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Complement Factor H Deficiency MeSH Supplementary Concept Data 2025


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 Numbers
0
Previous Indexing
*Kidney Diseases (2014-2022)
Heading Mapped to
*Glomerulonephritis, Membranoproliferative
Complement Factor H / deficiency
*Hereditary Complement Deficiency Diseases
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 Preferred
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