Hirschsprung disease | Belgian Genetic Tests database

Disease Export to PDF
Name:	Hirschsprung disease
Description:	A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
ORPHAcode:	388
Synonyms:	Aganglionic megacolon Colonic aganglionosis Congenital intestinal aganglionosis HSCR
XREF(s):	Orphanet MeSH OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM MedDRA ICD-10
Analyte(s):	ATP7A ABCD1 ERBB2 ERBB3 SMO RET ECE1 EDN3 EDNRB GDNF NRTN SEMA3C SEMA3D SREBF1
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

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Hirschsprung disease - Ugent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
RET	100.00	0
EDNRB	100.00	0
EDN3	100.00	0
SOX10	100.00	0
GDNF	100.00	0
NRTN	100.00	0
SEMA3C	100.00	0
SEMA3D	100.00	0
NRG3	100.00	0
NRG1	100.00	0

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