Familial Platelet Disorder with Associated Myeloid Malignancy

Also Known As:

Platelet Disorder, Familial, with Associated Myeloid Malignancy; FPDAML; FPDMM; Platelet Disorder, Aspirin-Like; Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia

Networked: 6 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Myelodysplastic Syndromes (Myelodysplastic Syndrome)
3.	Leukemia
4.	Familial Platelet Disorder with Associated Myeloid Malignancy

Experts

1.	Bagga, Sumedha: 1 article (01/2021)
2.	Borst, Sara: 1 article (01/2021)
3.	Estevez, Brian: 1 article (01/2021)
4.	French, Deborah L: 1 article (01/2021)
5.	Gadue, Paul: 1 article (01/2021)
6.	Gao, Peng: 1 article (01/2021)
7.	Garifallou, James: 1 article (01/2021)
8.	Gonzalez, Michael: 1 article (01/2021)
9.	Hakonarson, Hakon: 1 article (01/2021)
10.	Holdreith, Nicholas: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Platelet Disorder with Associated Myeloid Malignancy:

1.	Immunoglobulin G (IgG)IBA 10/23/2023 - "In previous studies, we found that platelet albumin, fibrinogen and IgG levels were decreased in a FPDMM patient. " 10/23/2023 - "We now show that platelet endocytosis of fluorescent-labeled albumin, fibrinogen and IgG is decreased in the patient and his daughter with FPDMM. "
2.	Fibrinogen (Factor I)FDA Link 10/23/2023 - "In previous studies, we found that platelet albumin, fibrinogen and IgG levels were decreased in a FPDMM patient. " 10/23/2023 - "We now show that platelet endocytosis of fluorescent-labeled albumin, fibrinogen and IgG is decreased in the patient and his daughter with FPDMM. "
3.	AlbuminsIBA 10/23/2023 - "In previous studies, we found that platelet albumin, fibrinogen and IgG levels were decreased in a FPDMM patient. " 10/23/2023 - "We now show that platelet endocytosis of fluorescent-labeled albumin, fibrinogen and IgG is decreased in the patient and his daughter with FPDMM. "
4.	Transcription Factors (Transcription Factor)IBA 01/01/2021 - "Patients with familial platelet disorder with a predisposition to myeloid malignancy (FPDMM) harbor germline monoallelic mutations in a key hematopoietic transcription factor, RUNX-1. " 01/28/2023 - "The transcription factor RUNX1 is mutated in familial platelet disorder with associated myeloid malignancies (FPDMM) and in sporadic myelodysplastic syndrome and leukemia. " 01/01/2023 - "The transcription factor RUNX1 is mutated in familial platelet disorder with associated myeloid malignancy (FPDMM) and in sporadic myelodysplastic syndrome and leukemia. "
5.	Core Binding Factor Alpha 2 SubunitIBA 01/01/2023 - "Heterozygous defects in runt-related transcription factor 1 (RUNX1) are causative of a familial platelet disorder with associated myeloid malignancy (FPDMM). "
6.	JNK Mitogen-Activated Protein KinasesIBA 01/01/2021 - "Immunoblot analyses in FPDMM iMks were consistent with these findings, but also identified augmented baseline c-Jun N-terminal kinase (JNK) phosphorylation, known to be activated by transforming growth factor-β1 (TGF-β1) and cellular stressors. "
7.	Small Interfering RNA (siRNA)IBA 01/01/2023 - "We previously reported an in vitro megakaryopoiesis system comprising human CD34+ hematopoietic stem and progenitor cells that recapitulated the FPDMM quantitative megakaryocyte defect through a decrease in RUNX1 expression via a lentiviral short hairpin RNA strategy. "
8.	Protein Isoforms (Isoforms)IBA 11/01/2023 - "We investigated the RUNX1 transcript isoform patterns in the proband and his sister, who carries the same germline RUNX1R204* variant, and has FPDMM but no MM. We demonstrate a RUNX1a increase in MDS-RS, as previously reported in MM. Interestingly, we identify a striking unbalance of RUNX1b and -c in FPDMM. "
9.	RNA (Ribonucleic Acid)IBA 01/01/2021 - "To investigate global and local gene expression changes underlying this iHPC shift, single-cell RNA sequencing was performed on sorted FPDMM and control iHPCs. "
10.	Hemostatics (Antihemorrhagics)IBA 01/01/2023 - "Thus, this model recapitulates the defects in FPDMM megakaryocytes and platelets, identifies previously unrecognized defects in thrombopoiesis and platelet half-life, and demonstrates for the first time, reversal of RUNX1 deficiency-induced hemostatic defects by a drug."