Lecithin:cholesterol Acyltransferase Deficiency (LCATD)

Lecithin:cholesterol Acyltransferase Deficiency(来自ICD-11)
别称:
Norum Disease
Lcat Deficiency
Lecithin Cholesterol Acyltransferase Deficiency
Familial Lcat Deficiency
Fld
Lecithin Acyltransferase Deficiency
Complete Lcat Deficiency
Lecithin-Cholesterol Acyltransferase Deficiency
Familial Lecithin-Cholesterol Acyltransferase Deficiency
Deficiency, Lecithin:cholesterol Acyltransferase
Norum's Disease
Lcatd
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lecithin:cholesterol Acyltransferase Deficiency, also known as norum disease, is related to fish-eye disease and metabolic dysfunction-associated steatotic liver disease. An important gene associated with Lecithin:cholesterol Acyltransferase Deficiency is LCAT (Lecithin-Cholesterol Acyltransferase), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Olfactory Signaling Pathway. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney, and related phenotypes are hypertriglyceridemia and decreased hdl cholesterol concentration
查看原文 参与反馈
相关ID:

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
All ages
<1/1000000
11
106
39

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