Details of Disease | DrugMAP

General Information of Disease (ID: DISDL0QL)

Disease Name	Hereditary angioedema with C1Inh deficiency
Synonyms	angioedema, hereditary, type 2; angioneurotic edema, hereditary; C1 esterase inhibitor, deficiency of; angioedema, hereditary, type I; angioedema, hereditary, type 1; HAE1; angioedema, hereditary, type 1/2; angioedema, hereditary, 1 and 2
Definition	Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.
Disease Hierarchy	DIS8X53J: Hereditary angioedema DIS9EYNV: Serpinopathy DISDL0QL: Hereditary angioedema with C1Inh deficiency
Disease Identifiers	MONDO ID MONDO_0033946 UMLS CUI C4552294 MedGen ID 1812520 Orphanet ID 528623 SNOMED CT ID 1230015008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SERPING1	TTVQ6R9	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SERPING1	OT6CVN45	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.