MCID: FNC032
MIFTS: 32

Fanconi Anemia, Complementation Group B malady

Genetic diseases (common) category

Summaries for Fanconi Anemia, Complementation Group B

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OMIM:45 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 Role of Brca1 and Brca2 in DNA repair and DNA damage ATM ATR regulation of G1 S checkpoint. The compounds melphalan and cisplatin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and lung, and related mouse phenotypes are cellular and endocrine/exocrine gland.

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 45 10 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 300514

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1aplastic anemia10.0FANCL, FANCG
2precursor t-cell acute lymphoblastic leukemia9.9FANCA, FANCG
3ataxia-telangiectasia9.8FANCD2, FANCC
4leukemia9.6FANCD2, FANCF, FANCC, FANCB
5tongue squamous cell carcinoma9.5FANCC, FANCD2, FANCG, FANCA
6deficiency anemia9.0FANCB, FANCC, FANCF, FANCD2, FANCE, FANCG
7squamous cell carcinoma, head and neck8.9FANCC, FANCF, FANCD2, FANCE, FANCG, FANCL
8breast cancer8.9FANCC, FANCF, FANCD2, FANCE, FANCG, FANCL
9fanconi anemia, complementation group a8.8FANCB, FANCC, FANCF, FANCD2, FANCE, FANCG

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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Genetic tests related to Fanconi Anemia, Complementation Group B:

id Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group B22

Anatomical Context for Fanconi Anemia, Complementation Group B

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

31
Bone marrow, Bone, Lung

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:

35
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 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, +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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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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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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1melphalan43 49 1211.3FANCD2, FANCC
2cisplatin43 49 59 1211.3FANCA, FANCG, FANCD2
3diepoxybutane438.0FANCC, FANCD2, FANCG, FANCA
4mitomycin c436.7FANCA, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:00432406.7FANCB, FANCC, FANCF, FANCE, FANCG, FANCL
2nucleoplasmGO:00056546.4FANCB, FANCC, FANCF, FANCD2, FANCE, FANCG

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

idNameGO IDScoreTop Affiliating Genes
1gamete generationGO:00072769.2FANCL, FANCD2
2protein complex assemblyGO:00064619.1FANCA, FANCC
3regulation of cell proliferationGO:00421278.8FANCA, FANCL
4DNA repairGO:00062816.4FANCA, FANCB, FANCC, FANCF, FANCD2, FANCE

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055157.4FANCA, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet