Fanconi Anemia Type 2

Common Name(s)

Fanconi Anemia Type 2, Fanconi anemia, complementation group B

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 {1: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 ({9:McCauley et al., 2011}). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Anemia Type 2" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia
 

Status: Recruiting

Condition Summary: Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Minimally Differentiated Myeloid Leukemia (M0); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Fanconi Anemia; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

 

Last Updated: 14 Feb 2014

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