Decreased serum complement C3

Basic details

Preferred term: Decreased serum complement C3
Alt. terms: Decreased serum C3 | Decreased serum complement C3 level

HPO term: Decreased serum complement C3
HPO code: HP:0005421

GenIA ID: 4257
Last updated on: 2021-08-02 21:50:33

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -

Description

A reduced level of the complement component C3 in circulation.

Hierarchical classification

PARENT terms
TERM

Decreased serum complement C3

CHILD terms

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
102260 F 214926tree icon - Mexican Decreased serum complement C3 ARPC1B deficiency PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)]
103076 F 215099tree icon 2 Omani Decreased serum complement C3 Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.5(P6)]
105088 M 215638 24 Japanese Decreased serum complement C3 CTLA4 haploinsufficiency with autoimmune infiltration PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).