Details of Disease

General Information of Disease (ID: DISY31NP)

Disease Name Complement component 6 deficiency
Synonyms
C6D; C6 deficiency; complement component 6 deficiency, subtotal; C6 deficiency, subtotal; complement component 6 deficiency; C6 classic complement early component deficiency; classic complement early component deficiency caused by mutation in C6
Definition Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.
Disease Hierarchy
DISXVF3R: Immunodeficiency due to a late component of complement deficiency
DISW08D4: Classic complement early component deficiency
DISY31NP: Complement component 6 deficiency
Disease Identifiers
MONDO ID
MONDO_0012908
MESH ID
C567307
UMLS CUI
C2676232
OMIM ID
612446
MedGen ID
436639

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C6 OTCKR304 Strong Autosomal recessive [1]
C8B OTGDJJOK Strong CausalMutation [2]
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References

1 Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family. Mol Immunol. 2007 Apr;44(10):2756-60. doi: 10.1016/j.molimm.2006.11.022. Epub 2007 Jan 25.
2 A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. J Clin Immunol. 2009 Sep;29(5):691-5. doi: 10.1007/s10875-009-9295-7. Epub 2009 May 12.