GTR Home > Conditions/Phenotypes > Congenital erythropoietic porphyria

Summary

The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver (Gross et al., 2000). Desnick and Astrin (2002) provided a comprehensive review of congenital erythropoietic porphyria pathogenesis and treatment. One patient with a phenotype suggestive of congenital erythropoietic anemia was found to have a mutation in the GATA1 gene (305371.0010) that affected UROS expression (see XLTT, 314050). [from OMIM]

Available tests

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Associated genes

Clinical features

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  • Alopecia
  • Hirsutism
  • Splenomegaly
  • Thrombocytopenia
  • Short stature
  • Corneal scarring
  • Osteopenia
  • Reduced bone mineral density
  • Abnormality of the mouth
  • Conjunctivitis
  • Hyperpigmentation of the skin
  • Atypical scarring of skin
  • Cutaneous photosensitivity
  • Hypopigmentation of the skin
  • Thickened skin
  • Cholelithiasis
  • Hemolytic anemia
  • Pathologic fracture
  • Recurrent fractures
  • Osteolysis
  • Vertebral compression fractures
  • Abnormality of urine homeostasis
  • Abnormal blistering of the skin
  • Joint contracture of the hand
  • Abnormality of the heme biosynthetic pathway
  • Abnormality of immune system physiology
  • Abnormality of dental color
  • Scleroderma
  • Self-injurious behavior
  • Loss of eyelashes
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