Features of inherited bone narrow and myeloid malignancy predisposition syndromes that may present as aplastic anemia/hypocellular marrow
| Disease . | Presentation . | Useful clinical resources . |
|---|---|---|
| Amegakaryocytic thromobocytopenia | Nonsyndromic thrombocytopenia, pancytopenia, BM failure | https://www.pdsa.org/inherited-thrombocytopenia.html |
| Diamond-Blackfan anemia | Macrocytic anemia with reticulocytopenia, congenital anomalies/short stature | https://dbafoundation.org/ https://www.dbar.org/ |
| Dyskeratosis congenita | Triad of abnormal skin pigmentation, oral leukoplakia, and nail dystrophy; aplastic anemia, pulmonary fibrosis | https://teamtelomere.org/ |
| Fanconi anemia | Cytopenias, congenital malformations, cancer at a young age, sensitivity to toxic effects of chemotherapy or radiation, MDS/AML | https://www.fanconi.org/ |
| RUNX1 | Thrombocytopenia, MDS/AML | https://www.runx1-fpd.org/ |
| GATA-2 deficiency | Recurrent infections, lymphedema, warts, pulmonary alveolar proteinosis, MDS/AML | https://rarediseases.org/gard-rare-disease/gata2-deficiency/ |
| SAMD9/9L disorders | MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy), MDS/AML | https://www.stjude.org/samd9 |
| Severe congenital neutropenia | Neutropenia, recurrent bacterial infections | https://neutropenianet.org/ |
| Shwachman-Diamond syndrome | Neutropenia, exocrine pancreatic insufficiency, MDS/AML | http://sdsregistry.org/ |
| Disease . | Presentation . | Useful clinical resources . |
|---|---|---|
| Amegakaryocytic thromobocytopenia | Nonsyndromic thrombocytopenia, pancytopenia, BM failure | https://www.pdsa.org/inherited-thrombocytopenia.html |
| Diamond-Blackfan anemia | Macrocytic anemia with reticulocytopenia, congenital anomalies/short stature | https://dbafoundation.org/ https://www.dbar.org/ |
| Dyskeratosis congenita | Triad of abnormal skin pigmentation, oral leukoplakia, and nail dystrophy; aplastic anemia, pulmonary fibrosis | https://teamtelomere.org/ |
| Fanconi anemia | Cytopenias, congenital malformations, cancer at a young age, sensitivity to toxic effects of chemotherapy or radiation, MDS/AML | https://www.fanconi.org/ |
| RUNX1 | Thrombocytopenia, MDS/AML | https://www.runx1-fpd.org/ |
| GATA-2 deficiency | Recurrent infections, lymphedema, warts, pulmonary alveolar proteinosis, MDS/AML | https://rarediseases.org/gard-rare-disease/gata2-deficiency/ |
| SAMD9/9L disorders | MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy), MDS/AML | https://www.stjude.org/samd9 |
| Severe congenital neutropenia | Neutropenia, recurrent bacterial infections | https://neutropenianet.org/ |
| Shwachman-Diamond syndrome | Neutropenia, exocrine pancreatic insufficiency, MDS/AML | http://sdsregistry.org/ |