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MST
MCID: MYL058
MIFTS: 48

Myeloproliferative Syndrome, Transient (MST)

Categories: Blood diseases, Cancer diseases, Immune diseases, Liver diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Myeloproliferative Syndrome, Transient

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MalaCards integrated aliases for Myeloproliferative Syndrome, Transient:

Name: Myeloproliferative Syndrome, Transient 57 70
Transient Myeloproliferative Syndrome 12 20 58 6 15
Transient Abnormal Myelopoiesis 57 12 20 58
Transient Myeloproliferative Disease 12 20 58
Leukemia, Transient, of Down Syndrome 57 13
Mst 57 12
Tam 57 12
Tmd 20 58
Transient Abnormal Myelopoiesis; Tam 57
Transient Leukemia of Down Syndrome 12
Leukemia, Transient 57
Transient Leukemia 12

Characteristics:

Orphanet epidemiological data:

58
transient myeloproliferative syndrome
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
possible disomic homozygosity at 21q11.2


Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Blood diseases Immune diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060888
OMIM® 57 159595
ICD10 32 D47.7
ICD10 via Orphanet 33 D47.7
UMLS via Orphanet 71 C1834582
Orphanet 58 ORPHA420611
MedGen 41 C1834582
SNOMED-CT via HPO 68 111583006 450934005
UMLS 70 C1834582
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Summaries for Myeloproliferative Syndrome, Transient

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Disease Ontology : 12 A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome.

MalaCards based summary : Myeloproliferative Syndrome, Transient, also known as transient myeloproliferative syndrome, is related to acute megakaryocytic leukemia and myopathy, tubular aggregate, 1. An important gene associated with Myeloproliferative Syndrome, Transient is GATA1 (GATA Binding Protein 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Mesodermal Commitment Pathway. The drugs Fludarabine and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and myeloid, and related phenotypes are leukocytosis and transient myeloproliferative syndrome

More information from OMIM: 159595
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Related Diseases for Myeloproliferative Syndrome, Transient

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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 310)
# Related Disease Score Top Affiliating Genes
1 acute megakaryocytic leukemia 30.0 MPL ITGA2B GATA1 DYRK1A
2 myopathy, tubular aggregate, 1 11.5
3 tibial muscular dystrophy 11.4
4 tibial muscular dystrophy, tardive 11.3
5 liver disease 10.5
6 bruxism 10.5
7 headache 10.4
8 rare tumor 10.4 NF2 LATS2
9 malignant epithelioid hemangioendothelioma 10.4 YAP1 WWTR1
10 epithelioid hemangioendothelioma 10.4 YAP1 WWTR1
11 histiocytoid hemangioma 10.4 YAP1 WWTR1
12 hemopericardium 10.4
13 pericardial effusion 10.4
14 peritoneal mesothelioma 10.4 NF2 LATS2 LATS1
15 acquired thrombocytopenia 10.4 MPL ITGA2B
16 spinal cord ependymoma 10.3 YAP1 NF2
17 gastric fundus cancer 10.3 YAP1 TEAD1
18 sveinsson chorioretinal atrophy 10.3 YAP1 WWTR1 TEAD1
19 splenic sequestration 10.3 MPL ITGA2B
20 cerebral cavernous malformations 3 10.3 STK25 STK24
21 bernard-soulier syndrome 10.3 MPL ITGA2B GATA1
22 x-linked recessive disease 10.3 SAV1 MSTN LATS1
23 whiplash 10.3
24 syndromic x-linked intellectual disability 10.3 YAP1 WWC1 SAV1 LATS2 LATS1
25 myxopapillary ependymoma 10.3 YAP1 NF2
26 myeloid leukemia associated with down syndrome 10.3
27 greig cephalopolysyndactyly syndrome 10.2
28 meningioma, familial 10.2 TEAD1 NF2 LATS2 AMOT
29 blood platelet disease 10.2 MPL ITGA2B GATA1
30 respiratory failure 10.2
31 syndromic intellectual disability 10.2 YAP1 WWC1 SAV1 LATS2 LATS1 DYRK1A
32 fibromyalgia 10.2
33 high grade ependymoma 10.2 YAP1 NF2
34 myelodysplastic syndrome 10.2
35 hypothyroidism 10.2
36 thrombocytosis 10.2
37 bilirubin metabolic disorder 10.2
38 blood coagulation disease 10.2 MPL ITGA2B GATA1
39 temporomandibular joint anomaly 10.2
40 glioblastoma 10.1
41 substance abuse 10.1
42 pik3ca-related overgrowth syndrome 10.1
43 adult t-cell leukemia 10.1
44 neutropenia 10.1
45 post-traumatic stress disorder 10.1
46 t-cell lymphoblastic leukemia/lymphoma 10.1
47 leukemia, t-cell, chronic 10.1
48 cerebral ventricle cancer 10.1 YAP1 NF2
49 migraine with or without aura 1 10.1
50 yemenite deaf-blind hypopigmentation syndrome 10.0

