CFBD
MCID: CMP063
MIFTS: 23

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 57 74 29 6 72
Factor B Deficiency 74 72
Cfbd 57 74
Deficiency, Complement Factor B 40

Classifications:



External Ids:

OMIM 57 615561
MeSH 44 D007154
UMLS 72 C0398763 C3809950

Summaries for Complement Factor B Deficiency

UniProtKB/Swiss-Prot : 74 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). 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:

# Related Disease Score Top Affiliating Genes
1 hemophilia b 9.6
2 pulmonary hypertension 9.6
3 hemophilia 9.6

Symptoms & Phenotypes for Complement Factor B Deficiency

Human phenotypes related to Complement Factor B Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 pneumonia 32 HP:0002090
2 peritonitis 32 HP:0002586
3 decreased serum complement factor b 32 HP:0005416
4 recurrent meningococcal disease 32 HP:0005381

Clinical features from OMIM:

615561

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1 Pilot Study Evaluating the Effects of Estradiol for Hypogonadal Women With Cystic Fibrosis and Osteopenia Withdrawn NCT03724955 Phase 4 Estradiol 2 mg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:

41
Bone, Lung, Skin

Publications for Complement Factor B Deficiency

Articles related to Complement Factor B Deficiency:

(show all 18)
# Title Authors PMID Year
1
Deficiency in complement factor B. 8 71
24152280 2013
2
[Properdin factor B: polymorphism, synthesis site and first case of genetic deficiency]. 8
6898304 1980
3
Bone involvement in young adults with cystic fibrosis awaiting lung transplantation for end-stage respiratory failure. 38
30798331 2019
4
Markers of bone turnover are reduced in patients with CF related diabetes; the role of glucose. 38
30928333 2019
5
Evaluation of bone disease in patients with cystic fibrosis and end-stage lung disease. 38
30843951 2019
6
Enzymatic Systems with Homology to Nitrogenase: Biosynthesis of Bacteriochlorophyll and Coenzyme F430. 38
30317472 2019
7
Expression, Purification, and Activity Analysis of Chlorophyllide Oxidoreductase and Ni2+-Sirohydrochlorin a,c-Diamide Reductase. 38
30317478 2019
8
Bone mineral density, lung function, vitamin D and body composition in children and adolescents with cystic fibrosis: a multicenter study. 38
30070865 2018
9
Children and adolescents with cystic fibrosis display moderate bone microarchitecture abnormalities: data from high-resolution peripheral quantitative computed tomography. 38
28795206 2017
10
Impaired rib bone mass and quality in end-stage cystic fibrosis patients. 38
28254466 2017
11
Overexpression of RANKL in osteoblasts: a possible mechanism of susceptibility to bone disease in cystic fibrosis. 38
27235726 2016
12
[Insights into cystic fibrosis-related bone disease]. 38
27345551 2016
13
Bone disease in cystic fibrosis: new pathogenic insights opening novel therapies. 38
26431978 2016
14
A novel defensin-like antimicrobial peptide from the skin secretions of the tree frog, Theloderma kwangsiensis. 38
26456194 2016
15
The first anionic defensin from amphibians. 38
25792112 2015
16
Cystic fibrosis-related bone disease: insights into a growing problem. 38
24468756 2013
17
Osteoblast CFTR inactivation reduces differentiation and osteoprotegerin expression in a mouse model of cystic fibrosis-related bone disease. 38
24236172 2013
18
The first salamander defensin antimicrobial peptide. 38
24386139 2013

Variations for Complement Factor B Deficiency

ClinVar genetic disease variations for Complement Factor B Deficiency:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CFB NM_001710.5(CFB): c.766C> T (p.Gln256Ter) single nucleotide variant Pathogenic rs398123065 6:31915727-31915727 6:31947950-31947950
2 CFB NM_001710.5(CFB): c.1895_1898del (p.Phe632fs) deletion Pathogenic rs398124644 6:31918959-31918962 6:31951182-31951185
3 CFB NM_001710.5(CFB): c.1697A> C (p.Glu566Ala) single nucleotide variant Likely benign rs45484591 6:31918468-31918468 6:31950691-31950691
4 C2 ; CFB NM_001710.5(CFB): c.1598A> G (p.Lys533Arg) single nucleotide variant Benign/Likely benign 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

GO Terms for Complement Factor B Deficiency

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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