Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor

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Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation NIH Genetic Testing Registry Search termAll GTRConditions/PhenotypesGenesHuman TestsMicrobe TestsLabsSearchAdvanced search for tests GTR Home > Conditions/Phenotypes > Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Hereditary C1 esterase inhibitor deficiency - dysfunctional factorSynonymsHereditary angioedema, type IIModes of inheritanceAutosomal dominant inheritance

Autosomal dominant inheritance

MedGen UID: 141047, Concept ID: C0443147, Intellectual Product

Source: Orphanet

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.

(Orphanet)

Summary

The different types of hereditary angioedema have similar signs and symptoms. \n\nHereditary angioedema due to C1-INH deficiency is further divided into two types: type I occurs when C1-INH levels are low, and type II occurs when the C1-INH protein is not functioning correctly. \n\n\n\nHereditary angioedema is broadly divided into two types, which are distinguished by levels of a protein called C1 inhibitor (C1-INH) in the blood. These types are known as hereditary angioedema due to C1-INH deficiency and hereditary angioedema with normal C1-INH. \n\nSymptoms of hereditary angioedema typically begin in childhood and worsen during puberty.  On average, untreated individuals have swelling episodes every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family.\n\nHereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The parts of the body that are most often affected by swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack. [from MedlinePlus Genetics]

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

• Deletion/duplication analysis (1)
• Sequence analysis of the entire coding region (1)

Related conditions

HelpExplore related conditions in hierarchy to find additional content.C Clinical test, R Research test, O OMIM, G GeneReviews

• CROGHereditary angioneurotic edema
• • • CROGHereditary angioedema type 1
    • CROGHereditary angioedema type 3
    • CROGHereditary C1 esterase inhibitor deficiency - dysfunctional factor

Reviews

• PubMed Clinical Queries
• Reviews in PubMed

Clinical resources

• MedGen
• Orphanet
• Clinicaltrials.gov

Practice guidelines

• Orphanet, 2009Orphanet, Non histamine-induced angioedema, 2009

Consumer resources

• Genetic Alliance
• MalaCards
• MedlinePlusGenetics (GHR)
• NCATS Office of Rare Diseases Research (GARD)
• MedlinePlus

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