CFID
MCID: CMP004
MIFTS: 45

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 58 12 26 76 13 45 15
Complement Component 3 Inactivator Deficiency 58 12 26
Hereditary Factor I Deficiency Disease 26 30 74
C3 Inactivator Deficiency 58 12 26
Immunodeficiency with Factor I Anomaly 60
Complement Factor I Deficiency 74
Deficiency, Complement Factor I 41
Complete Factor I Deficiency 60
Complement Factor I 13
Cfi Deficiency 76
Cfid 58

Characteristics:

Orphanet epidemiological data:

60
immunodeficiency with factor i anomaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
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:

33
complement factor i deficiency:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0050419
OMIM 58 610984
MeSH 45 C572568
ICD10 via Orphanet 35 D84.1
UMLS via Orphanet 75 C3463916
Orphanet 60 ORPHA200418
MedGen 43 C3463916

Summaries for Complement Factor I Deficiency

Genetics Home Reference : 26 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.

MalaCards based summary : Complement Factor I Deficiency, also known as complement component 3 inactivator deficiency, is related to afibrinogenemia, congenital and hemolytic-uremic syndrome. 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. Affiliated tissues include skin, lung and t cells, 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 : 58 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 : 76 Complement factor I deficiency: Autosomal recessive condition associated with a propensity to pyogenic infections.

Wikipedia : 77 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 32.1 C3 CFI
2 hemolytic-uremic syndrome 30.1 C3 CFI
3 immune-complex glomerulonephritis 29.8 C4B CFI
4 c3 glomerulopathy 29.8 C3 CFP
5 hemolytic uremic syndrome, atypical 1 29.6 C3 C4B CFI CFP
6 afibrinogenemia 29.2 C3 CFI CFP CR1
7 lupus erythematosus 28.6 C3 C4A C4B CR2
8 glomerulonephritis 28.2 C3 C4A C4B CFI CFP CR1
9 systemic lupus erythematosus 28.1 C3 C4A C4B CR1 CR2
10 complement factor h deficiency 11.3
11 colorectal cancer 10.5
12 chromophobe renal cell carcinoma 10.5
13 hepatosplenic t-cell lymphoma 10.5
14 chronic fatigue syndrome 10.2
15 macular degeneration, age-related, 1 10.2
16 enterocolitis 10.1 C3 CFI
17 proliferative glomerulonephritis 10.1 C3 CR1
18 neisseria meningitidis infection 10.1 C3 CFP
19 degeneration of macula and posterior pole 10.1 C3 CFI
20 parapharyngeal meningioma 10.1 CR1 CR2
21 interdigitating dendritic cell sarcoma 10.1 CR1 CR2
22 langerhans cell sarcoma 10.0 CR1 CR2
23 t-cell/histiocyte rich large b cell lymphoma 10.0 CR1 CR2
24 histiocytic and dendritic cell cancer 10.0 CR1 CR2
25 reticulum cell sarcoma 10.0 CR1 CR2
26 lateral medullary syndrome 10.0 CR1 CR2
27 dendritic cell tumor 10.0 CR1 CR2
28 castleman disease 10.0 CR1 CR2
29 complement component 3 deficiency 10.0 C3 CFI CFP
30 vasculitis 10.0
31 meningitis 10.0
32 follicular dendritic cell sarcoma 10.0 CR1 CR2
33 hemoglobinuria 9.9 C3 CR1
34 hypersensitivity vasculitis 9.9 C3 C4A
35 inflammatory myofibroblastic tumor 9.8 CR1 CR2
36 immunodeficiency due to a classical component pathway complement deficiency 9.8 C4A C4B
37 juvenile dermatitis herpetiformis 9.8 C4A C4B
38 aseptic meningitis 9.8
39 epilepsy, familial temporal lobe, 2 9.8 C4A C4B
40 encephalitis 9.8
41 indeterminate leprosy 9.8 C4A C4B
42 alzheimer disease 9.7
43 breast cancer 9.7
44 small cell cancer of the lung 9.7
45 lung cancer 9.7
46 acute hemorrhagic leukoencephalitis 9.7
47 hemolytic uremic syndrome, atypical 3 9.7
48 gastric cancer 9.7
49 kuhnt-junius degeneration 9.7
50 squamous cell carcinoma 9.7

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:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 arthritis 33 HP:0001369
2 renal insufficiency 33 HP:0000083
3 sinusitis 33 HP:0000246
4 recurrent otitis media 33 HP:0000403
5 vasculitis 33 HP:0002633
6 recurrent urinary tract infections 33 HP:0000010
7 recurrent haemophilus influenzae infections 33 HP:0005376
8 recurrent skin infections 33 HP:0001581
9 decreased serum complement factor i 33 HP:0005356
10 decreased serum complement factor b 33 HP:0005416
11 glomerulonephritis 33 HP:0000099
12 recurrent sinusitis 33 HP:0011108
13 recurrent streptococcus pneumoniae infections 33 HP:0005366
14 decreased serum complement c3 33 HP:0005421
15 pyelonephritis 33 HP:0012330
16 decreased serum complement factor h 33 HP:0005369
17 recurrent meningitis 33 HP:0006946
18 recurrent meningococcal disease 33 HP:0005381

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
arthritis

Head And Neck Ears:
recurrent otitis media

Genitourinary Bladder:
recurrent urinary tract infections

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

Cardiovascular Vascular:
vasculitis

Skin Nails Hair Skin:
recurrent skin infections

Head And Neck Head:
recurrent sinusitis

Clinical features from OMIM:

