Autosomal erythropoietic protoporphyria

Orpha code: 79278OMIM code: 177000

Definition

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

Disease data
Classification

Disease

Synonyms
EPP
EPP
ORPHA code
79278
OMIM code
177000
ICD10 code
E80.0
ICD11 code
5C58.12

No additional description.

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