porphyria

Summary
Synonym
  • Hematoporphyria
  • Porphyrinopathy
  • disorder of porphyrin and hem metabolism
  • disorder of porphyrin metabolism
Definition
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
Super Class
inherited metabolic disorder
Disease Ontology
DOID:13268
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2056 EPO erythropoietin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P01588 Erythropoietin

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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: April 7, 2025