Transient myeloproliferative syndrome

Summary

Transient myeloproliferative syndrome (MONDO:0008040) is a disease with 1 cohort gene and 43 clinical trials. Top therapeutic interventions include granisetron, lidocaine, and salicylic acid.

At a glance

• Cohort genes: 1
• ClinVar variants: 11
• Clinical trials: 43

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	transient myeloproliferative syndrome
Mondo ID	MONDO:0008040
MeSH	C563551
OMIM	159595
Orphanet	420611
DOID	DOID:0060888
NCIT	C82339
SNOMED CT	721307000
UMLS	C1834582
MedGen	331782
GARD	0012765
Is cancer (heuristic)	no

Also known as: leukemia, transient, of Down syndrome · MST · TAM · TMD · transient abnormal myelopoiesis · Transient abnormal myelopoiesis associated with Down syndrome · transient leukaemia · transient leurkemia of Down syndrome · transient myeloproliferative disease · transient myeloproliferative disorder · transient myeloproliferative syndrome · transient myeloproliferative syndrome (disease)

Data availability: 11 ClinVar variants · 1 HPO phenotype · 3 cell lines.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › hematopoietic and lymphoid cell neoplasm › myeloid neoplasm › myeloproliferative neoplasm › transient myeloproliferative syndrome

Related subtypes (12): myeloid leukemia, essential thrombocythemia, myelodysplastic/myeloproliferative neoplasm, therapy-related myeloid neoplasm, primary myelofibrosis, myeloproliferative disease, autosomal recessive, thrombocytopenia 6, chronic eosinophilic leukemia, chronic neutrophilic leukemia, myeloproliferative neoplasm, unclassifiable, erythroid neoplasm, myelofibrosis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

11 retrieved; paginated sample, class counts are floors:

5 uncertain significance, 4 pathogenic, 2 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
998062	NM_002049.4(GATA1):c.49_50del (p.Gln17fs)	GATA1	Pathogenic	criteria provided, single submitter
998063	NM_002049.4(GATA1):c.219del (p.Val74fs)	GATA1	Pathogenic	criteria provided, single submitter
998064	NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs)	GATA1	Pathogenic	criteria provided, single submitter
998065	NM_002049.4(GATA1):c.4dup (p.Glu2fs)	GATA1	Pathogenic	criteria provided, single submitter
1018362	NM_002049.4(GATA1):c.283G>A (p.Gly95Ser)	GATA1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2082310	NM_002049.4(GATA1):c.340G>A (p.Glu114Lys)	GATA1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2937136	NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)	GATA1	Uncertain significance	criteria provided, multiple submitters, no conflicts
3598344	NM_002049.4(GATA1):c.499G>C (p.Asp167His)	GATA1	Uncertain significance	criteria provided, single submitter
3598345	NM_002049.4(GATA1):c.748G>A (p.Val250Ile)	GATA1	Uncertain significance	criteria provided, multiple submitters, no conflicts
3598346	NM_002049.4(GATA1):c.1003A>C (p.Met335Leu)	GATA1	Uncertain significance	criteria provided, single submitter
3893065	NM_002049.4(GATA1):c.528C>A (p.Thr176=)	GATA1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 8 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
GATA1	Orphanet:124	Diamond-Blackfan anemia
GATA1	Orphanet:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome
GATA1	Orphanet:363727	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
GATA1	Orphanet:420611	Transient myeloproliferative syndrome
GATA1	Orphanet:67044	Thrombocytopenia with congenital dyserythropoietic anemia
GATA1	Orphanet:79277	Congenital erythropoietic porphyria
GATA1	Orphanet:86849	Acute basophilic leukemia
GATA1	Orphanet:99887	Acute megakaryoblastic leukemia in children with Down syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
GATA1	HGNC:4170	ENSG00000102145	P15976	Erythroid transcription factor	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GATA1	Erythroid transcription factor	Transcriptional activator or repressor which serves as a general switch factor for erythroid development.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
GATA1	Transcription factor	no		Znf_GATA, Znf_NHR/GATA, Transcription_factor_GATA

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
blood	1
bone marrow	1
trabecular bone tissue	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GATA1	138	tissue_specific	marker	trabecular bone tissue, blood, bone marrow

