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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
| P49748 | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
| P50416 | Carnitine O-palmitoyltransferase 1, liver isoform |
