Preferred Label : Complement component 8 deficiency, type II;
Symbol : C8D2;
CISMeF acronym : C8D2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : C8 beta deficiency; C8b deficiency; Complement component 8b deficiency; C8 deficiency, type II;
Description : Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly
with meningococcus infection of rare serotypes. Most such patients are discovered
among those having their first episode of meningitis at ages older than 10 years (Ross
and Densen, 1984). Two types of inherited C8 deficiency have been reported in man:
type I (613790), in which only C8 alpha (C8A, 120950) and C8 gamma (C8G; 120930) are
deficient, and type II, in which only C8 beta is deficient (Marcus et al., 1982; Tedesco
et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the complement component-8, beta polypeptide gene (C8B, 120960.0001);
Prefixed ID : #613789;
Origin ID : 613789;
UMLS CUI : C3151080;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Manual NTBT mappings (CISMeF)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
