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

Summaries for Fanconi Anemia, Complementation Group B

Sources:
⁴⁶OMIM, ³²MalaCards
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OMIM:⁴⁶ Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability....300514 more...

MalaCards based summary: Fanconi Anemia, Complementation Group B is related to aplastic anemia and precursor t-cell acute lymphoblastic leukemia, and has symptoms including renal agenesis, low-set ears and x-linked recessive inheritance. 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. The compounds melphalan and cisplatin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related mouse phenotypes are cellular and endocrine/exocrine gland.

Aliases & Classifications for Fanconi Anemia, Complementation Group B

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⁴⁶OMIM
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Fanconi Anemia, Complementation Group B, Aliases & Descriptions:

Name: Fanconi Anemia, Complementation Group B ⁴⁶

Related Diseases for Fanconi Anemia, Complementation Group B

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
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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/GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	aplastic anemia	10.0	FANCL, FANCG
2	precursor t-cell acute lymphoblastic leukemia	9.9	FANCA, FANCG
3	ataxia telangiectasia	9.8	FANCD2, FANCC
4	leukemia	9.7	FANCD2, FANCF, FANCC, FANCB
5	tongue squamous cell carcinoma	9.5	FANCC, FANCD2, FANCG, FANCA
6	deficiency anemia	9.0	FANCB, FANCC, FANCF, FANCD2, FANCE, FANCG
7	squamous cell carcinoma of the head and neck	8.9	FANCC, FANCF, FANCD2, FANCE, FANCG, FANCL
8	breast cancer	8.9	FANCC, FANCF, FANCD2, FANCE, FANCG, FANCL
9	fanconi's anemia	8.8	FANCB, FANCC, FANCF, FANCD2, FANCE, FANCG

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

Symptoms for Fanconi Anemia, Complementation Group B

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
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Clinical features from OMIM:

300514

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

(show all 11)

id	Description	HPO Source Accession
1	renal agenesis	HP:0000104
2	low-set ears	HP:0000369
3	x-linked recessive inheritance	HP:0001419
4	growth delay	HP:0001510
5	ventriculomegaly	HP:0002119
6	tracheoesophageal fistula	HP:0002575
7	abnormality of chromosome stability	HP:0003220
8	abnormality of the vertebrae	HP:0003468
9	absent radius	HP:0003974
10	lung segmentation defects	HP:0006525
11	absent thumb	HP:0009777

Drugs & Therapeutics for Fanconi Anemia, Complementation Group B

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Fanconi Anemia, Complementation Group B

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

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³²MalaCards
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MalaCards organs/tissues related to Fanconi Anemia, Complementation Group B:

³²

Bone marrow, Bone

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

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³⁶MGI
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MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group B:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular phenotype	MP:0005384	7.6	FANCA, FANCL, FANCG, FANCD2, FANCC
2	endocrine/exocrine gland phenotype	MP:0005379	7.5	FANCA, FANCL, FANCG, FANCD2, FANCC
3	reproductive system phenotype	MP:0005389	7.3	FANCC, FANCD2, FANCG, FANCL, FANCA

Publications for Fanconi Anemia, Complementation Group B

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⁵¹PubMed
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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:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁷Clinvar
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Genes related to Fanconi Anemia, Complementation Group B:

- Elite gene

id	Symbol	Description	Score	Implication
1	FANCB	Fanconi anemia, complementation group B	21.61	Molecular basis known ⁴⁶ Pathogenic ⁷ GeneCards inferred via : Proteins, Publications, Gene name, Disorders (show sections)
2	FANCF	Fanconi anemia, complementation group F	18.89	GeneCards inferred via : Publications (show sections)
3	FANCG	Fanconi anemia, complementation group G	16.39	GeneCards inferred via : Publications (show sections)
4	FANCE	Fanconi anemia, complementation group E	13.89	GeneCards inferred via : Publications (show sections)
5	FANCL	Fanconi anemia, complementation group L	11.39	GeneCards inferred via : Publications (show sections)
6	FANCD2	Fanconi anemia, complementation group D2	8.89	GeneCards inferred via : Publications (show sections)
7	FANCA	Fanconi anemia, complementation group A	6.39	GeneCards inferred via : Publications (show sections)
8	FANCC	Fanconi anemia, complementation group C	3.89	GeneCards inferred via : Publications (show sections)

Products for genes related to Fanconi Anemia, Complementation Group B disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	7	-	8	8
2	Novus Biologicals	7	7	8	-

Variations for Fanconi Anemia, Complementation Group B

Sources:
⁷Clinvar
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Clinvar genetic disease variations for Fanconi Anemia, Complementation Group B:

⁷

id	Gene	Name	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:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fanconi Anemia, Complementation Group B

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

Pathways for genes affiliated with Fanconi Anemia, Complementation Group B

Sources:
⁴⁹PathCards, ⁵⁹Thomson Reuters, ¹³EMD Millipore, ⁵²QIAGEN, ³⁷NCBI BioSystems Database, ³⁰KEGG, ⁵⁴Reactome
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Pathways related to Fanconi Anemia, Complementation Group B according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	DNA damage ATM ATR regulation of G1 S checkpoint⁵⁹	9.3	FANCL, FANCD2
2	DNA damage Role of Brca1 and Brca2 in DNA repair⁵⁹	9.3	FANCL, FANCD2
3	Meiosis¹³	8.6	FANCB, FANCD2, FANCG, FANCL
4	Chks in Checkpoint Regulation⁵² Show member pathways DNA Repair Mechanisms⁵² G2-M Phase Transition⁵² Estrogen-mediated S-Phase Entry⁵² SREBP Proteolysis⁵²	7.3	FANCC, FANCF, FANCD2, FANCE, FANCG, FANCA
5	BRCA1 Pathway⁵² Show member pathways Fanconi's Anaemia Pathway⁵²	6.7	FANCA, FANCL, FANCG, FANCE, FANCD2, FANCF
6	BARD1 signaling events³⁷	6.7	FANCC, FANCA, FANCL, FANCG, FANCE, FANCD2
7	Fanconi anemia pathway³⁰	6.4	FANCB, FANCC, FANCF, FANCD2, FANCE, FANCG
8	DNA Repair⁵⁴ Show member pathways Transcription-coupled NER (TC-NER)⁵⁴ DNA Damage Reversal⁵⁴ Reversal of Alkylation Damage By DNA Dioxygenases⁵⁴ ABH2 mediated Reversal of Alkylation Damage⁵⁴ Nucleotide Excision Repair⁵⁴ Dual incision reaction in TC-NER⁵⁴ ABH3 mediated Reversal of Alkylation Damage⁵⁴ Formation of transcription-coupled NER (TC-NER) repair complex⁵⁴	6.4	FANCD2, FANCF, FANCC, FANCB, FANCE, FANCG
9	Fanconi anemia pathway³⁰ Show member pathways Regulation of the Fanconi anemia pathway⁵⁴ Fanconi Anemia pathway⁵⁴	6.4	FANCA, FANCL, FANCB, FANCC, FANCF, FANCD2

Compounds for genes affiliated with Fanconi Anemia, Complementation Group B

Sources:
⁴⁴Novoseek, ⁵⁰PharmGKB, ¹²DrugBank, ⁶⁰Tocris Bioscience
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Compounds related to Fanconi Anemia, Complementation Group B according to GeneCards/GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	melphalan⁴⁴ ⁵⁰ ¹²	11.3	FANCD2, FANCC
2	cisplatin⁴⁴ ⁵⁰ ⁶⁰ ¹²	11.3	FANCA, FANCG, FANCD2
3	diepoxybutane⁴⁴	8.0	FANCC, FANCD2, FANCG, FANCA
4	mitomycin c⁴⁴	6.7	FANCA, FANCL, FANCG, FANCE, FANCD2, FANCF

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

Sources:
¹⁷Gene Ontology
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Cellular components related to Fanconi Anemia, Complementation Group B according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	Fanconi anaemia nuclear complex	GO:043240	6.7	FANCA, FANCB, FANCC, FANCF, FANCE, FANCG
2	nucleoplasm	GO:005654	6.4	FANCC, FANCF, FANCD2, FANCE, FANCG, FANCL

Biological processes related to Fanconi Anemia, Complementation Group B according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	gamete generation	GO:007276	9.2	FANCL, FANCD2
2	protein complex assembly	GO:006461	9.1	FANCA, FANCC
3	regulation of cell proliferation	GO:042127	8.8	FANCA, FANCL
4	DNA repair	GO:006281	6.4	FANCA, FANCB, FANCC, FANCF, FANCD2, FANCE

Molecular functions related to Fanconi Anemia, Complementation Group B according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	7.4	FANCA, FANCG, FANCD2, FANCF, FANCC, FANCB

Products for genes affiliated with Fanconi Anemia, Complementation Group B

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Antibodies
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Sources for Fanconi Anemia, Complementation Group B

¹antibodies-online

²BioGPS

³BitterDB

⁴CDC

⁵Cell Signaling Technology

⁶ClinicalTrials

⁷Clinvar

⁸dbSNP

⁹Disease Ontology

¹⁰diseasecard

¹¹DISEASES

¹²DrugBank

¹³EMD Millipore

¹⁴ExPASy

¹⁵FMA

¹⁶Gene Expression Omnibus DataSets

¹⁷Gene Ontology

¹⁸GeneCards

¹⁹GeneDecks

²⁰GeneReviews

²¹GeneTests

²²Genetics Home Reference

²³GTR

²⁴HGMD

²⁵HMDB

²⁶ICD10

²⁷ICD10 via Orphanet

²⁸ICD9CM

²⁹IUPHAR

³⁰KEGG

³¹LifeMap Discovery®

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PathCards

⁵⁰PharmGKB

⁵¹PubMed

⁵²QIAGEN

⁵³R&D Systems

⁵⁴Reactome

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸The Human Phenotype Ontology

⁵⁹Thomson Reuters

⁶⁰Tocris Bioscience

⁶¹UMLS

⁶²UMLS via Orphanet

⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

MCID: FNC032 MIFTS: 28	Fanconi Anemia, Complementation Group B malady
11 symptoms, 8 genes, 2 tissues, 9 related diseases, clinical trials Download this MalaCard Expand all tables

Fanconi Anemia, Complementation Group B malady