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GATA1	4,810

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
GATA1	P15976	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	1	120.2×	0.015	GATA1
RUNX1 regulates transcription of genes involved in differentiation of HSCs	1	95.2×	0.015	GATA1
Factors involved in megakaryocyte development and platelet production	1	66.4×	0.015	GATA1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of primitive erythrocyte differentiation	1	8426.0×	0.001	GATA1
basophil differentiation	1	8426.0×	0.001	GATA1
eosinophil fate commitment	1	8426.0×	0.001	GATA1
regulation of definitive erythrocyte differentiation	1	5617.3×	0.001	GATA1
regulation of glycoprotein biosynthetic process	1	4213.0×	0.001	GATA1
eosinophil differentiation	1	4213.0×	0.001	GATA1
primitive erythrocyte differentiation	1	4213.0×	0.001	GATA1
myeloid cell apoptotic process	1	2106.5×	0.002	GATA1
negative regulation of myeloid cell apoptotic process	1	1872.4×	0.002	GATA1
positive regulation of mast cell degranulation	1	1532.0×	0.002	GATA1
osteoblast proliferation	1	1404.3×	0.002	GATA1
cellular response to follicle-stimulating hormone stimulus	1	1404.3×	0.002	GATA1
megakaryocyte differentiation	1	1203.7×	0.002	GATA1
positive regulation of osteoblast proliferation	1	1203.7×	0.002	GATA1
Sertoli cell development	1	1123.5×	0.002	GATA1
dendritic cell differentiation	1	1053.2×	0.002	GATA1
negative regulation of bone mineralization	1	936.2×	0.002	GATA1
platelet formation	1	702.2×	0.003	GATA1
animal organ regeneration	1	601.9×	0.003	GATA1
erythrocyte development	1	526.6×	0.004	GATA1
positive regulation of erythrocyte differentiation	1	510.7×	0.004	GATA1
homeostasis of number of cells within a tissue	1	443.5×	0.004	GATA1
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	1	411.0×	0.004	GATA1
platelet aggregation	1	337.0×	0.005	GATA1
cell fate commitment	1	295.6×	0.005	GATA1
cellular response to cAMP	1	290.6×	0.005	GATA1
bone mineralization	1	271.8×	0.005	GATA1
erythrocyte differentiation	1	267.5×	0.005	GATA1
male gonad development	1	156.0×	0.009	GATA1
positive regulation of cytosolic calcium ion concentration	1	117.0×	0.011	GATA1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
GATA1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	GATA1

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
GATA1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 43.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	40
PHASE4	2
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07401745	PHASE4	ACTIVE_NOT_RECRUITING	Occlusal Splint Combined With Granisetron Injection for Management of Myofascial Pain Related to Temporomandibular Disorders
NCT03522207	PHASE4	TERMINATED	Accuracy and Efficacy of Trazodone (Desyrel) on Sleep Quality and Pain Management of TMD Patient
NCT01659372	PHASE1	UNKNOWN	Low Level Laser Therapy Versus Pharmacotherapy in in Improving Masticatory Muscle Pain
NCT05676827	Not specified	ENROLLING_BY_INVITATION	Pain, Central Sensitization and Psychoemotional State in Patients With Chronic Masticatory Muscle Pain
NCT06562556	Not specified	NOT_YET_RECRUITING	Impact of Breather Device on Ventilatory Effort in Patient With MTMD
NCT06677216	Not specified	ENROLLING_BY_INVITATION	Botulinum Toxin in the Management of Temporo-mandibular Related Myalgia: a Prospective Study
NCT06752200	Not specified	NOT_YET_RECRUITING	AMOUNT OF INTRAORAL OCCLUSAL ADJUSTMENTS IN OCCLUSAL SPLINTS FABRICATED USING FULLY DIGITAL VERSUS COMBINED DIGITAL WORKFLOW IN TMD PATIENTS
NCT06781320	Not specified	NOT_YET_RECRUITING	Digital Occlusal Analysis and Enamel Wear Assessment in Temporomandibular Disorder Patients Treated with Fully Digital Versus Conventional Stabilization Splints
NCT06948162	Not specified	RECRUITING	Exploration of the Utility of Dental-dedicated MRI for Dentistry
NCT06994156	Not specified	ACTIVE_NOT_RECRUITING	Diagnostic and Prognostic Salivary Biomarkers in Chronic Muscle Pain
NCT07115797	Not specified	NOT_YET_RECRUITING	ARS vs ARS With Arthrocentesis and PRP Injection in DDWR
NCT07226505	Not specified	NOT_YET_RECRUITING	Effects of Core Strengthening Exercises for Treating TMD
NCT07288411	Not specified	NOT_YET_RECRUITING	Effects of Vagus Nerve Stimulation on Temporomandibular Disorders.
NCT07297459	Not specified	ENROLLING_BY_INVITATION	Arthroscopic Anterior Release Versus Discectomy as Treatments for Temporomandibular Joint Disc Displacement With Reduction
NCT07304557	Not specified	RECRUITING	Effects Exercises in Temporomandibular Joint Disorders on Pain, Joint and Tongue Functions
NCT07351812	Not specified	RECRUITING	Two Treatment Modalities for Myogenous Temporomandibular Disorders
NCT07474662	Not specified	RECRUITING	Comparing the Effectiveness of Online vs. Face-to-face Physiotherapy for Treating Temporomandibular Disorders
NCT07584642	Not specified	NOT_YET_RECRUITING	Efficacy and Safety of HA35 Gel Nighttime Occlusive Application for TMD Pain
NCT07600203	Not specified	RECRUITING	A Double-blind, Placebo-controlled Evaluation of the Effect of the Erchonia® EVRL on Chronic Jaw Pain Arising From TMJ
NCT07614932	Not specified	NOT_YET_RECRUITING	Arthroscopic Lysis and Lavage With and Without Intra-articular Injection of Hyaluronic Acid in Patients With DDwoR in TMJ
NCT02427113	Not specified	UNKNOWN	What Are the Effects of Music on Temporomandibular Disorder Symptoms?
NCT02946645	Not specified	COMPLETED	Efficiency of Neuromuscular Bite vs Physiotherapy in TMD Patients
NCT03398486	Not specified	COMPLETED	The Effectiveness of Kinesiotaping and Inactivation of Trigger Points in Chronic Myofascial Pain of TMD
NCT04241562	Not specified	COMPLETED	Validation of a Novel Cortical Biomarker Signature for Pain
NCT04298554	Not specified	COMPLETED	Comparison of Cannabinoids to Placebo in Management of TMJ Pain and Myofascial Pain in the TMJ Region
NCT04326608	Not specified	UNKNOWN	Psycho-social Aspects After a Physiotherapy Intervention in Chronic TMD Pain
NCT04409067	Not specified	COMPLETED	Masticatory Muscle Activity in Patients With Pain-related Temporomandibular Disorders
NCT04543981	Not specified	UNKNOWN	Prevalence of the Signs and Symptoms of TMD in Adolescents
NCT04618445	Not specified	UNKNOWN	Prevalence of Temporomandibular Joint Disorders Among Egyptian University Undergraduate Students
NCT05003349	Not specified	COMPLETED	Pain Neuroscience Education, Motor Imagery and Action Observation in Patients With Chronic Temporomandibular Disorders.
NCT05288647	Not specified	COMPLETED	Computer Guided Versus Conventional TMJ Injection
NCT05302466	Not specified	COMPLETED	Additive Effects of Dental Bite Pads During Gymnastic Exercises for the Relief of Chronic Non-specific Neck Pain in Working Women and Men at a VDU Workplace
NCT05522114	Not specified	COMPLETED	Accuracy of Patient Specific Guide for TMJ Injection
NCT05620758	Not specified	UNKNOWN	Laser Therapy and Temporomandibular Disorders
NCT05660343	Not specified	COMPLETED	Ozonated Olive Oil and Low-Level Laser Therapy in TMD Treatment
NCT05717634	Not specified	UNKNOWN	Endometrial Changes in Breast Cancer Women.
NCT05862870	Not specified	COMPLETED	TMD Online Program for Pain Management
NCT05955222	Not specified	COMPLETED	Clinical Performance of CAD/CAM Splint Materials
NCT06087432	Not specified	COMPLETED	Is PNF Application Effective on Temporomandibular Dysfunction
NCT06339736	Not specified	COMPLETED	Treatment Outcomes in Patients With Muscular Temporo-mandibular Joint Disorders

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
GRANISETRON	4	1
LIDOCAINE	4	1
SALICYLIC ACID	4	1
TRAZODONE	4	1
CHEMBL399538	0	1