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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Angioedema, Hereditary, 3, also known as angioedema, hereditary, type iii, is related to urticaria and angioedema. An important gene associated with Angioedema, Hereditary, 3 is F12 (Coagulation Factor XII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include skin and bone, and related phenotypes are vomiting and angioedema
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
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7
43
6

Medical Symptom

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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
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IF
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