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Standards Ontologies Notations
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 all 5 entries
Gene ID Gene Symbol Description Source
48 ACO1 aconitase 1
211 ALAS1 5'-aminolevulinate synthase 1
2056 EPO erythropoietin
2632 GBE1 1,4-alpha-glucan branching enzyme 1
3658 IREB2 iron responsive element binding protein 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
13856 Epo erythropoietin
74185 Gbe1 1,4-alpha-glucan branching enzyme 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24335 Epo erythropoietin
Displaying 1 entry
Gene ID Gene Symbol Description Source
100004455 epoa erythropoietin a
Displaying 1 entry
Gene ID Gene Symbol Description Source
856705 GLC3 1,4-alpha-glucan branching enzyme
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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: December 9, 2024