Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Increased fecal protoporphyrin concentration
Always present (100%)HP:0034283
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Abnormal circulating porphyrin concentration
Very frequent (80-99%)HP:0010472
Increased urinary porphobilinogen
Very frequent (80-99%)HP:0012217
Porphyrinuria
Very frequent (80-99%)HP:0010473
Stomach pain
Very frequent (80-99%)HP:0002027
Abnormal blistering of the skin
Frequent (30-79%)HP:0008066
Anxiety disease
Frequent (30-79%)HP:0000739
Back pain
Frequent (30-79%)HP:0003418
Behavioural/Psychiatric abnormality
Frequent (30-79%)HP:0000708
Brain and/or spinal cord issue
Frequent (30-79%)HP:0000707
Chest discomfort
Frequent (30-79%)HP:0100749
Cutaneous photosensitivity
Frequent (30-79%)HP:0000992
Dyschezia
Frequent (30-79%)HP:0002019
Elevated urinary delta-aminolevulinic acid
Frequent (30-79%)HP:0003163
Muscle weakness
Frequent (30-79%)HP:0001324
Peripheral motor neuropathy
Frequent (30-79%)HP:0007178
Proximal muscle weakness in upper limbs
Frequent (30-79%)HP:0008997
Quadriparesis
Frequent (30-79%)HP:0002273
Skin erosion
Frequent (30-79%)HP:0200041
Skin vesicle
Frequent (30-79%)HP:0200037
Autonomic dysregulation
Occasional (5-29%)HP:0012332
Elevated serum transaminases
Occasional (5-29%)HP:0002910
High blood pressure
Occasional (5-29%)HP:0000822
Hyponatremia
Occasional (5-29%)HP:0002902
Hypopigmentation of the skin
Occasional (5-29%)HP:0001010
Hyporeflexia
Occasional (5-29%)HP:0001265
Ileus
Occasional (5-29%)HP:0002595
Inappropriate antidiuretic hormone secretion
Occasional (5-29%)HP:0031218
Increased hair growth on body
Occasional (5-29%)HP:0000998
Related Conditions
Quick Facts
- SNOMED CT
- 58275005
- UMLS CUI
- C0162532
- Fully Specified Name
- Variegate 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.