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GENATLAS PHENOTYPE
last update : 27/06/2006
Symbol EBJPAB
Location 17q25.1
Name epidermolysis bullosa junctional, with pyloric atresia
Other name(s)
  • Carmi syndrome
  • aplasia cutis congenita with gastrointestinal atresia
    • Corresponding gene ITGB4
    Other symbol(s) JEB-PA,
    Main clinical features
  • severe, generalized
  • may be associated with large areas of aplasia cutis
  • multiple genitourinary tract malformations, rudimentary ears
  • high risk of death by age 30
    • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene product
    Name integrin,beta 4 (ITGB4)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     missense, nonsense, del, ins spl
    Remark(s)