Disorder "Aganglionic Megacolon"
Found 2 records
Disorder information
Disorder name:
Aganglionic Megacolon
Disoder ID:
Synonyms:
Hirschsprung megacolon, Congenital megacolon, Megacolon, Enlarged colon lacking nerve cells
Definition:
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered activity of a Hirschsprung disease-associated gene(1)
,Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| L1CAM | L1CAM:c.2254G>A(p.Val752Met) | Expressivity | Altered activity of a Hirschsprung disease-associated gene | Gene activity study | L1CAM may modify the effects of a Hirschsprung disease-associated gene to cause intestinal aganglionosis.more | more |
| GDNF | GDNF:c.-613C | Expressivity | Altered severity | Assessment of genotype–phenotype associations | The Gdnf gene may modify the severity of HSCR in rats carrying Ednrb(sl) mutations.more | more |
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