CFBD
MCID: CMP063
MIFTS: 31

Complement Factor B Deficiency (CFBD)

Categories: Genetic diseases

Aliases & Classifications for Complement Factor B Deficiency

MalaCards integrated aliases for Complement Factor B Deficiency:

Name: Complement Factor B Deficiency 56 73 29 6 71
Factor B Deficiency 73 71
Cfbd 56 73
Deficiency, Complement Factor B 39

Classifications:



External Ids:

OMIM 56 615561
MeSH 43 D007154
SNOMED-CT via HPO 68 233604007 48661000
UMLS 71 C0398763 C3809950

Summaries for Complement Factor B Deficiency

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

MalaCards based summary : Complement Factor B Deficiency, also known as factor b deficiency, is related to hemophilia b and pulmonary hypertension. An important gene associated with Complement Factor B Deficiency is CFB (Complement Factor B), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Affiliated tissues include bone, lung and skin, and related phenotypes are pneumonia and peritonitis

More information from OMIM: 615561

Related Diseases for Complement Factor B Deficiency

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 hemophilia b 9.7
2 pulmonary hypertension 9.7
3 hemophilia 9.7
4 macular degeneration, age-related, 1 9.6 CFB C2
5 macular degeneration, age-related, 14 9.6 CFB C2
6 retinal drusen 9.6 CFB C2
7 complement component 2 deficiency 9.6 CFB C2
8 complement deficiency 9.6 CFB C2
9 degeneration of macula and posterior pole 9.5 CFB C2
10 hemolytic-uremic syndrome 9.5 CFB C2
11 retinal disease 9.4 CFB C2
12 eye disease 9.2 CFB C2

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



Diseases related to Complement Factor B Deficiency

Symptoms & Phenotypes for Complement Factor B Deficiency

Human phenotypes related to Complement Factor B Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 pneumonia 31 HP:0002090
2 peritonitis 31 HP:0002586
3 decreased serum complement factor b 31 HP:0005416
4 recurrent meningococcal disease 31 HP:0005381

Clinical features from OMIM:

615561

GenomeRNAi Phenotypes related to Complement Factor B Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTTG1-/- and PTTG1+/+ GR00255-A-4 8.62 C2 CFB

Drugs & Therapeutics for Complement Factor B Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study Evaluating the Effects of Estradiol for Hypogonadal Women With Cystic Fibrosis and Osteopenia Withdrawn NCT03724955 Phase 4 Estradiol 2 mg

Search NIH Clinical Center for Complement Factor B Deficiency

Genetic Tests for Complement Factor B Deficiency

Genetic tests related to Complement Factor B Deficiency:

# Genetic test Affiliating Genes
1 Complement Factor B Deficiency 29 CFB

Anatomical Context for Complement Factor B Deficiency

MalaCards organs/tissues related to Complement Factor B Deficiency:

40
Bone, Lung, Skin, Eye

Publications for Complement Factor B Deficiency

Articles related to Complement Factor B Deficiency:

(show all 21)
# Title Authors PMID Year
1
Deficiency in complement factor B. 56 6
24152280 2013
2
[Properdin factor B: polymorphism, synthesis site and first case of genetic deficiency]. 56
6898304 1980
3
Inhibition of aflatoxin B1 biosynthesis and down regulation of aflR and aflB genes in presence of benzimidazole derivatives without impairing the growth of Aspergillus flavus. 61
31541640 2019
4
Cystic fibrosis bone disease: Pathophysiology, assessment and prognostic implications. 61
31679729 2019
5
Cystic fibrosis bone disease treatment: Current knowledge and future directions. 61
31679730 2019
6
Bone involvement in young adults with cystic fibrosis awaiting lung transplantation for end-stage respiratory failure. 61
30798331 2019
7
Markers of bone turnover are reduced in patients with CF related diabetes; the role of glucose. 61
30928333 2019
8
Evaluation of bone disease in patients with cystic fibrosis and end-stage lung disease. 61
30843951 2019
9
Expression, Purification, and Activity Analysis of Chlorophyllide Oxidoreductase and Ni2+-Sirohydrochlorin a,c-Diamide Reductase. 61
30317478 2019
10
Enzymatic Systems with Homology to Nitrogenase: Biosynthesis of Bacteriochlorophyll and Coenzyme F430. 61
30317472 2019
11
Bone mineral density, lung function, vitamin D and body composition in children and adolescents with cystic fibrosis: a multicenter study. 61
30070865 2018
12
Children and adolescents with cystic fibrosis display moderate bone microarchitecture abnormalities: data from high-resolution peripheral quantitative computed tomography. 61
28795206 2017
13
Impaired rib bone mass and quality in end-stage cystic fibrosis patients. 61
28254466 2017
14
Overexpression of RANKL in osteoblasts: a possible mechanism of susceptibility to bone disease in cystic fibrosis. 61
27235726 2016
15
[Insights into cystic fibrosis-related bone disease]. 61
27345551 2016
16
Bone disease in cystic fibrosis: new pathogenic insights opening novel therapies. 61
26431978 2016
17
A novel defensin-like antimicrobial peptide from the skin secretions of the tree frog, Theloderma kwangsiensis. 61
26456194 2016
18
The first anionic defensin from amphibians. 61
25792112 2015
19
Cystic fibrosis-related bone disease: insights into a growing problem. 61
24468756 2013
20
Osteoblast CFTR inactivation reduces differentiation and osteoprotegerin expression in a mouse model of cystic fibrosis-related bone disease. 61
24236172 2013
21
The first salamander defensin antimicrobial peptide. 61
24386139 2013

Variations for Complement Factor B Deficiency

ClinVar genetic disease variations for Complement Factor B Deficiency:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFB NM_001710.5(CFB):c.766C>T (p.Gln256Ter)SNV Pathogenic 92246 rs398123065 6:31915727-31915727 6:31947950-31947950
2 CFB NM_001710.5(CFB):c.1895_1898del (p.Phe632fs)deletion Pathogenic 92247 rs398124644 6:31918957-31918960 6:31951180-31951183
3 CFB NM_001710.5(CFB):c.1697A>C (p.Glu566Ala)SNV Likely benign 225314 rs45484591 6:31918468-31918468 6:31950691-31950691
4 C2 , CFB NM_001710.5(CFB):c.1598A>G (p.Lys533Arg)SNV Benign/Likely benign 225313 rs149101394 6:31918154-31918154 6:31950377-31950377

Expression for Complement Factor B Deficiency

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

Pathways for Complement Factor B Deficiency

Pathways related to Complement Factor B Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.48 CFB C2
2 11.42 CFB C2
3
Show member pathways
11.28 CFB C2
4
Show member pathways
10.98 CFB C2
5 10.61 CFB C2

GO Terms for Complement Factor B Deficiency

Biological processes related to Complement Factor B Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.26 CFB C2
2 innate immune response GO:0045087 9.16 CFB C2
3 regulation of complement activation GO:0030449 8.96 CFB C2
4 complement activation GO:0006956 8.62 CFB C2

Molecular functions related to Complement Factor B Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.16 CFB C2
2 serine-type endopeptidase activity GO:0004252 8.96 CFB C2
3 serine-type peptidase activity GO:0008236 8.62 CFB C2

Sources for Complement Factor B Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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