CFDD
MCID: CMP041
MIFTS: 24

Complement Factor D Deficiency (CFDD)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
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Aliases & Classifications for Complement Factor D Deficiency

MalaCards integrated aliases for Complement Factor D Deficiency:

Name: Complement Factor D Deficiency 57 73 71
Recurrent Neisseria Infections Due to Factor D Deficiency 58 28 5
Factor D Deficiency 57 73
Cfdd 57 73
Deficiency, Complement Factor D 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable severity


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 613912
MeSH 43 D007154
ICD10 via Orphanet 32 D84.1
UMLS via Orphanet 72 C0398764
Orphanet 58 ORPHA169467
SNOMED-CT via HPO 69 24743004 428875002
UMLS 71 C0398764

Summaries for Complement Factor D Deficiency

Orphanet: 58 Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.

MalaCards based summary: Complement Factor D Deficiency, also known as recurrent neisseria infections due to factor d deficiency, is related to immune deficiency disease and systemic lupus erythematosus. An important gene associated with Complement Factor D Deficiency is CFD (Complement Factor D). Related phenotypes are recurrent bacterial infections and complement deficiency

OMIM®: 57 Complement factor D deficiency is an autosomal recessive immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway (summary by Biesma et al., 2001). (613912) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway.

Related Diseases for Complement Factor D Deficiency

Diseases related to Complement Factor D Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 11.4
2 systemic lupus erythematosus 10.0
3 glomerulonephritis 10.0
4 immune-complex glomerulonephritis 10.0
5 meningococcal infection 10.0
6 toxic shock syndrome 9.8

Graphical network of the top 20 diseases related to Complement Factor D Deficiency:



Diseases related to Complement Factor D Deficiency

Symptoms & Phenotypes for Complement Factor D Deficiency

Human phenotypes related to Complement Factor D Deficiency:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent bacterial infections 30 HP:0002718
2 complement deficiency 30 HP:0004431

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Immunology:
increased susceptibility to bacterial infections
increased susceptibility to neisseria infection

Laboratory Abnormalities:
decreased complement factor d
decreased activity of complement factor d

Clinical features from OMIM®:

613912 (Updated 24-Oct-2022)

Drugs & Therapeutics for Complement Factor D Deficiency

Search Clinical Trials, NIH Clinical Center for Complement Factor D Deficiency

Genetic Tests for Complement Factor D Deficiency

Genetic tests related to Complement Factor D Deficiency:

# Genetic test Affiliating Genes
1 Recurrent Neisseria Infections Due to Factor D Deficiency 28 CFD

Anatomical Context for Complement Factor D Deficiency

Publications for Complement Factor D Deficiency

Articles related to Complement Factor D Deficiency:

(show all 18)
# Title Authors PMID Year
1
Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections. 62 57 5
16527897 2006
2
A family with complement factor D deficiency. 62 57 5
11457876 2001
3
Complete and partial deficiencies of complement factor D in a Dutch family. 57
2687330 1989
4
Functional deficiency of complement factor D in a monozygous twin. 57
6568950 1984
5
Selection of potential reference genes for RT-qPCR in the plant pathogenic fungus Colletotrichum fructicola. 62
36003927 2022
6
HFD-induced hepatic lipid accumulation and inflammation are decreased in Factor D deficient mouse. 62
33067533 2020
7
A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway. 62
29522842 2018
8
Disconfirming contamination-related threat beliefs by exposure plus safety behavior. 62
27888747 2017
9
Meningococcal conjugate vaccines policy update: booster dose recommendations. 62
22123893 2011
10
The DRE motif is a key component in the expression regulation of the importin-beta encoding Ketel gene in Drosophila. 62
18656533 2008
11
Mesangial immune complex glomerulonephritis due to complement factor D deficiency. 62
17410102 2007
12
Effects of complement factor D deficiency on the renal disease of MRL/lpr mice. 62
14675043 2004
13
[Factor D deficiency]. 62
11212698 2000
14
Complement factor D deficiency in an infant first seen with pneumococcal neonatal sepsis. 62
9847449 1998
15
Identification of CFDD (common regulatory factor for DNA replication and DREF genes) and role of its binding site in regulation of the proliferating cell nuclear antigen gene promoter. 62
9278447 1997
16
Genetic deficiencies of the complement system and association with disease--early components. 62
8340675 1993
17
Binding isotherms by continuous-flow dynamic dialysis. 62
16867582 1986
18
Deletion of plasma thromboplastin factor D deficiency. 62
13588176 1958

Variations for Complement Factor D Deficiency

ClinVar genetic disease variations for Complement Factor D Deficiency:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFD NM_001928.4(CFD):c.638T>G (p.Val213Gly) SNV Pathogenic
16565 rs267606720 GRCh37: 19:863114-863114
GRCh38: 19:863114-863114
2 CFD NM_001928.4(CFD):c.125C>A (p.Ser42Ter) SNV Pathogenic
16564 rs104894667 GRCh37: 19:860686-860686
GRCh38: 19:860686-860686
3 CFD NM_001928.4(CFD):c.463A>G (p.Ile155Val) SNV Uncertain Significance
625914 rs373019471 GRCh37: 19:861804-861804
GRCh38: 19:861804-861804

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

73
# Symbol AA change Variation ID SNP ID
1 CFD p.Val213Gly VAR_034866 rs267606720
2 CFD p.Cys214Arg VAR_034867 rs267606721

Expression for Complement Factor D Deficiency

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

Pathways for Complement Factor D Deficiency

GO Terms for Complement Factor D Deficiency

Sources for Complement Factor D Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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