ORPHA:79277
Congenital erythropoietic porphyria
Also called CEP, Günther disease
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- <1 / 1 000 000 (Europe)
- Rarity class
- <1 / 1 000 000
ORPHA:79277 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Severe photosensitivity
- Abnormal blistering of the skin
- Fragile skin
- Increased erythrocyte protoporphyrin concentration
- Abnormal circulating porphyrin concentration
- Increased urinary porphobilinogen