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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
Pheochromocytoma (PCC)
Alias:
Pheochromocytoma, Susceptibility to
Pheochromocytoma, Malignant
Chromaffin Cell Neoplasm
Medullary Chromaffinoma
Medullary Paraganglioma
Chromaffin Cell Tumor
Pheochromoblastoma
Phaeochromocytoma
Pheochromocytomas
Pcc
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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
嗜铬细胞瘤,又称嗜铬细胞瘤,与遗传性副神经节瘤-嗜铬细胞瘤综合征和多内分泌腺瘤,类型IIa有关,症状包括腹痛、胸痛和发热。与嗜铬细胞瘤有关的重要基因是MAX(MYC相关因子X),其相关通路/超级通路包括丙酮酸代谢和TCA循环III(动物)。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,相关表型为多汗症和蛋白尿。
Related ID:
MALACARDS:PHC003
OMIM:171300
MESH:D010673
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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190
2610
323
PHC003
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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