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GENATLAS PHENOTYPE
last update : 27-06-2018
Symbol HSCR5
Location 1p36.12
Name Hirschsprung disease 5
Other name(s) Hirschsprung disease, cardiac defects, and autonomic dysfunction
Corresponding gene ECE1
Other symbol(s) HCAD
Main clinical features
  • characterized by an absence of enteric ganglia over various lengths of the bowel, leading to functional obstruction and resulting in life-threatening bowel distention shortly after birth, ventricular septum defect and facial dysmorphism
  • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    digestive tract/gastrointestinal
    Type disease
    Gene product
    Name endothelin converting enzyme 1 (ECE1)
    Remark(s)