Erythropoietic porphyria (EP), including:
Erythropoietic protoporphyria (EPP);
Congenital erythropoietic porphyria (CEP);
Gunther Disease;
X-linked erythropoietic protoporphyria (XLEPP)

Erythropoietic protoporphyria is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism.

Inherited metabolic disease; Hematologic disease

(EPP) FECH; ferrochelatase [HSA:2235] [KO:K01772]
(CEP) UROS; uroporphyrinogen-III synthase [HSA:7390] [KO:K01719]
(XLEPP) ALAS2 [HSA:51218] [KO:K07390]

Bone marrow transplantation

PMID:18537592

Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H

Erythropoietic porphyrias: animal models and update in gene-based therapies.

Curr Gene Ther 8:176-86 (2008)

PMID:16385445

Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

Am J Hum Genet 78:2-14 (2006)

PMID:15574461

Ohgari Y, Sawamoto M, Yamamoto M, Kohno H, Taketani S

Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.

Hum Mol Genet 14:327-34 (2005)

PMID:11117426

Gross U, Hoffmann GF, Doss MO

Erythropoietic and hepatic porphyrias.

J Inherit Metab Dis 23:641-61 (2000)

PMID:8829650

Xu W, Astrin KH, Desnick RJ

Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.

Hum Mutat 7:187-92 (1996)

PMID:21653323

To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.

Blood 118:1443-51 (2011)