Myelodysplastic syndrome with multilineage dysplasia

Summary

Myelodysplastic syndrome with multilineage dysplasia (MONDO:0019453) is a disease and 13 clinical trials. Top therapeutic interventions include fludarabine phosphate, abatacept, and decitabine. A subtype of refractory hematologic cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Europe) [Orphanet-validated]
• Clinical trials: 13

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	<1 / 1 000 000		Europe	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	myelodysplastic syndrome with multilineage dysplasia
Mondo ID	MONDO:0019453
Orphanet	86836
ICD-10-CM	D46.A
NCIT	C8574
SNOMED CT	415285009
UMLS	C0796466
MedGen	208726
GARD	0019069
MedDRA	10067959
Is cancer (heuristic)	no

Also known as: MDS-MLD · RCMD · refractory cytopenia with multilineage dysplasia

Disease family

This is a subtype of refractory hematologic cancer. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

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 › refractory hematologic cancer › myelodysplastic syndrome with multilineage dysplasia

Related subtypes (5): refractory hairy cell leukemia, refractory precursor T-lymphoblastic lymphoma/leukemia, refractory plasma cell neoplasm, refractory anemia with excess blasts in transformation, refractory cytopenia of childhood

Subtypes (2): aregenerative anemia, congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 13.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	7
PHASE1	5
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00119366	PHASE2	TERMINATED	Iodine I 131 Monoclonal Antibody BC8, Fludarabine Phosphate, Total Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine and Mycophenolate Mofetil in Treating Patients With Advanced Acute Myeloid Leukemia or Myelodysplastic Syndrome
NCT00305773	PHASE2	COMPLETED	Vorinostat in Treating Patients With Acute Myeloid Leukemia
NCT00397813	PHASE2	COMPLETED	Fludarabine Phosphate and Total Body Irradiation Followed by a Donor Peripheral Stem Cell Transplant in Treating Patients With Myelodysplastic Syndromes or Myeloproliferative Disorders
NCT00462605	PHASE2	COMPLETED	MS-275 and GM-CSF in Treating Patients With Myelodysplastic Syndrome and/or Relapsed or Refractory Acute Myeloid Leukemia or Acute Lymphocytic Leukemia
NCT01012492	PHASE2	COMPLETED	Pilot of Abatacept-based Immunosuppression for Prevention of Acute GvHD During Unrelated Donor HCT
NCT01165996	PHASE1/PHASE2	COMPLETED	Differentiation Therapy With Decitabine in Treating Patients With Myelodysplastic Syndrome
NCT01789255	PHASE2	COMPLETED	Vorinostat, Tacrolimus, and Methotrexate in Preventing GVHD After Stem Cell Transplant in Patients With Hematological Malignancies
NCT02566304	PHASE2	COMPLETED	Reduced Intensity Chemotherapy and Radiation Therapy Before Donor Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT00005845	PHASE1	COMPLETED	Tipifarnib in Treating Patients With Myelodysplastic Syndromes
NCT00008177	PHASE1	COMPLETED	Radiolabeled Monoclonal Antibody Therapy, Fludarabine Phosphate, and Low-Dose Total-Body Irradiation Followed by Donor Stem Cell Transplant and Immunosuppression Therapy in Treating Older Patients With Advanced Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndromes
NCT00104962	PHASE1	COMPLETED	Lenalidomide in Treating Young Patients With Relapsed or Refractory Solid Tumors or Myelodysplastic Syndromes
NCT00589316	PHASE1	TERMINATED	Iodine I 131 Monoclonal Antibody BC8, Fludarabine Phosphate, Cyclophosphamide, Total-Body Irradiation and Donor Bone Marrow Transplant in Treating Patients With Advanced Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, or High-Risk Myelodysplastic Syndrome
NCT00988715	PHASE1	COMPLETED	Donor Peripheral Blood Stem Cell Transplant and Pretargeted Radioimmunotherapy in Treating Patients With High-Risk Advanced Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, or Myelodysplastic Syndrome

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
FLUDARABINE PHOSPHATE	4	6
ABATACEPT	4	1
DECITABINE	4	1
VORINOSTAT	4	1
ENTINOSTAT	3	1
TIPIFARNIB	3	1
ZEBULARINE	0	1