CFHD
MCID: CMP042
MIFTS: 47

Complement Factor H Deficiency (CFHD)

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

Aliases & Classifications for Complement Factor H Deficiency

MalaCards integrated aliases for Complement Factor H Deficiency:

Name: Complement Factor H Deficiency 57 74 13 72
Factor H Deficiency 57 74 29 6
Cfh Deficiency 57 74
Cfhd 57 74
Membranoproliferative Glomerulonephritis, Type Ii 72
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:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 57 609814
MeSH 44 D007154
MESH via Orphanet 45 D015432
ICD10 via Orphanet 34 D84.1 N04.6
UMLS via Orphanet 73 C0268743 C0398777
UMLS 72 C0268743 C0398777

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 c3 glomerulopathy and dense deposit disease. 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. The drugs Immunoglobulin A and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and endothelial, and related phenotypes are hematuria and recurrent bacterial infections

UniProtKB/Swiss-Prot : 74 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

Diseases related to Complement Factor H Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 c3 glomerulopathy 29.9 CFHR5 CFHR1
2 dense deposit disease 29.8 CFHR5 CFH
3 membranoproliferative glomerulonephritis 29.0 CFHR5 CFH CD46
4 hemolytic anemia 28.7 CFI CFH
5 glomerulonephritis 28.5 CFI CFHR5 CFH CD46
6 hemolytic-uremic syndrome 27.9 CFI CFHR5 CFHR1 CFH CD46
7 hemolytic uremic syndrome, atypical 1 27.9 CFI CFHR5 CFHR1 CFH CD46
8 enterocolitis 27.2 CFI CFHR5 CFHR1 CFH CD46
9 macular degeneration, age-related, 1 27.2 CFI CFHR5 CFHR1 CFH CD46
10 complement factor i deficiency 11.4
11 glomerulopathy with fibronectin deposits 2 10.5
12 fibrillary glomerulonephritis 10.5
13 immunotactoid glomerulopathy 10.5
14 immunotactoid or fibrillary glomerulopathy 10.5
15 nephrotic syndrome 10.5
16 proliferative glomerulonephritis 10.1
17 end stage renal failure 10.1
18 thrombotic microangiopathy 10.1
19 crescentic glomerulonephritis 10.1
20 genetic atypical hemolytic-uremic syndrome 10.0
21 myeloma, multiple 10.0
22 membranous nephropathy 10.0
23 acute poststreptococcal glomerulonephritis 10.0
24 monoclonal gammopathy of uncertain significance 10.0
25 glomerular disease 10.0
26 systemic lupus erythematosus 9.9
27 yemenite deaf-blind hypopigmentation syndrome 9.9
28 cfhr5 deficiency 9.9
29 mesangial proliferative glomerulonephritis 9.9
30 immune-complex glomerulonephritis 9.9
31 kidney disease 9.9
32 retinal disease 9.9
33 complement deficiency 9.9
34 lupus erythematosus 9.9
35 streptococcal group a invasive disease 9.9
36 breast cancer 9.9
37 diabetes and deafness, maternally inherited 9.9
38 mycobacterium tuberculosis 1 9.9
39 acute kidney tubular necrosis 9.9
40 focal segmental glomerulosclerosis 9.9
41 acute proliferative glomerulonephritis 9.9
42 mycoplasma pneumoniae pneumonia 9.9
43 pyuria 9.9
44 retinal drusen 9.9
45 diffuse glomerulonephritis 9.9
46 vasculitis 9.9
47 amyloidosis 9.9
48 diabetes mellitus 9.9
49 thrombocytopenia 9.9
50 de novo thrombotic microangiopathy after kidney transplantation 9.8 CFI CFH

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

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 chronic kidney disease 32 HP:0012622
4 glomerular subendothelial electron-dense deposits 32 HP:0004746
5 thickening of the glomerular basement membrane 32 HP:0004722
6 decreased serum complement factor h 32 HP:0005369
7 depletion of components of the alternative complement pathway 32 HP:0005389

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

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

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

Clinical features from OMIM:

