MCID: CMP042
MIFTS: 39

Complement Factor H Deficiency

Categories: Genetic diseases, Nephrological diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Complement Factor H Deficiency

MalaCards integrated aliases for Complement Factor H Deficiency:

Name: Complement Factor H Deficiency 57 75 13 73
Factor H Deficiency 57 75 29 6
Cfh Deficiency 57 75
Cfhd 57 75
Membranoproliferative Glomerulonephritis, Type Ii 73
Membranoproliferative Glomerulonephritis Type 2 59
Immunodeficiency with Factor H Anomaly 59
Deficiency, Complement Factor H 40
Dense Deposit Disease 59

Characteristics:

Orphanet epidemiological data:

59
dense deposit disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
onset in infancy or childhood
some patients may be asymptomatic


HPO:

32
complement factor h deficiency:
Onset and clinical course phenotypic variability juvenile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609814
UMLS via Orphanet 74 C0398777 C0268743
ICD10 via Orphanet 34 D84.1 N04.6
MESH via Orphanet 45 D015432
MeSH 44 D007154

Summaries for Complement Factor H Deficiency

OMIM : 57 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. (609814)

MalaCards based summary : Complement Factor H Deficiency, also known as factor h deficiency, is related to hemolytic uremic syndrome, atypical 1 and glomerulonephritis. An important gene associated with Complement Factor H Deficiency is CFH (Complement Factor H), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement Pathway. Affiliated tissues include kidney and liver, and related phenotypes are hematuria and recurrent bacterial infections

UniProtKB/Swiss-Prot : 75 Complement factor H deficiency: A disorder that 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, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome.

Related Diseases for Complement Factor H Deficiency

Graphical network of the top 20 diseases related to Complement Factor H Deficiency:



Diseases related to Complement Factor H Deficiency

Symptoms & Phenotypes for Complement Factor H Deficiency

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
hematuria
progressive renal failure
membranoproliferative glomerulonephritis type ii
thickening of the glomerular basement membrane on renal biopsy
deposition of complement component c3 in glomerular basement membrane

Laboratory Abnormalities:
hypocomplementemia
decreased serum complement factor h
normal levels of complement factor h, but impaired function

Immunology:
continuous activation of the alternative complement pathway
hypocomplementemia
depletion of components of the alternative complement pathway
increased susceptibility to certain bacterial infections, especially neisseria meningitidis


Clinical features from OMIM:

609814

Human phenotypes related to Complement Factor H Deficiency:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hematuria 32 HP:0000790
2 recurrent bacterial infections 32 HP:0002718
3 thickening of the glomerular basement membrane 32 HP:0004722
4 glomerular subendothelial electron-dense deposits 32 HP:0004746
5 decreased serum complement factor h 32 HP:0005369
6 depletion of components of the alternative complement pathway 32 HP:0005389
7 chronic kidney disease 32 HP:0012622

Drugs & Therapeutics for Complement Factor H Deficiency

Search Clinical Trials , NIH Clinical Center for Complement Factor H Deficiency

Genetic Tests for Complement Factor H Deficiency

Genetic tests related to Complement Factor H Deficiency:

# Genetic test Affiliating Genes
1 Factor H Deficiency 29 CFH

Anatomical Context for Complement Factor H Deficiency

MalaCards organs/tissues related to Complement Factor H Deficiency:

41
Kidney, Liver

Publications for Complement Factor H Deficiency

Articles related to Complement Factor H Deficiency:

