erythropoietic porphyria

erythropoietic porphyria
porphyria in which excessive formation of porphyrin or its precursors occurs in bone marrow erythroblasts; usually congenital erythropoietic porphyria, but in some classification schemes (those not including a category erythrohepatic porphyria, q.v.) also including erythropoietic protoporphyria.

Medical dictionary. 2011.

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  • Erythropoietic porphyria — can refer to: * X linked sideroblastic anemia (XLSA) * congenital erythropoietic porphyria (CEP) * erythropoietic protoporphyria (EPP)ee also* porphyria * hepatic porphyriaExternal links* …   Wikipedia

  • erythropoietic protoporphyria — n a rare porphyria usu. appearing in young children and marked by excessive protoporphyrin in red blood cells, blood plasma, and feces and by skin lesions resulting from photosensitivity * * * (EPP) an autosomal dominant disorder due to mutation… …   Medical dictionary

  • congenital erythropoietic porphyria — (CEP) an autosomal recessive porphyria due to mutation in the UROS gene (locus: 10q25.2 q26.3), which encodes uroporphyrinogen III synthase, resulting in increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow… …   Medical dictionary

  • Porphyria — This article is about the medical condition. For other uses, see Porphyry (disambiguation). Porphyria Classification and external resources ICD 10 E80.0 E80.2 …   Wikipedia

  • Porphyria — Any of a group of inherited diseases characterized by skin sensitivity to sunlight and/or by intermittent acute attacks of abdominal and nerve pain. The porphyrias are caused by enzyme defects that trigger the overproduction of porphyrins by the… …   Medical dictionary

  • porphyria — /pawr fear ee euh, fuy ree euh/, n. Pathol. a defect of blood pigment metabolism in which porphyrins are produced in excess, are present in the blood, and are found in the urine. Also called hematoporphyria. [1920 25; PORPHYR(IN) + IA] * * * ▪… …   Universalium

  • porphyria — n. one of a group of rare disorders due to inborn errors of metabolism in which there are deficiencies in the enzymes involved in the biosynthesis of haem. The accumulation of the enzyme s substrate gives rise to symptoms of the disorder. The… …   The new mediacal dictionary

  • erythropoietic coproporphyria — a rare type of erythropoietic porphyria characterized by mild skin photosensitivity and elevated levels of erythrocyte coproporphyrin III …   Medical dictionary

  • erythropoietic uroporphyria — congenital erythropoietic porphyria …   Medical dictionary

  • Erythropoietic protoporphyria — Infobox Disease Name = Erythropoietic protoporphyria Caption = DiseasesDB = 4484 ICD10 = ICD10|E|80|0|e|70 (ILDS E80.010) ICD9 = ICD9|277.1 ICDO = OMIM = 177000 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 473 MeshName =… …   Wikipedia

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