hereditary coproporphyria

MeSH: D046349ORPHA: 79273

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 hereditary coproporphyria, sourced from HPO and Orphanet clinical annotations.

Abdominal painElevated urinary delta-aminolevulinic acidAbnormal circulating porphyrin concentrationAtypical scarring of skinNauseaDistal muscle weaknessEpisodic vomitingProximal lower limb muscle weaknessProximal upper limb muscle weaknessLimb painPorphyrinuriaAbnormal skin morphologyIncreased urinary porphobilinogenDark urineNephropathyPsychosisCutaneous photosensitivityFragile skinSeizureHepatocellular carcinomaTachycardiaRespiratory insufficiencyHyponatremiaBack painExtension of hair growth on temples to lateral eyebrowMotor polyneuropathyAbnormal blistering of the skinLong hairs growing from helix of pinnaFacial hirsutismSmall intestinal dysmotilityIntrusion symptom

Classification & Codes

MeSH Code

D046349

Orphanet Code

ORPHA:79273
hereditary coproporphyria
MeSHD046349
OrphanetORPHA:79273
Treatments0 drug(s)
Symptoms on record31 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO