CFDD
MCID: CMP041
MIFTS: 24

Complement Factor D Deficiency (CFDD)

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

Aliases & Classifications for Complement Factor D Deficiency

MalaCards integrated aliases for Complement Factor D Deficiency:

Name: Complement Factor D Deficiency 58 76 30 13 6 74
Factor D Deficiency 58 76
Cfdd 58 76
Recurrent Neisseria Infections Due to Factor D Deficiency 60
Deficiency, Complement Factor D 41
Complement Factor D 13

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

33
complement factor d deficiency:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 613912
MeSH 45 D007154
ICD10 via Orphanet 35 D84.1
UMLS via Orphanet 75 C0398764
Orphanet 60 ORPHA169467
SNOMED-CT via HPO 70 24743004 258211005 428875002
UMLS 74 C0398764

Summaries for Complement Factor D Deficiency

OMIM : 58 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)

MalaCards based summary : Complement Factor D Deficiency, also known as factor d deficiency, is related to lung cancer and cervical squamous cell carcinoma. An important gene associated with Complement Factor D Deficiency is CFD (Complement Factor D). Affiliated tissues include lung and kidney, and related phenotypes are recurrent bacterial infections and complement deficiency

UniProtKB/Swiss-Prot : 76 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.

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 lung cancer 10.5
2 cervical squamous cell carcinoma 10.5
3 polycystic kidney disease 10.5
4 glomerulonephritis 9.9
5 immune-complex glomerulonephritis 9.9
6 macular degeneration, age-related, 1 9.8
7 uremia 9.8
8 meningococcal infection 9.7

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:

33
# Description HPO Frequency HPO Source Accession
1 recurrent bacterial infections 33 HP:0002718
2 complement deficiency 33 HP:0004431

Symptoms via clinical synopsis from OMIM:

58
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

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 30 CFD

Anatomical Context for Complement Factor D Deficiency

MalaCards organs/tissues related to Complement Factor D Deficiency:

42
Lung, Kidney

Publications for Complement Factor D Deficiency

Articles related to Complement Factor D Deficiency:

# Title Authors Year
1
A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway. ( 29522842 )
2018
2
Mesangial immune complex glomerulonephritis due to complement factor D deficiency. ( 17410102 )
2007
3
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. ( 16527897 )
2006
4
Effects of complement factor D deficiency on the renal disease of MRL/lpr mice. ( 14675043 )
2004
5
A family with complement factor D deficiency. ( 11457876 )
2001
6
Complement factor D deficiency in an infant first seen with pneumococcal neonatal sepsis. ( 9847449 )
1998
7
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. ( 9278447 )
1997

Variations for Complement Factor D Deficiency

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

76
# Symbol AA change Variation ID SNP ID
1 CFD p.Val213Gly VAR_034866 rs267606720
2 CFD p.Cys214Arg VAR_034867 rs267606721

ClinVar genetic disease variations for Complement Factor D Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFD NM_001928.3(CFD): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic rs104894667 GRCh37 Chromosome 19, 860686: 860686
2 CFD NM_001928.3(CFD): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic rs104894667 GRCh38 Chromosome 19, 860686: 860686
3 CFD NM_001928.3(CFD): c.638T> G (p.Val213Gly) single nucleotide variant no interpretation for the single variant rs267606720 GRCh37 Chromosome 19, 863114: 863114
4 CFD NM_001928.3(CFD): c.638T> G (p.Val213Gly) single nucleotide variant no interpretation for the single variant rs267606720 GRCh38 Chromosome 19, 863114: 863114
5 CFD NM_001928.3(CFD): c.640T> C (p.Cys214Arg) single nucleotide variant no interpretation for the single variant rs267606721 GRCh37 Chromosome 19, 863116: 863116
6 CFD NM_001928.3(CFD): c.640T> C (p.Cys214Arg) single nucleotide variant no interpretation for the single variant rs267606721 GRCh38 Chromosome 19, 863116: 863116
7 CFD NM_001928.3(CFD): c.463A> G (p.Ile155Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 861804: 861804
8 CFD NM_001928.3(CFD): c.463A> G (p.Ile155Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 861804: 861804

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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