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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
Pituitary Adenoma 1, Multiple Types (PITA1)
Alias:
Pituitary Adenoma Predisposition
Pita1
Acromegaly Due to Pituitary Adenoma 1
Isolated Familial Somatotropinoma
Somatotrophinoma, Familial
Pituitary Adenoma 1
Gigantism
Pagh1
Fis
Ifs
Pituitary Adenoma, Growth Hormone-Secreting, 1
Pituitary Adenoma, Type 1, Multiple Types
Pituitary Adenoma, Familial Isolated
Familial Isolated Pituitary Adenoma
Acromegaly Due to Pituitary Adenoma
Somatotropinoma, Familial Isolated
Multiple Gastrointestinal Atresias
Familial Isolated Somatotropinomas
Familial Somatotrophinoma
Somatotropic Adenoma
Somatotroph Adenoma
Somatotropinoma
Fipa
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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
垂体腺瘤1型,多型,也称为垂体腺瘤易感性,与 Proteus 综合征和 Beckwith-Wiedemann 综合征有关,症状包括内分泌系统症状和体征。与垂体腺瘤1型,多型相关的基因是 AIP(芳香烃受体相互作用蛋白),其相关通路/超通路包括胰岛素样生长因子(IGF)的运输和摄取的调节,以及生长激素受体信号传导。在该疾病的背景下,兰瑞妥和药物溶液已被提及。附属组织包括垂体和甲状腺,相关表型为垂体腺瘤和掌趾过度生长。
Related ID:
MALACARDS:PTT056
OMIM:102200
MESH:D000172
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X隐
常显
X染色体
未知
--
11
90
37
PTT056
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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