Angioedema, Hereditary, 1 (HAE1)

Alias:
Hereditary Angioneurotic Edema
Hereditary Angioedema Type I
Hereditary Angioedema Type 1
C1 Esterase Inhibitor Deficiency
Angioedema, Hereditary, 1 and 2
Hae1
Hane
Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor
Angioedema, Hereditary, Types I and Ii
Hereditary Angioneurotic Edema Type 2
Hereditary Angioneurotic Edema Type 1
Hereditary Angioedema Types I and Ii
Angioneurotic Edema, Hereditary
Angioedema, Hereditary, Type I
Hereditary Angioedema, Type Ii
Angioedema, Hereditary, Type 1
Hereditary Angioedema Type 2
Angioedemas, Hereditary
Hae-Ii
Hae 2
Hae 1
Hae-I
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Angioedema, Hereditary, 1, also known as hereditary angioneurotic edema, is related to angioedema, hereditary, 3 and hereditary angioedema, and has symptoms including abdominal pain, diarrhea and vomiting. An important gene associated with Angioedema, Hereditary, 1 is SERPING1 (Serpin Family G Member 1), and among its related pathways/superpathways are Innate Immune System and Response to elevated platelet cytosolic Ca2+. The drugs Metronidazole and Vancomycin have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are abdominal pain and paresthesia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
1-9/100000
14
55
100

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
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