MST
MCID: MYL058
MIFTS: 51

Myeloproliferative Syndrome, Transient (MST)

Categories: Blood diseases, Cancer diseases, Immune diseases, Liver diseases, Rare diseases
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Aliases & Classifications for Myeloproliferative Syndrome, Transient

MalaCards integrated aliases for Myeloproliferative Syndrome, Transient:

Name: Myeloproliferative Syndrome, Transient 57 71
Transient Myeloproliferative Syndrome 11 19 58 5 14
Transient Abnormal Myelopoiesis 57 11 19 58 33
Transient Myeloproliferative Disease 11 19 58 75
Leukemia, Transient, of Down Syndrome 57 12
Mst 57 11
Tam 57 11
Tmd 19 58
Transient Leukemia of Down Syndrome 11
Leukemia, Transient 57
Transient Leukemia 11

Characteristics:


Inheritance:

Possible disomic homozygosity at 21q112 57

Age Of Onset:

Transient Myeloproliferative Syndrome: Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0060888
OMIM® 57 159595
ICD10 31 D47.7
ICD10 via Orphanet 32 D47.7
UMLS via Orphanet 72 C1834582
Orphanet 58 ORPHA420611
MedGen 40 C1834582
SNOMED-CT via HPO 69 111583006 450934005
ICD11 33 2082163425
UMLS 71 C1834582

Summaries for Myeloproliferative Syndrome, Transient

GARD: 19 A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications.

MalaCards based summary: Myeloproliferative Syndrome, Transient, also known as transient myeloproliferative syndrome, is related to myeloid leukemia associated with down syndrome and thrombocytosis. An important gene associated with Myeloproliferative Syndrome, Transient is GATA1 (GATA Binding Protein 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and NF-kappaB Signaling. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and bone, and related phenotypes are leukocytosis and transient myeloproliferative syndrome

Orphanet: 58 A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications.

Disease Ontology: 11 A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome.

Wikipedia: 75 Transient myeloproliferative disease (TMD) occurs in a significant percentage of individuals born with... more...

More information from OMIM: 159595

Related Diseases for Myeloproliferative Syndrome, Transient

Diseases in the 8p11 Myeloproliferative Syndrome family:

Myeloproliferative Syndrome, Transient Myeloproliferative Disease, Autosomal Recessive

