Fanconi Anemia, Complementation Group B disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Fanconi Anemia, Complementation Group B

MalaCards integrated aliases for Fanconi Anemia, Complementation Group B:

Name: Fanconi Anemia, Complementation Group B ⁵³ ²⁸ ¹³ ⁶⁹

Fancb ⁵³ ¹² ⁷¹

Fa2 ⁵³ ¹² ⁷¹

Fanconi Anemia Complementation Group B ¹² ⁷¹

Fanconi Pancytopenia Type 2 ¹² ⁷¹

Facb ⁵³ ¹²

Fanconi Pancytopenia, Type 2; Fa2 ⁵³

Fanconi Pancytopenia, Type 2 ⁵³

Characteristics:

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵³ 300514

Disease Ontology ¹² DOID:0111098

MedGen ³⁹ C1845292

MeSH ⁴¹ D005199

SNOMED-CT via HPO ⁶⁵ 204942005 95515009 276617005 more

UMLS ⁶⁹ C1845292

Sources

Summaries for Fanconi Anemia, Complementation Group B

OMIM : ⁵³ 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, and has symptoms including low-set ears, abnormal vertebral morphology 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 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 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization and Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization

UniProtKB/Swiss-Prot : ⁷¹ 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.

Sources

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	26.5	FANCA FANCB FANCC FANCD2 FANCE FANCF
2	deficiency anemia	9.4	FANCA FANCC FANCD2
3	fanconi anemia, complementation group f	8.7	FANCA FANCC FANCD2 FANCF FANCG
4	squamous cell carcinoma, head and neck	8.6	FANCA FANCC FANCE FANCF FANCL
5	fanconi anemia, complementation group e	8.5	FANCA FANCC FANCD2 FANCE FANCF FANCG
6	congenital hypoplastic anemia	7.9	FANCA FANCC FANCD2 FANCE FANCF FANCG
7	tracheoesophageal fistula	7.7	FANCA FANCB FANCC FANCD2 FANCE FANCF

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

Sources

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group B

Clinical features from OMIM:

300514

Human phenotypes related to Fanconi Anemia, Complementation Group B:

³¹ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	low-set ears ³¹		HP:0000369
2	abnormal vertebral morphology ³¹		HP:0003468
3	anemia ³¹		HP:0001903
4	growth delay ³¹		HP:0001510
5	ventriculomegaly ³¹		HP:0002119
6	abnormality of chromosome stability ³¹		HP:0003220
7	tracheoesophageal fistula ³¹	occasional (7.5%)	HP:0002575
8	abnormal lung lobation ³¹	occasional (7.5%)	HP:0002101
9	renal agenesis ³¹		HP:0000104
10	absent radius ³¹		HP:0003974
11	absent thumb ³¹		HP:0009777

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

²⁵

#	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	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:

⁴³

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

Sources

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

Synonyms:

198153-51-4

D02747

Pegasys

Pegasys (TN)

Peginterferon alfa-2a

Peginterferon alfa-2a (genetical recombination)

Peginterferon alfa-2a (genetical recombination) (JAN)

Peginterferon alfa-2a (USAN/INN)

Pegylated interferon alfa-2a

Pegylated interferon alpha2a

2

Ribavirin

Approved

Phase 2

36791-04-5

37542

Synonyms:

1-.beta.-D-Ribofuranosyl-1,2,4-triazolo-3-carboxamide

1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,2,4-triazole-3-carboxamide

1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1H-1,2,4-triazole-3-carboxamide

1-beta-D-Ribofuranosyl-1,2,4-triazole-3-carboxamide

1-beta-D-ribofuranosyl-1-H-1,2,4-triazole-3-carboxamide

1-beta-D-Ribofuranosyl-1H-1,2,4-triazole-3-carboxamide

36791-04-5

437710-49-1

66510-90-5

AA-504/07617051

AB00430481

AC1L1XXZ

AC1Q1IDC

AC1Q4ZGS

AKOS001715163

BB_NC-0567

BPBio1_001195

BRN 0892462

BSPBio_001085

BSPBio_003352

CHEMBL1643

CID37542

Copegus

Copegus (TN)

Cotronak

C-Virin

D00423

DB00811

DivK1c_000782

DRG-0028

Drug: Ribavirin

EU-0101063

FT-0082885

HMS2090L15

HMS2094O09

HMS502H04

HSDB 6513

ICN-1229

IDI1_000782

KBio1_000782

KBio2_002328

KBio2_004896

KBio2_007464

KBio3_002854

KBioGR_001804

KBioSS_002331

KS-1104

Lopac0_001063

LS-1241

MLS000028486

MLS002222317

MolPort-002-507-104

MolPort-002-885-856

NCGC00090726-01

NCGC00090726-03

NCGC00090726-04

NCGC00090726-05

NCGC00090726-06

NCGC00090726-07

NINDS_000782

NSC 163039

NSC163039

Prestwick3_000993

R 9644

R-964

R9644_SIGMA

Ravanex

RBV

Rebetol

Rebetol (TN)

Rebetron

Rebretron

RG-964

Ribacine

Ribamide

Ribamidil

Ribamidyl

Ribasphere

Ribasphere (TN)

Ribav

RIBAV

ribavirin

Ribavirin

Ribavirin (JAN/USP/INN)

Ribavirin [USAN:INN]

Ribavirin Capsules

Ribavirin Triphosphate

Ribavirina

Ribavirina [INN-Spanish]

Ribavirine

Ribavirine [INN-French]

Ribavirin-TP

Ribavirinum

Ribavirinum [INN-Latin]

