Acquired thrombocytopenia

Summary

Acquired thrombocytopenia (MONDO:0001198) is a disease with 10 GWAS associations across 6 studies and 1 clinical trial. A subtype of thrombocytopenia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 10
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	acquired thrombocytopenia
Mondo ID	MONDO:0001198
DOID	DOID:11126
ICD-11	526155201
SNOMED CT	74576004
UMLS	C0154301
MedGen	509570
Is cancer (heuristic)	no

Also known as: acquired thrombocytopenia · secondary thrombocytopenia

Data availability: 10 GWAS associations (6 studies).

Disease family

This is a subtype of thrombocytopenia. 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 › thrombocytopenia › acquired thrombocytopenia

Related subtypes (5): thrombocytopenia due to immune destruction, autoimmune thrombocytopenia, neonatal thrombocytopenia, thrombocytopenic purpura, inherited thrombocytopenia

Subtypes (1): acquired thrombotic thrombocytopenic purpura

Genetics & variants

GWAS landscape

10 GWAS associations across 6 studies. Top hits map to 7 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs3747207	9e-16	PNPLA3	G	0.25
rs77375493	1e-14	JAK2	G	1.95
rs185313909	1e-13	RPS6KA2	C	2.76
rs190523158	3e-13	PALLD	G	1.82
rs566614659	4e-12	LINC01912	G	2.15
rs185525572	9e-12	LRRTM4	A	2.06
rs182690324	3e-11	RNU4-58P - DUXAP11	T	2.14
rs372775592	4e-11	FARP1	G	2.39
rs192513318	2e-09	DCAF12L2 - MTCO1P53	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475810	Verma A	2024	2,365	445,095	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479982	Verma A	2024	457	120,681	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481666	Verma A	2024	457	120,681	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481665	Verma A	2024	309	59,129	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651326	Liu TY	2025	175	231,777	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90435824	Zhou W	2018	73	406,281	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	8

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	7
unknown	1

Functional consequences

Consequence	Count
intron_variant	7
missense_variant	1
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs3747207	22	43928975	G>A,C,T	0.219	intron_variant	PNPLA3	9e-16	Tier 4: intronic/intergenic
rs77375493	9	5073770	G>A,C,T	0	missense_variant	JAK2	1e-14	Tier 1: coding
rs185313909	6	166767638	C>G,T	0	intron_variant	RPS6KA2	1e-13	Tier 4: intronic/intergenic
rs190523158	4	168540224	G>A,C,T	0.001	intron_variant	PALLD	3e-13	Tier 4: intronic/intergenic
rs566614659	18	68258948	G>A	0.001	intron_variant	LINC01912	4e-12	Tier 4: intronic/intergenic
rs185525572	2	77410940	A>G	0.001	intron_variant	LRRTM4	9e-12	Tier 4: intronic/intergenic
rs182690324	16	59569942	T>A,G	0	intergenic_variant	RNU4-58P - DUXAP11	3e-11	Tier 4: intronic/intergenic
rs372775592	13	98254592	G>T	0.001	intron_variant	FARP1	4e-11	Tier 4: intronic/intergenic
rs192513318	X	126235298	C>A		intron_variant	DCAF12L2 - MTCO1P53	2e-09	Tier 4: intronic/intergenic

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation