MCID: CMP004
MIFTS: 41

Complement Factor I Deficiency

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

Aliases & Classifications for Complement Factor I Deficiency

MalaCards integrated aliases for Complement Factor I Deficiency:

Name: Complement Factor I Deficiency 57 12 25 75 13 15
Complement Component 3 Inactivator Deficiency 57 12 25
Hereditary Factor I Deficiency Disease 25 29 73
C3 Inactivator Deficiency 57 12 25
Immunodeficiency with Factor I Anomaly 59
Complement Factor I Deficiency 73
Deficiency, Complement Factor I 40
Complement Factor I 13
Cfi Deficiency 75
Cfid 57

Characteristics:

Orphanet epidemiological data:

59
immunodeficiency with factor i anomaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
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:

32
complement factor i deficiency:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 610984
Disease Ontology 12 DOID:0050419
Orphanet 59 ORPHA200418
UMLS via Orphanet 74 C3463916
ICD10 via Orphanet 34 D84.1
MedGen 42 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.

MalaCards based summary : Complement Factor I Deficiency, also known as complement component 3 inactivator deficiency, is related to afibrinogenemia, congenital and immune-complex glomerulonephritis. 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, and related phenotypes are recurrent urinary tract infections and renal insufficiency

OMIM : 57 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 : 75 Complement factor I deficiency: Autosomal recessive condition associated with a propensity to pyogenic infections.

Wikipedia : 76 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:

57
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:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 recurrent urinary tract infections 32 HP:0000010
2 renal insufficiency 32 HP:0000083
3 glomerulonephritis 32 HP:0000099
4 sinusitis 32 HP:0000246
5 recurrent otitis media 32 HP:0000403
6 arthritis 32 HP:0001369
7 recurrent skin infections 32 HP:0001581
8 vasculitis 32 HP:0002633
9 decreased serum complement factor i 32 HP:0005356
10 recurrent streptococcus pneumoniae infections 32 HP:0005366
11 decreased serum complement factor h 32 HP:0005369
12 recurrent haemophilus influenzae infections 32 HP:0005376
13 recurrent meningococcal disease 32 HP:0005381
14 decreased serum complement factor b 32 HP:0005416
15 decreased serum complement c3 32 HP:0005421
16 recurrent meningitis 32 HP:0006946
17 recurrent sinusitis 32 HP:0011108
18 pyelonephritis 32 HP:0012330

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 29

Anatomical Context for Complement Factor I Deficiency

MalaCards organs/tissues related to Complement Factor I Deficiency:

41
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
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 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:

75
# 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.80_81delAT (p.Asp27Alafs) deletion Pathogenic rs886043418 GRCh37 Chromosome 4, 110687957: 110687958
8 CFI NM_000204.4(CFI): c.80_81delAT (p.Asp27Alafs) deletion Pathogenic rs886043418 GRCh38 Chromosome 4, 109766801: 109766802

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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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