Myeloproliferative Syndrome, Transient disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

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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:

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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

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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

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Genetic Tests for Myeloproliferative Syndrome, Transient

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Anatomical Context for Myeloproliferative Syndrome, Transient

Organs/tissues related to Myeloproliferative Syndrome, Transient:

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

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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	Ohta T...Niikawa N	8644714	1996
2	Cytogenetic and molecular studies of Down syndrome individuals with leukemia. ⁶² ⁵⁷	Shen JJ...Hassold TJ	7717402	1995
3	Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2. ⁶² ⁵⁷	Niikawa N...Kaneko Y	1680787	1991
4	Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome. ⁶² ⁵⁷	Abe K...Niikawa N	2525515	1989
5	Leukaemia and transient leukaemia in Down syndrome. ⁵⁷	Iselius L...Morton N	2146208	1990
6	Transient neonatal leukemoid reactions in mosaic trisomy 21. ⁵⁷	Seibel NL...Miser J	6229618	1984
7	Mechanism of KIT gene regulation by GATA1 lacking the N-terminal domain in Down syndrome-related myeloid disorders. ⁶²	Kanezaki R...Ito E	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	Camargo R...Quezado Magalhaes IM	35731576	2022
9	Down syndrome-associated transient abnormal myelopoiesis with placental involvement. ⁶²	Daneshbod Y...Raghavan R	36467804	2022
10	Recalcitrant transient abnormal myelopoiesis in neonatal Down syndrome. ⁶²	Timmis S...Bartram J	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	Camargo R...Magalhaes IQ	35941211	2022
12	Fetal Distress and Neonatal Death After Thoracoamniotic Shunting Therapy Due to Hydrops Associated With Transient Abnormal Myelopoiesis. ⁶²	Muraoka J...Katsuragi S	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	Telman G...Januszkiewicz-Lewandowska D	35955128	2022
14	Microvesicular Steatosis with Transient Abnormal Myelopoiesis-Associated Hepatic Fibrosis. ⁶²	Kakiuchi T...Minematsu N	35366199	2022
15	The paradox of Myeloid Leukemia associated with Down syndrome. ⁶²	Gupte A...Taub JW	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	Manohar S...Jayakumar N	35900507	2022
17	Clonal Myeloproliferative Disorders in Patients with Down Syndrome-Treatment and Outcome Results from an Institution in Argentina. ⁶²	Pennella CL...Felice MS	35805057	2022
18	Accelerated epigenetic aging in newborns with Down syndrome. ⁶²	Xu K...de Smith AJ	35661546	2022
19	Myeloid cell thrombus and fetal vascular malperfusion in placentas with transient abnormal myelopoiesis. ⁶²	Tomimori K...Sato Y	35199205	2022
20	Rapid next-generation sequencing aids in diagnosis of transient abnormal myelopoiesis in a phenotypically normal newborn. ⁶²	Aziz-Bose R...Pikman Y	35090166	2022
21	Phenotypic switching to hypereosinophilia during cytoreductive therapy for transient abnormal myelopoiesis associated with Down syndrome. ⁶²	Kobayashi K...Heike T	35846025	2022
22	Transient abnormal myelopoiesis in Down syndrome: Experience of long term follow up from a single tertiary center in Thailand. ⁶²	Chotsampancharoen T...McNeil EB	35608385	2022
23	Life threatening congenital hydropericardium in a newborn with Down syndrome, transient abnormal myelopoiesis, Hirschsprung disease and a ventricular septal defect. ⁶²	Buczynski M...Kuzma J	35393632	2022
