Blood platelet disease

Summary

Blood platelet disease (MONDO:0002245) is a disease (an umbrella term covering 5 Mondo subtypes) and 14 clinical trials. Top therapeutic interventions include avatrombopag, eltrombopag, and rifaximin. A subtype of hematologic disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 5 Mondo subtypes
• Clinical trials: 14

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	blood platelet disease
Mondo ID	MONDO:0002245
MeSH	D001791
NCIT	C131634
SNOMED CT	22716005
UMLS	C0151854
MedGen	57492
Is cancer (heuristic)	no

Also known as: platelet abnormality · platelet disorder

Disease family

This is a subtype of hematologic disorder. 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 body system or component › hematologic disorder › blood platelet disease

Related subtypes (26): autoimmune disorder of blood, blood coagulation disease, hemorrhagic disease, anemia, splenic disorder, hematopoietic and lymphoid system neoplasm, blood group incompatibility, bone marrow disorder, thymus gland disorder, leukocyte disorder, monoclonal gammopathy, septicemic plague, hyperamylasemia, alpha thalassemia-intellectual disability syndrome type 1, Bloom syndrome, congenital hematological disorder, alpha-thalassemia-myelodysplastic syndrome, deafness-lymphedema-leukemia syndrome, L-ferritin deficiency, dyskeratosis congenita, autosomal dominant 6, polyclonal hyperviscosity syndrome, parasitemia, erythrocyte disorder, premalignant hematological system disease, GATA1-Related X-Linked Cytopenia, paraneoplastic hematological syndrome

Subtypes (5): inherited bleeding disorder, platelet-type, qualitative platelet defect, thrombocytopenia, thrombocytosis disease, TPM4-related platelet disorder

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

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Avatrombopag, Eltrombopag, Sirolimus.

Clinical trials & evidence

Clinical trials

Clinical trials: 14.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	9
PHASE2	4
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06630572	PHASE4	TERMINATED	Rifaximin in Cirrhosis: Effects on Endotoxin and Haemostatic Indexes
NCT06261060	PHASE2	RECRUITING	Low-Dose Sirolimus to Increase Hematopoietic Function in Patients With RUNX1 Familial Platelet Disorder
NCT01880047	PHASE2	COMPLETED	Safety and Efficacy of Eltrombopag at Escalated Doses
NCT04312789	PHASE2	WITHDRAWN	Avatrombopag for the Treatment of Thrombocytopenia After Donor Hematopoietic Stem Cell Transplant
NCT05143892	PHASE2	UNKNOWN	Avatrombopag to Promote Platelet Engraftment After Allo-HSCT
NCT04398628	Not specified	RECRUITING	ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders
NCT05985668	Not specified	RECRUITING	Towards Improved Diagnostics for Suspected Platelet Function Disorders
NCT06691581	Not specified	ACTIVE_NOT_RECRUITING	Italian Study for Congenital Platelet Disorders
NCT01839968	Not specified	COMPLETED	Ex-Vivo Reversion of Platelet Inhibition Induced by Prasugrel
NCT02979158	Not specified	COMPLETED	Preoperative Dual Antiplatelet Therapy: Platelet Function and Influence of Cardiopulmonary Bypass
NCT04419987	Not specified	UNKNOWN	Study of Constitutional Platelet Disease
NCT04842760	Not specified	UNKNOWN	PLATELET Function Assay With Flow Imaging on ImageSTREAM Cytometer
NCT05098106	Not specified	UNKNOWN	PLAIAR-Trial: Platelets in Inflammation and Resolution
NCT06948630	Not specified	COMPLETED	Hemogram Parameter Changes With Sepsis Filter

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
AVATROMBOPAG	4	2
ELTROMBOPAG	4	1
RIFAXIMIN	4	1