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GENATLAS PHENOTYPE
last update : 26-01-2009
Symbol XPA
Location 9q22.33
Name xeroderma pigmentosum, complementation group A
Corresponding gene XPA
Other symbol(s) XPAC, XP1
Main clinical features
  • heterogenous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age with neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome
  • malignant skin neoplasms were present in 70 p100 of the patients at a median age of 8 years
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene product
    Name zinc finger protein, binding photoproduct (nucleotide excision repair)
    Remark(s)