Details of Disease

General Information of Disease (ID: DISZ0BWT)

Disease Name Hereditary angioedema type 1
Synonyms hereditary angioneurotic edema type 1; HAE 1; HAE-I; hereditary angioneurotic oedema type 1
Definition Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Disease Hierarchy
DISDL0QL: Hereditary angioedema with C1Inh deficiency
DISZ0BWT: Hereditary angioedema type 1
Disease Identifiers
MONDO ID
MONDO_0015053
MESH ID
D056829
UMLS CUI
C2717906
OMIM ID
106100
MedGen ID
403466
Orphanet ID
100050

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SERPING1 TTVQ6R9 Supportive Autosomal dominant [1]
C1S TT7LRQH Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SERPING1 OT6CVN45 Supportive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations. Ann Hum Genet. 2014 Mar;78(2):73-82. doi: 10.1111/ahg.12052. Epub 2014 Jan 24.
2 Severe angioneurotic oedema causing acute airway obstruction.J R Soc Med. 1988 Sep;81(9):544-5. doi: 10.1177/014107688808100918.