Hirschsprung Disease 1 (HSCR1)

Alias:
Hirschsprung Disease
Aganglionic Megacolon
Colonic Aganglionosis
Congenital Intestinal Aganglionosis
Hirschsprung's Disease
Congenital Megacolon
Hscr
Hirschsprung Disease, Susceptibility to, 1
Hirschsprung Disease, Protection Against
Total Intestinal Aganglionosis
Pelvirectal Achalasia
Hscr1
Mgc
Congenital Aganglionic Megacolon
Congenital Dilatation of Colon
Hirschsprung Disease, Type 1
Megacolon, Aganglionic
Aganglionosis of Colon
Hirschsprung Megacolon
Bowel Aganglionosis
Colon Aganglionosis
Aganglionosis
Macrocolon
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hirschsprung Disease 1, also known as hirschsprung disease, is related to mowat-wilson syndrome and congenital central hypoventilation syndrome. An important gene associated with Hirschsprung Disease 1 is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Signal Transduction and Tyrosine Kinases / Adaptors. The drugs Acidophilus and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include colon and small intestine, and related phenotypes are nausea and vomiting and constipation
Related ID:
MESH:D006627
ICD11:1772690306

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-5/10000
160
2147
104

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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