609814

Drugs & Therapeutics for Complement Factor H Deficiency

Drugs for Complement Factor H Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulin A Phase 2
2
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
3 Angiotensin-Converting Enzyme Inhibitors Phase 1
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Study to Evaluate the Safety and Effect on Proteinuria of OMS721 in Subjects With IgA Nephropathy, Lupus Nephritis, Membranous Nephropathy, or C3 Glomerulopathy Including Dense Deposit Disease Recruiting NCT02682407 Phase 2
2 A Phase 2 Study to Evaluate the Safety and Biologic Activity of APL- 2 in Patients With IgA Nephropathy, Lupus Nephritis, Primary Membranous Nephropathy, or C3 Glomerulopathy (C3 Glomerulonephritis and Dense Deposit Disease) Recruiting NCT03453619 Phase 2 APL-2
3 A Randomized, Double Blind, Placebo Controlled Phase 2 Study to Evaluate the Safety and Efficacy of Avacopan (CCX168) in Patients With C3 Glomerulopathy Recruiting NCT03301467 Phase 2 Avacopan;Avacopan Matching Placebo
4 A Phase 2, Proof-of-Concept, Randomized, Double-Blinded, Placebo-Controlled Study of ACH-0144471 Treatment for 6 Months in Patients With C3 Glomerulopathy (C3G) Active, not recruiting NCT03369236 Phase 2 ACH-0144471;Placebo
5 An Open-label, Non-randomized Extension Study to Evaluate the Long-term Efficacy, Safety and Tolerability of LNP023 in Subjects With C3 Glomerulopathy Not yet recruiting NCT03955445 Phase 2 LNP023
6 Eculizumab Therapy for Dense Deposit Disease and C3 Nephropathy Completed NCT01221181 Phase 1 Eculizumab
7 A Pilot, Open-label, Multicenter Clinical Trial of CDX-1135 in Pediatric and Adult Patients With Dense Deposit Disease Terminated NCT01791686 Phase 1 CDX-1135
8 Sulodexide Treatment in Patients With Dense Deposit Disease Withdrawn NCT00583427 Phase 1 Sulodexide
9 A Pilot, Open-Label Single Center Trial of TP10 in Pediatric and Adult Patients With C3 Glomerulopathy (C3G) Withdrawn NCT02302755 Phase 1 TP10

