acute intermittent porphyria
Findings
No curated finding names acute intermittent porphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.
Definition from the Mondo Disease Ontology (MONDO:0008294), read 2026-09-29. CC BY 4.0.
Features
50 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
- Very frequent (80% to 99% of cases)
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Elevated urinary delta-aminolevulinic acidHPOHP:0003163
- Very frequent (80% to 99% of cases)
- Increased urinary porphobilinogenHPOHP:0012217
- Very frequent (80% to 99% of cases)
- PorphyrinuriaHPOHP:0010473
- Very frequent (80% to 99% of cases)
- Back painHPOHP:0003418
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Cranial nerve paralysisHPOHP:0006824
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Limb painHPOHP:0009763
- Frequent (30% to 79% of cases)
- Mental deteriorationHPOHP:0001268
- Frequent (30% to 79% of cases)
- Nausea and vomitingHPOHP:0002017
- Frequent (30% to 79% of cases)
Reported absent (1)
- Abnormal skin morphologyHPOHP:0011121
Show the remaining 38
- Neck painHPOHP:0030833
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- TachycardiaHPOHP:0001649
- Frequent (30% to 79% of cases)
- Abdominal distentionHPOHP:0003270
- Occasional (5% to 29% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% 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.
- HMBSHGNC:4982
- Definitive · ClinGen · Semidominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021