CFID
MCID: CMP004
MIFTS: 41

Complement Factor I Deficiency (CFID)

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

Aliases & Classifications for Complement Factor I Deficiency

MalaCards integrated aliases for Complement Factor I Deficiency:

Name: Complement Factor I Deficiency 57 12 43 72 13 44 15
Complement Component 3 Inactivator Deficiency 57 12 43
Hereditary Factor I Deficiency Disease 43 29 70
C3 Inactivator Deficiency 57 12 43
Immunodeficiency with Factor I Anomaly 58
Complement Factor I Deficiency 70
Deficiency, Complement Factor I 39
Complete Factor I Deficiency 58
C3 Glomerulopathy 2; C3g2 57
C3 Glomerulopathy 2 57
Cfi Deficiency 72
Cfid 57
C3g2 57

Characteristics:

Orphanet epidemiological data:

58
immunodeficiency with factor i anomaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
rarely, patients may be asymptomatic
heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome


HPO:

31
complement factor i deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0050419
OMIM® 57 610984
MeSH 44 C572568
ICD10 via Orphanet 33 D84.1
UMLS via Orphanet 71 C3463916
Orphanet 58 ORPHA200418
MedGen 41 C3463916
UMLS 70 C0019250 C3463916

Summaries for Complement Factor I Deficiency

MedlinePlus Genetics : 43 Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which may be life-threatening.Some people with complement factor I deficiency have a kidney disorder called glomerulonephritis with isolated C3 deposits. Complement factor I deficiency can also be associated with autoimmune disorders such as rheumatoid arthritis or systemic lupus erythematosus (SLE). Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs.

MalaCards based summary : Complement Factor I Deficiency, also known as complement component 3 inactivator deficiency, is related to afibrinogenemia, congenital and meningitis. An important gene associated with Complement Factor I Deficiency is CFI (Complement Factor I), and among its related pathways/superpathways are Innate Immune System and Creation of C4 and C2 activators. Related phenotypes are arthritis and renal insufficiency

Disease Ontology : 12 A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.

OMIM® : 57 Hereditary deficiency of complement factor I is associated with a propensity to pyogenic infection and usually follows an autosomal recessive pattern of inheritance (Vyse et al., 1996). A subset of patients with CFID develop a renal disease termed 'C3 glomerulopathy' (C3G2), which is characterized by glomerular deposition of C3 observed on renal biopsy. Affected individuals have hematuria and proteinuria with variable progression of renal dysfunction (summary by Servais et al., 2007). For a discussion of genetic heterogeneity of C3G, see C3G1 (609814), also known as complement factor H deficiency. (610984) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Complement factor I deficiency: Autosomal recessive condition associated with a propensity to pyogenic infections.

Wikipedia : 73 Complement factor I, also known as C3b/C4b inactivator, is a protein that in humans is encoded by the... more...

Related Diseases for Complement Factor I Deficiency

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 afibrinogenemia, congenital 30.7 CR1 CFP CFI C4B C3
2 meningitis 30.3 CFP CFI C3
3 bacterial meningitis 29.5 CR1 CFP C3
4 immune-complex glomerulonephritis 29.4 CFI C4B C3
5 lupus erythematosus 28.8 CR1 C4B C4A C3
6 complement deficiency 28.6 CFP CFI C4B C4A C3
7 glomerulonephritis 28.6 CR1 CFP CFI C4B C4A C3
8 complement component 3 deficiency 28.5 CR1 CFP C4B C4A C3
9 systemic lupus erythematosus 28.4 CR1 CFI C4B C4A C3
10 hemolytic uremic syndrome, atypical 1 28.1 CR1 CFP CFI C4B C4A C3
11 bacterial infectious disease 10.3
12 vasculitis 10.2
13 otitis media 10.1
14 respiratory papillomatosis, juvenile recurrent, congenital 10.1
15 atypical hemolytic uremic syndrome with complement gene abnormality 10.1 CFI C3
16 genetic atypical hemolytic-uremic syndrome 10.0 CFI C3
17 diffuse glomerulonephritis 10.0 CFP C3
18 neisseria meningitidis infection 10.0 CFP C3
19 retinal drusen 10.0 CFI C3
20 scarlet fever 10.0 CFP C3
21 acute poststreptococcal glomerulonephritis 10.0 CFP C3
22 autoimmune disease 10.0
23 rheumatic fever-related antigen 10.0
24 hemolytic uremic syndrome, atypical 3 10.0
25 complement component 3 deficiency, autosomal recessive 10.0
26 bacterial sepsis 10.0
27 autosomal recessive disease 10.0
28 meningococcal meningitis 10.0
29 urinary tract infection 10.0
30 aseptic meningitis 10.0
31 bronchopneumonia 10.0
32 acute cystitis 10.0
33 rheumatic fever 10.0
34 purpura 10.0
35 acute disseminated encephalomyelitis 10.0
36 mollaret meningitis 10.0
37 rapidly progressive glomerulonephritis 10.0 CFP C3
38 proliferative glomerulonephritis 10.0 CR1 C3
39 encephalitis 9.9
40 progressive relapsing multiple sclerosis 9.9 CFP C3
41 capillary leak syndrome 9.9 C4A C3
42 thrombotic thrombocytopenic purpura 9.9 CFI C3
43 degeneration of macula and posterior pole 9.9 CFI C3
44 c3 glomerulopathy 9.9 CFP CFI C3
45 juvenile dermatitis herpetiformis 9.8 C4B C4A
46 immunodeficiency due to a classical component pathway complement deficiency 9.8 C4B C4A
47 epilepsy, familial temporal lobe, 2 9.8 C4B C4A
48 felty syndrome 9.8 C4B C4A
49 lyme disease 9.8 CFI C4A C3
50 membranoproliferative glomerulonephritis 9.8 CFP C4A C3

