Details of Disease | DrugMAP

General Information of Disease (ID: DISLWX2Y)

Disease Name	Complement component 5 deficiency
Synonyms	C5D; dysfunction of the fifth component of complement (C5); complement component 5 deficiency; complement deficiency caused by mutation in C5; C5 deficiency; C5 complement deficiency
Definition	A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.
Disease Hierarchy	DISXVF3R: Immunodeficiency due to a late component of complement deficiency DISW08D4: Classic complement early component deficiency DISGN469: Complement deficiency DISLWX2Y: Complement component 5 deficiency
Disease Identifiers	MONDO ID MONDO_0012295 MESH ID C537005 UMLS CUI C0343047 OMIM ID 609536 MedGen ID 91003 SNOMED CT ID 263661007

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
C5	TTKANGO	Strong	Autosomal recessive	[1]
C5	TTKANGO	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C5	OTSL3OIC	Strong	Autosomal recessive	[1]
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References

1	Molecular characterization of three new mutations causing C5 deficiency in two non-related families. Mol Immunol. 2009 Jul;46(11-12):2340-7. doi: 10.1016/j.molimm.2009.03.026. Epub 2009 May 2.
2	A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases.Mol Immunol. 2015 Mar;64(1):170-6. doi: 10.1016/j.molimm.2014.11.010. Epub 2014 Dec 19.