(show all 18)
# Title Authors Year
1
Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation. ( 29215813 )
2018
2
Partial Complement Factor H Deficiency Associates with C3 Glomerulopathy and Thrombotic Microangiopathy. ( 26374608 )
2015
3
Anesthetic management of living donor liver transplantation for complement factor H deficiency hemolytic uremic syndrome: a case report. ( 25006375 )
2014
4
Genotype/phenotype correlations in complement factor h deficiency arising from uniparental isodisomy. ( 23870792 )
2013
5
The C5a receptor has a key role in immune complex glomerulonephritis in complement factor H-deficient mice. ( 22832515 )
2012
6
Complement factor H deficiency results in decreased neuroretinal expression of Cd59a in aged mice. ( 22918646 )
2012
7
Complement factor H deficiency accelerates development of lupus nephritis. ( 21148254 )
2011
8
Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation. ( 21270828 )
2011
9
A case of dense deposit disease associated with a group A streptococcal infection without the involvement of C3NeF or complement factor H deficiency. ( 20221776 )
2010
10
Abnormal immune complex processing and spontaneous glomerulonephritis in complement factor H-deficient mice with human complement receptor 1 on erythrocytes. ( 20702729 )
2010
11
Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits. ( 18371543 )
2008
12
Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction. ( 17921253 )
2007
13
Complement factor H deficiency in acute allograft glomerulopathy and post-transplant hemolytic uremic syndrome. ( 14974950 )
2004
14
Familial hemolytic uremic syndrome associated with complement factor H deficiency. ( 11241053 )
2001
15
Hemolytic-uremic syndrome and complement factor H deficiency: clinical aspects. ( 11446651 )
2001
16
Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency. ( 10206995 )
1999
17
Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency. ( 10344366 )
1999
18
Human complement factor H deficiency associated with hemolytic uremic syndrome. ( 9848786 )
1998

Variations for Complement Factor H Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Complement Factor H Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 CFH p.Cys536Arg VAR_019405
2 CFH p.Cys959Tyr VAR_019406
3 CFH p.Gln1076Glu VAR_025873
4 CFH p.Asp1119Gly VAR_025874
5 CFH p.Thr1184Arg VAR_025881
6 CFH p.Arg1210Cys VAR_025885
7 CFH p.Arg1215Gln VAR_025887
8 CFH p.Arg127Leu VAR_031978
9 CFH p.Cys431Ser VAR_031981
10 CFH p.Cys673Ser VAR_031982

ClinVar genetic disease variations for Complement Factor H Deficiency:

