MCID: MYL058
MIFTS: 37

Myeloproliferative Syndrome, Transient

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

Aliases & Classifications for Myeloproliferative Syndrome, Transient

MalaCards integrated aliases for Myeloproliferative Syndrome, Transient:

Name: Myeloproliferative Syndrome, Transient 57 73
Transient Myeloproliferative Syndrome 12 53 59 15
Transient Abnormal Myelopoiesis 57 12 53 59
Transient Myeloproliferative Disease 12 53 59
Mst 57 12
Tam 57 12
Tmd 53 59
Leukemia, Transient, of Down Syndrome 57
Transient Abnormal Myelopoiesis; Tam 57
Transient Leurkemia of Down Syndrome 12
Leukemia, Transient 57
Transient Leukemia 12

Characteristics:

Orphanet epidemiological data:

59
transient myeloproliferative syndrome
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
possible disomic homozygosity at 21q11.2


Classifications:



External Ids:

OMIM 57 159595
Disease Ontology 12 DOID:0060888
ICD10 33 D47.7
Orphanet 59 ORPHA420611
UMLS via Orphanet 74 C1834582
ICD10 via Orphanet 34 D47.7
MedGen 42 C1834582
SNOMED-CT via HPO 69 111583006 450934005
UMLS 73 C1834582

Summaries for Myeloproliferative Syndrome, Transient

Disease Ontology : 12 A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome and rarely in non-Down's infants.

MalaCards based summary : Myeloproliferative Syndrome, Transient, also known as transient myeloproliferative syndrome, is related to leukemia, acute myeloid and tibial muscular dystrophy, tardive. An important gene associated with Myeloproliferative Syndrome, Transient is GATA1 (GATA Binding Protein 1), and among its related pathways/superpathways is Hematopoietic cell lineage. The drugs Cytarabine and Daunorubicin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, and related phenotypes are leukocytosis and transient myeloproliferative syndrome

Description 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 all 42)
# Related Disease Score Top Affiliating Genes
1 leukemia, acute myeloid 28.1 CD33 CD7 GATA1 PTPN11
2 tibial muscular dystrophy, tardive 11.5
3 tibial muscular dystrophy 11.4
4 myopathy, tubular aggregate, 1 11.2
5 bruxism 10.3
6 neuronitis 10.1
7 neonatal leukemia 10.1 GATA1 PTPN11
8 breast cancer 10.1
9 leukemia 10.0
10 spotted fever 10.0
11 gastric cancer 9.9
12 leukemia, acute lymphoblastic 9.9
13 lymphoblastic leukemia 9.9
14 renal cell carcinoma, nonpapillary 9.9
15 myocardial infarction 9.9
16 substance abuse 9.9
17 clear cell renal cell carcinoma 9.9
18 systemic lupus erythematosus 9.9
19 pulmonary fibrosis, idiopathic 9.9
20 pulmonary fibrosis 9.9
21 lupus erythematosus 9.9
22 glioma 9.9
23 hypoxia 9.9
24 bone marrow cancer 9.8 GATA1 ITGB3 PTPN11
25 myeloid leukemia 9.7
26 colorectal cancer 9.7
27 lung cancer 9.7
28 juvenile myelomonocytic leukemia 9.7
29 acute lymphocytic leukemia 9.7
30 aleukemic leukemia cutis 9.6 CD33 CD7
31 leukemia, chronic lymphocytic 2 9.5
32 leukemia, chronic lymphocytic 9.5
33 down syndrome 9.5
34 acute leukemia 9.5
35 chronic myelomonocytic leukemia 9.5
36 miliaria 9.5
37 hairy cell leukemia 9.5
38 cerebritis 9.5
39 monocytic leukemia 9.5
40 herpes simplex 9.5
41 leukemia, b-cell, chronic 9.5
42 pdgfrb-associated chronic eosinophilic leukemia 9.5

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



Diseases related to Myeloproliferative Syndrome, Transient

Symptoms & Phenotypes for Myeloproliferative Syndrome, Transient

Symptoms via clinical synopsis from OMIM:

57
Heme:
transient myeloproliferative syndrome

Lab:
leukocytosis

Misc:
usually in newborns with down syndrome
rarely in normals


Clinical features from OMIM:

159595

Human phenotypes related to Myeloproliferative Syndrome, Transient:

32
# Description HPO Frequency HPO Source Accession
1 leukocytosis 32 HP:0001974
2 transient myeloproliferative syndrome 32 HP:0005534

MGI Mouse Phenotypes related to Myeloproliferative Syndrome, Transient:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.17 ADM DIO3 GATA1 GFER ITGB3 MSTN

