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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
非罕见病
C1 Inhibitor Deficiency
Alias:
Angioedemas, Hereditary
Quincke Edema
Angioedema
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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
C1抑制剂缺乏症,又称血管性水肿、遗传性血管性水肿、慢性自发性荨麻疹,症状包括水肿和橘皮样皮肤。与C1抑制剂缺乏症相关的基因包括SERPING1(丝氨酸蛋白酶家族G成员1),其相关通路/超级通路包括细胞质钙离子升高的反应和胶原链三聚体化。奥马珠单抗和乳糖醇已在该疾病的背景下被提及。附属组织包括大脑和小肠。
Related ID:
MALACARDS:C1N001
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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13
85
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C1N001
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
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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