fibromatosis, gingival, 1
MONDO:0007609Mondo
Findings
No curated finding names fibromatosis, gingival, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007609), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Gingival fibromatosisHPOHP:0000169
- 38 of 38 reported patients
- Hearing impairmentHPOHP:0000365
- 0 of 38 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 38 reported patients
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.
- SOS1HGNC:11187
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
5 names
Resolves to: fibromatosis, gingival, 1
- Also called
- fibromatosis, gingival, type 1gingival fibromatosis caused by mutation in SOS1hereditary gingival fibromatosis caused by mutation in SOS1SOS1 gingival fibromatosisSOS1 hereditary gingival fibromatosis