type I complement component 8 deficiency
MONDO:0013422Mondo
Findings
No curated finding names type I complement component 8 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.
Definition from the Mondo Disease Ontology (MONDO:0013422), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- C8AHGNC:1352
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: type I complement component 8 deficiency
- Also called
- C8 deficiency, type IC8A classic complement early component deficiencyclassic complement early component deficiency caused by mutation in C8A