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Erythropoietic uroporphyria associated with myeloid malignancy

Disease definition

A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.

ORPHA:280379

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E80.2
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 10948
  • MedDRA: -

Detailed information

Professionals

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