CFID
MCID: CMP004
MIFTS: 44

Complement Factor I Deficiency (CFID)

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

Aliases & Classifications for Complement Factor I Deficiency

MalaCards integrated aliases for Complement Factor I Deficiency:

Name: Complement Factor I Deficiency 56 12 25 73 13 43 15
Complement Component 3 Inactivator Deficiency 56 12 25
Hereditary Factor I Deficiency Disease 25 29 71
C3 Inactivator Deficiency 56 12 25
Immunodeficiency with Factor I Anomaly 58
Complement Factor I Deficiency 71
Deficiency, Complement Factor I 39
Complete Factor I Deficiency 58
Cfi Deficiency 73
Cfid 56

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 610984
MeSH 43 C572568
ICD10 via Orphanet 33 D84.1
UMLS via Orphanet 72 C3463916
Orphanet 58 ORPHA200418
MedGen 41 C3463916
UMLS 71 C0019250 C3463916

Summaries for Complement Factor I Deficiency

Genetics Home Reference : 25 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. The drugs Zinc and Pancrelipase have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and eye, and 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 : 56 Hereditary deficiency of complement factor I is associated with a propensity to pyogenic infection and follows an autosomal recessive pattern of inheritance (Vyse et al., 1996). See also complement factor H deficiency (609814), which shows overlapping clinical features. (610984)

UniProtKB/Swiss-Prot : 73 Complement factor I deficiency: Autosomal recessive condition associated with a propensity to pyogenic infections.

Wikipedia : 74 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 58)
# Related Disease Score Top Affiliating Genes
1 afibrinogenemia, congenital 31.1 CR1 CFP CFI C4B C3
2 meningitis 29.9 CFP CFI C3
3 meningococcal meningitis 29.7 CFP C3
4 immune-complex glomerulonephritis 29.6 CFI C4B
5 bacterial meningitis 29.1 CR1 CFP C3
6 complement component 3 deficiency 28.5 CR1 CFP C4B C3
7 glomerulonephritis 28.4 CR1 CFP CFI C4B C3
8 complement deficiency 27.9 CFP CFI C4B C3 C2
9 systemic lupus erythematosus 27.5 CR1 CFI C4B C3 C2
10 complement factor h deficiency 11.4
11 human immunodeficiency virus type 1 10.3
12 chronic fatigue syndrome 10.3
13 bacterial infectious disease 10.2
14 vasculitis 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 enterocolitis 10.0 CFI C3
19 autoimmune disease 10.0
20 otitis media 10.0
21 obsolete: atypical hemolytic uremic syndrome with i factor anomaly 10.0
22 neisseria meningitidis infection 10.0 CFP C3
23 louse-borne relapsing fever 9.9 C4B C3
24 acute poststreptococcal glomerulonephritis 9.9 CFP C3
25 relapsing fever 9.9 C4B C3
26 tick-borne relapsing fever 9.9 C4B C3
27 rapidly progressive glomerulonephritis 9.9 CFP C3
28 pediatric systemic lupus erythematosus 9.9 C4B C3
29 thrombotic thrombocytopenic purpura 9.8 CFI C3
30 membranoproliferative glomerulonephritis 9.8 CFP C3
31 complement component 3 deficiency, autosomal recessive 9.8
32 bacterial sepsis 9.8
33 autosomal recessive disease 9.8
34 aseptic meningitis 9.8
35 bronchopneumonia 9.8
36 rheumatic fever 9.8
37 purpura 9.8
38 mollaret meningitis 9.8
39 lyme disease 9.8 CFI C3
40 encephalitis 9.8
41 c3 glomerulopathy 9.7 CFP CFI C3
42 immunodeficiency due to a classical component pathway complement deficiency 9.7 C4B C2
43 proliferative glomerulonephritis 9.7 CR1 C3
44 progressive relapsing multiple sclerosis 9.7 CFP C4B C3
45 complement component 2 deficiency 9.6 C4B C2
46 hemoglobinuria 9.6 CR1 CFI C3
47 paroxysmal nocturnal hemoglobinuria 9.6 CR1 CFI C3
48 hemolytic anemia 9.5 CR1 CFI C3
49 angioedema 9.5 C4B C3
50 retinal drusen 9.5 CFI C3 C2

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 urinary tract infections 31 HP:0000010
5 recurrent otitis media 31 HP:0000403
6 vasculitis 31 HP:0002633
7 recurrent haemophilus influenzae infections 31 HP:0005376
8 recurrent skin infections 31 HP:0001581
9 decreased serum complement factor i 31 HP:0005356
10 decreased serum complement factor b 31 HP:0005416
11 glomerulonephritis 31 HP:0000099
12 pyelonephritis 31 HP:0012330
13 recurrent sinusitis 31 HP:0011108
14 recurrent streptococcus pneumoniae infections 31 HP:0005366
15 decreased serum complement c3 31 HP:0005421
16 decreased serum complement factor h 31 HP:0005369
17 recurrent meningitis 31 HP:0006946
18 recurrent meningococcal disease 31 HP:0005381

Symptoms via clinical synopsis from OMIM:

56
Skeletal:
arthritis

Genitourinary Bladder:
recurrent urinary tract infections

Cardiovascular Vascular:
vasculitis

Immunology:
decreased serum complement factor i
decreased serum complement c3
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

