MCID: FNC032
MIFTS: 41

Fanconi Anemia, Complementation Group B

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group B

MalaCards integrated aliases for Fanconi Anemia, Complementation Group B:

Name: Fanconi Anemia, Complementation Group B 57 29 13 6 40 73
Fancb 57 12 75
Fa2 57 12 75
Fanconi Anemia Complementation Group B 12 75
Fanconi Pancytopenia Type 2 12 75
Facb 57 12
Fanconi Pancytopenia, Type 2; Fa2 57
Fanconi Pancytopenia, Type 2 57

Characteristics:

HPO:

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


Classifications:



Summaries for Fanconi Anemia, Complementation Group B

OMIM : 57 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H, for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia (McCauley et al., 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (300514)

MalaCards based summary : Fanconi Anemia, Complementation Group B, also known as fancb, is related to fanconi anemia, complementation group a and deficiency anemia. An important gene associated with Fanconi Anemia, Complementation Group B is FANCB (FA Complementation Group B), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Peginterferon alfa-2a and Ribavirin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung, and related phenotypes are low-set ears and abnormal vertebral morphology

UniProtKB/Swiss-Prot : 75 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.

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

Related Diseases for Fanconi Anemia, Complementation Group B

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group B

Diseases related to Fanconi Anemia, Complementation Group B via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group a 24.4 FANCA FANCB FANCC FANCD2 FANCE FANCF
2 deficiency anemia 8.5 FANCA FANCC FANCD2 FANCG
3 fanconi anemia, complementation group f 8.0 FANCA FANCC FANCD2 FANCF FANCG
4 squamous cell carcinoma, head and neck 8.0 FANCA FANCE FANCF FANCL
5 fanconi anemia, complementation group e 7.6 FANCA FANCC FANCD2 FANCE FANCF FANCG
6 congenital hypoplastic anemia 6.6 FANCA FANCC FANCD2 FANCE FANCF FANCG
7 tracheoesophageal fistula 6.3 FANCA FANCB FANCC FANCD2 FANCE FANCF

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)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 abnormal vertebral morphology 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 occasional (7.5%) HP:0002575
8 abnormal lung lobation 32 occasional (7.5%) 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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.73 FANCC FANCF FANCL
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.73 FANCC FANCF FANCL
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 FANCA FANCB FANCC FANCD2 FANCF FANCG
2 endocrine/exocrine gland MP:0005379 9.5 FANCL FANCA FANCB FANCC FANCD2 FANCF
3 reproductive system MP:0005389 9.17 FANCA FANCB FANCC FANCD2 FANCF FANCG

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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 TMC435;Ribavirin (R);PegIFNα-2a (P);Placebo
2 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 Placebo
3 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 Placebo
4 DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Recruiting NCT03177018 Not Applicable

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:

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

Anatomical Context for Fanconi Anemia, Complementation Group B

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

41
Bone, Bone Marrow, Lung

Publications for Fanconi Anemia, Complementation Group B

Articles related to Fanconi Anemia, Complementation Group B:

# 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
# 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:

# 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)
# 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 protein-containing complex assembly GO:0065003 9.51 FANCA FANCC
4 cellular response to oxidative stress GO:0034599 9.49 FANCC FANCD2
5 regulation of inflammatory response GO:0050727 9.48 FANCA FANCD2
6 regulation of 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 9.43 FANCC FANCD2 FANCL
9 brain morphogenesis GO:0048854 9.4 FANCC FANCD2
10 regulation of regulatory T cell differentiation GO:0045589 9.37 FANCA FANCD2
11 regulation of CD40 signaling pathway GO:2000348 9.32 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
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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