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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
罕见病
Acromegaly
Alias:
Growth Hormone-Secreting Pituitary Adenoma
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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
肢端肥大症,又称生长激素分泌垂体腺瘤,与垂体腺瘤1、多型和垂体巨人症有关。肢端肥大症相关的重要基因是AIP(芳香烃受体相互作用蛋白),其相关通路/超通路包括G蛋白偶联受体下游信号转导和信号转导。在肢端肥大症的背景下,已经提到了Somatostatin和Liraglutide这两种药物。附属组织包括垂体和胰腺,相关表型包括多汗症和巨舌症。
Related ID:
MALACARDS:ACR007
MESH:D000172
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
婴儿期
1-9/1000000
37
397
--
ACR007
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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