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

Aliases & Classifications for Fanconi Anemia, Complementation Group B

Sources:
¹¹Disease Ontology, ¹²diseasecard, ²⁷GTR, ³⁷MedGen, ³⁹MeSH, ⁵²OMIM, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Fanconi Anemia, Complementation Group B:

Name: Fanconi Anemia, Complementation Group B ⁵² ¹² ⁶⁸

Fanconi Anemia Complementation Group B ¹¹ ⁷⁰ ²⁷

Fanconi Pancytopenia Type 2 ¹¹ ⁷⁰

Fancb ¹¹ ⁷⁰

Fa2 ¹¹ ⁷⁰

Facb ¹¹

Characteristics:

HPO:

⁶⁴

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

Classifications:

MalaCards categories:
Global: Genetic diseases (common)
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM⁵² 300514

Disease Ontology¹¹ DOID:0111098

MedGen³⁷ C1845292

MeSH³⁹ D005199

Summaries for Fanconi Anemia, Complementation Group B

Sources:
¹¹Disease Ontology, ³⁶MalaCards, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

OMIM:⁵² 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 renal agenesis, low-set ears and growth delay. An important gene associated with Fanconi Anemia, Complementation Group B is FANCB (Fanconi Anemia Complementation Group B), and among its related pathways are DNA damage_ATM/ATR regulation of G1/S checkpoint and Chks in Checkpoint Regulation. Affiliated tissues include bone marrow, bone and lung, and related mouse phenotypes are Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation and Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization.

Disease Ontology:¹¹ A Fanconi anemia that has material basis in mutation in the FANCB gene on chromosome Xp22.

UniProtKB/Swiss-Prot:⁷⁰ 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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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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:

(show all 20)

id	Related Disease	Score	Top Affiliating Genes
1	vacterl with hydrocephalus, fancb-related	12.1
2	fancb-related fanconi anemia	12.1
3	fanconi anemia, complementation group a	11.7
4	hydrocephalus	11.4
5	vacterl with hydrocephalus	11.4
6	esophageal atresia	11.0
7	baller-gerold syndrome	11.0
8	vater/vacterl association	11.0
9	cloacal exstrophy	10.9
10	vater association with macrocephaly and ventriculomegaly	10.8
11	breast cancer	9.8
12	nijmegen breakage syndrome	9.8
13	blood coagulation disease	9.8	FANCA, FANCC, FANCG
14	dyslexia 1	9.6	FANCA, FANCC, FANCD2, FANCG
15	epilepsy, progressive myoclonic 7	9.4	FANCA, FANCC, FANCD2, FANCF, FANCG
16	hypogonadotropic hypogonadism 20 with or without anosmia	9.4	FANCA, FANCE, FANCF, FANCL
17	follicular lymphoma 1	9.3	FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
18	glanders	9.0	FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
19	episodic muscle weakness, x-linked	8.8	FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF
20	lymphedema-distichiasis syndrome	8.8	FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF

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

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group B

Sources:
²⁶GenomeRNAi, ⁴¹MGI, ⁵²OMIM, ⁶⁴The Human Phenotype Ontology
See all MalaCards sources

Clinical features from OMIM:

300514

Human phenotypes related to Fanconi Anemia, Complementation Group B:

⁶⁴ (show all 11)

id	Description	HPO Source Accession
1	renal agenesis⁶⁴	HP:0000104
2	low-set ears⁶⁴	HP:0000369
3	growth delay⁶⁴	HP:0001510
4	anemia⁶⁴	HP:0001903
5	abnormal lung lobation⁶⁴	HP:0002101
6	ventriculomegaly⁶⁴	HP:0002119
7	tracheoesophageal fistula⁶⁴	HP:0002575
8	abnormality of chromosome stability⁶⁴	HP:0003220
9	abnormality of the vertebrae⁶⁴	HP:0003468
10	absent radius⁶⁴	HP:0003974
11	absent thumb⁶⁴	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 mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation	GR00242-A-4	9.6	FANCC, FANCF, FANCL
2	Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization	GR00242-A-2	7.8	FANCC, FANCF, FANCL, FANCC, FANCF, FANCL
3	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	7.5	FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG

