Details of Disease | DrugMAP

General Information of Disease (ID: DISCFU40)

Disease Name	C1 inhibitor deficiency
Synonyms	complement component 4, partial deficiency OF; Quincke oedema
Disease Hierarchy	DIS9EYNV: Serpinopathy DISW08D4: Classic complement early component deficiency DISCFU40: C1 inhibitor deficiency
Disease Identifiers	MONDO ID MONDO_0007361 MESH ID C565168 UMLS CUI C1852700 OMIM ID 120790 MedGen ID 343867

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]
SERPING1	TTVQ6R9	Strong	GermlineCausalMutation	[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	Supportive	Autosomal dominant	[1]
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References

1	Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein. J Clin Invest. 1995 Mar;95(3):1299-305. doi: 10.1172/JCI117780.