Search 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, Endothelial

Publications for Complement Factor H Deficiency

Articles related to Complement Factor H Deficiency:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Factor H and the pathogenesis of renal diseases. 38 8 71
10975323 2000
2
Inherited factor H deficiency and collagen type III glomerulopathy. 38 8 71
7742208 1995
3
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 8 71
17018561 2007
4
Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). 8 71
16612335 2006
5
Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. 8 71
14978182 2004
6
Molecular basis for factor H and FHL-1 deficiency in an Italian family. 8 71
10803850 2000
7
Combined homozygous factor H and heterozygous C2 deficiency in an Italian family. 8 71
2966809 1988
8
H deficiency in two brothers with atypical dense intramembranous deposit disease. 8 71
2950269 1986
9
Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. 38 8
12091909 2002
10
Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency. 38 71
10206995 1999
11
Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. 38 8
9312129 1997
12
Heterozygous and homozygous factor H deficiency states in a Dutch family. 38 8
8809142 1996
13
Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency. 38 8
7883953 1995
14
Hereditary, complete deficiency of complement factor H associated with recurrent meningococcal disease. 38 8
2532396 1989
15
Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration. 71
25880396 2015
16
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. 71
24036949 2013
17
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. 71
22019782 2011
18
C3 Glomerulopathy 71
20301598 2007
19
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). 8
16299065 2006
20
Membranoproliferative glomerulonephritis type II (dense deposit disease): an update. 8
15800116 2005
21
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. 71
12697737 2003
22
The molecular basis for hereditary porcine membranoproliferative glomerulonephritis type II: point mutations in the factor H coding sequence block protein secretion. 8
12466119 2002
23
Complement in glomerulonephritis. 8
12091912 2002
24
Partial H (beta 1H) deficiency and glomerulonephritis in two families. 8
6461667 1982
25
Atypical hemolytic uremic syndrome: An unusual postoperative complication. 38
29426622 2018
26
Complement factor H protects mice from ischemic acute kidney injury but is not critical for controlling complement activation by glomerular IgM. 38
29389016 2018
27
Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation. 38
29215813 2018
28
Long-term successful liver-kidney transplantation in a child with atypical hemolytic uremic syndrome caused by homozygous factor H deficiency. 38
27744619 2016
29
Distinct roles for the complement regulators factor H and Crry in protection of the kidney from injury. 38
27165610 2016
30
Partial Complement Factor H Deficiency Associates with C3 Glomerulopathy and Thrombotic Microangiopathy. 38
26374608 2016
31
Complement receptor 3 mediates renal protection in experimental C3 glomerulopathy. 38
26924054 2016
32
Novel factor H mutation associated with familial membranoproliferative glomerulonephritis type I. 38
26289290 2015
33
Eculizumab in neonatal hemolytic uremic syndrome with homozygous factor H deficiency. 38
25149852 2014
34
ADAMTS-13 in the Diagnosis and Management of Thrombotic Microangiopathies. 38
25386342 2014
35
Anesthetic management of living donor liver transplantation for complement factor H deficiency hemolytic uremic syndrome: a case report. 38
25006375 2014
36
A novel use of intravenous immunoglobulin is not restricted to complement hypercatabolism because of factor H deficiency. 38
24919726 2014
37
C3 dysregulation due to factor H deficiency is mannan-binding lectin-associated serine proteases (MASP)-1 and MASP-3 independent in vivo. 38
24279761 2014
38
A rare case: childhood-onset C3 glomerulonephritis due to homozygous factor H deficiency. 38
28509298 2013
39
Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy. 38
23870792 2013
40
Combined paediatric liver-kidney transplantation: analysis of our experience and literature review. 38
24300631 2013
41
Loss of properdin exacerbates C3 glomerulopathy resulting from factor H deficiency. 38
23184055 2013
42
Complement factor H functional assay may help to monitor atypical haemolytic uraemic syndrome: a pilot study. 38
23627188 2013
43
Complement factor H deficiency results in decreased neuroretinal expression of Cd59a in aged mice. 38
22918646 2012
44
Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation. 38
22420623 2012
45
Rescue therapy with eculizumab in a transplant recipient with atypical haemolytic-uraemic syndrome. 38
26069742 2012
46
Eculizumab in atypical haemolytic-uraemic syndrome allows cessation of plasma exchange and dialysis. 38
26069744 2012
47
Idiopathic combined, autoantibody-mediated ADAMTS-13/factor H deficiency in thrombotic thrombocytopenic purpura-hemolytic uremic syndrome in a 17-year-old woman: a case report. 38
22206706 2011
48
Heterogeneous pattern of renal disease associated with homozygous factor H deficiency. 38
21396679 2011
49
Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation. 38
21270828 2011
50
Complement factor H deficiency accelerates development of lupus nephritis. 38
21148254 2011

Variations for Complement Factor H Deficiency

ClinVar genetic disease variations for Complement Factor H Deficiency:

6 (show top 50) (show all 101)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CFH NM_000186.3(CFH): c.1606T> C (p.Cys536Arg) single nucleotide variant Pathogenic rs121913052 1:196684809-196684809 1:196715679-196715679
2 CFH NM_000186.3(CFH): c.2876G> A (p.Cys959Tyr) single nucleotide variant Pathogenic rs121913053 1:196709842-196709842 1:196740712-196740712
3 CFH NM_000186.3(CFH): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs121913054 1:196646743-196646743 1:196677613-196677613
4 CFH NM_000186.3(CFH): c.1291T> A (p.Cys431Ser) single nucleotide variant Pathogenic rs121913056 1:196659324-196659324 1:196690194-196690194
5 CFH NM_000186.3(CFH): c.380G> T (p.Arg127Leu) single nucleotide variant Pathogenic rs121913058 1:196645148-196645148 1:196676018-196676018
6 CFH NM_000186.3(CFH): c.668_670AGA[1] (p.Lys224del) short repeat Pathogenic rs796052138 1:196648804-196648806 1:196679674-196679676
7 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic rs121913059 1:196716375-196716375 1:196747245-196747245
8 CFHR5 NM_030787.3(CFHR5): c.622T> C (p.Cys208Arg) single nucleotide variant Uncertain significance rs41299613 1:196964861-196964861 1:196995731-196995731
9 CFH NM_000186.3(CFH): c.-61A> G single nucleotide variant Uncertain significance rs886045741 1:196621187-196621187 1:196652057-196652057
10 CFH NM_000186.3(CFH): c.428-3C> T single nucleotide variant Uncertain significance rs886045744 1:196646603-196646603 1:196677473-196677473
11 CFH NM_000186.3(CFH): c.-175T> C single nucleotide variant Uncertain significance rs762143457 1:196621073-196621073 1:196651943-196651943
12 CFH NM_000186.3(CFH): c.275C> T (p.Pro92Leu) single nucleotide variant Uncertain significance rs886045743 1:196643017-196643017 1:196673887-196673887
13 CFH NM_000186.3(CFH): c.285T> C (p.Thr95=) single nucleotide variant Uncertain significance rs148182625 1:196643027-196643027 1:196673897-196673897
14 CFH NM_000186.3(CFH): c.3310+12T> C single nucleotide variant Uncertain significance rs757045842 1:196712770-196712770 1:196743640-196743640
15 CFH NM_000186.3(CFH): c.2542G> A (p.Gly848Arg) single nucleotide variant Uncertain significance rs886045746 1:196706082-196706082 1:196736952-196736952
16 CFH NM_000186.3(CFH): c.2784C> A (p.Gly928=) single nucleotide variant Uncertain significance rs755926856 1:196709750-196709750 1:196740620-196740620
17 CFH NM_000186.3(CFH): c.*14G> A single nucleotide variant Uncertain significance rs463726 1:196716457-196716457 1:196747327-196747327
18 CFHR5 NM_030787.3(CFHR5): c.-76_-75del deletion Uncertain significance rs551454946 1:196946719-196946720 1:196977589-196977590
19 CFH NM_000186.3(CFH): c.3134-7T> C single nucleotide variant Uncertain significance rs779166622 1:196712575-196712575 1:196743445-196743445
20 CFHR5 NM_030787.3(CFHR5): c.429T> C (p.Thr143=) single nucleotide variant Uncertain significance rs140215003 1:196953266-196953266 1:196984136-196984136
21 CFHR5 NM_030787.3(CFHR5): c.1350G> A (p.Gly450=) single nucleotide variant Uncertain significance rs77159278 1:196973810-196973810 1:197004680-197004680
22 CFHR5 NM_030787.3(CFHR5): c.*619G> A single nucleotide variant Uncertain significance rs550863021 1:196978432-196978432 1:197009302-197009302
23 CFHR5 NM_030787.3(CFHR5): c.608-3T> A single nucleotide variant Uncertain significance rs375481393 1:196964844-196964844 1:196995714-196995714
24 CFHR5 NM_030787.3(CFHR5): c.880G> A (p.Glu294Lys) single nucleotide variant Uncertain significance rs201084185 1:196965241-196965241 1:196996111-196996111
25 CFHR5 NM_030787.3(CFHR5): c.1586T> G (p.Leu529Arg) single nucleotide variant Uncertain significance rs16840956 1:196977689-196977689 1:197008559-197008559
26 CFHR5 NM_030787.3(CFHR5): c.1641G> A (p.Ala547=) single nucleotide variant Uncertain significance rs74323799 1:196977744-196977744 1:197008614-197008614
27 CFHR5 NM_030787.3(CFHR5): c.*324T> C single nucleotide variant Uncertain significance rs886045753 1:196978137-196978137 1:197009007-197009007
28 CFHR5 NM_030787.3(CFHR5): c.*745C> A single nucleotide variant Uncertain significance rs886045756 1:196978558-196978558 1:197009428-197009428
29 CFH NM_000186.3(CFH): c.103G> A (p.Gly35Ser) single nucleotide variant Uncertain significance rs886045742 1:196642152-196642152 1:196673022-196673022
30 CFH NM_000186.3(CFH): c.3004G> C (p.Gly1002Arg) single nucleotide variant Uncertain significance rs201816520 1:196711052-196711052 1:196741922-196741922
31 CFHR5 NM_030787.3(CFHR5): c.384G> T (p.Ser128=) single nucleotide variant Uncertain significance rs147791058 1:196953221-196953221 1:196984091-196984091
32 CFHR5 NM_030787.3(CFHR5): c.647A> T (p.Asn216Ile) single nucleotide variant Uncertain significance rs147488267 1:196964886-196964886 1:196995756-196995756
33 CFHR5 NM_030787.3(CFHR5): c.741G> T (p.Lys247Asn) single nucleotide variant Uncertain significance rs886045750 1:196964980-196964980 1:196995850-196995850
34 CFHR5 NM_030787.3(CFHR5): c.1560G> A (p.Gln520=) single nucleotide variant Uncertain significance rs202093724 1:196977663-196977663 1:197008533-197008533
35 CFHR5 NM_030787.3(CFHR5): c.*502C> T single nucleotide variant Uncertain significance rs561492578 1:196978315-196978315 1:197009185-197009185
36 CFHR5 NM_030787.3(CFHR5): c.*866G> A single nucleotide variant Uncertain significance rs534182452 1:196978679-196978679 1:197009549-197009549
37 CFHR5 NM_030787.3(CFHR5): c.51G> A (p.Gly17=) single nucleotide variant Uncertain significance rs886045748 1:196946845-196946845 1:196977715-196977715
38 CFHR5 NM_030787.3(CFHR5): c.120C> A (p.Asn40Lys) single nucleotide variant Uncertain significance rs200176406 1:196952076-196952076 1:196982946-196982946
39 CFH NM_000186.3(CFH): c.2215A> G (p.Thr739Ala) single nucleotide variant Uncertain significance rs886045745 1:196696049-196696049 1:196726919-196726919
40 CFHR5 NM_030787.3(CFHR5): c.329T> C (p.Val110Ala) single nucleotide variant Uncertain significance rs140691305 1:196953166-196953166 1:196984036-196984036
41 CFHR5 NM_030787.3(CFHR5): c.647A> G (p.Asn216Ser) single nucleotide variant Uncertain significance rs147488267 1:196964886-196964886 1:196995756-196995756
42 CFHR5 NM_030787.3(CFHR5): c.903T> C (p.Tyr301=) single nucleotide variant Uncertain significance rs886045751 1:196965264-196965264 1:196996134-196996134
43 CFHR5 NM_030787.3(CFHR5): c.*237T> C single nucleotide variant Uncertain significance rs886045752 1:196978050-196978050 1:197008920-197008920
44 CFHR5 NM_030787.3(CFHR5): c.*362A> G single nucleotide variant Uncertain significance rs886045754 1:196978175-196978175 1:197009045-197009045
45 CFHR5 NM_030787.3(CFHR5): c.*416_*417GA[5] short repeat Uncertain significance rs886045755 1:196978239-196978240 1:197009109-197009110
46 CFHR5 NM_030787.3(CFHR5): c.*741T> G single nucleotide variant Uncertain significance rs117389812 1:196978554-196978554 1:197009424-197009424
47 CFHR5 NM_030787.3(CFHR5): c.*966G> A single nucleotide variant Uncertain significance rs886045757 1:196978779-196978779 1:197009649-197009649
48 CFH NM_000186.3(CFH): c.481G> T (p.Ala161Ser) single nucleotide variant Uncertain significance 1:196646659-196646659 1:196677529-196677529
49 CFH NM_000186.3(CFH): c.2461C> T (p.His821Tyr) single nucleotide variant Uncertain significance 1:196706001-196706001 1:196736871-196736871
50 CFH NM_000186.3(CFH): c.2637A> G (p.Gly879=) single nucleotide variant Likely benign rs55752475 1:196706645-196706645 1:196737515-196737515