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

⁴¹

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	8.1	FANCA, FANCB, FANCC, FANCD2, FANCG, FANCL
2	endocrine/exocrine gland	MP:0005379	8.1	FANCA, FANCB, FANCC, FANCD2, FANCG, FANCL
3	reproductive system	MP:0005389	7.3	FANCA, FANCB, FANCC, FANCD2, FANCG, FANCL

Drugs & Therapeutics for Fanconi Anemia, Complementation Group B

Sources:
¹BitterDB, ⁴ClinicalTrials, ¹⁰DGIdb, ¹⁴DrugBank, ²⁹HMDB, ³³IUPHAR, ⁵⁰Novoseek, ⁵⁶PharmGKB
See all MalaCards sources

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

Simeprevir

approved

Phase 2

102

923604-59-5

66576988

Synonyms:

Olysio

2

Ribavirin

approved

Phase 2

1003

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-1H-1,2,4-triazole-3-carboxamide

1-beta-D-ribofuranosyl-1-H-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

C-Virin

CHEMBL1643

CID37542

Copegus

Copegus (TN)

Cotronak

D00423

DB00811

DRG-0028

DivK1c_000782

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

LS-1241

Lopac0_001063

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

RBV

RG-964

RIBAV

RTC

RTCA

RTP

Ravanex

Rebetol

Rebetol (TN)

Rebetron

Rebretron

Ribacine

Ribamide

Ribamidil

Ribamidyl

Ribasphere

Ribasphere (TN)

Ribav

Ribavirin

Ribavirin (JAN/USP/INN)

Ribavirin Capsules

Ribavirin Triphosphate

Ribavirin [USAN:INN]

Ribavirin-TP

Ribavirina

Ribavirina [INN-Spanish]

Ribavirine

Ribavirine [INN-French]

Ribavirinum

Ribavirinum [INN-Latin]

Ribovirin

Ro 20-9963/000

Ro-20-9963

S2504_Selleck

SCH 18908

SMP1_000261

SMR000058315

SPECTRUM1503938

SR-01000076112-3

Spectrum3_001876

Spectrum4_001252

Spectrum5_002075

Spectrum_001826

Tribavirin

UNII-49717AWG6K

Varazid

Vilona

Viramid

Viramide

Virazid

Virazide

Virazole

Virazole (Ribavirin) Inhalation Solution

Virazole (TN)

Virazole 5'-triphosphate

ZINC01035331

ribavirin

3

Peginterferon alfa-2a

approved, investigational

Phase 2

565

198153-51-4

5360545

Synonyms:

198153-51-4

D02747

Pegasys

Pegasys (TN)

Peginterferon alfa-2a

Peginterferon alfa-2a (USAN/INN)

Peginterferon alfa-2a (genetical recombination)

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

Pegylated interferon alfa-2a

Pegylated interferon alpha2a

4

HIV Protease Inhibitors

Phase 2

5470

5

Antimetabolites

Phase 2

12054

6

protease inhibitors

Phase 2

5471

Synonyms:

protease inhibitors

7

Antiviral Agents

Phase 2

9967

8

Anti-Infective Agents

Phase 2

22062

9

interferons

Phase 2

2175

10

Talazoparib

Phase 2

30

11

Poly(ADP-ribose) Polymerase Inhibitors

Phase 2

340

12

Vaccines

Phase 1

6611

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

Sources:
²⁷GTR
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Genetic tests related to Fanconi Anemia, Complementation Group B:

id	Genetic test	Affiliating Genes
1	Fanconi Anemia, Complementation Group B²⁷

Anatomical Context for Fanconi Anemia, Complementation Group B

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Fanconi Anemia, Complementation Group B:

³⁶

Bone marrow, Bone, Lung

Publications for Fanconi Anemia, Complementation Group B

Sources:
⁵⁷PubMed
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Articles related to Fanconi Anemia, Complementation Group B:

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

Genes related to Fanconi Anemia, Complementation Group B

Sources:
⁵Clinvar, ²¹GeneCards, ⁵²OMIM
See all MalaCards sources

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

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	FANCB	Fanconi Anemia Complementation Group B	963.95	Molecular basis known ⁵² Pathogenic ⁵ GeneCards inferred via : Disorders, Publications, Gene name, Summaries, Transcripts (show sections)	15502827, 20301575, 16679491 more 21910217, 8368240
2	FANCC	Fanconi Anemia Complementation Group C	28.90	GeneCards inferred via : Disorders, Publications (show sections)
3	FANCE	Fanconi Anemia Complementation Group E	28.90	GeneCards inferred via : Disorders, Publications (show sections)
4	FANCA	Fanconi Anemia Complementation Group A	28.90	GeneCards inferred via : Disorders, Publications (show sections)
5	FANCF	Fanconi Anemia Complementation Group F	28.90	GeneCards inferred via : Disorders, Publications (show sections)
6	FANCG	Fanconi Anemia Complementation Group G	28.90	GeneCards inferred via : Disorders, Publications (show sections)
7	FANCL	Fanconi Anemia Complementation Group L	28.90	GeneCards inferred via : Disorders, Publications (show sections)
8	FANCD2	Fanconi Anemia Complementation Group D2	28.90	GeneCards inferred via : Disorders, Publications (show sections)

Variations for Fanconi Anemia, Complementation Group B

Sources:
⁵Clinvar
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Clinvar genetic disease variations for Fanconi Anemia, Complementation Group B:

⁵

id	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	SNV	Pathogenic
6	FANCB	FANCB, LEU717TER	SNV	Pathogenic
7	FANCB	FANCB, 2-BP DEL, 1857AG	deletion	Pathogenic

Expression for genes affiliated with Fanconi Anemia, Complementation Group B

Sources:
¹⁸Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group B.

Pathways for genes affiliated with Fanconi Anemia, Complementation Group B

Sources:
³⁴KEGG, ⁴²NCBI BioSystems Database, ⁵⁵PathCards, ⁵⁸QIAGEN, ⁶⁰Reactome, ⁶⁵Thomson Reuters
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	DNA damage_ATM/ATR regulation of G1/S checkpoint⁶⁵	9.1	FANCD2, FANCL
2	Chks in Checkpoint Regulation⁵⁸ Show member pathways Estrogen-mediated S-Phase Entry⁵⁸ Parkinson's Disease Pathway⁵⁸ DNA Repair Mechanisms⁵⁸ SREBP Proteolysis⁵⁸ G2-M Phase Transition⁵⁸	7.6	FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
3	BRCA1 Pathway⁵⁸ Show member pathways Fanconi's Anaemia Pathway⁵⁸	6.7	FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
4	BARD1 signaling events⁴²	6.7	FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
5	Fanconi anemia pathway⁶⁰ ³⁴ Show member pathways Fanconi Anemia Pathway⁶⁰	6.4	FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF
6	DNA Double-Strand Break Repair⁶⁰ Show member pathways DNA Repair⁶⁰ Homology Directed Repair⁶⁰ DNA damage_DNA-damage-induced responses⁶⁵ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)⁶⁰ Processing of DNA double-strand break ends⁶⁰ G2/M DNA damage checkpoint⁶⁰ Non-homologous end joining⁴² HDR through MMEJ (alt-NHEJ)⁶⁰ Non-homologous end-joining³⁴ Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex⁶⁰	6.4	FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF

GO Terms for genes affiliated with Fanconi Anemia, Complementation Group B

Sources:
¹⁹Gene Ontology
See all MalaCards sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	Fanconi anaemia nuclear complex	GO:0043240	7.7	FANCA, FANCB, FANCC, FANCE, FANCF, FANCG
2	nucleoplasm	GO:0005654	7.2	FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF
3	nucleus	GO:0005634	6.4	FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF

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	brain morphogenesis	GO:0048854	10.3	FANCC, FANCD2
2	cellular response to oxidative stress	GO:0034599	10.2	FANCC, FANCD2
3	neuronal stem cell population maintenance	GO:0097150	10.1	FANCC, FANCD2
4	regulation of CD40 signaling pathway	GO:2000348	10.0	FANCA, FANCD2
5	regulation of inflammatory response	GO:0050727	9.9	FANCA, FANCD2
6	regulation of regulatory T cell differentiation	GO:0045589	9.9	FANCA, FANCD2
7	ovarian follicle development	GO:0001541	9.9	FANCF, FANCG
8	gamete generation	GO:0007276	9.7	FANCD2, FANCL
9	regulation of sequence-specific DNA binding transcription factor activity	GO:0051090	9.5	FANCA, FANCD2
10	cellular response to DNA damage stimulus	GO:0006974	7.1	FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF
11	DNA repair	GO:0006281	7.0	FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF
12	interstrand cross-link repair	GO:0036297	7.0	FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF