Pearson syndrome

Summary
Synonym
  • Pearson Marrow-Pancreas Syndrome
Definition
A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
Super Class
mitochondrial metabolism disease
External Links
Disease Ontology
DOID:0060067
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
33 ACADL acyl-CoA dehydrogenase long chain
37 ACADVL acyl-CoA dehydrogenase very long chain
1374 CPT1A carnitine palmitoyltransferase 1A
1375 CPT1B carnitine palmitoyltransferase 1B
1376 CPT2 carnitine palmitoyltransferase 2
23175 LPIN1 lipin 1
56994 CHPT1 choline phosphotransferase 1

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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