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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
Gamma Heavy Chain Disease
Alias:
Franklin Disease
Gamma-Heavy Chain Disease
Gamma-Hcd
Gamma-Chain Disease
Franklin's Disease
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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
γ-重链病,又称富兰克林病,与重链病和浆细胞瘤有关,症状包括发热。与γ-重链病有关的重要基因是SUCO(富含SUN域的骨化因子),其相关通路/超通路包括水溶性维生素和辅因子的代谢、间充质干细胞和特异性标记物。附属组织包括骨髓和脾脏,相关表型包括疲劳和发热。
Related ID:
MALACARDS:GMM003
ICD11:705015637
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
<1/1000000
7
36
--
GMM003
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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