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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/paraganglioma Syndrome 4 (PPGL4)
Alias:
Paragangliomas 4
Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas
Pheochromocytoma, Extraadrenal, and Cervical Paraganglioma
Paragangliomas, Hereditary Extraadrenal
Pheochromocytoma, Familial Extraadrenal
Paraganglioma, Familial Malignant
Pgl4
Pheochromocytoma Extraadrenal and Cervical Paraganglioma
Paragangliomas Hereditary Extraadrenal
Pheochromocytoma Familial Extraadrenal
Paraganglioma, Familial Chromaffin, 4
Familial Chromaffin Paraganglioma 4
Paraganglioma Familial Malignant
Paragangliomas, Type 4
Ppgl4
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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/副神经节瘤综合征4,又称副神经节瘤4,与遗传性副神经节瘤-嗜铬细胞瘤综合征和副神经节瘤有关。与嗜铬细胞瘤/副神经节瘤综合征4有关的重要基因是SDHB(琥珀酸脱氢酶复合物铁硫亚基B),其相关通路/超级通路包括糖酵解(BioCyc)和丙酮酸代谢。附属组织包括肾脏和脊髓,相关表型为神经母细胞瘤和胃肠道间质瘤。
Related ID:
MALACARDS:PHC021
OMIM:115310
MESH:D010235
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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2
14
214
PHC021
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
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Publications
No data available
References Literature
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IF
No Data Found!
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