C1 Inhibitor Deficiency

Alias:
Angioedemas, Hereditary
Quincke Edema
Angioedema
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
C1 Inhibitor Deficiency, also known as angioedemas, hereditary, is related to acquired angioedema and chronic spontaneous urticaria, and has symptoms including edema and peau d'orange. An important gene associated with C1 Inhibitor Deficiency is SERPING1 (Serpin Family G Member 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Omalizumab and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include brain and small intestine.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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13
85
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
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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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