variegate porphyria
Findings
No curated finding names variegate porphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.
Definition from the Mondo Disease Ontology (MONDO:0008297), read 2026-09-29. CC BY 4.0.
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
49 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal painHPOHP:0002027
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Elevated urinary delta-aminolevulinic acidHPOHP:0003163
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Increased fecal protoporphyrin concentrationHPOHP:0034283
- 4 of 4 reported patients
- Increased urinary porphobilinogenHPOHP:0012217
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormal circulating porphyrin concentrationHPOHP:0010472
Show the remaining 37
- Chest painHPOHP:0100749
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Frequent (30% to 79% of cases)
- Motor polyneuropathyHPOHP:0007178
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Proximal upper limb muscle weaknessHPOHP:0008997
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PPOXHGNC:9280
- Definitive · Ambry Genetics · Semidominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · ClinGen · Semidominant · 2024
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
2 names
Resolves to: variegate porphyria
- Also called
- Protocoproporphyriaprotoporphyrinogen oxidase deficiency