Infantile digital fibromatosis
diseaseOn this page
Also known as asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toesdigital fibrous tumor of Reyedigital fibrous tumour of ReyeIDFinclusion body fibromatosisinclusion body fibromatosis (disease)infantile digital fibroma/fibromatosisrecurring digital fibrous tumor of childhoodrecurring digital fibrous tumour of childhoodReye tumorReye tumourReye's tumorReye's tumour
Summary
Infantile digital fibromatosis (MONDO:0016039) is a disease. A subtype of superficial Fibromatosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 5
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 200 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
5 HPO clinical features (Orphanet curated; top 5 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0200036 | Skin nodule | Obligate (100%) |
| HP:0000962 | Hyperkeratosis | Frequent (30-79%) |
| HP:0001036 | Parakeratosis | Frequent (30-79%) |
| HP:0025092 | Epidermal acanthosis | Frequent (30-79%) |
| HP:0012531 | Pain | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | infantile digital fibromatosis |
| Mondo ID | MONDO:0016039 |
| Orphanet | 199267 |
| ICD-11 | 246280296 |
| NCIT | C3456 |
| SNOMED CT | 399903008 |
| UMLS | C1318562 |
| MedGen | 232929 |
| GARD | 0008487 |
| Is cancer (heuristic) | no |
Also known as: asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes · digital fibrous tumor of Reye · digital fibrous tumour of Reye · IDF · inclusion body fibromatosis · inclusion body fibromatosis (disease) · infantile digital fibroma/fibromatosis · infantile digital fibromatosis · recurring digital fibrous tumor of childhood · recurring digital fibrous tumour of childhood · Reye tumor · Reye tumour · Reye’s tumor · Reye’s tumour
Data availability: 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 › infantile digital fibromatosis
Related subtypes (5): plantar fibromatosis, palmar fibromatosis, familial Dupuytren contracture, Peyronie disease, calcified aponeurotic fibroma
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: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.