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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
Adrenal Gland Pheochromocytoma
Alias:
Pheochromocytoma
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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
肾上腺嗜铬细胞瘤,又名嗜铬细胞瘤,与儿童恶性肾上腺嗜铬细胞瘤和嗜铬细胞瘤有关,症状包括腹痛、胸痛和发热。与肾上腺嗜铬细胞瘤有关的重要基因是NGF(神经生长因子),其相关通路/超通路包括细胞骨架重塑、Rho GTPases调节肌动蛋白细胞骨架和导向线索和生长锥运动。在该疾病的背景下提到了药物多沙唑嗪和苯氧基苯胺。附属组织包括肾上腺和甲状腺。
Related ID:
MALACARDS:ADR040
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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12
86
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ADR040
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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
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Journal
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IF
No Data Found!
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