Diseases related to Myeloproliferative Syndrome, Transient via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 472)
# Related Disease Score Top Affiliating Genes
1 myeloid leukemia associated with down syndrome 30.9 GATA1 CBFA2T3
2 thrombocytosis 30.6 U2AF1 THPO MPL
3 hemorrhagic disease 30.4 THPO ITGA2B GP1BA
4 hematologic cancer 30.3 U2AF1 THPO MPL GATA2 FLT3
5 refractory anemia with excess blasts 30.2 U2AF1 GATA2
6 myeloid leukemia 30.0 U2AF1 GATA2 FLT3 CD33 CBFA2T3
7 neonatal leukemia 30.0 RBM15 MRTFA GATA1
8 juvenile myelomonocytic leukemia 29.9 U2AF1 GATA2 FLT3 CD34 CD33
9 down syndrome 29.9 HMGN1 GATA1 FLT3 ETS2 DYRK1A
10 beta-thalassemia major 29.9 ITGA2B GYPA GATA1 CD34
11 acute basophilic leukemia 29.9 U2AF1 GATA1 CD34 CD33
12 sickle cell anemia 29.9 GYPA GATA1 CD34
13 thrombosis 29.9 MPL ITGA2B ITGB3 GP1BA
14 diamond-blackfan anemia 29.8 U2AF1 THPO MPL GYPA GATA2 GATA1
15 pancytopenia 29.8 U2AF1 THPO MPL FLT3 CD7 CD34
16 hemolytic anemia 29.8 U2AF1 GYPA GATA1 CD34
17 aplastic anemia 29.7 U2AF1 THPO MPL GP1BA GATA2 GATA1
18 leukemia 29.7 U2AF1 THPO MRTFA MPL GATA2 FLT3
19 b-lymphoblastic leukemia/lymphoma 29.7 U2AF1 FLT3 CD7 CD34 CD33
20 acute leukemia 29.7 THPO MPL GATA2 GATA1 FLT3 CD7
21 acute promyelocytic leukemia 29.7 U2AF1 GATA2 GATA1 FLT3 CD7 CD34
22 leukemia, chronic lymphocytic 29.6 U2AF1 THPO FLT3 CD7 CD34 CD33
23 myelodysplastic syndrome 29.5 U2AF1 THPO MPL GYPA GP1BA GATA2
24 childhood leukemia 29.5 U2AF1 GATA1 FLT3 CD34 CD33 CBFA2T3
25 deficiency anemia 29.5 U2AF1 THPO MPL GYPA GP1BA GATA1
26 thrombocytopenia 29.4 U2AF1 THPO MPL ITGB3 ITGA2B GP1BA
27 myelofibrosis 29.4 U2AF1 THPO MPL GATA2 GATA1 FLT3
28 myeloproliferative neoplasm 29.4 U2AF1 THPO MPL ITGB3 GATA1 FLT3
29 acute erythroid leukemia 29.3 U2AF1 ITGA2B GYPA GATA2 GATA1 FLT3
30 leukemia, acute lymphoblastic 29.2 U2AF1 THPO MPL GATA2 GATA1 FLT3
31 leukemia, chronic myeloid 29.1 U2AF1 THPO MPL ITGB3 GATA2 GATA1
32 leukemia, acute myeloid 28.6 U2AF1 THPO RBM15 MPL ITGB3 ITGA2B
33 acute megakaryocytic leukemia 28.0 U2AF1 THPO RBM15 MRTFA MPL ITGB3
34 tibial muscular dystrophy 11.4
35 myopathy, tubular aggregate, 1 11.3
36 temporomandibular joint anomaly 11.2
37 tibial muscular dystrophy, tardive 11.1
38 bruxism 10.6
39 liver disease 10.5
40 headache 10.5
41 frontotemporal dementia 10.4
42 greig cephalopolysyndactyly syndrome 10.4
43 pericardial effusion 10.4
44 refractory cytopenia with multilineage dysplasia 10.4 U2AF1 GATA2
45 acquired von willebrand syndrome 10.3 U2AF1 GP1BA
46 whiplash 10.3
47 dyskeratosis congenita, autosomal dominant 6 10.3 THPO MPL
48 bleeding disorder, platelet-type, 16 10.3 ITGB3 ITGA2B
49 thrombocytopenia 1 10.3 THPO GATA1
50 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) 10.3 RBM15 MRTFA

Graphical network of the top 20 diseases related to Myeloproliferative Syndrome, Transient:



Diseases related to Myeloproliferative Syndrome, Transient

Symptoms & Phenotypes for Myeloproliferative Syndrome, Transient

Human phenotypes related to Myeloproliferative Syndrome, Transient:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 leukocytosis 30 HP:0001974
2 transient myeloproliferative syndrome 30 HP:0005534

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Lab:
leukocytosis

Misc:
usually in newborns with down syndrome
rarely in normals

Heme:
transient myeloproliferative syndrome

Clinical features from OMIM®:

159595 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Myeloproliferative Syndrome, Transient according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 CD34 CD7 GATA1 GP1BA HMGN1 ITGA2B

MGI Mouse Phenotypes related to Myeloproliferative Syndrome, Transient:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 CD33 CD34 ETS2 FLT3 GATA1 GATA2
2 cellular MP:0005384 9.97 CD34 DYRK1A ETS2 FLT3 GATA1 GATA2
3 neoplasm MP:0002006 9.87 CD34 ETS2 FLT3 HMGN1 ITGB3 RBM15
4 immune system MP:0005387 9.77 CBFA2T3 CD33 CD34 CD7 DYRK1A FLT3
5 hematopoietic system MP:0005397 9.53 CBFA2T3 CD33 CD34 CD7 DYRK1A FLT3

