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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
非罕见病
Body Mass Index Quantitative Trait Locus 11 (BMIQ11)
Alias:
Obesity
Leanness, Inherited
Obesity, Early-Onset, Susceptibility to
Obesity, Severe, and Type Ii Diabetes
Obesity, Susceptibility to, Bmiq11
Obesity , Susceptibility to
Obesity, Susceptibility to
Obesity, Mild, Early-Onset
Obesity, Association with
Obesity, Late-Onset
Obesity, Severe
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified
Obesity, Early-Onset
Simple Obesity Nos
Inherited Obesity
Obesity Bmiq11
Excess Fat
Adiposis
Bmiq11
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
身体质量指数定量性状位点11,也称为肥胖症,与瘦素缺乏或功能障碍以及2型糖尿病有关,其症状包括体重增加、肥胖、代谢性良性肥胖和单基因肥胖。与身体质量指数定量性状位点11有关的重要基因是PPARG(过氧化物酶体增殖激活受体γ),其相关通路/超通路包括葡萄糖/能量代谢和发育雌激素受体1和2的无配体激活。在该疾病的背景下,已提到的药物有美替拉酮和吲达帕胺。附属组织包括骨骼肌和肝脏,相关表型为肥胖和降低的静息能量消耗。
Related ID:
MALACARDS:BDY004
OMIM:300306
MESH:D009765
ICD11:149403041
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
457
5266
126
BDY004
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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