6
(show top 50) (show all 196)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFH NM_000186.3(CFH): c.1606T> C (p.Cys536Arg) single nucleotide variant Pathogenic rs121913052 GRCh37 Chromosome 1, 196684809: 196684809
2 CFH NM_000186.3(CFH): c.1606T> C (p.Cys536Arg) single nucleotide variant Pathogenic rs121913052 GRCh38 Chromosome 1, 196715679: 196715679
3 CFH NM_000186.3(CFH): c.2876G> A (p.Cys959Tyr) single nucleotide variant Pathogenic rs121913053 GRCh37 Chromosome 1, 196709842: 196709842
4 CFH NM_000186.3(CFH): c.2876G> A (p.Cys959Tyr) single nucleotide variant Pathogenic rs121913053 GRCh38 Chromosome 1, 196740712: 196740712
5 CFH NM_000186.3(CFH): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs121913054 GRCh37 Chromosome 1, 196646743: 196646743
6 CFH NM_000186.3(CFH): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs121913054 GRCh38 Chromosome 1, 196677613: 196677613
7 CFH NM_000186.3(CFH): c.1291T> A (p.Cys431Ser) single nucleotide variant Pathogenic rs121913056 GRCh37 Chromosome 1, 196659324: 196659324
8 CFH NM_000186.3(CFH): c.1291T> A (p.Cys431Ser) single nucleotide variant Pathogenic rs121913056 GRCh38 Chromosome 1, 196690194: 196690194
9 CFH NM_000186.3(CFH): c.380G> T (p.Arg127Leu) single nucleotide variant Pathogenic rs121913058 GRCh37 Chromosome 1, 196645148: 196645148
10 CFH NM_000186.3(CFH): c.380G> T (p.Arg127Leu) single nucleotide variant Pathogenic rs121913058 GRCh38 Chromosome 1, 196676018: 196676018
11 CFH NM_000186.3(CFH): c.671_673delAGA (p.Lys224del) deletion Pathogenic rs796052138 GRCh37 Chromosome 1, 196648804: 196648806
12 CFH NM_000186.3(CFH): c.671_673delAGA (p.Lys224del) deletion Pathogenic rs796052138 GRCh38 Chromosome 1, 196679674: 196679676
13 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh37 Chromosome 1, 196716375: 196716375
14 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh38 Chromosome 1, 196747245: 196747245
15 CFHR5 NM_030787.3(CFHR5): c.622T> C (p.Cys208Arg) single nucleotide variant Uncertain significance rs41299613 GRCh37 Chromosome 1, 196964861: 196964861
16 CFHR5 NM_030787.3(CFHR5): c.622T> C (p.Cys208Arg) single nucleotide variant Uncertain significance rs41299613 GRCh38 Chromosome 1, 196995731: 196995731
17 CFH NM_000186.3(CFH): c.3176T> C (p.Ile1059Thr) single nucleotide variant Benign/Likely benign rs35343172 GRCh37 Chromosome 1, 196712624: 196712624
18 CFH NM_000186.3(CFH): c.3176T> C (p.Ile1059Thr) single nucleotide variant Benign/Likely benign rs35343172 GRCh38 Chromosome 1, 196743494: 196743494
19 CFH NM_000186.3(CFH): c.-195T> C single nucleotide variant Benign rs35836460 GRCh38 Chromosome 1, 196651923: 196651923
20 CFH NM_000186.3(CFH): c.-195T> C single nucleotide variant Benign rs35836460 GRCh37 Chromosome 1, 196621053: 196621053
21 CFH NM_000186.3(CFH): c.-61A> G single nucleotide variant Uncertain significance rs886045741 GRCh38 Chromosome 1, 196652057: 196652057
22 CFH NM_000186.3(CFH): c.-61A> G single nucleotide variant Uncertain significance rs886045741 GRCh37 Chromosome 1, 196621187: 196621187
23 CFH NM_000186.3(CFH): c.428-3C> T single nucleotide variant Uncertain significance rs886045744 GRCh38 Chromosome 1, 196677473: 196677473
24 CFH NM_000186.3(CFH): c.428-3C> T single nucleotide variant Uncertain significance rs886045744 GRCh37 Chromosome 1, 196646603: 196646603
25 CFH NM_000186.3(CFH): c.1949G> T (p.Gly650Val) single nucleotide variant Likely benign rs143237092 GRCh37 Chromosome 1, 196695675: 196695675
26 CFH NM_000186.3(CFH): c.1949G> T (p.Gly650Val) single nucleotide variant Likely benign rs143237092 GRCh38 Chromosome 1, 196726545: 196726545
27 CFH NM_000186.3(CFH): c.2016A> G (p.Gln672=) single nucleotide variant Benign rs3753396 GRCh37 Chromosome 1, 196695742: 196695742
28 CFH NM_000186.3(CFH): c.2016A> G (p.Gln672=) single nucleotide variant Benign rs3753396 GRCh38 Chromosome 1, 196726612: 196726612
