositol Deficiency +   
Hepatic Lipase Deficiency  
Hirata disease 
HMG-CoA synthase 2 deficiency  
hyperinsulinemic hypoglycemia +   
Hypertriglyceridemia, Transient Infantile  
hypoinsulinemic hypoglycemia with hemihypertrophy  
hypolipoproteinemia +   
Insulin Coma 
leucine-sensitive hypoglycemia of infancy  
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
medium chain acyl-CoA dehydrogenase deficiency  
MEND syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myopathy with Abnormal Lipid Metabolism  
Neonatal Hypoglycemia, Simulating Foetopathia Diabetica  
Pancreatic Lipase Deficiency  
peroxisomal acyl-CoA oxidase deficiency  
Refsum disease +   
rhizomelic chondrodysplasia punctate type 4  
short chain acyl-CoA dehydrogenase deficiency  
Smith-Lemli-Opitz syndrome +   
steroid inherited metabolic disorder +   
syndromic X-linked intellectual disability type 10  
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
very long chain acyl-CoA dehydrogenase deficiency  
xanthomatosis +   

Synonyms
Exact Synonyms: 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 IDs: MESH:C535588
Alternate IDs: OMIM:255120
Xrefs: GARD:1120 ;   ICD10CM:E71.3 ;   ORDO:156
Definition Sources: https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency "DO" "DO", https://www.omim.org/entry/255120 "DO" "DO"

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