MCID: CMP004
MIFTS: 47

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 54 12 25 71 13 14
Hereditary Factor I Deficiency Disease 25 29 69
Complement Component 3 Inactivator Deficiency 12 25
C3 Inactivator Deficiency 12 25
Immunodeficiency with Factor I Anomaly 56
Complement Factor I Deficiency 69
Complement Factor I 13
Cfi Deficiency 71

Characteristics:

Orphanet epidemiological data:

56
immunodeficiency with factor i anomaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

54
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:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 610984
Disease Ontology 12 DOID:0050419
Orphanet 56 ORPHA200418
UMLS via Orphanet 70 C3463916
ICD10 via Orphanet 34 D84.1
MedGen 40 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 hereditary factor i deficiency disease, is related to complement factor h deficiency and gout susceptibility 4, and has symptoms including recurrent urinary tract infections, renal insufficiency and arthritis. 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. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include skin and heart.

OMIM : 54
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 2XRC... 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:

54

Respiratory:
recurrent respiratory infections

Skeletal:
arthritis

Cardiovascular- Vascular:
vasculitis

Head And Neck- Head:
recurrent sinusitis

Immunology:
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 c3
decreased serum complement factor h (cfh, )
more
Genitourinary- Bladder:
recurrent urinary tract infections

Skin Nails & Hair- Skin:
recurrent skin infections

Head And Neck- Ears:
recurrent otitis media

Neurologic- Central Nervous System:
recurrent meningitis


Clinical features from OMIM:

610984

Human phenotypes related to Complement Factor I Deficiency:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 recurrent urinary tract infections 32 HP:0000010
2 renal insufficiency 32 HP:0000083
3 arthritis 32 HP:0001369
4 decreased serum complement factor h 32 HP:0005369
5 glomerulonephritis 32 HP:0000099
6 recurrent skin infections 32 HP:0001581
7 pyelonephritis 32 HP:0012330
8 vasculitis 32 HP:0002633
9 recurrent otitis media 32 HP:0000403
10 recurrent sinusitis 32 HP:0011108
11 recurrent meningitis 32 HP:0006946
12 decreased serum complement factor i 32 HP:0005356
13 abnormality of metabolism/homeostasis 32 HP:0001939
14 decreased serum complement factor b 32 HP:0005416
15 recurrent streptococcus pneumoniae infections 32 HP:0005366
16 decreased serum complement c3 32 HP:0005421
17 recurrent haemophilus influenzae infections 32 HP:0005376
18 recurrent meningococcal disease 32 HP:0005381

Drugs & Therapeutics for Complement Factor I Deficiency

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

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
2 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
4 Pharmaceutical Solutions Phase 4,Phase 3
5
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
6 tannic acid Approved, Nutraceutical Phase 3
7 insulin Phase 3,Phase 2,Phase 1,Early Phase 1
8 Insulin, Globin Zinc Phase 3,Phase 2,Phase 1,Early Phase 1
9 Mitogens Phase 3,Phase 2,Phase 1,Early Phase 1
10 Antibodies Phase 3
11 Immunoglobulins Phase 3
12 Complement Factor I Phase 2,Early Phase 1
13
Hydrocortisone Approved, Vet_approved Early Phase 1 50-23-7 5754 657311
14
Zinc Approved Early Phase 1 7440-66-6 32051 23994
15
Butyric Acid Experimental Early Phase 1 107-92-6 264
16 Anti-Inflammatory Agents Early Phase 1
17 Cortisol succinate Early Phase 1
18 Hydrocortisone 17-butyrate 21-propionate Early Phase 1
19 Hydrocortisone acetate Early Phase 1
20 Hydrocortisone-17-butyrate Early Phase 1
21 Hypoglycemic Agents Early Phase 1
22 Hemostatics

Interventional clinical trials:

(show all 19)

id Name Status NCT ID Phase Drugs
1 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
2 An Open-label Phase 4 Study to Explore Immunogenicity of the Liquid Formulation of Saizen® in Subjects With Adult Growth Hormone Deficiency (AGHD) Completed NCT01806298 Phase 4 Saizen® solution for injection (referred as Saizen®)
3 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
4 Gammanorm Quality of Life Study in Immunodeficient Patients Using Rapid Push or Pumps Recruiting NCT02180763 Phase 4
5 A Study to Compare Quality of Life and Satisfaction in Primary Immunodeficient Patients Treated With Subcutaneous Injections of Gammanorm® 165 mg/mL Administered With Two Different Delivery Devices: Injections Using Pump or Rapid Push Recruiting NCT02503293 Phase 4
6 A Study to Evaluate the Efficacy of Somatropin in Adults With Growth Hormone Deficiency Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
7 Three-times-weekly Versus Daily Growth Hormone (GH) Treatment in naïve GH-deficient Children Completed NCT03033121 Phase 3 Growth Hormone
8 Safety and Efficacy Study of Serostim® Human Immunodeficiency Virus-Associated Adipose Redistribution Syndrome Completed NCT01077960 Phase 3
9 Saizen® Solution for Injection Adult Growth Hormone Deficiency (GHD) Immunogenicity Study Terminated NCT01237340 Phase 3 Saizen®
10 Safety, Tolerability and Efficacy of Weekly TV-1106 in Adults With Growth Hormone Deficiency Completed NCT01811576 Phase 2 TV-1106;Recombinant human growth hormone
11 Constructing an Insulin-Like Growth Factor-based Prediction Model Terminated NCT00263445 Phase 1, Phase 2
12 A Trial Investigating Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of a Single Dose of Long-acting Growth Hormone Compared to Daily Dosing of Norditropin® SimpleXx® in Children With Growth Hormone Deficiency Completed NCT01973244 Phase 1 NNC0195-0092;somatropin
13 A Trial Investigating the Safety, Tolerability, Availability and Distribution in the Body of Once-weekly Long-acting Growth Hormone Compared to Once Daily Norditropin NordiFlex® in Adults With Growth Hormone Deficiency Completed NCT01706783 Phase 1 NNC0195-0092;Norditropin NordiFlex®
14 First Human Dose Trial of NNC0195-0092 in Healthy Subjects Completed NCT01514500 Phase 1 NNC0195-0092;placebo;NNC0195-0092;placebo
15 Low Dose Growth Hormone (GH) on Insulin Sensitivity and Cortisol Production Rates Completed NCT00517062 Early Phase 1 Growth hormone (Genotropin);Placebo
16 Drug Use Investigation of Somatropin for GHD-ADULTS. Completed NCT00601419 Somatropin
17 Safety and Efficacy of Long-term Somatropin Treatment in Adults Completed NCT01543880 somatropin
18 Platelet Transfusion During Neonatal Open Heart Surgery Recruiting NCT03045068
19 An Observational Cohort Study of the Safety and Efficacy of Fibrinogen Concentrate, Human (FCH) in Subjects With Congenital Fibrinogen Deficiency Active, not recruiting NCT02427217

Search NIH Clinical Center for Complement Factor I Deficiency

Genetic Tests for Complement Factor I Deficiency

Genetic tests related to Complement Factor I Deficiency:

id 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:

39
Skin, Heart

Publications for Complement Factor I Deficiency

Articles related to Complement Factor I Deficiency:

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.63 C3 C4B CFI
2 neutrophil degranulation GO:0043312 9.61 C3 CFP CR1
3 immune system process GO:0002376 9.58 C3 C4B 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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