Myelodysplastic syndrome with single lineage dysplasia

Summary

Myelodysplastic syndrome with single lineage dysplasia (MONDO:0005272) is a disease and 32 clinical trials. Top therapeutic interventions include cyclophosphamide anhydrous, tofacitinib, and abatacept. A subtype of myelodysplastic syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 14
• Clinical trials: 32

Clinical features

Signs & symptoms

Clinical features (HPO)

14 HPO clinical features (Orphanet curated; top 14 by frequency):

HPO ID	Term	Frequency
HP:0002863	Myelodysplasia	Very frequent (80-99%)
HP:0010972	Anemia of inadequate production	Very frequent (80-99%)
HP:0001972	Macrocytic anemia	Frequent (30-79%)
HP:0012133	Erythroid hypoplasia	Frequent (30-79%)
HP:0012150	Single lineage myelodysplasia	Frequent (30-79%)
HP:0012378	Fatigue	Frequent (30-79%)
HP:0001895	Normochromic anemia	Occasional (5-29%)
HP:0001897	Normocytic anemia	Occasional (5-29%)
HP:0002094	Dyspnea	Occasional (5-29%)
HP:0005528	Bone marrow hypocellularity	Occasional (5-29%)
HP:0030872	Abnormal cardiac ventricular function	Occasional (5-29%)
HP:0001873	Thrombocytopenia	Very rare (<1-4%)
HP:0001875	Decreased total neutrophil count	Very rare (<1-4%)
HP:0001892	Abnormal bleeding	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	myelodysplastic syndrome with single lineage dysplasia
Mondo ID	MONDO:0005272
EFO	EFO:0003802
MeSH	D000753
Orphanet	98826
ICD-11	149518956
NCIT	C2872, C82591
SNOMED CT	109996008, 1153345005
UMLS	C2826318
MedGen	415300
GARD	0019585
MedDRA	10038269
Is cancer (heuristic)	no

Also known as: aregenerative anaemia · MDS with single lineage dysplasia · MDS-SLD · RA · refractory anaemia · refractory anemia

Data availability: 3 cell lines.

Disease family

This is a subtype of myelodysplastic syndrome. 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 › myeloid hemopathy › myelodysplastic syndrome › myelodysplastic syndrome with single lineage dysplasia

Related subtypes (7): myelodysplastic syndrome associated with isolated del(5q), refractory anemia with excess blasts in transformation, myelodysplastic syndrome with ring sideroblasts, myelodysplastic syndrome with multilineage dysplasia, myelodysplastic syndrome with excess blasts, familial monosomy 7 syndrome, childhood myelodysplastic 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

Drugs indicated for this disease

0 approved, 12 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Aldesleukin	Phase 3 (in late-stage trials)
Asparaginase	Phase 3 (in late-stage trials)
Busulfan	Phase 3 (in late-stage trials)
Cytarabine	Phase 3 (in late-stage trials)
Dexamethasone	Phase 3 (in late-stage trials)
Etoposide	Phase 3 (in late-stage trials)
Filgrastim	Phase 3 (in late-stage trials)
Fludarabine Phosphate	Phase 3 (in late-stage trials)
Hydrocortisone	Phase 3 (in late-stage trials)
Idarubicin	Phase 3 (in late-stage trials)
Methotrexate	Phase 3 (in late-stage trials)
Thioguanine	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Daunorubicin, Fludarabine.

Clinical trials & evidence

Clinical trials

Clinical trials: 32.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	15
PHASE1	5
PHASE3	4
PHASE1/PHASE2	4
Not specified	3
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04311567	PHASE4	TERMINATED	Effects of Tofacitinib vs Methotrexate on Rheumatoid Arthritis Interstitial Lung Disease
NCT00002798	PHASE3	COMPLETED	Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome
NCT00275184	PHASE3	UNKNOWN	Bowel Preparation and Prokinetics in Capsule Endoscopy
NCT02057250	PHASE3	COMPLETED	To Evaluate Sarilumab - SAR153191 (REGN88) - Auto-injector Device In Patients With Rheumatoid Arthritis
NCT04224194	PHASE3	COMPLETED	Auto-injector Real Life Handling in Patients
NCT00392353	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Vorinostat and Azacitidine in Treating Patients With Myelodysplastic Syndromes or Acute Myeloid Leukemia
NCT03314974	PHASE2	RECRUITING	Myeloablative Allo HSCT With Related or Unrelated Donor for Heme Disorders
NCT07147959	PHASE2	RECRUITING	PET-Based Imaging of Radiolabeled CIT-013
NCT00015990	PHASE2	COMPLETED	Thalidomide in Treating Patients With Myelodysplastic Syndrome
NCT00027820	PHASE1/PHASE2	COMPLETED	Total-Body Irradiation and Fludarabine Phosphate Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies or Kidney Cancer
NCT00078858	PHASE1/PHASE2	COMPLETED	Mycophenolate Mofetil and Cyclosporine in Reducing Graft-Versus-Host Disease in Patients With Hematologic Malignancies or Metastatic Kidney Cancer Undergoing Donor Stem Cell Transplant
NCT00309842	PHASE2	COMPLETED	Myeloablative Umbilical Cord Blood Transplantation in Hematological Diseases
NCT00357565	PHASE2	COMPLETED	Hematopoietic Stem Cell Transplantation in the Treatment of Infant 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
NCT00719888	PHASE2	COMPLETED	Umbilical Cord Blood Transplant, Cyclophosphamide, Fludarabine, and Total-Body Irradiation in Treating Patients With Hematologic Disease
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
NCT01175785	PHASE2	COMPLETED	Infusion of Off-the-Shelf Expanded Cord Blood Cells to Augment Cord Blood Transplant in Patients With Hematologic Malignancies
NCT01273766	PHASE2	COMPLETED	Deferasirox in Treating Iron Overload Caused By Blood Transfusions in Patients With Hematologic Malignancies
NCT01384513	PHASE2	COMPLETED	A Two-Step Approach to Reduced Intensity Bone Marrow Transplant for Patients With Hematological Malignancies
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
NCT04083170	PHASE2	TERMINATED	Cord Blood Transplant With Dilanubicel for the Treatment of HIV Positive Hematologic Cancers
NCT00005845	PHASE1	COMPLETED	Tipifarnib in Treating Patients With Myelodysplastic Syndromes
NCT00012376	PHASE1	COMPLETED	Chemotherapy Plus Sargramostim in Treating Patients With Refractory Myeloid Cancer
NCT00104962	PHASE1	COMPLETED	Lenalidomide in Treating Young Patients With Relapsed or Refractory Solid Tumors or Myelodysplastic Syndromes
NCT00343798	PHASE1	COMPLETED	A Pilot Study to Evaluate the Co-Infusion of Ex Vivo Expanded Cord Blood Cells With an Unmanipulated Cord Blood Unit in Patients Undergoing Cord Blood Transplant for Hematologic Malignancies
NCT03358719	PHASE1	COMPLETED	DEC-205/NY-ESO-1 Fusion Protein CDX-1401, Poly ICLC, Decitabine, and Nivolumab in Treating Patients With Myelodysplastic Syndrome or Acute Myeloid Leukemia
NCT01146210	Not specified	COMPLETED	Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia
NCT02240732	Not specified	COMPLETED	Surgical Tourniquets and Cerebral Emboli
NCT02240888	Not specified	COMPLETED	Vaccination in Inflammatory Rheumatic Disease (VACCIMIL). The Impact of Antirheumatic Treatment on Antibody Response

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CYCLOPHOSPHAMIDE ANHYDROUS	4	3
TOFACITINIB	4	3
ABATACEPT	4	1
ALDESLEUKIN	4	1
ASPARAGINASE	4	1
AZACITIDINE	4	1
BUSULFAN	4	1
CYTARABINE	4	1
DAUNORUBICIN HYDROCHLORIDE	4	1
DECITABINE	4	1
DEFERASIROX	4	1
ETOPOSIDE	4	1
FILGRASTIM	4	1
FLUDARABINE PHOSPHATE	4	1
HYDROCORTISONE	4	1
HYDROXYCHLOROQUINE	4	1
IDARUBICIN	4	1
LEFLUNOMIDE	4	1
LENALIDOMIDE	4	1
MAGNESIUM CITRATE	4	1
METOCLOPRAMIDE	4	1
SARILUMAB	4	1
STREPTOCOCCUS PNEUMONIAE POLYSACCHARIDE CONJUGATED TO CORYNEBACTERIUM DIPHTHERIAE CRM197	4	1
SULFASALAZINE	4	1
THIOGUANINE	4	1
THIOTEPA	4	1
VORINOSTAT	4	1
ENTINOSTAT	3	1
SENNA	3	1
TIPIFARNIB	3	1