CFBD
MCID: CMP063
MIFTS: 18

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 58 76 30 6 74
Factor B Deficiency 76 74
Cfbd 58 76
Deficiency, Complement Factor B 41
Complement Factor B 13

Classifications:



External Ids:

OMIM 58 615561
MeSH 45 D007154
SNOMED-CT via HPO 70 233604007 48661000

Summaries for Complement Factor B Deficiency

UniProtKB/Swiss-Prot : 76 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 melioidosis and macular degeneration, age-related, 1. An important gene associated with Complement Factor B Deficiency is CFB (Complement Factor B). Affiliated tissues include b cells, and related phenotypes are pneumonia and peritonitis

Description from OMIM: 615561

Related Diseases for Complement Factor B Deficiency

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:

33
# Description HPO Frequency HPO Source Accession
1 pneumonia 33 HP:0002090
2 peritonitis 33 HP:0002586
3 decreased serum complement factor b 33 HP:0005416
4 recurrent meningococcal disease 33 HP:0005381

Clinical features from OMIM:

615561

Drugs & Therapeutics for Complement Factor B Deficiency

Search Clinical Trials , 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 30 CFB

Anatomical Context for Complement Factor B Deficiency

MalaCards organs/tissues related to Complement Factor B Deficiency:

42
B Cells

Publications for Complement Factor B Deficiency

Articles related to Complement Factor B Deficiency:

# Title Authors Year
1
Deficiency in complement factor B. ( 24152280 )
2013
2
Deuterohemophilia: plasma thromboplastin factor B deficiency: plasma thromboplastin component (PTC) deficiency, Christmas disease, hemophilia B. ( 13126195 )
1954

Variations for Complement Factor B Deficiency

ClinVar genetic disease variations for Complement Factor B Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFB NM_001710.5(CFB): c.766C> T (p.Gln256Ter) single nucleotide variant Pathogenic rs398123065 GRCh37 Chromosome 6, 31915727: 31915727
2 CFB NM_001710.5(CFB): c.766C> T (p.Gln256Ter) single nucleotide variant Pathogenic rs398123065 GRCh38 Chromosome 6, 31947950: 31947950
3 CFB NM_001710.5(CFB): c.1894_1897delTTTG (p.Phe632Cysfs) deletion Pathogenic rs398124644 GRCh37 Chromosome 6, 31918959: 31918962
4 CFB NM_001710.5(CFB): c.1894_1897delTTTG (p.Phe632Cysfs) deletion Pathogenic rs398124644 GRCh38 Chromosome 6, 31951182: 31951185
5 C2; CFB NM_001710.5(CFB): c.1598A> G (p.Lys533Arg) single nucleotide variant Benign/Likely benign rs149101394 GRCh37 Chromosome 6, 31918154: 31918154
6 C2; CFB NM_001710.5(CFB): c.1598A> G (p.Lys533Arg) single nucleotide variant Benign/Likely benign rs149101394 GRCh38 Chromosome 6, 31950377: 31950377
7 CFB NM_001710.5(CFB): c.1697A> C (p.Glu566Ala) single nucleotide variant Likely benign rs45484591 GRCh37 Chromosome 6, 31918468: 31918468
8 CFB NM_001710.5(CFB): c.1697A> C (p.Glu566Ala) single nucleotide variant Likely benign rs45484591 GRCh38 Chromosome 6, 31950691: 31950691

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
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
Content
Loading form....