FANCB
MCID: FNC032
MIFTS: 43

Fanconi Anemia, Complementation Group B (FANCB) malady

Categories: Genetic diseases (common), Blood diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group B

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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:



External Ids:

OMIM52 300514
Disease Ontology11 DOID:0111098
MedGen37 C1845292
MeSH39 D005199

Summaries for Fanconi Anemia, Complementation Group B

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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

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



Diseases related to fanconi anemia, complementation group b

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group B

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Clinical features from OMIM:

300514

Human phenotypes related to Fanconi Anemia, Complementation Group B:

 64 (show all 11)
id Description HPO Frequency 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
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00242-A-49.6FANCC, FANCF, FANCL
2GR00242-A-27.8FANCC, FANCF, FANCL, FANCC, FANCF, FANCL
3GR00250-A-37.5FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.1FANCA, FANCB, FANCC, FANCD2, FANCG, FANCL
2MP:00053798.1FANCA, FANCB, FANCC, FANCD2, FANCG, FANCL
3MP:00053897.3FANCA, FANCB, FANCC, FANCD2, FANCG, FANCL

Drugs & Therapeutics for Fanconi Anemia, Complementation Group B

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimeprevirapprovedPhase 2102923604-59-566576988
Synonyms:
 
Olysio
2
RibavirinapprovedPhase 2100336791-04-537542
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-2aapproved, investigationalPhase 2565198153-51-45360545
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
4HIV Protease InhibitorsPhase 25470
5AntimetabolitesPhase 212054
6
protease inhibitorsPhase 25471
Synonyms:
 
protease inhibitors
7Antiviral AgentsPhase 29967
8Anti-Infective AgentsPhase 222062
9interferonsPhase 22175
10TalazoparibPhase 230
11Poly(ADP-ribose) Polymerase InhibitorsPhase 2340
12VaccinesPhase 16611

Interventional clinical trials:

idNameStatusNCT IDPhase
1A 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 TreatmentCompletedNCT00882908Phase 2
2Talazoparib Beyond BRCA (TBB) TrialRecruitingNCT02401347Phase 2
3A Study to Evaluate the Safety, Tolerability and Immunogenicity of Ad26.RSV.FA2 Followed by Ad35.RSV.FA2 in Healthy Adult VolunteersCompletedNCT02561871Phase 1
4A Study to Evaluate the Safety, Tolerability and Immunogenicity of Ad35.RSV.FA2 Regimens Boosted With Ad26.RSV.FA2 in Healthy Adult ParticipantsCompletedNCT02440035Phase 1
5DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/DysplasiaRecruitingNCT03177018

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Genetic Tests for Fanconi Anemia, Complementation Group B

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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

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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

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Articles related to Fanconi Anemia, Complementation Group B:

idTitleAuthorsYear
1
X-linked inheritance of Fanconi anemia complementation group B. (15502827)
2004

Variations for Fanconi Anemia, Complementation Group B

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FANCBFANCB, 1-BP INS, 1838TinsertionPathogenic
2FANCBFANCB, 3314-BP DELdeletionPathogenic
3FANCBFANCB, 1-BP DEL, 1650TdeletionPathogenic
4FANCBFANCB, 1-BP INS, 811TinsertionPathogenic
5FANCBFANCB, IVS7DS, G-A, +5SNVPathogenic
6FANCBFANCB, LEU717TERSNVPathogenic
7FANCBFANCB, 2-BP DEL, 1857AGdeletionPathogenic

Expression for genes affiliated with Fanconi Anemia, Complementation Group B

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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

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

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

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:00432407.7FANCA, FANCB, FANCC, FANCE, FANCF, FANCG
2nucleoplasmGO:00056547.2FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF
3nucleusGO:00056346.4FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1brain morphogenesisGO:004885410.3FANCC, FANCD2
2cellular response to oxidative stressGO:003459910.2FANCC, FANCD2
3neuronal stem cell population maintenanceGO:009715010.1FANCC, FANCD2
4regulation of CD40 signaling pathwayGO:200034810.0FANCA, FANCD2
5regulation of inflammatory responseGO:00507279.9FANCA, FANCD2
6regulation of regulatory T cell differentiationGO:00455899.9FANCA, FANCD2
7ovarian follicle developmentGO:00015419.9FANCF, FANCG
8gamete generationGO:00072769.7FANCD2, FANCL
9regulation of sequence-specific DNA binding transcription factor activityGO:00510909.5FANCA, FANCD2
10cellular response to DNA damage stimulusGO:00069747.1FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF
11DNA repairGO:00062817.0FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF
12interstrand cross-link repairGO:00362977.0FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF

Sources for Fanconi Anemia, Complementation Group B

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet