MCID: CMP041
MIFTS: 23

Complement Factor D Deficiency

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Complement Factor D Deficiency

MalaCards integrated aliases for Complement Factor D Deficiency:

Name: Complement Factor D Deficiency 57 75 29 13 6 73
Factor D Deficiency 57 75
Cfdd 57 75
Recurrent Neisseria Infections Due to Factor D Deficiency 59
Deficiency, Complement Factor D 40
Complement Factor D 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

32
complement factor d deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 613912
Orphanet 59 ORPHA169467
UMLS via Orphanet 74 C0398764
ICD10 via Orphanet 34 D84.1
MeSH 44 D007154
SNOMED-CT via HPO 69 258211005 428875002 24743004
UMLS 73 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)

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). Related phenotypes are recurrent bacterial infections and complement deficiency

UniProtKB/Swiss-Prot : 75 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 10.3
2 cervical squamous cell carcinoma 10.3
3 polycystic kidney disease 10.3
4 glomerulonephritis 9.7
5 immune-complex glomerulonephritis 9.7
6 macular degeneration, age-related, 1 9.6
7 peritonitis 9.6

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Complement Factor D Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 recurrent bacterial infections 32 HP:0002718
2 complement deficiency 32 HP:0004431

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:

# 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
Effects of complement factor D deficiency on the renal disease of MRL/lpr mice. ( 14675043 )
2004
4
A family with complement factor D deficiency. ( 11457876 )
2001
5
Complement factor D deficiency in an infant first seen with pneumococcal neonatal sepsis. ( 9847449 )
1998

Variations for Complement Factor D Deficiency

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

75
# 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

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 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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