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erythropoietic protoporphyria
Summary
- Synonym
-
- EPP
- Protoporphyria
- Definition
- An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
- Super Class
- acute porphyria
External Links
- Disease Ontology
- DOID:13270
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1056 | CEL | carboxyl ester lipase | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 8803 | SUCLA2 | succinate-CoA ligase ADP-forming subunit beta | |
| 10998 | SLC27A5 | solute carrier family 27 member 5 | |
| 83666 | PARP9 | poly(ADP-ribose) polymerase family member 9 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P19835 | Bile salt-activated lipase | |
| Q9P2R7 | Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial |