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



Diseases related to Complement Factor I Deficiency

Symptoms & Phenotypes for Complement Factor I Deficiency

Human phenotypes related to Complement Factor I Deficiency:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 arthritis 31 HP:0001369
2 renal insufficiency 31 HP:0000083
3 sinusitis 31 HP:0000246
4 recurrent otitis media 31 HP:0000403
5 recurrent urinary tract infections 31 HP:0000010
6 vasculitis 31 HP:0002633
7 pyelonephritis 31 HP:0012330
8 recurrent skin infections 31 HP:0001581
9 decreased serum complement c3 31 HP:0005421
10 glomerulonephritis 31 HP:0000099
11 recurrent streptococcus pneumoniae infections 31 HP:0005366
12 recurrent sinusitis 31 HP:0011108
13 decreased serum complement factor b 31 HP:0005416
14 decreased serum complement factor i 31 HP:0005356
15 recurrent haemophilus influenzae infections 31 HP:0005376
16 decreased serum complement factor h 31 HP:0005369
17 recurrent meningococcal disease 31 HP:0005381
18 recurrent meningitis 31 HP:0006946

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
arthritis

Head And Neck Ears:
recurrent otitis media

Cardiovascular Vascular:
vasculitis

Immunology:
decreased serum complement c3
decreased serum complement factor i
activation of the alternative complement pathway and depletion of complement components
decreased serum complement factor b (cfb, )
decreased serum complement factor h (cfh, )
more
Neurologic Central Nervous System:
recurrent meningitis

Respiratory:
recurrent respiratory infections

Genitourinary Bladder:
recurrent urinary tract infections

Skin Nails Hair Skin:
recurrent skin infections

Head And Neck Head:
recurrent sinusitis

Clinical features from OMIM®:

610984 (Updated 05-Apr-2021)

Drugs & Therapeutics for Complement Factor I Deficiency

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

Cochrane evidence based reviews: complement factor i deficiency

Genetic Tests for Complement Factor I Deficiency

Genetic tests related to Complement Factor I Deficiency:

# Genetic test Affiliating Genes
1 Hereditary Factor I Deficiency Disease 29

Anatomical Context for Complement Factor I Deficiency

Publications for Complement Factor I Deficiency

Articles related to Complement Factor I Deficiency:

(show all 29)
# Title Authors PMID Year
1
The molecular basis of hereditary complement factor I deficiency. 61 6 57
8613545 1996
2
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 57 6
17018561 2007
3
Molecular characterization of homozygous hereditary factor I deficiency. 6 57
12562389 2003
4
A second case of human C3b inhibitor (KAF) deficiency. 57 6
849647 1977
5
Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency. 6 61
25988862 2015
6
Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family. 57 61
16412054 2006
7
Glomerulonephritis in a patient with complement factor I deficiency. 57 61
10352206 1999
8
Hereditary complement factor I deficiency. 57 61
7922290 1994
9
Inactivator of the third component of complement as an inhibitor in the properdin pathway. 57
4507613 1972
10
Deficiency of C3 inactivator in man. 57
4997111 1971
11
Studies in vivo and in vitro on an abnormality in the metabolism of C3 in a patient with increased susceptibility to infection. 57
4097977 1970
12
Increased susceptibility to infection associated with abnormalities of complement-mediated functions and of the third component of complement (C3). 57
4188976 1970
13
Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency. 61
32853637 2021
14
Complement factor I deficiency in a 3-year-old boy with glomerulonephritis. 61
32687990 2020
15
Complement factor I deficiency: A potentially treatable cause of fulminant cerebral inflammation. 61
32098865 2020
16
Simultaneous acute pancreatitis and angioedema associated with angiotensin-converting enzyme inhibitor. 61
31929301 2019
17
Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients. 61
29292855 2019
18
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods. 61
31231365 2019
19
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations. 61
28942469 2017
20
Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion. 61
22710145 2012
21
Genetic, molecular and functional analyses of complement factor I deficiency. 61
19065647 2009
22
Molecular characterization of Complement Factor I deficiency in two Spanish families. 61
18374984 2008
23
[Complement factor I deficiency revealed by repeated systemic Streptococcus pneumoniae infection]. 61
16806862 2006
24
Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis. 61
16138437 2005
25
Complement factor I deficiency associated with recurrent meningitis coinciding with menstruation. 61
11709004 2001
26
Complement factor I deficiency in a family with recurrent infections. 61
9476132 1997
27
Complement-activating ability of leucocytes from patients with complement factor I deficiency. 61
9301541 1997
28
Complement factor I deficiency with recurrent aseptic meningitis. 61
8507128 1993
29
A family with complement factor I deficiency. 61
2940676 1986

