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]

• Anemia

  complementation group D2, CG17269-PA, Fancd2-PA, Fanconi anemia group D2 protein-like, fanconi anemia protein FANCD2, Fanconi anemia complementation group D2, Fanconi anemia group D2 protein, Fanconi anemia group D2 protein homolog, Fanconi anemia D2 [anticorps-enligne.fr]

  PMID 9292505 Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. [atlasgeneticsoncology.org]

  Functional analysis of Fanconi anemia mutations in China. [cancerindex.org]

• Hyperpigmentation

  Diamond-Blackfan anemia and amegakaryocytic thrombocytopenia.2,3 FA patients often, but not always, present with a combination of various congenital abnormalities (short stature; thumb and radius deformities; microphtalmia and peculiar facies; skin hyperpigmentation [haematologica.org]

• Low Set Ears

  Attention deficit hyperactivity disorder Corpus callosum, agenesis of Hydrocephalus Hypoplasia of the corpus callosum Intellectual disability Microcephaly Abnormality of the respiratory system Tracheoesophageal fistula Ear malformation Hearing impairment Low-set [ncbi.nlm.nih.gov]

• Cytopenia

  For all cases, cytopenia was defined as peripheral blood Hb<10.0 g/dL, neutrophils<×10/L and/or platelets<100×10/L. [haematologica.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]