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



Diseases related to Myeloproliferative Syndrome, Transient
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Symptoms & Phenotypes for Myeloproliferative Syndrome, Transient

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Human phenotypes related to Myeloproliferative Syndrome, Transient:

31
# Description HPO Frequency HPO Source Accession
1 leukocytosis 31 HP:0001974
2 transient myeloproliferative syndrome 31 HP:0005534

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Lab:
leukocytosis

Misc:
usually in newborns with down syndrome
rarely in normals

Heme:
transient myeloproliferative syndrome

Clinical features from OMIM®:

159595 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Myeloproliferative Syndrome, Transient:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 AMOT DYRK1A GATA1 ITGA2B LATS1 LATS2
2 growth/size/body region MP:0005378 10.24 AMOT DYRK1A GATA1 ITGA2B LATS1 LATS2
3 cardiovascular system MP:0005385 10.23 AMOT DYRK1A GATA1 ITGA2B LATS1 LATS2
4 homeostasis/metabolism MP:0005376 10.17 ERLEC1 GATA1 ITGA2B LATS1 LATS2 MPL
5 embryo MP:0005380 10.14 AMOT DYRK1A GATA1 ITGA2B LATS2 MPL
6 immune system MP:0005387 10.03 DYRK1A ERLEC1 GATA1 ITGA2B LATS1 MPL
7 mortality/aging MP:0010768 9.89 AMOT DYRK1A GATA1 ITGA2B LATS1 LATS2
8 liver/biliary system MP:0005370 9.85 DYRK1A GATA1 LATS1 LATS2 MSTN NF2
9 nervous system MP:0003631 9.4 AMOT DYRK1A ERLEC1 ITGA2B LATS1 LATS2
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Drugs & Therapeutics for Myeloproliferative Syndrome, Transient

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved 21679-14-1, 75607-67-9 30751
2
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
3
Mycophenolic acid Approved 24280-93-1 446541
4
Clotrimazole Approved, Vet_approved 23593-75-1 2812
5 Anti-Infective Agents
6 Antirheumatic Agents
7 Anti-Bacterial Agents
8 Antibiotics, Antitubercular
9 Immunosuppressive Agents
10 Cyclosporins
11 Calcineurin Inhibitors
12 Antimetabolites
13 Antifungal Agents
14 Immunologic Factors
15 Antitubercular Agents
16 Dermatologic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

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Genetic Tests for Myeloproliferative Syndrome, Transient

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Anatomical Context for Myeloproliferative Syndrome, Transient

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MalaCards organs/tissues related to Myeloproliferative Syndrome, Transient:

40
Liver, Lung, Myeloid, Brain, Spinal Cord, Thyroid, Breast
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Publications for Myeloproliferative Syndrome, Transient

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Articles related to Myeloproliferative Syndrome, Transient:

(show all 23)
# Title Authors PMID Year
1
Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2. 61 57
1680787 1991
2
Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome. 61 57
2525515 1989
3
Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis. 57
8644714 1996
4
Cytogenetic and molecular studies of Down syndrome individuals with leukemia. 57
7717402 1995
5
Leukaemia and transient leukaemia in Down syndrome. 57
2146208 1990
6
Transient neonatal leukemoid reactions in mosaic trisomy 21. 57
6229618 1984
7
Transient myeloproliferative syndrome associated with Down syndrome. 61
23084883 2013
8
Biology and management of transient abnormal myelopoiesis (TAM) in children with Down syndrome. 61
22421527 2012
9
Clinicopathological features of transient myeloproliferative syndrome and congenital leukaemia. 61
20810047 2010
10
GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. 61
12586620 2003
11
Transient myeloproliferative syndrome/transient acute myeloid leukemia in a newborn with Down syndrome: a case report and literature review. 61
12661826 2003
12
Lineage-specific trisomy 21 in a neonate with resolving transient myeloproliferative syndrome. 61
11990311 2002
13
Down syndrome, transient myeloproliferative syndrome, and leukemia: bridging development and neoplasia. 61
11902730 2002
14
Myelodysplastic and myeloproliferative disorders of childhood: a study of 167 patients. 61
9885207 1999
15
A fetus with Down syndrome and intratubular germ cell neoplasia. 61
8963620 1996
16
Down's syndrome with transient myeloproliferative syndrome. 61
2147168 1990
17
[Transient myeloproliferative syndrome or congenital leukemia in a newborn infant with Down syndrome?]. 61
2534337 1989
18
[Pediatric neoplasms]. 61
3172503 1988
19
Infants with Down's syndrome. Use of cytogenetic studies and in vitro colony assay for granulocyte progenitor to distinguish acute nonlymphocytic leukemia from a transient myeloproliferative disorder. 61
2955884 1987
20
Leukemia with Down's syndrome: translocation between chromosomes 1 and 19 in acute myelomonocytic leukemia following transient congenital myeloproliferative syndrome. 61
2415189 1985
21
Transient myeloproliferative syndrome in a phenotypically normal infant. 61
4037246 1985
22
In vitro cell growth in neonates with Down's syndrome and transient myeloproliferative disorder. 61
6456025 1981
23
Congenital leukaemia and the neonatal myeloproliferative disorders associated with Down's syndrome. 61
148990 1978
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Variations for Myeloproliferative Syndrome, Transient

