Congenital erythropoietic porphyria (Q55703): Difference between revisions

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Latest revision as of 03:22, 14 August 2026

Congenital erythropoietic porphyria, or Günther disease, is a rare autosomal recessive disorder due to mutations in the gene encoding uroporphyrinogen III synthase. This results in the accumulation of abnormal porphyrins in erythrocytes and manifests as very severe and mutilating photosensitivity.

Language	Label	Description	Also known as
default for all languages	ID_1935084712
English	Congenital erythropoietic porphyria	Congenital erythropoietic porphyria, or Günther disease, is a rare autosomal recessive disorder due to mutations in the gene encoding uroporphyrinogen III synthase. This results in the accumulation of abnormal porphyrins in erythrocytes and manifests as very severe and mutilating photosensitivity.