hepatoerythropoietic porphyria
ICD-10: E80.2MeSH: D017121ORPHA: 79276
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hepatoerythropoietic porphyria, sourced from HPO and Orphanet clinical annotations.
Abdominal painElevated urinary delta-aminolevulinic acidPorphyrinuriaIncreased urinary porphobilinogenAbnormal circulating enzyme concentration or activityRenal insufficiencyHypertensionMental deteriorationTachycardiaNausea and vomitingConstipationBack painCranial nerve paralysisLimb painPeripheral neuropathyNeck painRestlessnessDepressionHallucinationsAnxietySeizureExcessive daytime somnolenceConfusionHepatocellular carcinomaFeverDiarrheaRespiratory insufficiencyRespiratory paralysisMemory impairmentDistal muscle weaknessIleusHyponatremiaAbdominal distentionSomatic sensory dysfunctionWeakness of muscles of respirationMotor axonal neuropathyPseudobulbar paralysisMotor polyneuropathyProximal lower limb muscle weaknessProximal upper limb muscle weaknessParanoiaDark urineInsomniaBrain imaging abnormalityUrinary retentionUrinary incontinenceHyperhidrosisComaTremorDysuria
Classification & Codes
ICD-10 Code
E80.2MeSH Code
D017121Orphanet Code
ORPHA:79276hepatoerythropoietic porphyria
| ICD-10 | E80.2 |
| MeSH | D017121 |
| Orphanet | ORPHA:79276 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO