Details of Disease

General Information of Disease (ID: DIS9RHTB)

• Disease Name: Type II complement component 8 deficiency
• Synonyms: complement component 8 deficiency, type 2; complement component 8B deficiency; complement component 8 deficiency type 2; C8B deficiency; C8 Beta deficiency; complement component 8 deficiency type II; C8D2; C8 deficiency type II; C8 deficiency, type 2; Human complement C8-beta deficiency; complement component 8 deficiency, type II; classic complement early component deficiency caused by mutation in C8B; C8B classic complement early component deficiency; C8 deficiency, type II
• Definition: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.
• Disease Hierarchy:
  DISXVF3R: Immunodeficiency due to a late component of complement deficiency
  DISW08D4: Classic complement early component deficiency
  DIS9RHTB: Type II complement component 8 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013421
  UMLS CUI: C3151080
  OMIM ID: 613789
  MedGen ID: 462430

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C8B	OTGDJJOK	Strong	Autosomal recessive	[1]

References

• [1] 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.