Bone marrow failure

The bone marrow failure syndromes include a group of disorders than can be either inherited or acquired. These diseases are disorders of the hematopoietic stem cell that can involve either one cell line or all of the cell lines (erythroid for red cells, myeloid for white blood cells, megakaryocytic for platelets). The lymphocytes, which are involved in lymphoproliferative disorders, are usually spared. The inherited bone marrow failure syndromes include Fanconi anemia, dyskeratosis congenital, Diamond-Blackfan anemia, and other genetic disorders. The most common cause of acquired bone marrow failure is aplastic anemia. Other diseases that can present in a manner similar to acquired bone marrow failure include myelodysplastic syndromes, paroxysmal nocturnal hemoglobinuria, and large granular lymphocyte leukemia.

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
614083 Fanconi anemia, complementation group L (FANCL) FANCL skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 43-KD FA-L
FAAP43
PHF9
Fanconi anemia (FA) pathway
227645 Fanconi anemia, complementation group C (FANCC) FANCC skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI PANCYTOPENIA, TYPE 3 FANCC
FACC
FAC
FA3
Fanconi anemia (FA) pathway
127550 dyskeratosis congenita autosomal dominant (ADDKC) TERT (telomerase catalytic subunit), DKC1 blood cell cancer, risk of malignant disease, skin problem, bone marrow failure dyskeratosis congenita Scoggins type telomere maintenance
614087 Fanconi anemia, complementation group M (FANCM) FANCM skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FA-M
FAAP250
Fanconi anemia (FA) pathway
600901 Fanconi anemia, complementation group E (FANCE) FANCE skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCE
FACE
Fanconi anemia (FA) pathway
603467 Fanconi anemia, complementation group F (FANCF) FANCF skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCF
FA-F
Fanconi anemia (FA) pathway
614082 Fanconi anemia, complementation group G (FANCG) FANCG (XRCC9) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCG
FAG
FA-G
Fanconi anemia (FA) pathway
609054 Fanconi anemia, complementation group J (FANCJ) BACH1/BRIP1 (FANCJ) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCJ
FAJ
FA-J
Fanconi anemia (FA) pathway
300514 Fanconi anemia, complementation group B (FANCB) FANCB skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE 95-KD FANCB
FA-B
FAAP95
FAAP90
FLJ34064
Fanconi anemia (FA) pathway
227650 Fanconi anemia, complementation group A (FANCA) FANCA skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCA GENE FANCA
FA-A
FACA
FAA
Fanconi anemia (FA) pathway
609053 Fanconi anemia, complementation group I (FANCI) FANCI skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCI Fanconi anemia (FA) pathway
610832 Fanconi anemia, complementation group N (FANCN) FANCN (PALB2) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure Fanconi N FA-N Fanconi anemia (FA) pathway

Last modification date: Aug. 21, 2011