29 CFH NM_000186.3(CFH): c.2236+8T> A single nucleotide variant Likely benign rs7537967 GRCh37 Chromosome 1, 196696078: 196696078
30 CFH NM_000186.3(CFH): c.2236+8T> A single nucleotide variant Likely benign rs7537967 GRCh38 Chromosome 1, 196726948: 196726948
31 CFH NM_000186.3(CFH): c.2808G> T (p.Glu936Asp) single nucleotide variant Benign rs1065489 GRCh37 Chromosome 1, 196709774: 196709774
32 CFH NM_000186.3(CFH): c.2808G> T (p.Glu936Asp) single nucleotide variant Benign rs1065489 GRCh38 Chromosome 1, 196740644: 196740644
33 CFH NM_000186.3(CFH): c.-175T> C single nucleotide variant Uncertain significance rs762143457 GRCh38 Chromosome 1, 196651943: 196651943
34 CFH NM_000186.3(CFH): c.-175T> C single nucleotide variant Uncertain significance rs762143457 GRCh37 Chromosome 1, 196621073: 196621073
35 CFH NM_000186.3(CFH): c.3050C> T (p.Thr1017Ile) single nucleotide variant Likely benign rs34362004 GRCh37 Chromosome 1, 196711098: 196711098
36 CFH NM_000186.3(CFH): c.3050C> T (p.Thr1017Ile) single nucleotide variant Likely benign rs34362004 GRCh38 Chromosome 1, 196741968: 196741968
37 CFH NM_000186.3(CFH): c.3133+8G> T single nucleotide variant Likely benign rs142718541 GRCh38 Chromosome 1, 196742059: 196742059
38 CFH NM_000186.3(CFH): c.3133+8G> T single nucleotide variant Likely benign rs142718541 GRCh37 Chromosome 1, 196711189: 196711189
39 CFH NM_000186.3(CFH): c.-79A> G single nucleotide variant Likely benign rs35906110 GRCh38 Chromosome 1, 196652039: 196652039
40 CFH NM_000186.3(CFH): c.-79A> G single nucleotide variant Likely benign rs35906110 GRCh37 Chromosome 1, 196621169: 196621169
41 CFH NM_000186.3(CFH): c.-36G> C single nucleotide variant Likely benign rs140356702 GRCh38 Chromosome 1, 196652082: 196652082
42 CFH NM_000186.3(CFH): c.-36G> C single nucleotide variant Likely benign rs140356702 GRCh37 Chromosome 1, 196621212: 196621212
43 CFH NM_000186.3(CFH): c.275C> T (p.Pro92Leu) single nucleotide variant Uncertain significance rs886045743 GRCh38 Chromosome 1, 196673887: 196673887
44 CFH NM_000186.3(CFH): c.275C> T (p.Pro92Leu) single nucleotide variant Uncertain significance rs886045743 GRCh37 Chromosome 1, 196643017: 196643017
45 CFH NM_000186.3(CFH): c.285T> C (p.Thr95=) single nucleotide variant Uncertain significance rs148182625 GRCh38 Chromosome 1, 196673897: 196673897
46 CFH NM_000186.3(CFH): c.285T> C (p.Thr95=) single nucleotide variant Uncertain significance rs148182625 GRCh37 Chromosome 1, 196643027: 196643027
47 CFH NM_000186.3(CFH): c.1160-15T> C single nucleotide variant Benign rs34815383 GRCh38 Chromosome 1, 196690048: 196690048
48 CFH NM_000186.3(CFH): c.1160-15T> C single nucleotide variant Benign rs34815383 GRCh37 Chromosome 1, 196659178: 196659178
49 CFH NM_000186.3(CFH): c.3207T> C (p.Ser1069=) single nucleotide variant Likely benign rs62641697 GRCh38 Chromosome 1, 196743525: 196743525
50 CFH NM_000186.3(CFH): c.3207T> C (p.Ser1069=) single nucleotide variant Likely benign rs62641697 GRCh37 Chromosome 1, 196712655: 196712655

Expression for Complement Factor H Deficiency

Search GEO for disease gene expression data for Complement Factor H Deficiency.

Pathways for Complement Factor H Deficiency

GO Terms for Complement Factor H Deficiency

Cellular components related to Complement Factor H Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.96 CFH CFHR1
2 extracellular exosome GO:0070062 8.92 CD46 CFH CFHR1 CFI

Biological processes related to Complement Factor H Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 complement activation, classical pathway GO:0006958 9.26 CD46 CFI
2 complement activation GO:0006956 9.16 CFH CFHR1
3 innate immune response GO:0045087 9.13 CD46 CFH CFI
4 regulation of complement activation GO:0030449 8.92 CD46 CFH CFHR1 CFI

Sources for Complement Factor H Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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