Angioedema, Hereditary, 3 (HAE3)

Alias:
Angioedema, Hereditary, Type Iii
Hereditary Angioedema Type Iii
Hereditary Angioedema Type 3
Angioneurotic Edema, Hereditary, with Normal C1 Inhibitor Concentration and Function
Hae with Normal C1 Inhibitor Concentration and Function
Hereditary Angioedema with Normal C1 Inhibitor Activity
Estrogen-Sensitive Hae
Estrogen-Related Hae
Hae3
Angioneurotic Edema Hereditary with Normal C1 Inhibitor Concentration and Function
Hereditary Angioedema with Normal C1 Esterase Inhibitor Activity
F12-Related Hereditary Angioedema with Normal C1inh
Inherited Estrogen-Associated Angioneurotic Edema
Inherited Estrogen-Dependent Angioneurotic Edema
F12-Related Hae with Normal C1 Inhibitor
Inherited Estrogen-Associated Angioedema
Inherited Estrogen-Dependent Angioedema
Hereditary Angioneurotic Edema Type 3
Hae-Iii
Hae 3
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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
血管性水肿,遗传性,3型,也称为血管性水肿,遗传性,3型,与荨麻疹和血管性水肿有关。与血管性水肿,遗传性,3型相关的基因是F12(凝血因子十二),其相关通路/超通路包括细胞质钙离子升高的反应和胶原链三聚体化。附属组织包括皮肤和骨骼,相关表型为呕吐和血管性水肿。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
--
7
43
6

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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