24	Sensitive detection of GATA1 mutations using complementary DNA-based analysis for transient abnormal myelopoiesis associated with the Down syndrome. ⁶²	Mizuta S...Kobayashi K	34761527	2022
25	[Myeloproliferative disorders and leukemia related to Down syndrome. Report of two clinical cases in neonatal period]. ⁶²	Castro MX...Jaramillo ML	35338823	2022
26	Immunophenotypic Analysis of Acute Megakaryoblastic Leukemia: A EuroFlow Study. ⁶²	Brouwer N...On Behalf Of The EuroFlow Consortium	35326734	2022
27	Using the in vitro drug sensitivity test to identify candidate treatments for transient abnormal myelopoiesis. ⁶²	Yokosuka T...Goto H	34816427	2022
28	Hematological disorders in children with Down syndrome. ⁶²	Triarico S...Ruggiero A	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	Barwe SP...Gopalakrishnapillai A	35203280	2022
30	Trisomy 21, transposition of the great arteries and abnormal myelopoiesis. ⁶²	Mishra C...Sehgal T	35034684	2022
31	Advances in molecular characterization of myeloid proliferations associated with Down syndrome. ⁶²	Li J...Kalev-Zylinska ML	36035173	2022
32	Clinical and biological aspects of myeloid leukemia in Down syndrome. ⁶²	Boucher AC...Flerlage JE	34518645	2021
33	Recommendations for Diagnosis and Treatment of Children with Transient Abnormal Myelopoiesis (TAM) and Myeloid Leukemia in Down Syndrome (ML-DS). ⁶²	Al-Kershi S...Klusmann JH	34407551	2021
34	Retrospective diagnosis of transient abnormal myelopoiesis by using preserved dried umbilical cord. ⁶²	Okamoto T...Azuma H	34219329	2021
35	Marked thrombocytosis resulting in pseudohyperkalemia in a neonate with transient abnormal myelopoiesis. ⁶²	Lee JW...Kim M	33682342	2021
36	Aberrant myelomonocytic CD56 expression in Down syndrome is frequent and not associated with leukemogenesis. ⁶²	Gadgeel M...Savasan S	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	Miyauchi J...Kawaguchi H	33838549	2021
38	Down syndrome with neonatal alloimmune thrombocytopenia due to anti-HLA A31 and B61 antibodies. ⁶²	Shima E...Hosoya M	33569741	2021
39	A Novel Chromosomal Aberration in the Pathogenesis of Transient Leukemia of Down Syndrome. ⁶²	Chidambaram AC...Mondal N	33723680	2021
40	Predictive factors for the development of leukemia in patients with transient abnormal myelopoiesis and Down syndrome. ⁶²	Yamato G...Muramatsu H	33654203	2021
41	Clinical features of 35 Down syndrome patients with transient abnormal myelopoiesis at a single institution. ⁶²	Yamato G...Hayashi Y	33394336	2021
42	Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies. ⁶²	Lalonde E...Li MM	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	Sah RR...Kumar P	31876781	2021
44	Neonatal Leukemia. ⁶²	Brown PA	33583502	2021
45	Two patients of trisomy 21 with transient abnormal myelopoiesis with hypereosinophilia without blasts in peripheral blood smears. ⁶²	Okamoto T...Azuma H	33150826	2021
46	Transient abnormal myelopoiesis in pediatrics with trisomy 21. ⁶²	Taee N...Bajelan A	33598211	2021
47	Down syndrome-related transient abnormal myelopoiesis is attributed to a specific erythro-megakaryocytic subpopulation with GATA1 mutation. ⁶²	Nishinaka-Arai Y...Saito MK	32354872	2021
48	Molecular Mechanisms of the Genetic Predisposition to Acute Megakaryoblastic Leukemia in Infants With Down Syndrome. ⁶²	Grimm J...Klusmann JH	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	Matsuo S...Saito MK	33780474	2021
50	SERS-Based Evaluation of the DNA Methylation Pattern Associated With Progression in Clonal Leukemogenesis of Down Syndrome. ⁶²	Moisoiu V...Tomuleasa C	34368097	2021

