carnitine palmitoyltransferase II deficiency

Summary
Synonym
  • CPT-II
  • infantile carnitine palmitoyltransferase II deficiency
  • late-onset carnitine palmitoyltransferase II deficiency
  • lethal neonatal carnitine palmitoyltransferase II deficiency
Definition
A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
Super Class
lipid metabolism disorder
External Links
Disease Ontology
DOID:0060235
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
1376 CPT2 carnitine palmitoyltransferase 2
1431 CS citrate synthase
1962 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
2632 GBE1 1,4-alpha-glucan branching enzyme 1
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
56994 CHPT1 choline phosphotransferase 1
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
The Human Phenotype Ontology
Displaying entries 1 - 10 of 117 in total
HPO ID HPO Term
HP:0000083 Renal insufficiency
HP:0000113 Polycystic kidney dysplasia
HP:0000238 Hydrocephalus
HP:0000800 Cystic renal dysplasia
HP:0001250 Seizure
HP:0001259 Coma
HP:0001274 Agenesis of corpus callosum
HP:0001290 Generalized hypotonia
HP:0001302 Pachygyria
HP:0001305 Dandy-Walker malformation
Displaying 1 entry
Gene ID Gene Symbol Description
1376 CPT2 carnitine palmitoyltransferase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024