Other aplastic anemias and other bone marrow failure syndromes (D61)
Clinical Information
BRCA2 Protein - A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
Fanconi Anemia - Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Fanconi Anemia Complementation Group A Protein - A Fanconi anemia complementation group protein that is the most commonly mutated protein in FANCONI ANEMIA. It undergoes PHOSPHORYLATION by PROTEIN KINASE B and forms a complex with FANCC PROTEIN in the CELL NUCLEUS.
Fanconi Anemia Complementation Group C Protein - A Fanconi anemia complementation group protein that regulates the activities of CYTOCHROME P450 REDUCTASE and GLUTATHIONE S-TRANSFERASE. It is found predominately in the CYTOPLASM, but moves to the CELL NUCLEUS in response to FANCE PROTEIN.
Fanconi Anemia Complementation Group D2 Protein - A Fanconi anemia complementation group protein that undergoes mono-ubiquitination by FANCL PROTEIN in response to DNA DAMAGE. Also, in response to IONIZING RADIATION it can undergo PHOSPHORYLATION by ataxia telangiectasia mutated protein. Modified FANCD2 interacts with BRCA2 PROTEIN in a stable complex with CHROMATIN, and it is involved in DNA REPAIR by homologous RECOMBINATION.
Fanconi Anemia Complementation Group E Protein - A Fanconi anemia complementation group protein that interacts with FANCC PROTEIN and FANCD2 PROTEIN. It promotes the accumulation of FANCC protein in the CELL NUCLEUS.
Fanconi Anemia Complementation Group F Protein - A Fanconi anemia complementation group protein. It is an essential component of a nuclear core complex that protects the GENOME against CHROMOSOMAL INSTABILITY. It interacts directly with FANCG PROTEIN and helps stabilize a complex with FANCA PROTEIN and FANCC PROTEIN.
Fanconi Anemia Complementation Group G Protein - A Fanconi anemia complementation group protein that undergoes PHOSPHORYLATION by CDC2 PROTEIN KINASE during MITOSIS. It forms a complex with other FANCONI ANEMIA PROTEINS and helps protect CELLS from DNA DAMAGE by genotoxic agents.
Fanconi Anemia Complementation Group L Protein - An E3 UBIQUITIN LIGASE that plays a key role in the DNA damage response pathway of FANCONI ANEMIA PROTEINS. It is associated with mono-ubiquitination of FANCD2 PROTEIN and the redistribution of FANCD2 to nuclear foci containing BRCA1 PROTEIN.
Fanconi Anemia Complementation Group N Protein - A Fanconi anemia complementation group protein that contains an N-terminal DNA-binding region and seven, C-terminal, WD REPEATS. It is an essential factor in HOMOLOGOUS RECOMBINATION DNA REPAIR through its interactions with BRCA2 PROTEIN; RAD51 RECOMBINASE; and BRCA1 PROTEIN. It functions as a molecular scaffold to localize and stabilize these proteins at homologous recombination sites. Mutations in the PALB2 gene are associated with FANCONI ANEMIA complementation group N; type 3 PANCREATIC NEOPLASMS; and susceptibility to BREAST CANCER.
Fanconi Anemia Complementation Group Proteins - A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.
Pancytopenia - Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.
Instructional Notations
Type 2 Excludes
A type 2 excludes note represents "Not included here". An excludes2 note indicates that the condition excluded is not part of the condition represented by the code, but a patient may have both conditions at the same time. When an Excludes2 note appears under a code, it is acceptable to use both the code and the excluded code together, when appropriate.
- neutropenia D70
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50–D89)
Aplastic and other anemias and other bone marrow failure syndromes (D60-D64)
D61 Other aplastic anemias and other bone marrow failure syndromes
D61.0 Constitutional aplastic anemia
- D61.01 Constitutional (pure) red blood cell aplasia
- D61.02 Shwachman-Diamond syndrome
- D61.03 Fanconi anemia NEW CODE
- D61.09 Other constitutional aplastic anemia
- D61.1 Drug-induced aplastic anemia
- D61.2 Aplastic anemia due to other external agents
- D61.3 Idiopathic aplastic anemia
D61.8 Other specified aplastic anemias and other bone marrow failure syndromes
D61.81 Pancytopenia
- D61.810 Antineoplastic chemotherapy induced pancytopenia
- D61.811 Other drug-induced pancytopenia
- D61.818 Other pancytopenia
- D61.82 Myelophthisis
- D61.89 Other specified aplastic anemias and other bone marrow failure syndromes
- D61.9 Aplastic anemia, unspecified
Other aplastic anemias and other bone marrow failure syndromes (D61)