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Genes for Myeloproliferative Syndrome, Transient

Genes related to Myeloproliferative Syndrome, Transient (2 elite genes):

(show all 29)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GATA1	GATA Binding Protein 1	Protein Coding	759.02	Pathogenic ⁵ Causative somatic mutation ⁵⁸ DISEASES inferred ¹⁴	14636651
2	TAM	Myeloproliferative Syndrome, Transient (Transient Abnormal	Genetic Locus	58.78	Genetic linkage ⁵⁷ GeneCards inferred via : Gene name (show sections)
3	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	7.59	DISEASES inferred ¹⁴ ¹⁴
4	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	6.2	DISEASES inferred ¹⁴
5	DYRK1A	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A	Protein Coding	6.11	DISEASES inferred ¹⁴
6	GATA2	GATA Binding Protein 2	Protein Coding	5.99	DISEASES inferred ¹⁴
7	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	5.93	DISEASES inferred ¹⁴
8	MPL	MPL Proto-Oncogene, Thrombopoietin Receptor	Protein Coding	5.81	DISEASES inferred ¹⁴
9	CBFA2T3	CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3	Protein Coding	5.81	DISEASES inferred ¹⁴
10	ETS2	ETS Proto-Oncogene 2, Transcription Factor	Protein Coding	5.78	DISEASES inferred ¹⁴
11	THPO	Thrombopoietin	Protein Coding	5.78	DISEASES inferred ¹⁴
12	CD7	CD7 Molecule	Protein Coding	5.78	DISEASES inferred ¹⁴
13	MRTFA	Myocardin Related Transcription Factor A	Protein Coding	5.74	DISEASES inferred ¹⁴
14	CD33	CD33 Molecule	Protein Coding	5.73	DISEASES inferred ¹⁴
15	ITGB3	Integrin Subunit Beta 3	Protein Coding	5.73	DISEASES inferred ¹⁴
16	HMGN1	High Mobility Group Nucleosome Binding Domain 1	Protein Coding	5.69	DISEASES inferred ¹⁴
17	CD34	CD34 Molecule	Protein Coding	5.65	DISEASES inferred ¹⁴
18	RBM15	RNA Binding Motif Protein 15	Protein Coding	5.61	DISEASES inferred ¹⁴
19	GYPA	Glycophorin A (MNS Blood Group)	Protein Coding	5.59	DISEASES inferred ¹⁴
20	FLT3	Fms Related Receptor Tyrosine Kinase 3	Protein Coding	5.39	DISEASES inferred ¹⁴
21	ZFPM1	Zinc Finger Protein, FOG Family Member 1	Protein Coding	5.34	DISEASES inferred ¹⁴
22	SMC3	Structural Maintenance Of Chromosomes 3	Protein Coding	5.3	DISEASES inferred ¹⁴
23	KMT2A	Lysine Methyltransferase 2A	Protein Coding	5.3	DISEASES inferred ¹⁴
24	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	5.28	DISEASES inferred ¹⁴
25	KANSL1	KAT8 Regulatory NSL Complex Subunit 1	Protein Coding	5.28	DISEASES inferred ¹⁴
26	GLIS2	GLIS Family Zinc Finger 2	Protein Coding	5.28	DISEASES inferred ¹⁴
27	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	5.23	DISEASES inferred ¹⁴
28	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	5.21	DISEASES inferred ¹⁴
29	ANPEP	Alanyl Aminopeptidase, Membrane	Protein Coding	5.2	DISEASES inferred ¹⁴

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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

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Expression for Myeloproliferative Syndrome, Transient

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

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Pathways for Myeloproliferative Syndrome, Transient

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

#	Super pathways	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.82	THPO MPL ITGB3 ITGA2B GYPA GP1BA
2	NF-kappaB Signaling ³	12.17	MRTFA MPL GATA2 GATA1 CD34
3	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.73	THPO GATA2 GATA1
4	C-MYB transcription factor network ⁶¹	11.4	GATA1 ETS2 CD34
5	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.34	THPO MPL ITGB3 ITGA2B GP1BA
6	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	11.34	THPO MPL ITGB3 ITGA2B GYPA GP1BA
7	Signal transduction by L1 ⁶⁶	10.73	ITGB3 ITGA2B
8	Ephrin B reverse signaling ⁶¹	10.62	ITGB3 ITGA2B

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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

Sources for Myeloproliferative Syndrome, Transient

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MST MCID: MYL058 MIFTS: 51	Myeloproliferative Syndrome, Transient (MST) Categories: Blood diseases, Cancer diseases, Immune diseases, Liver diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Myeloproliferative Syndrome, Transient (MST)

Aliases & Classifications for Myeloproliferative Syndrome, Transient

MalaCards integrated aliases for Myeloproliferative Syndrome, Transient:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Myeloproliferative Syndrome, Transient

Related Diseases for Myeloproliferative Syndrome, Transient

Diseases in the 8p11 Myeloproliferative Syndrome family:

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

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

Symptoms & Phenotypes for Myeloproliferative Syndrome, Transient

Human phenotypes related to Myeloproliferative Syndrome, Transient:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

MGI Mouse Phenotypes related to Myeloproliferative Syndrome, Transient:

Drugs & Therapeutics for Myeloproliferative Syndrome, Transient

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

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Genes related to Myeloproliferative Syndrome, Transient (2 elite genes):

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ClinVar genetic disease variations for Myeloproliferative Syndrome, Transient:

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

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

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

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

Sources for Myeloproliferative Syndrome, Transient