Angioedema, Hereditary, Types I and Ii malady
Genetic diseases, Rare diseases, Bone diseases, Immune diseases categories
NIH Rare Diseases:41 Hereditary angioedema (hae) is an immune disorder characterized by recurrent episodes of severe swelling. the most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. hae is caused by low levels or improper function of a protein called c1 inhibitor which affects the blood vessels. this condition is inherited in an autosomal dominant pattern.there are three types of hae, types i, ii, and iii. the types can be distinguished by their underlying causes and levels of c1 inhibitor in the blood. type i and ii are caused by mutations in the serping1 gene. some cases of type iii are associated with mutations in the f12 gene. other genes are likely to be identified as the cause of other cases of hae type iii. last updated: 5/25/2011
MalaCards based summary: Angioedema, Hereditary, Types I and Ii, also known as hereditary angioneurotic edema, is related to c1 inhibitor deficiency and angioedema, and has symptoms including edema, urticaria and ascites. An important gene associated with Angioedema, Hereditary, Types I and Ii is SERPING1 (serpin peptidase inhibitor, clade G (C1 inhibitor), member 1). Affiliated tissues include bone.
Genetics Home Reference:21 Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop 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.
OMIM:45 Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous edema and... (106100) more...
Angioedema, Hereditary, Types I and Ii, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases, Immune diseases
Characteristics (Orphanet epidemiological data):47
hereditary angioneurotic edema:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (Denmark),1-9/100000 (Norway),1-9/100000 (Spain); Age of onset: All ages
hereditary angioedema type 2:
Inheritance: Autosomal dominant; Age of onset: All ages
hereditary angioedema type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Italy); Age of onset: All ages
Symptoms by clinical synopsis from OMIM:106100
Clinical features from OMIM:106100
Symptoms:47 (show all 7)
HPO human phenotypes related to Angioedema, Hereditary, Types I and Ii:(show all 17)
MalaCards organs/tissues related to Angioedema, Hereditary, Types I and Ii:31
UniProtKB/Swiss-Prot genetic disease variations for Angioedema, Hereditary, Types I and Ii:62 (show all 40)
Clinvar genetic disease variations for Angioedema, Hereditary, Types I and Ii:6 (show all 12)
Search GEO for disease gene expression data for Angioedema, Hereditary, Types I and Ii.
26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet