Surfactant Metabolism Dysfunction, Pulmonary, 5 (SMDP5)

Alias:
Pulmonary Alveolar Proteinosis 5
Pap Due to Csf2rb Deficiency
Csf2rb Deficiency
Smdp5
Surfactant Metabolism Dysfunction, Pulmonary, Type 5
Pulmonary Surfactant Metabolism Dysfunction 5
Pap5
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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
表面活性剂代谢障碍,肺,5,又称肺泡蛋白沉积症5,与肺表面活性蛋白b缺乏和肺泡蛋白沉积症有关,症状包括呼吸困难。与表面活性剂代谢障碍,肺,5有关的重要基因是CSF2RB(粒细胞集落刺激因子2受体亚基β)。附属组织包括肺和乳腺,相关表型为呼吸困难和运动性呼吸困难。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
12
5

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

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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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PMID
Journal
Year
IF
No Data Found!
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