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

Aliases & Classifications for Fanconi Anemia, Complementation Group B

Sources:
⁴⁹OMIM, ¹¹diseasecard, ⁶⁵UMLS, ⁶⁷UniProtKB/Swiss-Prot, ²⁴GTR, ³⁴MedGen, ³⁶MeSH, ⁶¹The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Fanconi Anemia, Complementation Group B:

Name: Fanconi Anemia, Complementation Group B ⁴⁹ ¹¹ ⁶⁵

Fanconi Anemia Complementation Group B ⁶⁷ ²⁴

Fanconi Pancytopenia Type 2 ⁶⁷

Fancb ⁶⁷

Fa2 ⁶⁷

Characteristics:

HPO:

⁶¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases (common)

See all MalaCards categories (disease lists)

External Ids:

OMIM⁴⁹ 300514

MedGen³⁴ C1845292

MeSH³⁶ D005199

UMLS⁶⁵ C1845292

Summaries for Fanconi Anemia, Complementation Group B

Sources:
⁴⁹OMIM, ⁶⁷UniProtKB/Swiss-Prot, ³³MalaCards
See all MalaCards sources

OMIM:⁴⁹ 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 absent thumb, lung segmentation defects and absent radius. 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 DNA damage_Role of Brca1 and Brca2 in DNA repair. Affiliated tissues include bone, bone marrow and lung, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

UniProtKB/Swiss-Prot:⁶⁷ 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:
²⁰GeneCards, ¹⁹GeneAnalytics
See all MalaCards sources

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 19)

id	Related Disease	Score	Top Affiliating Genes
1	vacterl with hydrocephalus, fancb-related	12.2
2	fancb-related fanconi anemia	12.2
3	hydrocephalus	11.6
4	fanconi anemia, complementation group a	11.5
5	vacterl with hydrocephalus	11.5
6	esophageal atresia	11.1
7	baller-gerold syndrome	11.0
8	vater association with macrocephaly and ventriculomegaly	10.0
9	breast cancer	9.9
10	nijmegen breakage syndrome	9.9
11	vacterl association	9.9
12	sulfhemoglobinemia	9.4	FANCA, FANCC, FANCG
13	tendinitis	8.8	FANCA, FANCC, FANCD2, FANCG
14	antiphospholipid syndrome, familial	8.6	FANCA, FANCC, FANCE, FANCF, FANCG
15	fibromatosis, gingival, 4	8.4	FANCA, FANCC, FANCD2, FANCF, FANCG
16	zimmermann-laband syndrome 2	8.4	FANCA, FANCE, FANCF, FANCL
17	urethritis	7.4	FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
18	mental retardation, autosomal recessive 45	7.1	FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF
19	chondrodysplasia punctata, x-linked recessive	6.8	FAAP95, FANCA, FANCB, FANCC, FANCD2, FANCE

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

Symptoms for Fanconi Anemia, Complementation Group B

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology
See all MalaCards sources

Clinical features from OMIM:

300514

HPO human phenotypes related to Fanconi Anemia, Complementation Group B:

(show all 11)

id	Description	HPO Source Accession
1	absent thumb	HP:0009777
2	lung segmentation defects	HP:0006525
3	absent radius	HP:0003974
4	abnormality of the vertebrae	HP:0003468
5	abnormality of chromosome stability	HP:0003220
6	tracheoesophageal fistula	HP:0002575
7	ventriculomegaly	HP:0002119
8	anemia	HP:0001903
9	growth delay	HP:0001510
10	low-set ears	HP:0000369
11	renal agenesis	HP:0000104

Drugs & Therapeutics for Fanconi Anemia, Complementation Group B

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ¹³DrugBank, ²⁶HMDB, ⁹DGIdb, ⁵³PharmGKB, ³⁰IUPHAR, ⁴⁷Novoseek, ¹BitterDB
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

89

923604-59-5

66576988

Synonyms:

Galexos

Olysio

TMC435

TMC435350

2

Ribavirin

approved

Phase 2

948

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

Ibavyr

KBio1_000782

KBio2_002328

KBio2_004896

KBio2_007464

KBio3_002854

KBioGR_001804

KBioSS_002331

KS-1104

LS-1241

Lopac0_001063

MLS000028486

MLS002222317

Moderiba

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)

Ribasphere Ribapak

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

537

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)

4

HIV Protease Inhibitors

Phase 2

4558

5

Antimetabolites

Phase 2

9454

6

Protease Inhibitors

Phase 2

4558

7

Antiviral Agents

Phase 2

8071

8

Anti-Infective Agents

Phase 2

17220

9

interferons

Phase 2

1930

10

Talazoparib

Phase 2

20

11

Poly(ADP-ribose) Polymerase Inhibitors

Phase 2

250

12

Vaccines

Phase 1

6085

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	Recruiting	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	Recruiting	NCT02440035	Phase 1

Search NIH Clinical Center for Fanconi Anemia, Complementation Group B

Genetic Tests for Fanconi Anemia, Complementation Group B

Anatomical Context for Fanconi Anemia, Complementation Group B

Sources:
³³MalaCards
See all MalaCards sources

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

³³

Bone, Bone marrow, Lung, Breast

Animal Models for Fanconi Anemia, Complementation Group B or affiliated genes

Sources:
³⁸MGI
See all MalaCards sources

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

³⁸

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	7.5	FANCA, FANCB, FANCC, FANCD2, FANCG, FANCL
2	reproductive system	MP:0005389	7.3	FANCA, FANCB, FANCC, FANCD2, FANCG, FANCL
3	cellular	MP:0005384	7.1	FANCA, FANCB, FANCC, FANCD2, FANCG, FANCL

Publications for Fanconi Anemia, Complementation Group B

Sources:
⁵⁴PubMed
See all MalaCards sources

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:
²⁰GeneCards, ⁴⁹OMIM, ⁵Clinvar
See all MalaCards sources

Genes related to Fanconi Anemia, Complementation Group B (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication
1	FANCB	Fanconi Anemia Complementation Group B	964.86	Molecular basis known ⁴⁹ Pathogenic ⁵ GeneCards inferred via : Disorders, Publications, Gene name, Summaries, Transcripts (show sections)
2	FAAP95	Fanconi Anemia, Complementation Group B	509.40	Molecular basis known ⁴⁹ GeneCards inferred via : Gene name (show sections)
3	FANCC	Fanconi Anemia Complementation Group C	18.41	GeneCards inferred via : Publications (show sections)
4	FANCE	Fanconi Anemia Complementation Group E	18.41	GeneCards inferred via : Publications (show sections)
5	FANCA	Fanconi Anemia Complementation Group A	18.41	GeneCards inferred via : Publications (show sections)
6	FANCF	Fanconi Anemia Complementation Group F	18.41	GeneCards inferred via : Publications (show sections)
7	FANCG	Fanconi Anemia Complementation Group G	18.41	GeneCards inferred via : Publications (show sections)
8	FANCL	Fanconi Anemia Complementation Group L	18.41	GeneCards inferred via : Publications (show sections)
9	FANCD2	Fanconi Anemia Complementation Group D2	18.41	GeneCards inferred via : Publications (show sections)

Variations for Fanconi Anemia, Complementation Group B

Sources:
⁵Clinvar
See all MalaCards sources

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	single nucleotide variant	Pathogenic
6	FANCB	FANCB, LEU717TER	single nucleotide variant	Pathogenic
7	FANCB	FANCB, 2-BP DEL, 1857AG	deletion	Pathogenic

Expression for genes affiliated with Fanconi Anemia, Complementation Group B

Sources:
¹⁷Gene Expression Omnibus DataSets
See all MalaCards sources

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

Pathways for genes affiliated with Fanconi Anemia, Complementation Group B

Sources:
⁵²PathCards, ⁶²Thomson Reuters, ⁵⁵QIAGEN, ³⁹NCBI BioSystems Database, ⁵⁷Reactome, ³¹KEGG
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 checkpoint⁶²	9.1	FANCD2, FANCL
2	DNA damage_Role of Brca1 and Brca2 in DNA repair⁶²	9.1	FANCD2, FANCL
3	Chks in Checkpoint Regulation⁵⁵ Show member pathways Parkinsons Disease Pathway⁵⁵ Estrogen-mediated S-Phase Entry⁵⁵ DNA Repair Mechanisms⁵⁵ G2-M Phase Transition⁵⁵ SREBP Proteolysis⁵⁵	7.6	FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
4	BRCA1 Pathway⁵⁵ Show member pathways Fanconis Anaemia Pathway⁵⁵	6.7	FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
5	BARD1 signaling events³⁹	6.7	FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
6	DNA Double-Strand Break Repair⁵⁷ Show member pathways DNA Repair⁵⁷ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)⁵⁷ Homology Directed Repair⁵⁷ G2/M DNA damage checkpoint⁵⁷ Processing of DNA double-strand break ends⁵⁷ Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex⁵⁷ DNA damage_DNA-damage-induced responses⁶² HDR through MMEJ (alt-NHEJ)⁵⁷ Non-homologous end-joining³¹ Non-homologous end joining³⁹	6.1	FAAP95, FANCA, FANCB, FANCC, FANCD2, FANCE
7	Fanconi anemia pathway³¹ ⁵⁷ Show member pathways Fanconi Anemia Pathway⁵⁷	6.1	FAAP95, FANCA, FANCB, FANCC, FANCD2, FANCE