Angioedema, hereditary, 1

Preferred Label : Angioedema, hereditary, 1;

Symbol : HAE1;

CISMeF acronym : HAE1; HAE2; HANE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Angioneurotic edema, hereditary; C1 esterase inhibitor deficiency; HANE; Angioedema, hereditary, type I;

Included titles and symbols : Angioedema, hereditary, type II; HAE2; Angioedema, hereditary, 2;

Description : Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. There are 2 classic types of the disorder. In type I, representing 85% of patients, serum levels of C1NH are less than 35% of normal (Cicardi and Agostoni, 1996; Bowen et al., 2001). In type II, the levels are normal or elevated, but the protein is nonfunctional. The 2 types are clinically indistinguishable. See 300145 for a discussion of angioedema induced by ACE inhibitors. Zuraw (2008) provided a detailed review of the clinical features, management, and pathogenesis of hereditary angioedema.;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the C1 esterase inhibitor gene (C1NH, 106100.0001);

Laboratory abnormalities : C1 esterase inhibitor deficiency; Low level of C4 and C2;

Prefixed ID : #106100;

Details

Origin ID

106100;

UMLS CUI

C2717906;

Automatic exact mappings (from CISMeF team)
- Hereditary angioedema [MedDRA Preferred Term]
- Hereditary angioedema (disorder) [SNOMED CT concept]
- Hereditary angioedema type 2 [ORDO Disease]
- Hereditary angioedema type II [ICD-11 More detail]
- Hereditary angioedema type II [MedDRA LLT]
- SERPING1 wt Allele [NCIt concept]
- angioedemas, hereditary [MeSH Descriptor]
- angioedemas, hereditary [MeSH concept]
- hereditary angioedema [DO Concept]
- hereditary angioedema type II [MeSH concept]
- hereditary angioedema types I and II [MeSH Descriptor]
- hereditary angioneurotic edema [SNOMED Notion]
- hereditary angioneurotic edema [TUV Concept]
- hereditary angioneurotic edema [TUV Term]
- serpin family G member 1 [ORDO Gene]
- serpin family G member 1 [HGNC gene]
Broader ORDO disease(s)
- Hereditary angioedema [ORDO Disease]
- Non-histaminic angioedema [ORDO Disease]
Currated CISMeF NLP mapping
- C1 esterase inhibitor deficiency [MedDRA LLT]
- Hereditary C1 esterase inhibitor deficiency - deficient factor (disorder) [SNOMED CT concept]
- Hereditary angioedema type 1 [ORDO Disease]
- Hereditary angioedema type I [ICD-11 More detail]
- Hereditary angioedema type I [MedDRA LLT]
- hereditary angioedema type I [Disease (Nov.)]
- hereditary angioedema type I [MeSH concept]
DO Cross reference
- hereditary angioedema [DO Concept]
Genes related to phenotype
- Complement component 1 inhibitor [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Angioedema [HPO term]
- Autoimmunity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Axonal peripheral neuropathy [HPO term]
- Childhood onset [HPO term]
- Decreased serum complement C4 [HPO term]
- Diarrhea [HPO term]
- Erythema [HPO term]
- Hypoesthesia [HPO term]
- Intestinal edema [HPO term]
- Laryngeal edema [HPO term]
- Muscle weakness [HPO term]
- Nerve biopsy shows axonal degeneration [HPO term]
- Periorbital edema [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pharyngeal edema [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Hereditary angioedema [ORDO Disease]
- Hereditary angioedema type 1 [ORDO Disease]
- Hereditary angioedema type 2 [ORDO Disease]
See also inter- (CISMeF)
- hereditary angioedema type II [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary angioedema type 1 [ORDO Disease]
- Hereditary angioedema type I [MedDRA LLT]
- hereditary angioedema type I [MeSH concept]
- hereditary angioedema type I [Disease (Nov.)]
Validated automatic mappings to NTBT
- Hereditary angioedema [ORDO Disease]
- hereditary angioedema [Disease (Nov.)]

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