Details of Disease

General Information of Disease (ID: DIS0KF9P)

Disease Name C3 glomerulonephritis
Synonyms CFHR5 deficiency; complement-mediated membranoproliferative glomerulonephritis; nephropathy due to CFHR5 deficiency
Definition Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.
Disease Hierarchy
DISECBR1: Hereditary nephritis
DISLMV1J: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
DIS0KF9P: C3 glomerulonephritis
Disease Identifiers
MONDO ID
MONDO_0013892
UMLS CUI
C4055342
MedGen ID
884569
Orphanet ID
329931

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
C3 TTJGY7A Moderate Autosomal dominant [1]
CFH TTUW6OP Strong Genetic Variation [2]
CFI TT6ATLX Definitive Genetic Variation [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C3 OTCH5GS0 Moderate Autosomal dominant [1]
CFHR5 OT7BMOYE Strong Autosomal dominant [4]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 A novel mutation in complement 2 accompanied by susceptibility variants in C3 glomerulonephritis: A case study.Nefrologia (Engl Ed). 2019 Nov-Dec;39(6):664-671. doi: 10.1016/j.nefro.2019.01.008. Epub 2019 Apr 20.
3 C3 glomerulonephritis and thrombotic microangiopathy of renal allograft after pulmonary infection in a male with concomitant two complement factor I gene variations: a case report.BMC Nephrol. 2018 Jun 25;19(1):148. doi: 10.1186/s12882-018-0952-z.
4 Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat. 2010 Jun;31(6):E1445-60. doi: 10.1002/humu.21256.