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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
Paget Disease of Bone 2, Early-Onset (PDB2)
Alias:
Pdb2
Paget Disease of Bone, Type 2, Early-Onset
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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
Paget病2型,早发型,也称为pdb2,与 Paget病和乳腺Paget病有关。与Paget病2型,早发型相关的基因是TNFRSF11A(肿瘤坏死因子受体超家族成员11a),其相关通路/超通路包括骨代谢中的时钟控制性自噬和凋亡和生存抗凋亡TNFs/NF-kB/Bcl-2通路。相关组织包括骨和脑,相关表型为高钙血症和头痛。
Related ID:
MALACARDS:PGT009
OMIM:602080
MESH:D010001
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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2
35
45
PGT009
Medical Symptom
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Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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Name
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No data available
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Name
MGI
Related Gene
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Publications
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References Literature
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