Details of Disease | DrugMAP

General Information of Disease (ID: DISVCAI0)

Disease Name	Complement component 3 deficiency
Synonyms	C3 deficiency, autosomal recessive; complement component 3 deficiency, autosomal recessive; C3d; C3 deficiency; C3 classic complement early component deficiency; classic complement early component deficiency caused by mutation in C3
Definition	A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.
Disease Hierarchy	DISW08D4: Classic complement early component deficiency DISVCAI0: Complement component 3 deficiency
Disease Identifiers	MONDO ID MONDO_0013417 MESH ID C565169 UMLS CUI C3151071 OMIM ID 613779 MedGen ID 462421 Orphanet ID 280133

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
C3	TTJGY7A	Strong	Biomarker	[1]
C3	TTJGY7A	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C3	OTCH5GS0	Definitive	Autosomal recessive	[2]
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References

1	A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H.J Am Soc Nephrol. 2016 Jun;27(6):1665-77. doi: 10.1681/ASN.2015040348. Epub 2015 Oct 15.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.