MCID: FNC032
MIFTS: 25

Fanconi Anemia, Complementation Group B malady

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Summaries for Fanconi Anemia, Complementation Group B

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MalaCards based summary: Fanconi Anemia, Complementation Group B is related to aplastic anemia and precursor t-cell acute lymphoblastic leukemia, and has symptoms including 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.

Description from OMIM:46 300514

Aliases & Classifications for Fanconi Anemia, Complementation Group B

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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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1aplastic anemia10.0FANCG, FANCL
2precursor t-cell acute lymphoblastic leukemia9.9FANCA, FANCG
3ataxia telangiectasia9.8FANCC, FANCD2
4leukemia9.7FANCD2, FANCF, FANCB, FANCC
5tongue squamous cell carcinoma9.5FANCG, FANCD2, FANCA, FANCC
6deficiency anemia9.0FANCA, FANCF, FANCG, FANCD2, FANCC, FANCB
7squamous cell carcinoma of the head and neck8.9FANCA, FANCL, FANCG, FANCE, FANCD2, FANCC
8breast cancer8.9FANCA, FANCE, FANCG, FANCD2, FANCF, FANCC
9fanconi's anemia8.8FANCA, FANCL, FANCG, FANCE, FANCD2, FANCF

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



Diseases related to fanconi anemia, complementation group b

Symptoms for Fanconi Anemia, Complementation Group B

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Clinical features from OMIM:

300514

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

(show all 11)
id Description Frequency 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

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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

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Anatomical Context for Fanconi Anemia, Complementation Group B

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.6FANCA, FANCL, FANCG, FANCD2, FANCC
2MP:00053797.5FANCA, FANCL, FANCG, FANCD2, FANCC
3MP:00053897.3FANCC, FANCD2, FANCG, FANCL, FANCA

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:

6
id Gene Name 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, +5single nucleotide variantPathogenic
6FANCBFANCB, LEU717TERsingle nucleotide variantPathogenic
7FANCBFANCB, 2-BP DEL, 1857AGdeletionPathogenic

Expression for genes affiliated with Fanconi Anemia, Complementation Group B

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Expression patterns in normal tissues for genes affiliated with Fanconi Anemia, Complementation Group B

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Pathways for genes affiliated with Fanconi Anemia, Complementation Group B

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Compounds for genes affiliated with Fanconi Anemia, Complementation Group B

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

idCompoundScoreTop Affiliating Genes
1melphalan44 50 1111.3FANCD2, FANCC
2cisplatin44 50 61 1111.3FANCA, FANCG, FANCD2
3diepoxybutane448.0FANCC, FANCD2, FANCG, FANCA
4mitomycin c446.7FANCA, FANCL, FANCG, FANCE, FANCD2, FANCF

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:0432406.7FANCA, FANCB, FANCC, FANCF, FANCE, FANCG
2nucleoplasmGO:0056546.4FANCC, FANCF, FANCD2, FANCE, FANCG, FANCL

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

idNameGO IDScoreTop Affiliating Genes
1gamete generationGO:0072769.2FANCL, FANCD2
2protein complex assemblyGO:0064619.1FANCA, FANCC
3regulation of cell proliferationGO:0421278.8FANCA, FANCL
4DNA repairGO:0062816.4FANCA, FANCB, FANCC, FANCF, FANCD2, FANCE

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.4FANCA, FANCG, FANCD2, FANCF, FANCC, FANCB

Products for genes affiliated with Fanconi Anemia, Complementation Group B

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Sources for Fanconi Anemia, Complementation Group B

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet