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
|