Head And Neck Ears:
recurrent otitis media

Skin Nails Hair Skin:
recurrent skin infections

Head And Neck Head:
recurrent sinusitis

Clinical features from OMIM:

610984

Drugs & Therapeutics for Complement Factor I Deficiency

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 3 7440-66-6 32051
2
Pancrelipase Approved, Investigational Phase 3 53608-75-6
3
Insulin detemir Approved Phase 3 169148-63-4 5311023
4 insulin Phase 3
5 Hypoglycemic Agents Phase 3
6 Insulin, Globin Zinc Phase 3
7 pancreatin Phase 3
8 Insulin, Long-Acting Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cystic Fibrosis - Insulin Deficiency, Early Action Recruiting NCT01100892 Phase 3 Once-daily insulin detemir

Search 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

MalaCards organs/tissues related to Complement Factor I Deficiency:

40
Skin, Kidney, Eye

Publications for Complement Factor I Deficiency

Articles related to Complement Factor I Deficiency:

(show all 26)
# Title Authors PMID Year
1
The molecular basis of hereditary complement factor I deficiency. 61 56 6
8613545 1996
2
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 56 6
17018561 2007
3
Molecular characterization of homozygous hereditary factor I deficiency. 56 6
12562389 2003
4
A second case of human C3b inhibitor (KAF) deficiency. 56 6
849647 1977
5
Glomerulonephritis in a patient with complement factor I deficiency. 61 56
10352206 1999
6
Hereditary complement factor I deficiency. 61 56
7922290 1994
7
C3 Glomerulopathy 6
20301598 2007
8
Inactivator of the third component of complement as an inhibitor in the properdin pathway. 56
4507613 1972
9
Deficiency of C3 inactivator in man. 56
4997111 1971
10
Studies in vivo and in vitro on an abnormality in the metabolism of C3 in a patient with increased susceptibility to infection. 56
4097977 1970
11
Simultaneous acute pancreatitis and angioedema associated with angiotensin-converting enzyme inhibitor. 61
31929301 2019
12
Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients. 61
29292855 2019
13
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods. 61
31231365 2019
14
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations. 61
28942469 2017
15
Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency. 61
25988862 2015
16
Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion. 61
22710145 2012
17
Genetic, molecular and functional analyses of complement factor I deficiency. 61
19065647 2009
18
Molecular characterization of Complement Factor I deficiency in two Spanish families. 61
18374984 2008
19
[Complement factor I deficiency revealed by repeated systemic Streptococcus pneumoniae infection]. 61
16806862 2006
20
Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family. 61
16412054 2006
21
Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis. 61
16138437 2005
22
Complement factor I deficiency associated with recurrent meningitis coinciding with menstruation. 61
11709004 2001
23
Complement factor I deficiency in a family with recurrent infections. 61
9476132 1997
24
Complement-activating ability of leucocytes from patients with complement factor I deficiency. 61
9301541 1997
25
Complement factor I deficiency with recurrent aseptic meningitis. 61
8507128 1993
26
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 GRCh37 Pos GRCh38 Pos
1 CFI NM_000204.4(CFI):c.728G>A (p.Gly243Asp)SNV Pathogenic 12124 rs121964916 4:110681723-110681723 4:109760567-109760567
2 CFI NM_000204.4(CFI):c.1253A>T (p.His418Leu)SNV Pathogenic 12118 rs121964912 4:110667554-110667554 4:109746398-109746398
3 CFI CFI, IVS5DS G-A, -1SNV Pathogenic 12119
4 CFI CFI, 2-BP INS, 1205ATinsertion Pathogenic 12120
5 CFI NM_000204.4(CFI):c.162C>G (p.Cys54Trp)SNV Pathogenic 560185 rs1553915717 4:110687876-110687876 4:109766720-109766720
6 CFI NM_000204.4(CFI):c.1532C>T (p.Ala511Val)SNV Uncertain significance 625917 rs760801046 4:110663649-110663649 4:109742493-109742493

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

73
# 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 C3 C2
2
Show member pathways
11.82 CR1 CFI C4B C3 C2
3 11.72 CR1 CFI C4B C3 C2
4 11.6 CFI C4B C3 C2
5 11.43 C4B C3 C2
6 11.39 CR1 C3
7
Show member pathways
11.38 CR1 CFP C4B C3 C2
8
Show member pathways
11.23 CR1 CFP CFI C4B C3 C2
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 9.55 CFP CFI C4B C3 C2
2 extracellular exosome GO:0070062 9.35 CR1 CFI C4B C3 C2
3 blood microparticle GO:0072562 9.26 C4B C3
4 extracellular space GO:0005615 9.02 CFP CFI C4B C3 C2

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.63 CR1 CFP CFI C4B C3 C2
2 complement activation GO:0006956 9.62 CFP C4B C3 C2
3 immune system process GO:0002376 9.61 CR1 C4B C3
4 neutrophil degranulation GO:0043312 9.58 CR1 CFP C3
5 positive regulation of apoptotic cell clearance GO:2000427 9.43 C4B C3 C2
6 complement activation, alternative pathway GO:0006957 9.37 CFP C3
7 complement activation, classical pathway GO:0006958 9.35 CR1 CFI C4B C3 C2
8 regulation of complement activation GO:0030449 9.1 CR1 CFP CFI C4B C3 C2

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 8.62 C4B C3

Sources for Complement Factor I Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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