Ribovirin

Ro 20-9963/000

Ro-20-9963

RTC

RTCA

RTP

S2504_Selleck

SCH 18908

SMP1_000261

SMR000058315

Spectrum_001826

SPECTRUM1503938

Spectrum3_001876

Spectrum4_001252

Spectrum5_002075

SR-01000076112-3

Tribavirin

UNII-49717AWG6K

Varazid

Vilona

Viramid

Viramide

Virazid

Virazide

Virazole

Virazole (Ribavirin) Inhalation Solution

Virazole (TN)

Virazole 5'-triphosphate

ZINC01035331

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

Search NIH Clinical Center for Fanconi Anemia, Complementation Group B

Sources

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 ²⁸	FANCB

Sources

Anatomical Context for Fanconi Anemia, Complementation Group B

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

³⁸

Bone, Bone Marrow, Lung

Sources

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 )	Meetei A.R....Joenje H.	2004

Sources

Genes for Fanconi Anemia, Complementation Group B

Genes related to Fanconi Anemia, Complementation Group B (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	FANCB	Fanconi Anemia Complementation Group B	Protein Coding	1062.84	Molecular basis known ⁵³ Pathogenic ⁶ Genetic Tests ²⁸ GeneCards inferred via : Disorders Publications Gene name Summaries Transcripts (show sections)	15502827 20301575 20301753 (more) 16679491 21910217 8368240
2	FANCC	Fanconi Anemia Complementation Group C	Protein Coding	17.96	GeneCards inferred via : Publications (show sections)
3	FANCE	Fanconi Anemia Complementation Group E	Protein Coding	17.96	GeneCards inferred via : Publications (show sections)
4	FANCA	Fanconi Anemia Complementation Group A	Protein Coding	17.96	GeneCards inferred via : Publications (show sections)
5	FANCF	Fanconi Anemia Complementation Group F	Protein Coding	17.96	GeneCards inferred via : Publications (show sections)
6	FANCG	Fanconi Anemia Complementation Group G	Protein Coding	17.96	GeneCards inferred via : Publications (show sections)
7	FANCL	Fanconi Anemia Complementation Group L	Protein Coding	17.96	GeneCards inferred via : Publications (show sections)
8	FANCD2	Fanconi Anemia Complementation Group D2	Protein Coding	17.96	GeneCards inferred via : Publications (show sections)

Sources

Variations for Fanconi Anemia, Complementation Group B

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

⁶

#	Gene	Variation	Type	Significance
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

Sources

Expression for Fanconi Anemia, Complementation Group B

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

Sources

Pathways for Fanconi Anemia, Complementation Group B

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

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double-Strand Break Repair ⁶² Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶² DNA damage_DNA-damage-induced responses ²¹ DNA Repair ⁶² G2/M DNA damage checkpoint ⁶² HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶² HDR through MMEJ (alt-NHEJ) ⁶² Homology Directed Repair ⁶² Non-homologous end joining ¹ Non-homologous end-joining ³⁶ Processing of DNA double-strand break ends ⁶²	12.86	FANCA FANCB FANCC FANCD2 FANCE FANCF
2	Chks in Checkpoint Regulation ⁶⁰ Show member pathways DNA Repair Mechanisms ⁶⁰ Estrogen-mediated S-Phase Entry ⁶⁰ G2-M Phase Transition ⁶⁰ Parkinson's Disease Pathway ⁶⁰ SREBP Proteolysis ⁶⁰	12.41	FANCA FANCC FANCD2 FANCE FANCF FANCG
3	DNA Damage ⁴	12.05	FANCA FANCB FANCD2
4	Fanconi anemia pathway ⁶² ³⁶	11.74	FANCA FANCB FANCC FANCD2 FANCE FANCF
5	BRCA1 Pathway ⁶⁰ Show member pathways Fanconi's Anaemia Pathway ⁶⁰	11.09	FANCA FANCC FANCD2 FANCE FANCF FANCG
6	DNA damage_ATM/ATR regulation of G1/S checkpoint ²¹	11.01	FANCD2 FANCL
7	BARD1 signaling events ¹	10.96	FANCA FANCC FANCD2 FANCE FANCF FANCG

Sources

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 11)

#	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	9.49	FANCC FANCD2
4	regulation of inflammatory response	GO:0050727	9.48	FANCA FANCD2
5	regulation of DNA binding transcription factor activity	GO:0051090	9.46	FANCA FANCD2
6	neuronal stem cell population maintenance	GO:0097150	9.43	FANCC FANCD2
7	gamete generation	GO:0007276	9.43	FANCC FANCD2 FANCL
8	brain morphogenesis	GO:0048854	9.4	FANCC FANCD2
9	regulation of regulatory T cell differentiation	GO:0045589	9.37	FANCA FANCD2
10	regulation of CD40 signaling pathway	GO:2000348	9.32	FANCA FANCD2
11	interstrand cross-link repair	GO:0036297	9.23	FANCA FANCB FANCC FANCD2 FANCE FANCF

Sources

Sources for Fanconi Anemia, Complementation Group B

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ Genetics Home Reference

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HGMD

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ MalaCards

³⁹ MedGen

⁴⁰ MedlinePlus

⁴¹ MeSH

⁴² MESH via Orphanet

⁴³ MGI

⁴⁴ NCBI Bookshelf

⁴⁵ NCI

⁴⁶ NCIt

⁴⁷ NDF-RT

⁴⁸ NIH Clinical Center

⁴⁹ NIH Rare Diseases

⁵⁰ NINDS

⁵¹ Novoseek

⁵² Novus Biologicals

⁵³ OMIM

⁵⁴ OMIM via Orphanet

⁵⁵ Orphanet

⁵⁶ PathCards

⁵⁷ PharmGKB

⁵⁸ PubMed

⁵⁹ PubMed Health

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via HPO

⁶⁶ SNOMED-CT via Orphanet

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia