Phenotype #0000185627

Individual ID 00245759
Associated disease HAE1;HAE2
Phenotype details Proband presenting with a HAE phenotype.
Initially identified as a type I HAE based on levels of functional and antigenic C1 Inhibitor (17% both) and low C4 levels.
Variant provisionnally attributed to a HAE of the intermediate type.
Upon analysis of plasma by immunoblotting, low level of an aberrant, low molecular mass form of C1 Inhibitor of about 70 kDa has been detected.
This species displays a smaller MW than the intact and cleaved forms C1 Inhibitor of 104 kDa and 97 kDa, respectively, naturally occuring in human plasma.
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Christian Drouet
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Christian Drouet
Date created 2019-07-08 10:17:20 +02:00 (CEST)
Date last edited 2021-03-18 18:10:38 +01:00 (CET)

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