CFDD
MCID: CMP041
MIFTS: 24

Complement Factor D Deficiency (CFDD)

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

Aliases & Classifications for Complement Factor D Deficiency

MalaCards integrated aliases for Complement Factor D Deficiency:

Name: Complement Factor D Deficiency 57 73 29 13 6 71
Factor D Deficiency 57 73
Cfdd 57 73
Recurrent Neisseria Infections Due to Factor D Deficiency 58
Deficiency, Complement Factor D 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

31
complement factor d deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 613912
MeSH 44 D007154
ICD10 via Orphanet 33 D84.1
UMLS via Orphanet 72 C0398764
Orphanet 58 ORPHA169467
SNOMED-CT via HPO 68 24743004 258211005 428875002
UMLS 71 C0398764

Summaries for Complement Factor D 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 05-Mar-2021)

MalaCards based summary : Complement Factor D Deficiency, also known as factor d deficiency, is related to proteinuria, chronic benign and glomerulonephritis. An important gene associated with Complement Factor D Deficiency is CFD (Complement Factor D). Related phenotypes are recurrent bacterial infections and complement deficiency

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

Wikipedia : 74 Factor D (EC 3.4.21.46, C3 proactivator convertase, properdin factor D esterase, factor D (complement),... more...

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 proteinuria, chronic benign 10.0
2 glomerulonephritis 10.0
3 immune-complex glomerulonephritis 10.0
4 neisseria meningitidis infection 10.0
5 toxic shock syndrome 9.8
6 meningococcal infection 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:

31
# Description HPO Frequency HPO Source Accession
1 recurrent bacterial infections 31 HP:0002718
2 complement deficiency 31 HP:0004431

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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 Complement Factor D Deficiency 29 CFD

Anatomical Context for Complement Factor D Deficiency

Publications for Complement Factor D Deficiency

Articles related to Complement Factor D Deficiency:

(show all 12)
# Title Authors PMID Year
1
A family with complement factor D deficiency. 6 57 61
11457876 2001
2
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. 6 57
16527897 2006
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
A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway. 61
29522842 2018
6
Disconfirming contamination-related threat beliefs by exposure plus safety behavior. 61
27888747 2017
7
The DRE motif is a key component in the expression regulation of the importin-beta encoding Ketel gene in Drosophila. 61
18656533 2008
8
Mesangial immune complex glomerulonephritis due to complement factor D deficiency. 61
17410102 2007
9
Effects of complement factor D deficiency on the renal disease of MRL/lpr mice. 61
14675043 2004
10
Complement factor D deficiency in an infant first seen with pneumococcal neonatal sepsis. 61
9847449 1998
11
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. 61
9278447 1997
12
Binding isotherms by continuous-flow dynamic dialysis. 61
16867582 1986

Variations for Complement Factor D Deficiency

ClinVar genetic disease variations for Complement Factor D Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFD NM_001928.4(CFD):c.125C>A (p.Ser42Ter) SNV Pathogenic 16564 rs104894667 19:860686-860686 19:860686-860686
2 CFD NM_001928.4(CFD):c.638T>G (p.Val213Gly) SNV Pathogenic 16565 rs267606720 19:863114-863114 19:863114-863114
3 CFD NM_001928.4(CFD):c.463A>G (p.Ile155Val) SNV Uncertain significance 625914 rs373019471 19:861804-861804 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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