Treatments & Interventions
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal circulating porphyrin concentration
Very frequent (80-99%)HP:0010472
Cutaneous photosensitivity
Very frequent (80-99%)HP:0000992
Erythema
Very frequent (80-99%)HP:0010783
Cirrhosis
Occasional (5-29%)HP:0001394
Eczema
Occasional (5-29%)HP:0000964
Gallstones
Occasional (5-29%)HP:0001081
Liver dysfunction
Occasional (5-29%)HP:0001410
Microcytic anemia
Occasional (5-29%)HP:0001935
Water retention
Occasional (5-29%)HP:0000969
Hemolytic anaemia
HP:0001878
Hepatic failure
HP:0001399
Increased triglycerides
HP:0002155
Low tissue ferrochelatase activity
HP:6000697
Skin itching
HP:0000989
Related Conditions
Homozygous erythropoietic protoporphyria(child)
Erythropoietic protoporphyria due to ferrochelatase deficiency(child)
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2(child)
X-linked dominant erythropoietic protoporphyria(child)
Ferrochelatase deficiency(parent)
Autosomal hereditary disorder(parent)
Inborn error of metabolism(parent)
Congenital porphyria(parent)
Quick Facts
- SNOMED CT
- 51022005
- UMLS CUI
- C0162568
- Fully Specified Name
- Erythropoietic protoporphyria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
- Known Treatments
- 1
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.