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Results 1 - 4 of 4 for Congenital erythropoietic porphyria
  1. UROS gene 
    ... to cause a form of porphyria known as congenital erythropoietic porphyria. Most of these mutations change single protein building ... in about one-third of all cases of congenital erythropoietic porphyria, replaces the amino acid cysteine with the amino ...
    https://medlineplus.gov/genetics/gene/uros - Genetics
  2. Porphyria 
    ... pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda. ...
    https://medlineplus.gov/genetics/condition/porphyria -
  3. Dyserythropoietic anemia and thrombocytopenia 
    ... additional blood disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that reduces the ... oxygen in cells and tissues throughout the body. Congenital erythropoietic porphyria is another disorder that impairs hemoglobin production. People ...
    https://medlineplus.gov/...rythropoietic-anemia-and-thrombocytopenia - Genetics
  4. ALAS2 gene 
    ... 2003 Mar 27. Citation on PubMed Bottomley SS. Congenital sideroblastic anemias. Curr Hematol Rep. 2006 Mar;5( ...
    https://medlineplus.gov/genetics/gene/alas2 - Genetics