MCID: CMP063
MIFTS: 20

Complement Factor B Deficiency

Categories: Genetic diseases

Aliases & Classifications for Complement Factor B Deficiency

MalaCards integrated aliases for Complement Factor B Deficiency:

Name: Complement Factor B Deficiency 57 75 29 6 73
Factor B Deficiency 75 73
Cfbd 57 75
Deficiency, Complement Factor B 40
Complement Factor B 13

Classifications:



External Ids:

OMIM 57 615561
MeSH 44 D007154
SNOMED-CT via HPO 69 233604007 48661000

Summaries for Complement Factor B Deficiency

UniProtKB/Swiss-Prot : 75 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 aging. An important gene associated with Complement Factor B Deficiency is CFB (Complement Factor B). Affiliated tissues include endothelial, and related phenotypes are pneumonia and peritonitis

Description 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 22)
# Related Disease Score Top Affiliating Genes
1 melioidosis 10.3
2 aging 10.1
3 macular degeneration, age-related, 1 10.1
4 hemolytic uremic syndrome, atypical 1 10.0
5 hemolytic-uremic syndrome 10.0
6 glomerulonephritis 9.8
7 retinitis 9.8
8 c3 glomerulopathy 9.8
9 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.6
10 nasopharyngeal carcinoma 9.6
11 pancreatic ductal adenocarcinoma 9.6
12 inflammatory bowel disease 9.6
13 mucositis 9.6
14 nasopharyngitis 9.6
15 choroiditis 9.6
16 adenocarcinoma 9.6
17 cerebritis 9.6
18 pancreatitis 9.6
19 hemophilia b 9.5
20 pulmonary hypertension 9.5
21 hemophilia 9.5
22 endotheliitis 9.5

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

Clinical features from OMIM:

615561

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 recurrent meningococcal disease 32 HP:0005381
4 decreased serum complement factor b 32 HP:0005416

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 29 CFB

Anatomical Context for Complement Factor B Deficiency

MalaCards organs/tissues related to Complement Factor B Deficiency:

41
Endothelial

Publications for Complement Factor B Deficiency

Articles related to Complement Factor B Deficiency:

# Title Authors Year
1
Vascular endothelial growth factor-B-deficient mice show impaired development of hypoxic pulmonary hypertension. ( 12123775 )
2002
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 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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