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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
Pulmonary Alveolar Proteinosis
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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
肺泡蛋白沉积症与遗传性肺泡蛋白沉积症和赖氨酸尿症有关,症状包括咯血。与肺泡蛋白沉积症有关的重要基因是MARS1(甲硫氨酸-TRNA合成酶1),其相关通路/超级通路包括传染病和蛋白质代谢。在该疾病的背景下提到了Sargramostim和Molgramostim药物。附属组织包括肺和髓系,相关表型为在EC90时SS1P增加的存活率和稳态/代谢
Related ID:
MALACARDS:PLM006
MESH:D011649
ICD11:1869739196
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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25
286
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PLM006
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
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Journal
Year
IF
No Data Found!
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