Primary thrombocytopenia
diseaseOn this page
Summary
Primary thrombocytopenia (MONDO:0004680) is a disease with 3 GWAS associations across 6 studies and 1 clinical trial. Top therapeutic interventions include human immunoglobulin g. A subtype of autoimmune disorder of blood — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 3
- Clinical trials: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | primary thrombocytopenia |
| Mondo ID | MONDO:0004680 |
| DOID | DOID:8925 |
| SNOMED CT | 267534000 |
| UMLS | C0701157 |
| MedGen | 675208 |
| GARD | 0024085 |
| Is cancer (heuristic) | no |
Data availability: 3 GWAS associations (6 studies).
Disease family
This is a subtype of autoimmune disorder of blood. 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 › autoimmune disorder of blood › primary thrombocytopenia
Related subtypes (1): autoimmune hemolytic anemia
Subtypes (2): autoimmune thrombocytopenic purpura, Evans syndrome
Genetics & variants
GWAS landscape
3 GWAS associations across 6 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs77375493 | 9e-18 | JAK2 | G | 2.14 |
| rs535794280 | 3e-11 | RBMX2P4 - ETV1 | G | 2.77 |
| rs185803710 | 9e-08 | ARFGEF3 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477467 | Verma A | 2024 | 1,434 | 448,643 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435823 | Zhou W | 2018 | 420 | 406,281 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90651822 | Liu TY | 2025 | 378 | 231,777 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90479981 | Verma A | 2024 | 352 | 121,302 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481664 | Verma A | 2024 | 352 | 121,302 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90043683 | Jiang L | 2021 | 260 | 456,088 | A generalized linear mixed model association tool for biobank-scale data. |
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 | 2 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 2 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 2 |
| missense_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs77375493 | 9 | 5073770 | G>A,C,T | 0 | missense_variant | JAK2 | 9e-18 | Tier 1: coding |
| rs535794280 | 7 | 13140214 | G>A | 0 | intron_variant | RBMX2P4 - ETV1 | 3e-11 | Tier 4: intronic/intergenic |
| rs185803710 | 6 | 138226018 | C>T | intron_variant | ARFGEF3 | 9e-08 | 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 |
|---|---|
| PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01349790 | PHASE3 | COMPLETED | Efficacy and Safety of Immunoglobulin Intravenous (Human) 10% (NewGam) in Primary Immune Thrombocytopenia |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| HUMAN IMMUNOGLOBULIN G | 4 | 1 |
Related Atlas pages
- Drugs: Human Immunoglobulin G