Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Enlarged liver
Always present (100%)HP:0002240
Red urine
Always present (100%)HP:0040318
Yellowing of the skin
Always present (100%)HP:0000952
Abnormal circulating porphyrin concentration
Very frequent (80-99%)HP:0010472
Blister
Very frequent (80-99%)HP:0008066
Fragile skin
Very frequent (80-99%)HP:0001030
Increased erythrocyte protoporphyrin concentration
Very frequent (80-99%)HP:0012187
Increased stool urobilinogen concentration
Very frequent (80-99%)HP:0500115
Increased urinary porphobilinogen
Very frequent (80-99%)HP:0012217
Porphyrinuria
Very frequent (80-99%)HP:0010473
Severe sun sensitivity
Very frequent (80-99%)HP:0007537
Diffusely thickened skin
Frequent (30-79%)HP:0001072
Hypopigmentation of the skin
Frequent (30-79%)HP:0001010
Increased fecal coproporphyrin 1
Frequent (30-79%)HP:0033009
Nonimmune hydrops fetalis
Frequent (30-79%)HP:0001790
Patchy darkened skin
Frequent (30-79%)HP:0000953
Purple urine
Frequent (30-79%)HP:0040322
Recurrent bacterial skin infections
Frequent (30-79%)HP:0005406
Red teeth
Frequent (30-79%)HP:0030756
Red-brown urine
Frequent (30-79%)HP:0040320
Scar tissue
Frequent (30-79%)HP:0100699
Skin erosion
Frequent (30-79%)HP:0200041
Unconjugated hyperbilirubinemia
Frequent (30-79%)HP:0008282
Abnormality of the amniotic fluid
Occasional (5-29%)HP:0001560
Anisocytosis
Occasional (5-29%)HP:0011273
Bleeding tendency
Occasional (5-29%)HP:0001892
Bone marrow biopsy shows erythroid hyperplasia
Occasional (5-29%)HP:0012132
Ciliary Madarosis
Occasional (5-29%)HP:0011457
Corneal ulcerations
Occasional (5-29%)HP:0012804
Deficient in vitamin D
Occasional (5-29%)HP:0100512
Related Conditions
Quick Facts
- SNOMED CT
- 22935002
- UMLS CUI
- C2718078
- Fully Specified Name
- Congenital erythropoietic porphyria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.