610984

MGI Mouse Phenotypes related to Complement Factor I Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 C3 C4B CFI CR2

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 30

Anatomical Context for Complement Factor I Deficiency

MalaCards organs/tissues related to Complement Factor I Deficiency:

42
Skin, Lung, T Cells, Breast, B Cells, Temporal Lobe

Publications for Complement Factor I Deficiency

Articles related to Complement Factor I Deficiency:

(show all 17)
# Title Authors Year
1
Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients. ( 29292855 )
2019
2
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations. ( 28942469 )
2017
3
Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency. ( 25988862 )
2015
4
Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion. ( 22710145 )
2012
5
Genetic, molecular and functional analyses of complement factor I deficiency. ( 19065647 )
2009
6
Molecular characterization of Complement Factor I deficiency in two Spanish families. ( 18374984 )
2008
7
Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family. ( 16412054 )
2006
8
[Complement factor I deficiency revealed by repeated systemic Streptococcus pneumoniae infection]. ( 16806862 )
2006
9
Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis. ( 16138437 )
2005
10
Complement factor I deficiency associated with recurrent meningitis coinciding with menstruation. ( 11709004 )
2001
11
Glomerulonephritis in a patient with complement factor I deficiency. ( 10352206 )
1999
12
Complement-activating ability of leucocytes from patients with complement factor I deficiency. ( 9301541 )
1997
13
Complement factor I deficiency in a family with recurrent infections. ( 9476132 )
1997
14
The molecular basis of hereditary complement factor I deficiency. ( 8613545 )
1996
15
Hereditary complement factor I deficiency. ( 7922290 )
1994
16
Complement factor I deficiency with recurrent aseptic meningitis. ( 8507128 )
1993
17
A family with complement factor I deficiency. ( 2940676 )
1986

Variations for Complement Factor I Deficiency

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

76
# Symbol AA change Variation ID SNP ID
1 CFI p.His418Leu VAR_026757 rs121964912
2 CFI p.Gly243Asp VAR_034907 rs121964916

ClinVar genetic disease variations for Complement Factor I Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFI NM_000204.4(CFI): c.728G> A (p.Gly243Asp) single nucleotide variant Pathogenic rs121964916 GRCh37 Chromosome 4, 110681723: 110681723
2 CFI NM_000204.4(CFI): c.728G> A (p.Gly243Asp) single nucleotide variant Pathogenic rs121964916 GRCh38 Chromosome 4, 109760567: 109760567
3 CFI NM_000204.4(CFI): c.1253A> T (p.His418Leu) single nucleotide variant Pathogenic rs121964912 GRCh37 Chromosome 4, 110667554: 110667554
4 CFI NM_000204.4(CFI): c.1253A> T (p.His418Leu) single nucleotide variant Pathogenic rs121964912 GRCh38 Chromosome 4, 109746398: 109746398
5 CFI CFI, IVS5DS G-A, -1 single nucleotide variant Pathogenic
6 CFI CFI, 2-BP INS, 1205AT insertion Pathogenic
7 CFI NM_000204.4(CFI): c.162C> G (p.Cys54Trp) single nucleotide variant Pathogenic rs1553915717 GRCh37 Chromosome 4, 110687876: 110687876
8 CFI NM_000204.4(CFI): c.162C> G (p.Cys54Trp) single nucleotide variant Pathogenic rs1553915717 GRCh38 Chromosome 4, 109766720: 109766720
9 CFI NM_000204.4(CFI): c.1532C> T (p.Ala511Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 110663649: 110663649
10 CFI NM_000204.4(CFI): c.1532C> T (p.Ala511Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 109742493: 109742493

Expression for Complement Factor I Deficiency

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

Pathways for Complement Factor I Deficiency

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 C3 C4A C4B CFI CFP
2 extracellular space GO:0005615 9.55 C3 C4A C4B CFI CFP
3 endoplasmic reticulum lumen GO:0005788 9.43 C3 C4A CFP
4 blood microparticle GO:0072562 9.13 C3 C4A C4B
5 extracellular exosome GO:0070062 9.1 C3 C4A C4B CFI CR1 CR2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.77 C3 C4A C4B CR1 CR2
2 immune response GO:0006955 9.71 C3 CFP CR2
3 innate immune response GO:0045087 9.7 C3 C4A C4B CFI CFP CR1
4 neutrophil degranulation GO:0043312 9.69 C3 CFP CR1
5 inflammatory response GO:0006954 9.67 C3 C4A C4B
6 negative regulation of endopeptidase activity GO:0010951 9.65 C3 C4A C4B
7 complement activation GO:0006956 9.62 C3 C4A C4B CFP
8 viral entry into host cell GO:0046718 9.52 CR1 CR2
9 complement activation, alternative pathway GO:0006957 9.46 C3 CFP
10 complement receptor mediated signaling pathway GO:0002430 9.43 CR1 CR2
11 positive regulation of apoptotic cell clearance GO:2000427 9.43 C3 C4A C4B
12 complement activation, classical pathway GO:0006958 9.43 C3 C4A C4B CFI CR1 CR2
13 regulation of complement activation GO:0030449 9.17 C3 C4A C4B CFI CFP CR1
14 proteolysis GO:0006508 9.1 CFI

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

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 9.26 CR1 CR2
2 complement binding GO:0001848 9.16 C4B CR2
3 endopeptidase inhibitor activity GO:0004866 9.13 C3 C4A C4B
4 serine-type endopeptidase activity GO:0004252 8.32 CFI

Sources for Complement Factor I Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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