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GENATLAS PHENOTYPE
last update : 09-07-2012
Symbol EPPX
Location Xp11.21
Name protoporphyria, erythroid, X-linked dominant
Other name(s) protoporphyria, erythropoietic, X-linked dominant
Corresponding gene ALAS2
Other symbol(s) XLEPP
Main clinical features
  • light-sensitive dermatitis commencing in childhood, usually before 10 years of age, with itching and burning, and erythema even after brief exposure to bright light
  • characterized biochemically by a high proportion of zinc-protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease
    • Genetic determination sex linked
    Function/system disorder hematology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/gain of function  
    Remark(s)