Drugs & Therapeutics for Myeloproliferative Syndrome, Transient

Drugs for Myeloproliferative Syndrome, Transient (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 3 55-98-1 2478
2
Fludarabine Approved Phase 3 75607-67-9, 21679-14-1 30751 657237
3
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
4
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
5
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 4112 126941
6
Mycophenolic acid Approved, Investigational Phase 3 24280-93-1 446541
7
Tacrolimus Approved, Investigational Phase 3 104987-11-3 6473866 445643
8
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
9
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
11 Folic Acid Antagonists Phase 3
12 Antirheumatic Agents Phase 3
13 Folate Phase 3
14 Alkylating Agents Phase 3
15 Anti-Bacterial Agents Phase 3
16 Antineoplastic Agents, Alkylating Phase 3
17 Anti-Infective Agents Phase 3
18 Vitamin B9 Phase 3
19 Calcineurin Inhibitors Phase 3
20 Cyclosporins Phase 3
21 Vitamin B Complex Phase 3
22 Antifungal Agents Phase 3
23 Antimetabolites Phase 3
24 Antitubercular Agents Phase 3
25 Antibiotics, Antitubercular Phase 3
26 Immunosuppressive Agents Phase 3
27 Dermatologic Agents Phase 3
28 Immunologic Factors Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multi-center Phase III Study Comparing Myeloablative to Nonmyeloablative Transplant Conditioning in Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia Completed NCT00322101 Phase 3 cyclophosphamide;mycophenolate mofetil;busulfan;cyclosporine;fludarabine phosphate;tacrolimus;methotrexate
2 A Phase I Study of MK-2206, an AKT Inhibitor, in Pediatric Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1 Akt inhibitor MK2206
3 Nonmyeloablative PBSC Allografting From HLA Matched Related Donors Using Fludarabine and/or Low Dose TBI With Disease-Risk Based Immunosuppression Completed NCT00014235 fludarabine phosphate;cyclosporine;mycophenolate mofetil

Search NIH Clinical Center for Myeloproliferative Syndrome, Transient

Genetic Tests for Myeloproliferative Syndrome, Transient

Anatomical Context for Myeloproliferative Syndrome, Transient

Organs/tissues related to Myeloproliferative Syndrome, Transient:

MalaCards : Myeloid, Bone Marrow, Bone, Liver, Fetal Liver, Placenta, T Cells

Publications for Myeloproliferative Syndrome, Transient

Articles related to Myeloproliferative Syndrome, Transient:

