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
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
102260 | F | 214926![]() |
- | Mexican | Decreased serum complement C3 | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
103076 | F | 215099![]() |
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).