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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
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency
Alias:
Scid Due to Adenosine Deaminase Deficiency
Ada Deficiency
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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
由于腺苷脱氨酶缺乏导致的严重联合免疫缺陷,也称为腺苷脱氨酶缺乏导致的严重联合免疫缺陷,与严重联合免疫缺陷、X连锁和腺苷脱氨酶缺乏有关。与由于腺苷脱氨酶缺乏导致的严重联合免疫缺陷有关的重要基因是ADA(腺苷脱氨酶)。Busulfan和免疫因子已在这种疾病的背景下被提及。附属组织包括皮肤和淋巴结,相关表型为发育不良和鼻窦炎
Related ID:
MALACARDS:SVR114
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
1-9/1000000
2
29
88
SVR114
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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