Hirschsprung Disease 1 (HSCR1)

Hirschsprung Disease 1(来自ICD-11)
别称:
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
加入收藏
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
查看原文 参与反馈
相关ID:
MESH:D006627
ICD11:1772690306

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
AD
Newborn
1-5/10000
160
2147
104

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top