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ClinVar genetic disease variations for Myeloproliferative Syndrome, Transient:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA1 NM_002049.4(GATA1):c.49_50del (p.Gln17fs) Deletion Pathogenic 998062 GRCh37: X:48649565-48649566
GRCh38: X:48791158-48791159
2 GATA1 NM_002049.4(GATA1):c.219del (p.Val74fs) Deletion Pathogenic 998063 GRCh37: X:48649735-48649735
GRCh38: X:48791328-48791328
3 GATA1 NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs) Indel Pathogenic 998064 GRCh37: X:48649667-48649702
GRCh38: X:48791260-48791295
4 GATA1 NM_002049.4(GATA1):c.4dup (p.Glu2fs) Duplication Pathogenic 998065 GRCh37: X:48649518-48649519
GRCh38: X:48791111-48791112
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Expression for Myeloproliferative Syndrome, Transient

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

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

# Super pathways Score Top Affiliating Genes
1
Cytoskeletal Signaling 4
12.21 STK4 STK24 NF2 ITGA2B AMOT
2
Mesodermal Commitment Pathway 1
Show member pathways
 12.15 YAP1 WWC1 TEAD1 LATS1
3
Wnt / Hedgehog / Notch 4
12.06 YAP1 WWTR1 WWC1 TEAD1 STK4 SAV1
4
Hippo signaling pathway 36
12 YAP1 WWTR1 WWC1 TEAD1 SAV1 NF2
5
Signaling by Hippo 65
10.88 YAP1 WWTR1 WWC1 STK4 SAV1 LATS2
6
Hippo signaling pathway - multiple species 36
10.69 YAP1 WWTR1 WWC1 TEAD1 SAV1 NF2
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GO Terms for Myeloproliferative Syndrome, Transient

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 YAP1 WWTR1 WWC1 STK4 STK25 STK24
2 transcription factor complex GO:0005667 8.92 YAP1 WWTR1 TEAD1 GATA1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.98 YAP1 TEAD1 MSTN GATA1 DYRK1A
2 phosphorylation GO:0016310 9.93 STK4 STK25 STK24 LATS2 LATS1 DYRK1A
3 positive regulation of apoptotic process GO:0043065 9.88 STK4 SAV1 LATS2 LATS1
4 negative regulation of canonical Wnt signaling pathway GO:0090090 9.81 WWTR1 STK4 LATS2 LATS1
5 protein phosphorylation GO:0006468 9.8 STK4 STK25 STK24 LATS2 LATS1 DYRK1A
6 protein autophosphorylation GO:0046777 9.73 STK4 STK25 STK24 DYRK1A
7 peptidyl-serine phosphorylation GO:0018105 9.71 STK4 LATS2 LATS1 DYRK1A
8 tissue homeostasis GO:0001894 9.57 YAP1 WWTR1
9 negative regulation of protein localization to nucleus GO:1900181 9.56 LATS2 LATS1
10 negative regulation of organ growth GO:0046621 9.55 WWC1 STK4
11 regulation of stem cell proliferation GO:0072091 9.54 YAP1 NF2
12 platelet aggregation GO:0070527 9.54 MPL ITGA2B GATA1
13 lung epithelial cell differentiation GO:0060487 9.52 YAP1 SAV1
14 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.49 YAP1 WWTR1
15 heart process GO:0003015 9.48 YAP1 WWTR1
16 keratinocyte differentiation GO:0030216 9.46 YAP1 STK4 SAV1 LATS1
17 hippo signaling GO:0035329 9.28 YAP1 WWTR1 WWC1 TEAD1 STK4 SAV1
18 regulation of hippo signaling GO:0035330 9.26 WWC1 NF2
19 regulation of organ growth GO:0046620 9.13 SAV1 LATS2 LATS1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 YAP1 WWTR1 WWC1 TEAD1 STK4 STK25
2 kinase activity GO:0016301 9.63 STK4 STK25 STK24 LATS2 LATS1 DYRK1A
3 transcription coactivator activity GO:0003713 9.56 YAP1 WWTR1 WWC1 DYRK1A
4 protein kinase activity GO:0004672 9.43 STK4 STK25 STK24 LATS2 LATS1 DYRK1A
5 protein serine/threonine kinase activity GO:0004674 9.1 STK4 STK25 STK24 LATS2 LATS1 DYRK1A
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Sources for Myeloproliferative Syndrome, Transient

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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