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

74
# Symbol AA change Variation ID SNP ID
1 CFH p.Cys536Arg VAR_019405 rs121913052
2 CFH p.Cys959Tyr VAR_019406 rs121913053
3 CFH p.Gln1076Glu VAR_025873 rs62625015
4 CFH p.Asp1119Gly VAR_025874 rs575109631
5 CFH p.Thr1184Arg VAR_025881
6 CFH p.Arg1210Cys VAR_025885 rs121913059
7 CFH p.Arg1215Gln VAR_025887
8 CFH p.Arg127Leu VAR_031978 rs121913058
9 CFH p.Cys431Ser VAR_031981 rs121913056
10 CFH p.Cys673Ser VAR_031982

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 extracellular region GO:0005576 9.26 CFI CFHR5 CFHR1 CFH
2 blood microparticle GO:0072562 8.62 CFHR1 CFH

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.43 CFI CFH CD46
2 complement activation, classical pathway GO:0006958 9.4 CFI CD46
3 complement activation GO:0006956 9.37 CFHR1 CFH
4 negative regulation of protein binding GO:0032091 9.32 CFHR5 CFHR1
5 complement activation, alternative pathway GO:0006957 9.16 CFHR5 CFH
6 regulation of complement activation GO:0030449 9.02 CFI CFHR5 CFHR1 CFH CD46
7 positive regulation of cytolysis GO:0045919 8.96 CFHR5 CFHR1

Sources for Complement Factor H Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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