Complement factor h deficiency

Preferred Label : Complement factor h deficiency;

Symbol : CFHD;

CISMeF acronym : CFHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Factor h deficiency; Cfh deficiency; C3G1; C3 glomerulopathy 1;

Description : Complement factor H deficiency (CFHD) can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3 (120700), and a decrease in other alternative pathway components, indicating activation of the alternative complement pathway. Homozygotes and heterozygotes may show increased susceptibility to meningococcal infections. In addition, a number of renal diseases have been associated with factor H defect or deficiency, including atypical hemolytic-uremic syndrome (aHUS; 235400), membranoproliferative glomerulonephritis type II (MPGN II), and nonspecific hematuria or nephritis (Ault, 2000). See also complement factor I deficiency (610984), which shows phenotypic overlap with this disorder. Welch (2002) discussed the role of complement in renal disease. - Membranoproliferative Glomerulonephritis type II Abrera-Abeleda et al. (2006) summarized features of MPGN relevant to the complement cascade. MPGN type II, also known as dense deposit disease, causes chronic renal dysfunction that progresses to end-stage renal disease in about half of patients within 10 years of diagnosis. MPGN types I and III are variants of immune complex-mediated disease; MPGN II, in contrast, has no known association with immune complexes (Appel et al., 2005). MPGN II accounts for less than 20% of cases of MPGN in children and only a fractional percentage of cases in adults. Both sexes are affected equally, with the diagnosis usually made in children between the ages of 5 and 15 years who present with nonspecific findings such as hematuria, proteinuria, acute nephritic syndrome, or nephrotic syndrome. More than 80% of patients with MPGN II are positive for serum C3 nephritic factor (C3NeF), an autoantibody directed against C3bBb, the convertase of the alternative pathway of the complement cascade. C3NeF prolongs the half-life of C3 convertase. Patients with MPGN type II without C3NeF often have mutations in the CFH gene, which also results in prolonged activation of C3 convertase.;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the complement factor H gene (CFH, 134370.0002);

Laboratory abnormalities : Normal levels of complement factor H, but impaired function; Decreased serum complement factor H; Hypocomplementemia;

Prefixed ID : #609814;

Details

Origin ID

609814;

UMLS CUI

C0398777;

Automatic exact mappings (from CISMeF team)
- C3 glomerulopathy [ORDO Disease]
- Dense deposit disease [ORDO Disease]
- Factor H deficiency (disorder) [SNOMED CT concept]
- Factor X deficiency [PASCAL descriptor]
- factor v deficiency [MeSH Descriptor]
- factor x deficiency [MeSH Descriptor]
- hypoprothrombinemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Immunodeficiency with factor H anomaly [ICD-11 More detail]
- Immunodeficiency with factor H anomaly [ORDO Disease]
- complement factor H deficiency [MeSH concept]
- complement factor H deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Complement factor h [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic kidney disease [HPO term]
- Decreased serum complement factor H [HPO term]
- Depletion of components of the alternative complement pathway [HPO term]
- Glomerular subendothelial electron-dense deposits [HPO term]
- Hematuria [HPO term]
- Increased susceptibility to certain bacterial infections [HPO term]
- Juvenile onset [HPO term]
- Progressive renal insufficiency [HPO term]
- Recurrent bacterial infections [HPO term]
- Thickened glomerular basement membrane [HPO term]
Matching ORDO disease(s)
- Atypical hemolytic uremic syndrome with H factor anomaly [ORDO Disease]
ORDO concept(s)
- Atypical hemolytic uremic syndrome [ORDO Disease]
- Atypical hemolytic uremic syndrome with complement gene abnormality [ORDO Disease]
- C3 glomerulopathy [ORDO Disease]
- Dense deposit disease [ORDO Disease]
- Immunodeficiency with factor H anomaly [ORDO Disease]
- Primary membranoproliferative glomerulonephritis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Factor H deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency with factor H anomaly [ORDO Disease]
- Immunodeficiency with factor H anomaly [ICD-11 More detail]
- complement factor H deficiency [MeSH Supplementary Concept]
- complement factor H deficiency [MeSH concept]

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