(show top 50) (show all 294)
# Title Authors PMID Year
1
Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis. 62 57
8644714 1996
2
Cytogenetic and molecular studies of Down syndrome individuals with leukemia. 62 57
7717402 1995
3
Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2. 62 57
1680787 1991
4
Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome. 62 57
2525515 1989
5
Leukaemia and transient leukaemia in Down syndrome. 57
2146208 1990
6
Transient neonatal leukemoid reactions in mosaic trisomy 21. 57
6229618 1984
7
Mechanism of KIT gene regulation by GATA1 lacking the N-terminal domain in Down syndrome-related myeloid disorders. 62
36447001 2022
8
A sensitive and inexpensive high-resolution melting-based testing algorithm for diagnosis of transient abnormal myelopoiesis and myeloid leukemia of Down syndrome. 62
35731576 2022
9
Down syndrome-associated transient abnormal myelopoiesis with placental involvement. 62
36467804 2022
10
Recalcitrant transient abnormal myelopoiesis in neonatal Down syndrome. 62
35293681 2022
11
Germline GATA1 exon 2 mutation associated with chronic cytopenia and a non-down syndrome transient abnormal myelopoiesis with clonal trisomy 21. 62
35941211 2022
12
Fetal Distress and Neonatal Death After Thoracoamniotic Shunting Therapy Due to Hydrops Associated With Transient Abnormal Myelopoiesis. 62
36225415 2022
13
Why Is Health Care for Children with Down Syndrome So Crucial from the First Days of Life? A Retrospective Cohort Study Emphasized Transient Abnormal Myelopoiesis (TAM) Syndrome at Three Centers. 62
35955128 2022
14
Microvesicular Steatosis with Transient Abnormal Myelopoiesis-Associated Hepatic Fibrosis. 62
35366199 2022
15
The paradox of Myeloid Leukemia associated with Down syndrome. 62
35483417 2022
16
"TAM"ing of the shrew-challenges in the diagnosis of Neonatal leukemia with Down's syndrome -A case report with literature review. 62
35900507 2022
17
Clonal Myeloproliferative Disorders in Patients with Down Syndrome-Treatment and Outcome Results from an Institution in Argentina. 62
35805057 2022
18
Accelerated epigenetic aging in newborns with Down syndrome. 62
35661546 2022
19
Myeloid cell thrombus and fetal vascular malperfusion in placentas with transient abnormal myelopoiesis. 62
35199205 2022
20
Rapid next-generation sequencing aids in diagnosis of transient abnormal myelopoiesis in a phenotypically normal newborn. 62
35090166 2022
21
Phenotypic switching to hypereosinophilia during cytoreductive therapy for transient abnormal myelopoiesis associated with Down syndrome. 62
35846025 2022
22
Transient abnormal myelopoiesis in Down syndrome: Experience of long term follow up from a single tertiary center in Thailand. 62
35608385 2022
23
Life threatening congenital hydropericardium in a newborn with Down syndrome, transient abnormal myelopoiesis, Hirschsprung disease and a ventricular septal defect. 62
35393632 2022
24
Sensitive detection of GATA1 mutations using complementary DNA-based analysis for transient abnormal myelopoiesis associated with the Down syndrome. 62
34761527 2022
25
[Myeloproliferative disorders and leukemia related to Down syndrome. Report of two clinical cases in neonatal period]. 62
35338823 2022
26
Immunophenotypic Analysis of Acute Megakaryoblastic Leukemia: A EuroFlow Study. 62
35326734 2022
27
Using the in vitro drug sensitivity test to identify candidate treatments for transient abnormal myelopoiesis. 62
34816427 2022
28
Hematological disorders in children with Down syndrome. 62
35184659 2022
29
Modeling Down Syndrome Myeloid Leukemia by Sequential Introduction of GATA1 and STAG2 Mutations in Induced Pluripotent Stem Cells with Trisomy 21. 62
35203280 2022
30
Trisomy 21, transposition of the great arteries and abnormal myelopoiesis. 62
35034684 2022
31
Advances in molecular characterization of myeloid proliferations associated with Down syndrome. 62
36035173 2022
32
Clinical and biological aspects of myeloid leukemia in Down syndrome. 62
34518645 2021
33
Recommendations for Diagnosis and Treatment of Children with Transient Abnormal Myelopoiesis (TAM) and Myeloid Leukemia in Down Syndrome (ML-DS). 62
34407551 2021
34
Retrospective diagnosis of transient abnormal myelopoiesis by using preserved dried umbilical cord. 62
34219329 2021
35
Marked thrombocytosis resulting in pseudohyperkalemia in a neonate with transient abnormal myelopoiesis. 62
33682342 2021
36
Aberrant myelomonocytic CD56 expression in Down syndrome is frequent and not associated with leukemogenesis. 62
33890142 2021
37
The in vitro effects of hepatoblastoma cells on the growth and differentiation of blasts in transient abnormal myelopoiesis associated with Down syndrome. 62
33838549 2021
38
Down syndrome with neonatal alloimmune thrombocytopenia due to anti-HLA A31 and B61 antibodies. 62
33569741 2021
39
A Novel Chromosomal Aberration in the Pathogenesis of Transient Leukemia of Down Syndrome. 62
33723680 2021
40
Predictive factors for the development of leukemia in patients with transient abnormal myelopoiesis and Down syndrome. 62
33654203 2021
41
Clinical features of 35 Down syndrome patients with transient abnormal myelopoiesis at a single institution. 62
33394336 2021
42
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies. 62
33832921 2021
43
A Case of Novel GATA-1 Mutation-positive Transient Abnormal Myelopoiesis With Life-threatening Complications in a Neonate With Down Syndrome. 62
31876781 2021
44
Neonatal Leukemia. 62
33583502 2021
45
Two patients of trisomy 21 with transient abnormal myelopoiesis with hypereosinophilia without blasts in peripheral blood smears. 62
33150826 2021
46
Transient abnormal myelopoiesis in pediatrics with trisomy 21. 62
33598211 2021
47
Down syndrome-related transient abnormal myelopoiesis is attributed to a specific erythro-megakaryocytic subpopulation with GATA1 mutation. 62
32354872 2021
48
Molecular Mechanisms of the Genetic Predisposition to Acute Megakaryoblastic Leukemia in Infants With Down Syndrome. 62
33777792 2021
49
Pluripotent stem cell model of early hematopoiesis in Down syndrome reveals quantitative effects of short-form GATA1 protein on lineage specification. 62
33780474 2021
50
SERS-Based Evaluation of the DNA Methylation Pattern Associated With Progression in Clonal Leukemogenesis of Down Syndrome. 62
34368097 2021

