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Myeloid Neoplasms with Germline Predisposition (view source)
Revision as of 12:13, 5 April 2020
, 12:13, 5 April 2020→Additional Information
==Additional Information==
==Additional Information==
* ''ANKRD26 (OMIM: 610855)'' has been associated with thrombocytopenia 2 (OMIM: 188000, <nowiki>https://www.omim.org/entry/188000</nowiki>).
* ''CEBPA (OMIM: 116897)'' has been associated with acute myeloid leukemia (OMIM: 601626, <nowiki>https://www.omim.org/entry/601626</nowiki>).
* ''DDX41'' ''(OMIM: 608170)'' has been associated with susceptibility to multiple types of familial myeloproliferative/lymphoproliferative neoplasms (OMIM: 616871, <nowiki>https://www.omim.org/entry/616871</nowiki>).
* ''ETV6'' ''(OMIM: 600618)'' has been associated with thrombocytopenia 5 (OMIM: 616216, <nowiki>https://www.omim.org/entry/616216</nowiki>).
''3. DDX41'' ''(OMIM: 608170)'' has been associated with susceptibility to multiple types of familial myeloproliferative/lymphoproliferative neoplasms (OMIM: 616871, <nowiki>https://www.omim.org/entry/616871</nowiki>).
* ''GATA2 (OMIM: 137295)'' has been associated with susceptibility to acute myeloid leukemia (OMIM: 601626, <nowiki>https://www.omim.org/entry/601626</nowiki>).
* ''RUNX1'' ''(OMIM: 151385)'' has been associated with acute myeloid leukemia (OMIM: 601626) and familial platelet disorder with associated myeloid malignancy (OMIM: 601399, <nowiki>https://www.omim.org/entry/601399</nowiki>).
''4. ETV6'' ''(OMIM: 600618)'' has been associated with thrombocytopenia 5 (OMIM: 616216, <nowiki>https://www.omim.org/entry/616216</nowiki>).
* ''DDX41'' ''(OMIM: 608170)'' has been associated with susceptibility to multiple types of familial myeloproliferative/lymphoproliferative neoplasms (OMIM: 616871, <nowiki>https://www.omim.org/entry/616871</nowiki>).
* ''SAMD9'' ''(OMIM: 610456)'' has been associated with Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy (MIRAGE syndrome, OMIM: 617053, <nowiki>https://www.omim.org/entry/617053</nowiki>).
''5. GATA2 (OMIM: 137295)'' has been associated with susceptibility to acute myeloid leukemia (OMIM: 601626, <nowiki>https://www.omim.org/entry/601626</nowiki>).
* ''SAMD9L'' ''(OMIM: 611170)'' has been associated with ataxia-pancytopenia syndrome, or myelocerebellar disorder, ataxia-pancytopenia syndrome (OMIM: 159550, <nowiki>https://www.omim.org/entry/159550</nowiki>).
* ''SRP72'' ''(OMIM: 602122)'' has been associated with bone marrow failure syndrome 1 (OMIM: 614675, <nowiki>https://www.omim.org/entry/614675</nowiki>).
''6. RUNX1'' ''(OMIM: 151385)'' has been associated with acute myeloid leukemia (OMIM: 601626) and familial platelet disorder with associated myeloid malignancy (OMIM: 601399, <nowiki>https://www.omim.org/entry/601399</nowiki>).
* ''TP53'' ''(OMIM: 191170)'' has been associated with Li-Fraumeni syndrome (OMIM: 151623, <nowiki>https://www.omim.org/entry/151623</nowiki>).
* ''BLM'' ''(OMIM: 604610)'' has been associated with Bloom syndrome (OMIM: 210900, <nowiki>https://www.omim.org/entry/210900</nowiki>).
''7. DDX41'' ''(OMIM: 608170)'' has been associated with susceptibility to multiple types of familial myeloproliferative/lymphoproliferative neoplasms (OMIM: 616871, <nowiki>https://www.omim.org/entry/616871</nowiki>).
* Constitutional mismatch repair deficiency (OMIM: 276300, <nowiki>https://www.omim.org/entry/276300</nowiki>)
* Neurofibromatosis type I (NF1, OMIM: 162200, <nowiki>https://www.omim.org/entry/162200</nowiki>)
''8. SAMD9'' ''(OMIM: 610456)'' has been associated with Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy (MIRAGE syndrome, OMIM: 617053, <nowiki>https://www.omim.org/entry/617053</nowiki>).
* Nijmegen breakage syndrome (NBS, OMIM: 251260, <nowiki>https://www.omim.org/entry/251260</nowiki>)
* Noonan syndrome (please see Genetic heterogeneity of Noonan syndrome at <nowiki>https://www.omim.org/entry/163950</nowiki>
''9. SAMD9L'' ''(OMIM: 611170)'' has been associated with ataxia-pancytopenia syndrome, or myelocerebellar disorder, ataxia-pancytopenia syndrome (OMIM: 159550, <nowiki>https://www.omim.org/entry/159550</nowiki>).
* Fanconi anemia (FA, please see Genetic heterogeneity of Fanconi anemia at <nowiki>https://www.omim.org/entry/227650</nowiki>),
* Dyskeratosis congenital (DC, please see Genetic heterogeneity of dyskeratosis congenital at <nowiki>https://www.omim.org/entry/127550</nowiki>).
''10. SRP72'' ''(OMIM: 602122)'' has been associated with bone marrow failure syndrome 1 (OMIM: 614675, <nowiki>https://www.omim.org/entry/614675</nowiki>).
* Severe congenital neutropenia (SCN, please see Genetic heterogeneity of severe congenital neutropenia at <nowiki>https://www.omim.org/entry/202700</nowiki>)
* Shwachman-Diamond syndrome 1 (SDS1, OMIM: 260400, <nowiki>https://www.omim.org/entry/260400</nowiki>) and Shwachman-Diamond syndrome 2 (SDS2, OMIM: 617941, <nowiki>https://www.omim.org/entry/617941</nowiki>)
''11. TP53'' ''(OMIM: 191170)'' has been associated with Li-Fraumeni syndrome (OMIM: 151623, <nowiki>https://www.omim.org/entry/151623</nowiki>).
* Diamond Blackfan anemia (DBA, please see Genetic heterogeneity of Diamond Blackfan anemia at <nowiki>https://www.omim.org/entry/105650</nowiki>).
''12. BLM'' ''(OMIM: 604610)'' has been associated with Bloom syndrome (OMIM: 210900, <nowiki>https://www.omim.org/entry/210900</nowiki>).
==References==
==References==