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GENATLAS PHENOTYPE
last update : 02-02-2009
Symbol CSS1
Location 10q23.31
Name Canale-Smith syndrome 1
Other name(s) autoimmune lymphoproliferative disorder, autosomal dominant type Ia
Corresponding gene FAS
Other symbol(s) ALPS, ALPS1A
Main clinical features
  • characterized by variable association of hepatosplenomegaly, lymphadenopathy, hemolytic anemia, thrombocytic purpura, glomerulonephritis, neutropenia and a positive Coomb's test
  • could be associated with T cell lymphoma and Hodgkin disease
    • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type malignancy
    Gene product
    Name Apo1 antigen, CD95 (APT1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     mutations in the intracytoplasmic domain
    Remark(s)