Variations for Myeloproliferative Syndrome, Transient

ClinVar genetic disease variations for Myeloproliferative Syndrome, Transient:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA1 NM_002049.4(GATA1):c.49_50del (p.Gln17fs) DEL Pathogenic
998062 rs2062673530 GRCh37: X:48649565-48649566
GRCh38: X:48791158-48791159
2 GATA1 NM_002049.4(GATA1):c.219del (p.Val74fs) DEL Pathogenic
998063 rs2062674491 GRCh37: X:48649735-48649735
GRCh38: X:48791328-48791328
3 GATA1 NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs) INDEL Pathogenic
998064 rs2062674043 GRCh37: X:48649667-48649702
GRCh38: X:48791260-48791295
4 GATA1 NM_002049.4(GATA1):c.4dup (p.Glu2fs) DUP Pathogenic
998065 rs2062673272 GRCh37: X:48649518-48649519
GRCh38: X:48791111-48791112

Expression for Myeloproliferative Syndrome, Transient

Search GEO for disease gene expression data for Myeloproliferative Syndrome, Transient.

Pathways for Myeloproliferative Syndrome, Transient

GO Terms for Myeloproliferative Syndrome, Transient

Cellular components related to Myeloproliferative Syndrome, Transient according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.36 MPL ITGB3 ITGA2B GP1BA CD34 CD33

Biological processes related to Myeloproliferative Syndrome, Transient according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of megakaryocyte differentiation GO:0045654 9.76 THPO GATA2
2 positive regulation of mast cell degranulation GO:0043306 9.73 GATA2 GATA1
3 megakaryocyte differentiation GO:0030219 9.71 THPO GATA1
4 hemopoiesis GO:0030097 9.7 MPL GATA2 FLT3 CD34
5 vascular wound healing GO:0061042 9.67 GATA2 CD34
6 regulation of primitive erythrocyte differentiation GO:0010725 9.62 GATA1 GATA2
7 eosinophil fate commitment GO:0035854 9.56 GATA1 GATA2
8 platelet aggregation GO:0070527 9.56 MPL ITGB3 GP1BA GATA1
9 system development GO:0048731 9.48 GATA2 GATA1
10 thrombopoietin-mediated signaling pathway GO:0038163 9.1 THPO RBM15 MPL

Molecular functions related to Myeloproliferative Syndrome, Transient according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.23 GATA2 GATA1 ETS2 CD34

Sources for Myeloproliferative Syndrome, Transient

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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