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fibromatosis, gingival, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fibromatosis, gingival, 1

MONDO:0007609

Also known as:SOS1 gingival fibromatosisSOS1 hereditary gingival fibromatosisfibromatosis, gingival, type 1

Overview

Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.

GeneticsAutosomal dominant · SOS1 (chr 2)

ResearchLimited published research (8 articles)

Clinical Presentation

Features include always present findings: Gingival fibromatosis. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	1	Hearing loss (hearing impairment)
Brain and nerves	1	Intellectual disability

Explore clinical features

Genetic Landscape

SOS1 function has not been fully characterized.

Fibromatosis, gingival, 1 is associated with mutations in the SOS1 gene on chromosome 2.

Diagnosis

Genetic testing for SOS1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for fibromatosis, gingival, 1.

8 publications have been identified in PubMed for fibromatosis, gingival, 1. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Liu X (2026). [PMID: 39887402](https://pubmed.ncbi.nlm.nih.gov/39887402/). *J Periodontal Res*. [Basic Science / Preclinical]
Gao Q (2026). [PMID: 41290531](https://pubmed.ncbi.nlm.nih.gov/41290531/). *J Oral Pathol Med*. [Basic Science / Preclinical]
Dutra Oliveira AMS (2026). [PMID: 39812307](https://pubmed.ncbi.nlm.nih.gov/39812307/). *Clin Adv Periodontics*. [Case Report / Case Series]
Xu JL (2025). [PMID: 41184011](https://pubmed.ncbi.nlm.nih.gov/41184011/). *Zhonghua Kou Qiang Yi Xue Za Zhi*. [Review / Meta-Analysis]
Xie Y (2025). [PMID: 40480946](https://pubmed.ncbi.nlm.nih.gov/40480946/). *Oral Surg Oral Med Oral Pathol Oral Radiol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:135300

GARD

Genetic and Rare Diseases Info Center

GARD:6509

Questions for Your Care Team

→Should I pursue genetic testing for SOS1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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fibromatosis, gingival, 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team