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GENATLAS PHENOTYPE

last update : 27-06-2018

Symbol	HSCR1
Location	10q11.21
Name	Hirschsprung disease 1
Corresponding gene	RET
Main clinical features	intestinal blockage due to a lack of intrinsic ganglion cells in the myenteric and submucosal plexuses of the distal gastrointestinal tract and an increased risk of tumors, with variable expression and reduced penetrance even in multiplex kindreds, including total colonic aganglionosis with small bowel involvement
Genetic determination	autosomal dominant
Function/system disorder	congenital malformation
	digestive tract/gastrointestinal
Type	malformation

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/loss of function	dominant loss-of-function mutations with incomplete penetrance and variable expressivity

Remark(s)

. mutated in 50% of familal cases, with an impaired control of proapoptotic activity by GDNF a hypomorphic allele of RET, accounts for most isolated (non-syndromic) cases, or with short-segment HSCR along with other autosomal susceptibility loci L769L associated with rectosigmoid form and with males