Variations for Complement Factor I Deficiency

ClinVar genetic disease variations for Complement Factor I Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFI NM_000204.4(CFI):c.1253A>T (p.His418Leu) SNV Pathogenic 12118 rs121964912 GRCh37: 4:110667554-110667554
GRCh38: 4:109746398-109746398
2 CFI CFI, IVS5DS G-A, -1 SNV Pathogenic 12119 GRCh37:
GRCh38:
3 CFI CFI, 2-BP INS, 1205AT Insertion Pathogenic 12120 GRCh37:
GRCh38:
4 CFI NM_000204.4(CFI):c.728G>A (p.Gly243Asp) SNV Pathogenic 12124 rs121964916 GRCh37: 4:110681723-110681723
GRCh38: 4:109760567-109760567
5 CFI NM_000204.4(CFI):c.162C>G (p.Cys54Trp) SNV Pathogenic 560185 rs1553915717 GRCh37: 4:110687876-110687876
GRCh38: 4:109766720-109766720
6 CFI NM_001318057.2(CFI):c.1198_1199AT[3] (p.Trp401fs) Microsatellite Pathogenic 280145 rs758049059 GRCh37: 4:110667629-110667630
GRCh38: 4:109746473-109746474
7 CFI NM_000204.5(CFI):c.1458G>A (p.Trp486Ter) SNV Pathogenic 1032925 GRCh37: 4:110663723-110663723
GRCh38: 4:109742567-109742567
8 CFI NM_000204.4(CFI):c.559C>T (p.Arg187Ter) SNV Pathogenic 631934 rs368615806 GRCh37: 4:110682772-110682772
GRCh38: 4:109761616-109761616
9 CFI NM_000204.4(CFI):c.1532C>T (p.Ala511Val) SNV Uncertain significance 625917 rs760801046 GRCh37: 4:110663649-110663649
GRCh38: 4:109742493-109742493
10 CFI NM_000204.5(CFI):c.1085G>C (p.Gly362Ala) SNV Uncertain significance 1028129 GRCh37: 4:110670437-110670437
GRCh38: 4:109749281-109749281

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

72
# Symbol AA change Variation ID SNP ID
1 CFI p.His418Leu VAR_026757 rs121964912
2 CFI p.Gly243Asp VAR_034907 rs121964916

Expression for Complement Factor I Deficiency

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

Pathways for Complement Factor I Deficiency

Pathways related to Complement Factor I Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 CR1 CFP CFI C4B C4A C3
2
Show member pathways
11.72 CR1 CFI C4B C4A C3
3 11.6 CFI C4B C4A C3
4 11.52 CR1 CFI C4B C4A C3
5
Show member pathways
11.47 CFP C4B C4A C3
6 11.43 C4B C4A C3
7 11.39 CR1 C3
8
Show member pathways
11.3 CR1 CFP CFI C4B C4A C3
9 11.19 CR1 C3

GO Terms for Complement Factor I Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.72 CFP CFI C4B C4A C3
2 extracellular exosome GO:0070062 9.55 CR1 CFI C4B C4A C3
3 endoplasmic reticulum lumen GO:0005788 9.43 CFP C4A C3
4 extracellular space GO:0005615 9.35 CFP CFI C4B C4A C3
5 blood microparticle GO:0072562 8.8 C4B C4A C3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.8 CR1 CFP CFI C4B C4A C3
2 neutrophil degranulation GO:0043312 9.67 CR1 CFP C3
3 complement activation GO:0006956 9.67 CFP C4B C4A C3
4 inflammatory response GO:0006954 9.65 C4B C4A C3
5 negative regulation of endopeptidase activity GO:0010951 9.63 C4B C4A C3
6 innate immune response GO:0045087 9.63 CR1 CFP CFI C4B C4A C3
7 complement activation, alternative pathway GO:0006957 9.58 CR1 CFP C3
8 positive regulation of activation of membrane attack complex GO:0001970 9.43 CR1 C3
9 positive regulation of apoptotic cell clearance GO:2000427 9.43 C4B C4A C3
10 complement activation, classical pathway GO:0006958 9.35 CR1 CFI C4B C4A C3
11 regulation of complement activation GO:0030449 9.1 CR1 CFP CFI C4B C4A C3

Molecular functions related to Complement Factor I Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase inhibitor activity GO:0004866 8.8 C4B C4A C3

Sources for Complement Factor I Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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