MST
MCID: MYL058
MIFTS: 44

Myeloproliferative Syndrome, Transient (MST)

Categories: Blood diseases, Cancer diseases, Immune diseases, Liver diseases, Rare diseases

Aliases & Classifications for Myeloproliferative Syndrome, Transient

MalaCards integrated aliases for Myeloproliferative Syndrome, Transient:

Name: Myeloproliferative Syndrome, Transient 56 71
Transient Myeloproliferative Syndrome 12 52 58 15
Transient Abnormal Myelopoiesis 56 12 52 58
Transient Myeloproliferative Disease 12 52 58
Leukemia, Transient, of Down Syndrome 56 13
Mst 56 12
Tam 56 12
Tmd 52 58
Transient Abnormal Myelopoiesis; Tam 56
Transient Leukemia of Down Syndrome 12
Leukemia, Transient 56
Transient Leukemia 12

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
possible disomic homozygosity at 21q11.2


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060888
OMIM 56 159595
ICD10 32 D47.7
ICD10 via Orphanet 33 D47.7
UMLS via Orphanet 72 C1834582
Orphanet 58 ORPHA420611
MedGen 41 C1834582
SNOMED-CT via HPO 68 111583006 450934005
UMLS 71 C1834582

Summaries for Myeloproliferative Syndrome, Transient

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 tibial muscular dystrophy 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 Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include myeloid, and related phenotypes are leukocytosis and transient myeloproliferative syndrome

Wikipedia : 74 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 308)
# Related Disease Score Top Affiliating Genes
1 tibial muscular dystrophy 12.2
2 myopathy, tubular aggregate, 1 12.1
3 tibial muscular dystrophy, tardive 11.5
4 bruxism 10.7
5 headache 10.6
6 malignant epithelioid hemangioendothelioma 10.5 YAP1 WWTR1
7 epithelioid hemangioendothelioma 10.5 YAP1 WWTR1
8 brain meningioma 10.5 YAP1 NF2
9 rare tumor 10.5 NF2 LATS2
10 peritoneal mesothelioma 10.5 NF2 LATS2 LATS1
11 histiocytoid hemangioma 10.4 YAP1 WWTR1
12 sveinsson chorioretinal atrophy 10.4 YAP1 WWTR1 TEAD1
13 osteoarthritis 10.4
14 whiplash 10.4
15 spinal cord ependymoma 10.4 YAP1 NF2
16 cerebral cavernous malformations 3 10.4 STK25 STK24
17 x-linked recessive disease 10.4 SAV1 MSTN LATS1
18 greig cephalopolysyndactyly syndrome 10.4
19 myxopapillary ependymoma 10.4 YAP1 NF2
20 syndromic x-linked intellectual disability 10.4 YAP1 WWC1 SAV1 LATS2 LATS1
21 hemopericardium 10.3
22 pericardial effusion 10.3
23 meningioma, familial 10.3 TEAD1 NF2 LATS2 AMOT
24 malignant ependymoma 10.3 YAP1 NF2
25 fibromyalgia 10.3
26 temporomandibular joint anomaly 10.3
27 leukemia, acute lymphoblastic 10.3
28 depression 10.3
29 syndromic intellectual disability 10.3 YAP1 WWC1 SAV1 LATS2 LATS1 DYRK1A
30 pik3ca-related overgrowth syndrome 10.3
31 cerebrum cancer 10.2 YAP1 NF2
32 liver disease 10.2
33 pulmonary hypertension 10.2
34 respiratory failure 10.2
35 adenocarcinoma 10.2
36 glioma 10.2
37 glial tumor 10.2
38 sleep apnea 10.2
39 osteogenic sarcoma 10.2
40 mental depression 10.2
41 substance abuse 10.2
42 gastric cancer 10.2
43 breast cancer 10.2
44 glioblastoma multiforme 10.2
45 migraine with or without aura 1 10.1
46 exostosis 10.1
47 sleep disorder 10.1
48 hypothyroidism 10.1
49 familial cold autoinflammatory syndrome 3 10.1
50 major depressive disorder 10.1

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:

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:

56
Lab:
leukocytosis

Misc:
usually in newborns with down syndrome
rarely in normals

Heme:
transient myeloproliferative syndrome

Clinical features from OMIM:

159595

MGI Mouse Phenotypes related to Myeloproliferative Syndrome, Transient:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 AMOT DYRK1A GATA1 ITGA2B LATS1 LATS2
2 cellular MP:0005384 10.25 AMOT DYRK1A GATA1 ITGA2B LATS1 LATS2
3 growth/size/body region MP:0005378 10.13 AMOT DYRK1A GATA1 LATS1 LATS2 MSTN
4 embryo MP:0005380 10.1 AMOT DYRK1A GATA1 ITGA2B LATS2 NF2
5 endocrine/exocrine gland MP:0005379 10.02 DYRK1A LATS1 LATS2 NF2 SAV1 STK4
6 immune system MP:0005387 9.96 DYRK1A GATA1 ITGA2B LATS1 MSTN NF2
7 mortality/aging MP:0010768 9.86 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 ITGA2B LATS1 LATS2 NF2

Drugs & Therapeutics for Myeloproliferative Syndrome, Transient

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Transient Myeloproliferative Disorder (TMD) in Children With Down Syndrome (DS) Withdrawn NCT00411281 Phase 3 cytarabine
2 A Phase I Study of JAK Inhibition (INCB018424) in Children With Relapsed or Refractory Solid Tumors, Leukemias, and Myeloproliferative Neoplasms Completed NCT01164163 Phase 1 ruxolitinib phosphate
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

MalaCards organs/tissues related to Myeloproliferative Syndrome, Transient:

40
Myeloid

Publications for Myeloproliferative Syndrome, Transient

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 56
1680787 1991
2
Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome. 56 61
2525515 1989
3
Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis. 56
8644714 1996
4
Cytogenetic and molecular studies of Down syndrome individuals with leukemia. 56
7717402 1995
5
Leukaemia and transient leukaemia in Down syndrome. 56
2146208 1990
6
Transient neonatal leukemoid reactions in mosaic trisomy 21. 56
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

Variations for Myeloproliferative Syndrome, Transient

Expression for Myeloproliferative Syndrome, Transient

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

Pathways for Myeloproliferative Syndrome, Transient

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

# Super pathways Score Top Affiliating Genes
1 12.21 STK4 STK24 NF2 ITGA2B AMOT
2
Show member pathways
12.15 YAP1 WWC1 TEAD1 LATS1
3 12.06 YAP1 WWTR1 WWC1 TEAD1 STK4 SAV1
4 12 YAP1 WWTR1 WWC1 TEAD1 SAV1 NF2
5 10.88 YAP1 WWTR1 WWC1 STK4 SAV1 LATS2
6 10.69 YAP1 WWTR1 WWC1 TEAD1 SAV1 NF2

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 transcription factor complex GO:0005667 9.26 YAP1 WWTR1 TEAD1 GATA1
2 TEAD-1-YAP complex GO:0071148 8.62 YAP1 TEAD1

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

(show all 21)
# 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 9.97 STK4 STK25 STK24 LATS2 LATS1 DYRK1A
3 positive regulation of apoptotic process GO:0043065 9.9 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 9.76 STK4 STK25 STK24 DYRK1A
7 regulation of mitotic cell cycle GO:0007346 9.75 STK4 STK25 STK24
8 activation of protein kinase activity GO:0032147 9.74 STK4 STK25 STK24
9 peptidyl-serine phosphorylation GO:0018105 9.67 STK4 LATS2 LATS1 DYRK1A
10 stress-activated protein kinase signaling cascade GO:0031098 9.61 STK4 STK25 STK24
11 tissue homeostasis GO:0001894 9.59 YAP1 WWTR1
12 signal transduction by protein phosphorylation GO:0023014 9.58 STK4 STK25 STK24
13 negative regulation of organ growth GO:0046621 9.56 WWC1 STK4
14 regulation of stem cell proliferation GO:0072091 9.55 YAP1 NF2
15 lung epithelial cell differentiation GO:0060487 9.54 YAP1 SAV1
16 heart process GO:0003015 9.52 YAP1 WWTR1
17 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.48 YAP1 WWTR1
18 keratinocyte differentiation GO:0030216 9.46 YAP1 STK4 SAV1 LATS1
19 hippo signaling GO:0035329 9.28 YAP1 WWTR1 WWC1 TEAD1 STK4 SAV1
20 regulation of hippo signaling GO:0035330 9.26 WWC1 NF2
21 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 SULT4A1 STK4
2 transferase activity GO:0016740 9.86 TST SULT4A1 STK4 STK25 STK24 LATS2
3 kinase activity GO:0016301 9.63 STK4 STK25 STK24 LATS2 LATS1 DYRK1A
4 transcription coactivator activity GO:0003713 9.62 YAP1 WWTR1 WWC1 DYRK1A
5 protein kinase activity GO:0004672 9.43 STK4 STK25 STK24 LATS2 LATS1 DYRK1A
6 protein serine/threonine kinase activity GO:0004674 9.1 STK4 STK25 STK24 LATS2 LATS1 DYRK1A

Sources for Myeloproliferative Syndrome, Transient

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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