MeSH Browser

MeSH Supplementary: Complement Factor H Deficiency
Unique ID: C562875
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C562875
Entry Term(s): C3G-1 Complement 3 Glomerulopathy 1; C3G1 C3 glomerulopathy 1; CFH Deficiency; Factor H Deficiency; Glomerulonephritis With Isolated C3 Deposits And Factor H Deficiency; MPGN II with Complement Factor H Deficiency; Membranoproliferative Glomerulonephritis, Type II, With Complement Factor H Deficiency
Registry Number: 0
Previous Indexing: *Kidney Diseases (2014-2022)
Heading Mapped to: *Hereditary Complement Deficiency Diseases; *Glomerulonephritis, Membranoproliferative; Complement Factor H / *deficiency
Frequency: 31
Note: Deficiencies in CFH can result in different phenotypes. Affected individuals may be asymptomatic, or be susceptible to recurrent BACTERIAL INFECTIONS, and KIDNEY DISEASES including RENAL FAILURE. Laboratory results usually show decreased serum levels of factor H, COMPLEMENT C3, and a decrease in other ALTERNATIVE COMPLEMENT PATHWAY components and activation. Shows phenotypic overlap with complement factor I deficiency (OMIM: 610984). Both dominant and recessive inheritance has been reported for CFH deficiency. May be associated with mutations in the HF1 gene. OMIM: 609814
Date of Entry: 2012/11/05
Revision Date: 2022/11/02

Complement Factor H Deficiency MeSH Supplementary Concept Data 2023