Details of Disease | DrugMAP

General Information of Disease (ID: DISW8HB5)

Disease Name	Complement factor I deficiency
Synonyms	complement Factor 1 deficiency; immunodeficiency with factor I anomaly; CFID; C3 inactivator deficiency; complement factor I deficiency; complement component 3 inactivator deficiency
Disease Hierarchy	DISGN469: Complement deficiency DISW8HB5: Complement factor I deficiency
Disease Identifiers	MONDO ID MONDO_0012594 MESH ID C572568 UMLS CUI C3463916 OMIM ID 610984 MedGen ID 483045 Orphanet ID 200418 SNOMED CT ID 234621005

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
CFI	TT6ATLX	Strong	Autosomal recessive	[1]
CFI	TT6ATLX	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CFI	OTQYYX0P	Strong	Autosomal recessive	[1]
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References

1	Genetic, molecular and functional analyses of complement factor I deficiency. Eur J Immunol. 2009 Jan;39(1):310-23. doi: 10.1002/eji.200838702.
2	Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.J Clin Immunol. 2017 Nov;37(8):781-789. doi: 10.1007/s10875-017-0447-x. Epub 2017 Sep 23.