FANCB
MCID: FNC032
MIFTS: 43

Fanconi Anemia, Complementation Group B (FANCB) malady

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group B

Aliases & Descriptions for Fanconi Anemia, Complementation Group B:

Name: Fanconi Anemia, Complementation Group B 54 13 69
Fanconi Anemia Complementation Group B 12 66 29
Fanconi Pancytopenia Type 2 12 66
Fancb 12 66
Fa2 12 66
Facb 12

Characteristics:

HPO:

32
fanconi anemia, complementation group b:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300514
Disease Ontology 12 DOID:0111098
MedGen 40 C1845292
MeSH 42 D005199

Summaries for Fanconi Anemia, Complementation Group B

OMIM : 54 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability.... (300514) more...

MalaCards based summary : Fanconi Anemia, Complementation Group B, also known as fanconi anemia complementation group b, is related to vacterl with hydrocephalus, fancb-related and fancb-related fanconi anemia, and has symptoms including low-set ears, abnormality of the vertebrae and anemia. An important gene associated with Fanconi Anemia, Complementation Group B is FANCB (Fanconi Anemia Complementation Group B), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Ribavirin and Peginterferon alfa-2a have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung, and related phenotypes are Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization and cellular

Disease Ontology : 12 A Fanconi anemia that has material basis in mutation in the FANCB gene on chromosome Xp22.

UniProtKB/Swiss-Prot : 66 Fanconi anemia complementation group B: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus.

Related Diseases for Fanconi Anemia, Complementation Group B

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group B:



Diseases related to Fanconi Anemia, Complementation Group B

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group B

Clinical features from OMIM:

300514

Human phenotypes related to Fanconi Anemia, Complementation Group B:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 abnormality of the vertebrae 32 HP:0003468
3 anemia 32 HP:0001903
4 growth delay 32 HP:0001510
5 ventriculomegaly 32 HP:0002119
6 abnormality of chromosome stability 32 HP:0003220
7 tracheoesophageal fistula 32 HP:0002575
8 abnormal lung lobation 32 HP:0002101
9 renal agenesis 32 HP:0000104
10 absent radius 32 HP:0003974
11 absent thumb 32 HP:0009777

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.73 FANCL FANCC FANCF
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.73 FANCL FANCC FANCF
3 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.33 FANCC FANCF FANCL
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.17 FANCA FANCC FANCD2 FANCE FANCF FANCG

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group B:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.63 FANCC FANCD2 FANCG FANCL FANCA FANCB
2 endocrine/exocrine gland MP:0005379 9.43 FANCA FANCB FANCC FANCD2 FANCG FANCL
3 reproductive system MP:0005389 9.1 FANCA FANCB FANCC FANCD2 FANCG FANCL

Drugs & Therapeutics for Fanconi Anemia, Complementation Group B

Drugs for Fanconi Anemia, Complementation Group B (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 2 36791-04-5 37542
2
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
3
Simeprevir Approved Phase 2 923604-59-5 66576988
4 interferons Phase 2
5
protease inhibitors Phase 2
6 HIV Protease Inhibitors Phase 2
7 Anti-Infective Agents Phase 2
8 Antimetabolites Phase 2
9 Antiviral Agents Phase 2
10 Talazoparib Phase 2
11 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
12 Vaccines Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of TMC435 in Combination With Pegylated Interferon Alp\Fa-2a and Ribavirin in Patients Infected With Genotype 1 Hepatitis C Virus Who Never Received Treatment Completed NCT00882908 Phase 2
2 Talazoparib Beyond BRCA (TBB) Trial Recruiting NCT02401347 Phase 2
3 A Study to Evaluate the Safety, Tolerability and Immunogenicity of Ad26.RSV.FA2 Followed by Ad35.RSV.FA2 in Healthy Adult Volunteers Completed NCT02561871 Phase 1
4 A Study to Evaluate the Safety, Tolerability and Immunogenicity of Ad35.RSV.FA2 Regimens Boosted With Ad26.RSV.FA2 in Healthy Adult Participants Completed NCT02440035 Phase 1
5 DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Recruiting NCT03177018

Search NIH Clinical Center for Fanconi Anemia, Complementation Group B

Genetic Tests for Fanconi Anemia, Complementation Group B

Genetic tests related to Fanconi Anemia, Complementation Group B:

id Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group B 29

Anatomical Context for Fanconi Anemia, Complementation Group B

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group B:

39
Bone, Bone Marrow, Lung

Publications for Fanconi Anemia, Complementation Group B

Articles related to Fanconi Anemia, Complementation Group B:

id Title Authors Year
1
X-linked inheritance of Fanconi anemia complementation group B. ( 15502827 )
2004

Variations for Fanconi Anemia, Complementation Group B

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group B:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FANCB FANCB, 1-BP INS, 1838T insertion Pathogenic
2 FANCB FANCB, 3314-BP DEL deletion Pathogenic
3 FANCB FANCB, 1-BP DEL, 1650T deletion Pathogenic
4 FANCB FANCB, 1-BP INS, 811T insertion Pathogenic
5 FANCB FANCB, IVS7DS, G-A, +5 single nucleotide variant Pathogenic
6 FANCB FANCB, LEU717TER single nucleotide variant Pathogenic
7 FANCB FANCB, 2-BP DEL, 1857AG deletion Pathogenic

Expression for Fanconi Anemia, Complementation Group B

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group B.

Pathways for Fanconi Anemia, Complementation Group B

GO Terms for Fanconi Anemia, Complementation Group B

Cellular components related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.76 FANCA FANCB FANCC FANCD2 FANCE FANCF
2 nucleoplasm GO:0005654 9.56 FANCA FANCB FANCC FANCD2 FANCE FANCF
3 Fanconi anaemia nuclear complex GO:0043240 9.17 FANCA FANCB FANCC FANCE FANCF FANCG

Biological processes related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.76 FANCA FANCB FANCC FANCD2 FANCE FANCF
2 DNA repair GO:0006281 9.56 FANCA FANCB FANCC FANCD2 FANCE FANCF
3 cellular response to oxidative stress GO:0034599 9.51 FANCC FANCD2
4 regulation of inflammatory response GO:0050727 9.49 FANCA FANCD2
5 ovarian follicle development GO:0001541 9.48 FANCF FANCG
6 regulation of sequence-specific DNA binding transcription factor activity GO:0051090 9.46 FANCA FANCD2
7 neuronal stem cell population maintenance GO:0097150 9.43 FANCC FANCD2
8 gamete generation GO:0007276 9.4 FANCD2 FANCL
9 brain morphogenesis GO:0048854 9.37 FANCC FANCD2
10 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCA FANCD2
11 regulation of CD40 signaling pathway GO:2000348 9.26 FANCA FANCD2
12 interstrand cross-link repair GO:0036297 9.23 FANCA FANCB FANCC FANCD2 FANCE FANCF

Sources for Fanconi Anemia, Complementation Group B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....