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Atlas / Disease / Platelet-type bleeding disorder 12

Platelet-type bleeding disorder 12

disease
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Also known as BDPLT12bleeding disorder, platelet-type, 12PGHS1 deficiencyplatelet COX1 deficiencyplatelet cyclooxygenase 1 deficiency

Summary

Platelet-type bleeding disorder 12 (MONDO:0011588) is a disease with 1 cohort gene.

At a glance

  • Cohort genes: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameplatelet-type bleeding disorder 12
Mondo IDMONDO:0011588
MeSHC567786
OMIM605735
DOIDDOID:0111058
UMLSC2751535
MedGen414043
GARD0010575
Is cancer (heuristic)no

Also known as: BDPLT12 · bleeding disorder, platelet-type, 12 · PGHS1 deficiency · platelet COX1 deficiency · platelet cyclooxygenase 1 deficiency

Data availability: 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › hemorrhagic disease › inherited bleeding disorder, platelet-type › platelet-type bleeding disorder 12

Related subtypes (27): gray platelet syndrome, primary release disorder of platelets, platelet-type von Willebrand disease, platelet-type bleeding disorder 16, platelet-type bleeding disorder 17, Ehlers-Danlos syndrome, fibronectinemic type, Bernard-Soulier syndrome, Scott syndrome, congenital thrombotic thrombocytopenic purpura, Quebec platelet disorder, platelet-type bleeding disorder 10, platelet-type bleeding disorder 8, platelet-type bleeding disorder 14, platelet-type bleeding disorder 9, platelet-type bleeding disorder 11, platelet-type bleeding disorder 15, platelet-type bleeding disorder 18, platelet-type bleeding disorder 19, platelet-type bleeding disorder 20, macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, bleeding disorder, platelet-type, 24, bleeding disorder, platelet-type, 22, bleeding disorder, platelet-type, 21, Glanzmann thrombasthenia, bleeding diathesis due to thromboxane synthesis deficiency, bleeding disorder, platelet-type, 25

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

Mendelian disease overlap and somatic drivers

GenCC: 1 · 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.

GeneClassificationInheritanceDiseaseRecords
PTGS1ModerateAutosomal recessiveplatelet-type bleeding disorder 12

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
PTGS1HGNC:9604ENSG00000095303P23219Prostaglandin G/H synthase 1gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
PTGS1Prostaglandin G/H synthase 1Dual cyclooxygenase and peroxidase that plays an important role in the biosynthesis pathway of prostanoids, a class of C20 oxylipins mainly derived from arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate, AA, C20:4(n-6)), with a particular ro…

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.

FamilyGenesFoldFDR
Enzyme (other)112.0×0.083

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
PTGS1Enzyme (other)yes1.14.99.1EGF, Haem_peroxidase_sf, Haem_peroxidase_animal

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)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
germinal epithelium of ovary1
monocyte1
stromal cell of endometrium1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
PTGS1255ubiquitousmarkerstromal cell of endometrium, germinal epithelium of ovary, monocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
PTGS12,515

Structural data

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

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
PTGS1P232191

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. 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.

PathwayCohort genesFoldFDRSample cohort genes
COX reactions111420.0×2e-04PTGS1
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)1761.3×0.001PTGS1

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 termCohort genesFoldFDRSample cohort genes
cyclooxygenase pathway11872.4×0.003PTGS1
prostaglandin biosynthetic process11123.5×0.003PTGS1
long-chain fatty acid biosynthetic process1443.5×0.005PTGS1
regulation of blood pressure1221.7×0.007PTGS1
response to oxidative stress1130.6×0.009PTGS1
regulation of cell population proliferation1115.4×0.009PTGS1

Therapeutics

Drug target analysis

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

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

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
PTGS1CELECOXIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
PTGS12724

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
CELECOXIB4PTGS1
ASPIRIN4PTGS1
INDOMETHACIN4PTGS1
ETODOLAC4PTGS1
LEVODOPA4PTGS1
PHENYLBUTAZONE4PTGS1
TOLMETIN4PTGS1
TIAGABINE4PTGS1
DICLOFENAC SODIUM4PTGS1
CHOLECALCIFEROL4PTGS1
OXAPROZIN4PTGS1
BROMFENAC4PTGS1
PHENELZINE4PTGS1
INDIGOTINDISULFONATE4PTGS1
2-MERCAPTOETHANESULFONIC ACID4PTGS1
ARIPIPRAZOLE4PTGS1
TELITHROMYCIN4PTGS1
EZETIMIBE4PTGS1
MOMETASONE FUROATE4PTGS1
DESLORATADINE4PTGS1
PRUCALOPRIDE4PTGS1
TRIMETREXATE4PTGS1
CEPHALOGLYCIN4PTGS1
ESTRADIOL CYPIONATE4PTGS1
DEXPANTHENOL4PTGS1
CEFPODOXIME PROXETIL4PTGS1
SERTACONAZOLE4PTGS1
TRIPTORELIN4PTGS1
RABEPRAZOLE4PTGS1
ROFECOXIB4PTGS1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

SymbolAssaysType breakdown
PTGS1958Binding:878, Functional:42, ADMET:38

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
PTGS11.14.99.1prostaglandin-endoperoxide synthase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
PTGS1958

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

30 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.

CompoundMax phaseCohort target (bioactivity)
CELECOXIB4PTGS1
ASPIRIN4PTGS1
INDOMETHACIN4PTGS1
ETODOLAC4PTGS1
LEVODOPA4PTGS1
PHENYLBUTAZONE4PTGS1
TOLMETIN4PTGS1
TIAGABINE4PTGS1
DICLOFENAC SODIUM4PTGS1
CHOLECALCIFEROL4PTGS1
OXAPROZIN4PTGS1
BROMFENAC4PTGS1
PHENELZINE4PTGS1
INDIGOTINDISULFONATE4PTGS1
2-MERCAPTOETHANESULFONIC ACID4PTGS1
ARIPIPRAZOLE4PTGS1
TELITHROMYCIN4PTGS1
EZETIMIBE4PTGS1
MOMETASONE FUROATE4PTGS1
DESLORATADINE4PTGS1
PRUCALOPRIDE4PTGS1
TRIMETREXATE4PTGS1
CEPHALOGLYCIN4PTGS1
ESTRADIOL CYPIONATE4PTGS1
DEXPANTHENOL4PTGS1
CEFPODOXIME PROXETIL4PTGS1
SERTACONAZOLE4PTGS1
TRIPTORELIN4PTGS1
RABEPRAZOLE4PTGS1
ROFECOXIB4PTGS1

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1PTGS1
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 69

This page pulls from 69 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot