desmoid tumor
Findings
No curated finding names desmoid tumor yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.
Definition from the Mondo Disease Ontology (MONDO:0007608), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Gastrointestinal desmoid tumorHPOHP:0100245
- 7 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal abdominal wall morphologyHPOHP:0004298
- Very frequent (80% to 99% of cases)
- Abnormality of the musculatureHPOHP:0003011
- Very frequent (80% to 99% of cases)
- FibromaHPOHP:0010614
- Very frequent (80% to 99% of cases)
- Subcutaneous noduleHPOHP:0001482
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
Show the remaining 11
- Chest painHPOHP:0100749
- Occasional (5% to 29% of cases)
- Gastrointestinal hemorrhageHPOHP:0002239
- Occasional (5% to 29% of cases)
- HydronephrosisHPOHP:0000126
- Occasional (5% to 29% of cases)
- Intestinal obstructionHPOHP:0005214
- Occasional (5% to 29% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Occasional (5% to 29% of cases)
- Neoplasm of the skinHPOHP:0008069
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- APCHGNC:583
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
- Narrower terms (1)
Other names
7 names
Resolves to: desmoid tumor
- Also called
- aggressive fibromatosisdeep fibromatosisdeep fibromatosis/desmoid tumordeep fibromatosis/desmoid tumourdesmoid fibromatosisdesmoid type fibromatosisdesmoid-type fibromatosis