Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel SERPING1 Genetic Variant in Two Family Members with Hereditary Angioedema.

Acta medica portuguesa - 1 Apr 2026

Cosme Ferreira Sofia, Rosa Alexandra, Sousa Filipa, Mendoza-Alvarez Alejandro, González-Montelongo Rafaela, Callero Ariel, Flores Carlos, Câmara Rita

Abstract excerpt

Hereditary angioedema is a rare, autosomal dominant, genetic disorder characterized by recurrent episodes of angioedema. Over 800 SERPING1 gene variants have been reported, and their clinical profiles and causal genetic variants are highly heterogeneous. We report two cases of hereditary angioedema (HAE) in a Portuguese family: a 27-year-old male, under lanadelumab, and his 57-year-old father, kept on on-demand...

Topics

Join the communities discussing this publication.

Angioedemas, Hereditary
Complement C1 Inactivator Proteins
Complement C1 Inhibitor Protein
SERPING1 gene
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 41662830
DOI: 10.20344/amp.24214

Genes

SERPING1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel SERPING1 Genetic Variant in Two Family Members with Hereditary Angioedema.PMID 41662830Read ↗

New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.Semantic proximity Read ↗

Type II hereditary angioedema with an apparently de novo SERPING1 mutation in China: A case report and family screening.Semantic proximity Read ↗

Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE CohortSemantic proximity Read ↗

Novel Heterozygous variant of the SERPING1 gene associated with hereditary angioedema in an Italian family based in AustraliaSemantic proximity Read ↗

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.Semantic proximity Read ↗

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.Semantic proximity Read ↗

A novel SERPING1 splice-site variant (c.1029 + 2T > A) causing hereditary angioedema type I: functional characterization and clinical analysis.Semantic proximity Read ↗

Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.Semantic proximity Read ↗

The Burden of Hereditary Angioedema in a Large Family in Brazil.Semantic proximity Read ↗

A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.Semantic proximity Read ↗

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.Semantic proximity Read ↗

Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.