Disease - EDK - BIG Data Center

Disease name	Hirschsprung Disease
Classfication	Gastrointestinal system disease
Related Enzyme(s)
EFO	Orphanet:388
DOID	10487
OMIM	OMIM:142623 OMIM:600155 OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644 OMIM:613711 OMIM:613712
NCI	NCI:C34700
Definition	A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

mRNA

Gene symbol	Species	Enzyme	Editing site(s)	Editing Type	PMID	RADAR	REDIportal	Description
EDNRB	Human	ADAR1;ADAR2	1	A-to-I	12080062			When ETB proteins are functionally altered by mutation, it may lead to HSCR. The sequence of the mutant cDNA shows a nucleotide substitution from A to G at position 950, resulting in the conversion from glutamine to arginine.