Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. [ncbi.nlm.nih.gov]

Acronym FANCD2 Synonyms FA4 FACD FAD2 FANCD Fanconi anemia complementation group D Fanconi pancytopenia type 4 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Clinical presentation and biological confirmation of 7 FA patients identified are detailed, and strategies for a comprehensive and precise diagnosis of FA in patients presenting with BMF are discussed. [haematologica.org]

RESULTS: About 65% of SNPs and 55% of INDELs were found to be commonly present in both the FA dysfunctional and retrovirally corrected cell lines, showing their common origin. [cancerindex.org]

Malformations were present in 96% of cases and consisted mainly of skeletal malformations. Abnormal skin pigmentations were present in 92% of cases. The ages of patients ranged from 1 year to 30 years. The mean age at diagnosis was 9 years. [nature.com]

• Disability

  Microcephaly Partial duplication of thumb phalanx Preaxial hand polydactyly Short thumb Abnormality of the nervous system Attention deficit hyperactivity disorder Corpus callosum, agenesis of Hydrocephalus Hypoplasia of the corpus callosum Intellectual disability [ncbi.nlm.nih.gov]

• Fishing

  None of the mutant fish displayed gross developmental abnormalities except for fancp-/- fish, which were significantly smaller in length than their wildtype clutch mates. [cancerindex.org]

• Human Papillomavirus

  Khanal S, Galloway DA High-risk human papillomavirus oncogenes disrupt the Fanconi anemia DNA repair pathway by impairing localization and de-ubiquitination of FancD2. [cancerindex.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Since FA is itself a genetic disease, these data imply that patient genotype and/or transcriptome may impact the effectiveness of gene editing treatments and that treatments biased toward FA repair pathways could have therapeutic value. [cancerindex.org]

Following aphidicolin treatment, targets chromatid gaps and breaks. [antibodies.com]

If breaks are increased, a diagnosis of FA is made and appropriate treatment/follow-up offered. [haematologica.org]

This included BMF patients (i) without any evidence of an associated underlying etiology, (ii) with only an isolated non-specific positive sign in history or physical examination (i.e. isolated short stature, or café-au-lait spots, or history of consanguinity [haematologica.org]

PMID 11751423 Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes. Yamashita T, Nakahata T International journal of hematology. 2001 ; 74 (1) : 33-41. [atlasgeneticsoncology.org]

We report here generation and characterization of zebrafish knockout mutants for 17 FA disease-causing genes, providing an integral resource for understanding the pathophysiology associated with the disrupted FA pathway. [cancerindex.org]

Current concepts in the pathophysiology and treatment of aplastic anemia. Blood. 2006; 108:2509-19. Google Scholar Hematology of Infancy and Childhood. Saunders: Philadelphia; 2003. Google Scholar Dokal I, Vulliamy T. [haematologica.org]

For long term storage, store at -20°C in small aliquots to prevent freeze-thaw cycles. [anticorps-enligne.fr]

Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. [antibodies.com]