Thrombocytopenia 10

Summary

Thrombocytopenia 10 (MONDO:0957578) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	thrombocytopenia 10
Mondo ID	MONDO:0957578
OMIM	620484
UMLS	C5882682
MedGen	1847819
GARD	0026868
Is cancer (heuristic)	no

Data availability: 2 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › blood platelet disease › thrombocytopenia › inherited thrombocytopenia › thrombocytopenia 10

Related subtypes (20): thrombocytopenia 2, thrombocytopenia, cyclic, thrombocytopenia 3, congenital thrombotic thrombocytopenic purpura, thrombocytopenia, X-linked, with or without dyserythropoietic anemia, thrombocytopenia 1, thrombocytopenia 4, thrombocytopenia 5, autosomal dominant macrothrombocytopenia, isolated delta-storage pool disease, syndromic constitutional thrombocytopenia, alpha granule disease, thrombocytopenia 7, macrothrombocytopenia, isolated, congenital autosomal recessive small-platelet thrombocytopenia, congenital amegakaryocytic thrombocytopenia, thrombocytopenia 9, thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, thrombocytopenia 12 with or without myopathy, thrombocytopenia 13, syndromic

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

ClinVar germline variants

2 retrieved; paginated sample, class counts are floors:

2 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2577546	NM_002843.4(PTPRJ):c.97-2A>G	PTPRJ	Pathogenic	no assertion criteria provided
2577547	NM_002843.4(PTPRJ):c.1875del	PTPRJ	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
PTPRJ	Moderate	Autosomal recessive	thrombocytopenia 10	3

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PTPRJ	HGNC:9673	ENSG00000149177	Q12913	Receptor-type tyrosine-protein phosphatase eta	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PTPRJ	Receptor-type tyrosine-protein phosphatase eta	Tyrosine phosphatase which dephosphorylates or contributes to the dephosphorylation of CTNND1, FLT3, PDGFRB, MET, KDR, LYN, SRC, MAPK1, MAPK3, EGFR, TJP1, OCLN, PIK3R1 and PIK3R2.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Phosphatase	1	83.9×	0.012

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PTPRJ	Phosphatase	yes	3.1.3.48	PTP_cat, Tyr_Pase_dom, Tyr_Pase_cat

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
ileal mucosa	1
leukocyte	1
monocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PTPRJ	242	ubiquitous	marker	ileal mucosa, leukocyte, monocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PTPRJ	1,754

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PTPRJ	Q12913	5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Negative regulation of FLT3	1	713.8×	0.003	PTPRJ
Phosphorylation of CD3 and TCR zeta chains	1	543.8×	0.003	PTPRJ
Negative regulation of MET activity	1	519.1×	0.003	PTPRJ
Neutrophil degranulation	1	23.1×	0.043	PTPRJ

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
contact inhibition	1	4213.0×	0.005	PTPRJ
positive regulation of Fc receptor mediated stimulatory signaling pathway	1	3370.4×	0.005	PTPRJ
negative regulation of platelet-derived growth factor receptor signaling pathway	1	1872.4×	0.005	PTPRJ
negative regulation of MAP kinase activity	1	1404.3×	0.005	PTPRJ
positive regulation of platelet activation	1	1296.3×	0.005	PTPRJ
negative regulation of vascular permeability	1	1123.5×	0.005	PTPRJ
peptidyl-tyrosine dephosphorylation	1	887.0×	0.005	PTPRJ
positive regulation of macrophage chemotaxis	1	802.5×	0.005	PTPRJ
positive chemotaxis	1	802.5×	0.005	PTPRJ
negative regulation of epidermal growth factor receptor signaling pathway	1	766.0×	0.005	PTPRJ
platelet formation	1	702.2×	0.005	PTPRJ
positive regulation of focal adhesion assembly	1	648.1×	0.005	PTPRJ
platelet-derived growth factor receptor signaling pathway	1	561.7×	0.005	PTPRJ
oligodendrocyte differentiation	1	421.3×	0.006	PTPRJ
positive regulation of calcium-mediated signaling	1	421.3×	0.006	PTPRJ
negative regulation of insulin receptor signaling pathway	1	374.5×	0.006	PTPRJ
negative regulation of T cell receptor signaling pathway	1	366.4×	0.006	PTPRJ
positive regulation of phagocytosis	1	318.0×	0.006	PTPRJ
regulation of cell adhesion	1	306.4×	0.006	PTPRJ
positive regulation of cell adhesion	1	271.8×	0.007	PTPRJ
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1	263.3×	0.007	PTPRJ
vasculogenesis	1	255.3×	0.007	PTPRJ
B cell differentiation	1	218.9×	0.007	PTPRJ
blood coagulation	1	173.7×	0.009	PTPRJ
positive regulation of tumor necrosis factor production	1	153.2×	0.009	PTPRJ
T cell receptor signaling pathway	1	151.8×	0.009	PTPRJ
negative regulation of cell growth	1	144.0×	0.010	PTPRJ
cytokine-mediated signaling pathway	1	130.6×	0.010	PTPRJ
glucose homeostasis	1	130.6×	0.010	PTPRJ
negative regulation of cell migration	1	111.6×	0.011	PTPRJ

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PTPRJ	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PTPRJ	5	Binding:4, ADMET:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
PTPRJ	3.1.3.48	protein-tyrosine-phosphatase

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	PTPRJ
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
PTPRJ	5	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.