Palmar fibromatosis

Summary

Palmar fibromatosis (MONDO:0006345) is a disease with 1 cohort gene and 29 clinical trials. Top therapeutic interventions include collagenase clostridium histolyticum and tranexamic acid.

At a glance

• Cohort genes: 1
• Clinical trials: 29

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	palmar fibromatosis
Mondo ID	MONDO:0006345
EFO	EFO:1000438
MeSH	D004387
ICD-11	160345690
NCIT	C3469
SNOMED CT	203045001
UMLS	C4085370
MedGen	903450
Anatomy (UBERON)	UBERON:0008878
Is cancer (heuristic)	no

Also known as: Dupuytren contracture · Dupuytren contracture (disease) · palmar fibromatosis · palmar part of manus fibromatosis

Data availability: 1 GenCC gene-disease record · 1 HPO phenotype.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › mesenchymal cell neoplasm › fibroblastic neoplasm › fibromatosis › superficial Fibromatosis › palmar fibromatosis

Related subtypes (5): plantar fibromatosis, familial Dupuytren contracture, Peyronie disease, calcified aponeurotic fibroma, infantile digital fibromatosis

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.

Gene	Classification	Inheritance	Disease	Records
ASTE1	Limited	Autosomal dominant	palmar fibromatosis

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
ASTE1	HGNC:25021	ENSG00000034533	Q2TB18	Single-strand DNA endonuclease ASTE1	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ASTE1	Single-strand DNA endonuclease ASTE1	Structure-specific DNA endonuclease that specifically cleaves single-stranded DNA and 3’ overhang DNA.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ASTE1	Other/Unknown	no		XPG_DNA_repair_N, Asteroid, PIN-like_dom_sf

Expression context

Cohort genes with no expression data: 0.

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
male germ cell	1
male germ line stem cell (sensu Vertebrata) in testis	1
sperm	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ASTE1	233	ubiquitous	yes	sperm, male germ cell, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ASTE1	1,232

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ASTE1	Q2TB18	85.40

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
double-strand break repair via nonhomologous end joining	1	421.3×	0.005	ASTE1
double-strand break repair via homologous recombination	1	156.0×	0.006	ASTE1

Therapeutics

Drugs indicated for this disease

1 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Collagenase Clostridium Histolyticum	Approved (phase 4)
Triamcinolone Acetonide	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Adalimumab, Bupivacaine, Platelets, Sodium Chloride.

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ASTE1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	ASTE1

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)
ASTE1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 29.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	18
PHASE4	6
PHASE2	3
PHASE3	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03192020	PHASE4	ACTIVE_NOT_RECRUITING	Trial Comparing Treatment Strategies in Dupuytren’s Contracture
NCT05440240	PHASE4	RECRUITING	Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture
NCT06806410	PHASE4	ACTIVE_NOT_RECRUITING	The Efficacy of Liposomal Bupivacaine in Ultrasound Guided Supraclavicular Nerve Blocks for Hand and Wrist Surgery
NCT02647619	PHASE4	COMPLETED	Dupuytren´s Disease Study. Primary Disease, MCP Joint, Xiapex, PNF
NCT03000114	PHASE4	UNKNOWN	Collagenase Injection vs Percutaneous Needle Aponeurotomy for Dupuytren’s Disease
NCT04907812	PHASE4	UNKNOWN	The Role of Tranexamic Acid in Reducing Post Operative Hand Edema After Hand and Wrist Surgery
NCT01776892	PHASE3	WITHDRAWN	Collagenase and Needle Aponeurotomy: Single Modality Versus Combination Treatment for Dupuytren’s Disease
NCT04874870	PHASE3	COMPLETED	Effectiveness of Splinting After Collagenase Injection
NCT07227649	PHASE2	NOT_YET_RECRUITING	NAC-REPAIR for Post-surgical Pain
NCT01184586	PHASE2	UNKNOWN	Dupuytren’s Disease and Extracorporeal Shockwave Therapy (DupuyShock-2010)
NCT03111186	PHASE2	COMPLETED	Ibuprofen Plus Acetaminophen Versus Oxycodone Alone After Hand Surgery
NCT03155854	Not specified	RECRUITING	The Effects of Prophylactic Limited Palmar Fasciectomy on Surgical Outcomes and Scarring
NCT04122313	Not specified	RECRUITING	Post-contracture Release Radiation for Dupuytren’s Disease
NCT05300893	Not specified	RECRUITING	Effectiveness of Night Splinting After Percutaneous Needle Fasciotomy in Dupuytren’s Contracture
NCT06330545	Not specified	RECRUITING	Radiation Therapy for Dupuytren’s Contracture Following Non-Surgical Release
NCT06788847	Not specified	RECRUITING	Evaluating Ultrasound-Guided Needle Knife for Dupuytren’s Contracture
NCT07158892	Not specified	NOT_YET_RECRUITING	Understanding Patient Preferences When Deciding on a Voluntary Musculoskeletal Test
NCT07443371	Not specified	NOT_YET_RECRUITING	Effect of Transfer Energy Capacitive and Resistive Therapy on Palmar Fibromatosis
NCT01876498	Not specified	COMPLETED	Registry of Patient With M. Dupuytren and Validation of the Brief MHQ
NCT01923103	Not specified	COMPLETED	Natural Disease Progress of Dupuytren Disease
NCT02983162	Not specified	COMPLETED	Is wGRS Associated With DD Recurrence?
NCT03031080	Not specified	WITHDRAWN	BOND Study: the Benefit Of Night Splinting in Dupuytrens’
NCT03331926	Not specified	COMPLETED	Collagenase is a Common Treatment of MCP and PIP Joint Contractures in Dupuytrens Disease
NCT03407820	Not specified	COMPLETED	Nylon Versus Chromic Gut Sutures for Minor Hand Surgery
NCT03573765	Not specified	COMPLETED	Epidemiology and Outcomes of Upper Limb Surgery: Analysis of Routine Data
NCT03741764	Not specified	UNKNOWN	Treatment of Dupuytren’s Disease With Minimal Invasive Surgery and VIVOSORB® Resorbable Implant Device
NCT03868449	Not specified	COMPLETED	Question Prompt List for Common Hand Conditions
NCT03982719	Not specified	UNKNOWN	Comparing the Effectiveness of Two Post-fasciectomy Rehabilitation Protocols in Patients With Dupuytren’s Disease
NCT06248866	Not specified	UNKNOWN	Effect Of Extracorporeal Shock Wave Therapy On Ultrasonography Changes In Patients With Palmar Fibromatosis: A Randomized Controlled Trial

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
COLLAGENASE CLOSTRIDIUM HISTOLYTICUM	4	5
TRANEXAMIC ACID	4	1