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FANCB
MCID: FNC032
MIFTS: 40
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Fanconi Anemia, Complementation Group B (FANCB)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases
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MalaCards integrated aliases for Fanconi Anemia, Complementation Group B:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Blood diseases Bone diseases Immune diseases Nephrological diseases |
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OMIM
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57
Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).
Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H, for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia (McCauley et al., 2011).
For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (300514)
MalaCards based summary : Fanconi Anemia, Complementation Group B, also known as fanconi anemia complementation group b, is related to fanconi anemia, complementation group a and vacterl association with hydrocephalus. An important gene associated with Fanconi Anemia, Complementation Group B is FANCB (FA Complementation Group B), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Peginterferon alfa-2a and Ribavirin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung, and related phenotypes are low-set ears and abnormal vertebral morphology Disease Ontology : 12 A Fanconi anemia that has material basis in mutation in the FANCB gene on chromosome Xp22. UniProtKB/Swiss-Prot : 75 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300514Human phenotypes related to Fanconi Anemia, Complementation Group B:32 (show all 12)
GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group B:46
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Drugs for Fanconi Anemia, Complementation Group B (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:
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MalaCards organs/tissues related to Fanconi Anemia, Complementation Group B:41
Bone,
Bone Marrow,
Lung,
Kidney
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Genes related to Fanconi Anemia, Complementation Group B (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Fanconi Anemia, Complementation Group B:6
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Search
GEO
for disease gene expression data for Fanconi Anemia, Complementation Group B.
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Pathways related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:
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Cellular components related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:
Biological processes related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:(show all 12)
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