Congenital hematologic diseases lending themselves to study using hES cells
Disease . | OMIM* . | Genes . | Blood phenotype . |
|---|---|---|---|
| Fanconi anemia | 227650 | Several including BRCA2 | Aplastic anemia, pancytopenia, MDS, AML |
| TAR syndrome | 274000 | Unknown | Pancytopenia, anemia, hypercellular marrow, granulocytosis |
| Severe congenital neutropenia | 202700 | Neutrophil elastase | Myeloid arrest, AML, agranulocytosis |
| Shwachman-Diamond syndrome | 260400 | SBDS | Anemia, thrombocytopenia, pancytopenia, MDS, AML |
| Diamond-Blackfan anemia | 205900 | Ribosomal protein S19, unknown | Macrocytic anemia, thrombocytopenia, fetal hemoglobin |
| Trisomy 21 | 190685 | N/A | Transient myeloproliferative disease, DS-AMKL |
| Chuvash polycythemia | 263400 | VHL | Erythrocytosis, increased erythropoietin |
| Neurofibromatosis type 1 | 162200 | Neurofibromin | JMML |
| Lesch-Nyhan syndrome | 300322 | HPRT1 | Megaloblastic anemia |
| SCID | 601457 | Several including ADA, RAG1/2 | Lymphopenia, lack of mature B and T cells |
| α-thalassemia | 141800 | α-globin | Methemoglobinemia, polycythemia, hemolysis |
| β-thalassemia | 141900 | β-globin | Anemia, hypochromic microcytes, splenomegaly |
| Sickle cell anemia | 603903 | β-globin | Anemia, septicemia, microvascular occlusion |
Disease . | OMIM* . | Genes . | Blood phenotype . |
|---|---|---|---|
| Fanconi anemia | 227650 | Several including BRCA2 | Aplastic anemia, pancytopenia, MDS, AML |
| TAR syndrome | 274000 | Unknown | Pancytopenia, anemia, hypercellular marrow, granulocytosis |
| Severe congenital neutropenia | 202700 | Neutrophil elastase | Myeloid arrest, AML, agranulocytosis |
| Shwachman-Diamond syndrome | 260400 | SBDS | Anemia, thrombocytopenia, pancytopenia, MDS, AML |
| Diamond-Blackfan anemia | 205900 | Ribosomal protein S19, unknown | Macrocytic anemia, thrombocytopenia, fetal hemoglobin |
| Trisomy 21 | 190685 | N/A | Transient myeloproliferative disease, DS-AMKL |
| Chuvash polycythemia | 263400 | VHL | Erythrocytosis, increased erythropoietin |
| Neurofibromatosis type 1 | 162200 | Neurofibromin | JMML |
| Lesch-Nyhan syndrome | 300322 | HPRT1 | Megaloblastic anemia |
| SCID | 601457 | Several including ADA, RAG1/2 | Lymphopenia, lack of mature B and T cells |
| α-thalassemia | 141800 | α-globin | Methemoglobinemia, polycythemia, hemolysis |
| β-thalassemia | 141900 | β-globin | Anemia, hypochromic microcytes, splenomegaly |
| Sickle cell anemia | 603903 | β-globin | Anemia, septicemia, microvascular occlusion |
TAR indicates thrombocytopenia-absent radius; SCID, severe combined immunodeficiency; BRCA2, breast cancer type 2 gene; MDS, myelodysplastic syndrome; AML, acute myelogenous leukemia; SBDS, Shwachman-Bodie-Diamond syndrome gene; DS-AMKL, Down syndrome-associated acute megakaryoblastic leukemia; VHL, von Hippel-Lindau gene; JMML, juvenile myelomonocytic leukemia; HPRT, hypoxanthine guanine phosphoribosyltransferase 1 gene; ADA, adenosine deaminase; RAG, recombination activating gene.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.