MCID: CMP004
MIFTS: 41

Complement Factor I Deficiency

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

Aliases & Classifications for Complement Factor I Deficiency

MalaCards integrated aliases for Complement Factor I Deficiency:

Name: Complement Factor I Deficiency 53 12 24 71 13 14
Complement Component 3 Inactivator Deficiency 53 12 24
Hereditary Factor I Deficiency Disease 24 28 69
C3 Inactivator Deficiency 53 12 24
Immunodeficiency with Factor I Anomaly 55
Complement Factor I Deficiency 69
Complement Factor I 13
Cfi Deficiency 71
Cfid 53

Characteristics:

Orphanet epidemiological data:

55
immunodeficiency with factor i anomaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

53
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:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare immunological diseases


External Ids:

OMIM 53 610984
Disease Ontology 12 DOID:0050419
Orphanet 55 ORPHA200418
UMLS via Orphanet 70 C3463916
ICD10 via Orphanet 33 D84.1
MedGen 39 C3463916

Summaries for Complement Factor I Deficiency

Genetics Home Reference : 24 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 immune-complex glomerulonephritis, and has symptoms including arthritis, renal insufficiency and abnormality of metabolism/homeostasis. 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 Toxoplasmosis. Affiliated tissues include skin.

OMIM : 53 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 : 71 Complement factor I deficiency: Autosomal recessive condition associated with a propensity to pyogenic infections.

Wikipedia : 72 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

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

Symptoms via clinical synopsis from OMIM:

53
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

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 abnormality of metabolism/homeostasis 31 HP:0001939
4 recurrent otitis media 31 HP:0000403
5 vasculitis 31 HP:0002633
6 recurrent urinary tract infections 31 HP:0000010
7 recurrent skin infections 31 HP:0001581
8 decreased serum complement factor i 31 HP:0005356
9 decreased serum complement factor b 31 HP:0005416
10 recurrent sinusitis 31 HP:0011108
11 decreased serum complement c3 31 HP:0005421
12 recurrent streptococcus pneumoniae infections 31 HP:0005366
13 glomerulonephritis 31 HP:0000099
14 pyelonephritis 31 HP:0012330
15 decreased serum complement factor h 31 HP:0005369
16 recurrent meningitis 31 HP:0006946
17 recurrent haemophilus influenzae infections 31 HP:0005376
18 recurrent meningococcal disease 31 HP:0005381

Drugs & Therapeutics for Complement Factor I Deficiency

Search Clinical Trials , NIH Clinical Center for 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 28

Anatomical Context for Complement Factor I Deficiency

MalaCards organs/tissues related to Complement Factor I Deficiency:

38
Skin

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 hemolytic and uremic syndrome Patients. ( 29292855 )
2018
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
[Complement factor I deficiency revealed by repeated systemic Streptococcus pneumoniae infection]. ( 16806862 )
2006
8
Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family. ( 16412054 )
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 factor I deficiency in a family with recurrent infections. ( 9476132 )
1997
13
Complement-activating ability of leucocytes from patients with complement factor I deficiency. ( 9301541 )
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:

71
# 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.1253A> T (p.His418Leu) single nucleotide variant Pathogenic rs121964912 GRCh37 Chromosome 4, 110667554: 110667554
2 CFI CFI, IVS5DS G-A, -1 single nucleotide variant Pathogenic
3 CFI CFI, 2-BP INS, 1205AT insertion Pathogenic
4 CFI NM_000204.4(CFI): c.728G> A (p.Gly243Asp) single nucleotide variant Pathogenic rs121964916 GRCh37 Chromosome 4, 110681723: 110681723
5 CFI NM_000204.4(CFI): c.80_81delAT (p.Asp27Alafs) deletion Pathogenic rs886043418 GRCh37 Chromosome 4, 110687957: 110687958

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 9.26 C3 C4B CFI CFP
2 blood microparticle GO:0072562 9.16 C3 C4B
3 extracellular space GO:0005615 8.92 C3 C4B CFI CFP

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.63 C3 C4B CFI
2 immune system process GO:0002376 9.61 C3 C4B CR1
3 neutrophil degranulation GO:0043312 9.58 C3 CFP CR1
4 negative regulation of endopeptidase activity GO:0010951 9.48 C3 C4B
5 complement activation, classical pathway GO:0006958 9.46 C3 C4B CFI CR1
6 complement activation GO:0006956 9.43 C3 C4B CFP
7 complement activation, alternative pathway GO:0006957 9.37 C3 CFP
8 innate immune response GO:0045087 9.35 C3 C4B CFI CFP CR1
9 positive regulation of apoptotic cell clearance GO:2000427 9.32 C3 C4B
10 regulation of complement activation GO:0030449 9.02 C3 C4B CFI CFP CR1

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 8.96 C3 C4B
2 serine-type endopeptidase activity GO:0004252 8.8 C3 C4B CFI

Sources for Complement Factor I Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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