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type I complement component 8 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.
Uniprot Description A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.
Disease Ontology Description A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes.
Mondo Term and Equivalent IDs
MONDO:0013422:  type I complement component 8 deficiency
GARD:0010626: 
UMLS:C3151081: