punctate palmoplantar keratoderma type III
diseaseOn this page
Also known as acrokeratoelastoidosis of Costaaganglionosis, total colonicAKEcollagenous plaques of hand and feetkeratoderma, palmoplantar, punctate type 3near-total intestinal aganglionosisNTIApalmoplantar keratoderma, punctate type 3palmoplantar keratoderma, punctate type IIIPPKP3punctate palmoplantar hyperkeratosis type 3punctate palmoplantar keratoderma type 3rare form of Hirschsprung's diseaseTIA
Summary
punctate palmoplantar keratoderma type III (MONDO:0007047) is a disease and 87 clinical trials. Top therapeutic interventions include clopidogrel, rivaroxaban, and apixaban. A subtype of punctate palmoplantar keratoderma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide)
- Phenotypes (HPO): 12
- Clinical trials: 87
Clinical features
Signs & symptoms
Clinical features (HPO)
12 HPO clinical features (Orphanet curated; top 12 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000972 | Palmoplantar hyperkeratosis | Very frequent (80-99%) |
| HP:0025092 | Epidermal acanthosis | Very frequent (80-99%) |
| HP:0025167 | Fragmented elastic fibers in the dermis | Very frequent (80-99%) |
| HP:0045059 | Hyperkeratotic papule | Very frequent (80-99%) |
| HP:0002955 | Granulomatosis | Frequent (30-79%) |
| HP:0025114 | Hypergranulosis | Frequent (30-79%) |
| HP:0025507 | Yellow papule | Frequent (30-79%) |
| HP:0040162 | Orthokeratosis | Frequent (30-79%) |
| HP:0006089 | Palmar hyperhidrosis | Occasional (5-29%) |
| HP:0025509 | Piezogenic pedal papules | Occasional (5-29%) |
| HP:0200035 | Skin plaque | Occasional (5-29%) |
| HP:0002814 | Abnormality of the lower limb | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | punctate palmoplantar keratoderma type III |
| Mondo ID | MONDO:0007047 |
| EFO | EFO:1000758 |
| MeSH | C535653 |
| OMIM | 101850 |
| Orphanet | 38 |
| DOID | DOID:0060362 |
| UMLS | C0545044 |
| MedGen | 107467 |
| GARD | 0000125 |
| Is cancer (heuristic) | no |
Also known as: acrokeratoelastoidosis of Costa · aganglionosis, total colonic · AKE · ake · collagenous plaques of hand and feet · keratoderma, palmoplantar, punctate type 3 · near-total intestinal aganglionosis · NTIA · palmoplantar keratoderma, punctate type 3 · palmoplantar keratoderma, punctate type III · PPKP3 · punctate palmoplantar hyperkeratosis type 3 · punctate palmoplantar keratoderma type 3 · rare form of Hirschsprung’s disease · TIA
Disease family
This is a subtype of punctate palmoplantar keratoderma. 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 › integumentary system disorder › skin disorder › keratosis › palmoplantar keratosis › hereditary palmoplantar keratoderma › punctate palmoplantar keratoderma › punctate palmoplantar keratoderma type III
Related subtypes (3): punctate palmoplantar keratoderma type 2, focal acral hyperkeratosis, punctate palmoplantar keratoderma type 1
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
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 87.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 64 |
| PHASE3 | 8 |
| PHASE4 | 5 |
| PHASE2 | 4 |
| PHASE2/PHASE3 | 3 |
| PHASE1 | 3 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03568890 | PHASE4 | ACTIVE_NOT_RECRUITING | Short-Term Anticoagulation Versus Antiplatelet Therapy for Preventing Device Thrombosis Following Left Atrial Appendage Closure |
| NCT01097967 | PHASE4 | UNKNOWN | Sleep Disordered Breathing in Transient Ischemic Attack (TIA)/Ischemic Stroke and Continuous Positive Airway Pressure (CPAP) Treatment Efficacy |
| NCT01236508 | PHASE4 | TERMINATED | Relation of Carotid Artery Plaque Inflammation, Covert Stroke and White Matter Disease |
| NCT03749057 | PHASE4 | COMPLETED | Early Rivaroxaban for Acute Ischemic Stroke or TIA Patients With Atrial Fibrillation |
| NCT06522113 | PHASE4 | COMPLETED | Cilostazol and Aspirin in Stroke and TIA |
| NCT05476991 | PHASE3 | RECRUITING | Evaluation of Low Dose Colchicine and Ticagrelor in Prevention of Ischemic Stroke in Patients With Stroke Due to Atherosclerosis |
| NCT06225752 | PHASE3 | RECRUITING | Probucol for Symptomatic Intracranial and Extracranial Artery Stenosis |
| NCT06319846 | PHASE3 | RECRUITING | Tirofiban for Patients With intraCranial Artery Stenosis and High-risk Acute Non-disabling Cerebrovascular Events(CHANCE-4） |
| NCT07174414 | PHASE3 | NOT_YET_RECRUITING | Cilostazol for Prevention of Recurrent Stroke Trial |
| NCT00536562 | PHASE3 | COMPLETED | Cardiac Rehabilitation for TIA Patients |
| NCT00662818 | PHASE3 | COMPLETED | Telcagepant (MK-0974) Treatment of Migraine in Participants With Stable Vascular Disease (MK-0974-034) |
| NCT01923818 | PHASE2/PHASE3 | UNKNOWN | Treatment of Rivaroxaban Versus Aspirin for Non-disabling Cerebrovascular Events |
| NCT01924325 | PHASE2/PHASE3 | UNKNOWN | Apixaban Versus Dual-antiplatelet Therapy (Clopidogrel and Aspirin) in Acute Non-disabling Cerebrovascular Events |
| NCT02541032 | PHASE3 | UNKNOWN | PeRiodontal Treatment to Eliminate Minority InEquality and Rural Disparities in Stroke |
| NCT04236427 | PHASE2/PHASE3 | UNKNOWN | Efficacy and Safety of Angong Niuhuang Wan for Stroke |
| NCT05439356 | PHASE3 | COMPLETED | Colchicine in High-risk Patients With Acute Minor-to-moderate Ischemic Stroke or Transient Ischemic Attack (CHANCE-3) |
| NCT07104487 | PHASE2 | RECRUITING | [18F]AlF-NOTA-octreotide PET/MRI in Carotid Artery Disease |
| NCT01645306 | PHASE2 | COMPLETED | Revacept in Symptomatic Carotid Stenosis |
| NCT03891277 | PHASE2 | UNKNOWN | Efficacy and Safety of Ferrous Iron on the Prevention of Vascular Cognitive Impairment Among Patients With Cerebral Infarction/TIA (FAVORITE) |
| NCT03979781 | PHASE2 | COMPLETED | Personalized Antiplatelet Secondary Stroke PRevenTion |
| NCT01175876 | PHASE1 | UNKNOWN | The Effect Of Remote Limb Ischemic Preconditioning For Carotid Artery Stenting |
| NCT04580238 | PHASE1 | WITHDRAWN | Onabotulinum Toxin A (Botox) for the Treatment of Persistent Post-Stroke and Vascular Headache |
| NCT05878457 | PHASE1 | COMPLETED | Accelerated rTMS for Post-Stroke Apathy |
| NCT00642213 | Not specified | ACTIVE_NOT_RECRUITING | A Comparison of Hemorrhagic and Ischemic Strokes Among Blacks and Whites |
| NCT05134454 | Not specified | RECRUITING | Atrial Fibrillation Screening Post Ischemic Cerebrovascular Events |
| NCT05378490 | Not specified | RECRUITING | The Akershus Study of Ischemic Stroke and Thrombolysis -1 |
| NCT05518305 | Not specified | RECRUITING | Platelet Expression of FcγRIIa and Arterial Hemodynamics to Predict Recurrent Stroke in Intracranial Atherosclerosis |
| NCT05529901 | Not specified | ACTIVE_NOT_RECRUITING | Japan Post Marketing Surveillance of the GORE® CARDIOFORM Septal Occluder |
| NCT05885295 | Not specified | RECRUITING | The Imperial Comprehensive Cognitive Assessment in Cerebrovascular Disease (IC3) |
| NCT05975554 | Not specified | ACTIVE_NOT_RECRUITING | The Effect of Low-dose Interleukin-2 on the Immune Landscape of Human Atherosclerotic Plaques at Single Cell Resolution. |
| NCT06192953 | Not specified | RECRUITING | Early Functional Proprioceptive Stimulation Post-stroke |
| NCT06315192 | Not specified | RECRUITING | Stroke Alarm Efficacy Trial |
| NCT06495073 | Not specified | RECRUITING | Determining the MCID for the TOPICS-SF and PROMIS-10 in Older Patients That Suffered an Ischemic Stroke or TIA |
| NCT06569121 | Not specified | RECRUITING | Efficacy of a Telehealth Delivered Group Lifestyle Balance for People Post Stroke (tGLB-CVA) |
| NCT06605014 | Not specified | RECRUITING | Somatic Dysfunction in Patients With Acute Cerebrovascular Disease |
| NCT06728592 | Not specified | RECRUITING | Emergency Stroke Unit for Acute Cerebrovascular Events: A Prospective, Single-arm Trial With a Historical Control Group |
| NCT06753149 | Not specified | NOT_YET_RECRUITING | Evaluation of the Efficacy of Novel Biomarkers in Predicting Clopidogrel Resistance in Patients with Ischemic Stroke |
| NCT06775028 | Not specified | RECRUITING | Integrated Approach in Frail Older People with Atrial Fibrillation |
| NCT06785740 | Not specified | RECRUITING | Statins in Frail Older Patients with Ischemic Stroke or Transient Ischemic Attack - the Prospective Cohort Study |
| NCT06986954 | Not specified | RECRUITING | Beacon Tip Sizing Catheter and Slip-Cath Beacon Tip Catheter Study |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CLOPIDOGREL | 4 | 4 |
| RIVAROXABAN | 4 | 3 |
| APIXABAN | 4 | 2 |
| CILOSTAZOL | 4 | 2 |
| COLCHICINE | 4 | 2 |
| DABIGATRAN ETEXILATE | 4 | 1 |
| MINOCYCLINE HYDROCHLORIDE | 4 | 1 |
| PEMAFIBRATE | 4 | 1 |
| PROBUCOL | 4 | 1 |
| TIROFIBAN | 4 | 1 |
| DABIGATRAN | 3 | 1 |
| FERROUS SUCCINATE | 3 | 1 |
| TELCAGEPANT | 3 | 1 |
| CHEMBL454299 | 0 | 1 |