Details of Disease

General Information of Disease (ID: DIS5ZBK1)

• Disease Name: Type I complement component 8 deficiency
• Synonyms: C8D1; C8Ag deficiency; C8 deficiency, type 1; C8 Alpha-gamma deficiency; C8 deficiency type I; C81 deficiency; complement component 8 deficiency, type I; complement component 8 deficiency, type 1; complement component 8 deficiency type I; complement component 8 deficiency type 1; C8 deficiency, type I; C8A classic complement early component deficiency; classic complement early component deficiency caused by mutation in C8A
• Definition: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.
• Disease Hierarchy:
  DISXVF3R: Immunodeficiency due to a late component of complement deficiency
  DISW08D4: Classic complement early component deficiency
  DIS5ZBK1: Type I complement component 8 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013422
  UMLS CUI: C3151081
  OMIM ID: 613790
  MedGen ID: 462431

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
C8A	OTIJ65J4	Strong	Autosomal recessive	[1]

References

• [1] A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant Cause of C8- Deficiency in African Americans. J Immunol. 2020 Sep 15;205(6):1535-1539. doi: 10.4049/jimmunol.2000272. Epub 2020 Aug 7.