Drugs & Therapeutics for Myeloproliferative Syndrome, Transient

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

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
2
Daunorubicin Approved Phase 3 20830-81-3 30323
3
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
4
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
5
Thioguanine Approved Phase 3 154-42-7 2723601
6
Busulfan Approved, Investigational Phase 3,Phase 2 55-98-1 2478
7
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
8
Fludarabine Approved Phase 3,Phase 2,Not Applicable 21679-14-1, 75607-67-9 30751
9
Miconazole Approved, Investigational, Vet_approved Phase 3,Not Applicable 22916-47-8 4189
10
Mycophenolate mofetil Approved, Investigational Phase 3,Not Applicable 128794-94-5 5281078
11
Mycophenolic acid Approved Phase 3,Not Applicable 24280-93-1 446541
12
Tacrolimus Approved, Investigational Phase 3,Phase 2 104987-11-3 445643 439492
13
Vidarabine Approved, Investigational Phase 3,Phase 2,Not Applicable 24356-66-9 32326 21704
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
15
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 143 6006
16
Butyric Acid Experimental, Investigational Phase 3 107-92-6 264
17 Anti-Bacterial Agents Phase 3,Not Applicable
18 Antibiotics, Antitubercular Phase 3,Not Applicable
19 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
20 Anti-Inflammatory Agents Phase 3
21 Antimetabolites Phase 3,Phase 2,Not Applicable
22 Antimetabolites, Antineoplastic Phase 3,Phase 2,Not Applicable
23 Antirheumatic Agents Phase 3,Phase 2,Not Applicable
24 Antiviral Agents Phase 3,Phase 2,Not Applicable
25
asparaginase Phase 3
26 Cortisol succinate Phase 3
27 Dermatologic Agents Phase 3,Phase 2,Not Applicable
28 Folic Acid Antagonists Phase 3,Phase 2
29 Hydrocortisone 17-butyrate 21-propionate Phase 3
30 Hydrocortisone acetate Phase 3
31 Hydrocortisone-17-butyrate Phase 3
32 Immunosuppressive Agents Phase 3,Phase 2,Not Applicable
33 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
34 Topoisomerase Inhibitors Phase 3
35 Vitamin B Complex Phase 3,Phase 2
36 Alkylating Agents Phase 3,Phase 2
37 Antifungal Agents Phase 3,Not Applicable
38 Antineoplastic Agents, Alkylating Phase 3,Phase 2
39 Antitubercular Agents Phase 3,Not Applicable
40 Calcineurin Inhibitors Phase 3,Phase 2,Not Applicable
41 Cyclosporins Phase 3,Not Applicable
42 Vidarabine Phosphate Phase 3,Not Applicable
43 Folate Nutraceutical Phase 3,Phase 2
44 Vitamin B9 Nutraceutical Phase 3,Phase 2
45
Acetaminophen Approved Phase 2 103-90-2 1983
46
Benzyl alcohol Approved Phase 2 100-51-6 244
47
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
48
Ethanol Approved Phase 2 64-17-5 702
49
Mannitol Approved, Investigational Phase 2 69-65-8 453 6251
50
Promethazine Approved, Investigational Phase 2 60-87-7 4927

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
2 Low-Dose or High-Dose Conditioning Followed by Peripheral Blood Stem Cell Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia Completed NCT00322101 Phase 3 cyclophosphamide;mycophenolate mofetil;busulfan;cyclosporine;fludarabine phosphate;tacrolimus;methotrexate
3 Low-Dose Cytarabine in Treating Infants With Down Syndrome and Transient Myeloproliferative Disorder Withdrawn NCT00411281 Phase 3 cytarabine
4 Early Administration of ATG Followed by Cyclophosphamide, Busulfan and Fludarabine Before a Donor Stem Cell Transplant in Patients With Hematological Cancer Completed NCT00787761 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methotrexate;tacrolimus
5 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1 Akt inhibitor MK2206
6 INCB18424 in Treating Young Patients With Relapsed or Refractory Solid Tumor, Leukemia, or Myeloproliferative Disease Completed NCT01164163 Phase 1 ruxolitinib phosphate
7 Studying Biomarker Expression in Samples From Patients With Down Syndrome and Acute Myeloid Leukemia or Other Transient Myeloproliferative Disorder Completed NCT01511575
8 Study of Blood Samples From Newborns With Down Syndrome Active, not recruiting NCT00959283
9 Fludarabine Phosphate and Total-Body Radiation Followed by Donor Peripheral Blood Stem Cell Transplant and Immunosuppression in Treating Patients With Hematologic Malignancies Active, not recruiting NCT00014235 Not Applicable 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:

41
Myeloid

Publications for Myeloproliferative Syndrome, Transient

Articles related to Myeloproliferative Syndrome, Transient:

# Title Authors Year
1
Transient myeloproliferative syndrome associated with Down syndrome. ( 23084883 )
2013
2
Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome. ( 2525515 )
1989

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 10.79 CD33 CD7 ITGB3

GO Terms for Myeloproliferative Syndrome, Transient

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

# Name GO ID Score Top Affiliating Genes
1 homeostasis of number of cells within a tissue GO:0048873 8.96 GATA1 PTPN11
2 platelet formation GO:0030220 8.62 GATA1 PTPN11

Sources for Myeloproliferative Syndrome, Transient

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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