FIBROMATOSIS, GINGIVAL, 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FIBROMATOSIS, GINGIVAL, HEREDITARY GINGF1 GINGF GGF1 HGF |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
135300
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000169) | Gingival fibromatosis | 14 / 7739 | ||||
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(OMIM) | Normal alveolar bone | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by Hart et al., 2002). - Genetic Heterogeneity of Hereditary Gingival Fibromatosis ... |
| Clinical Description OMIM |
Emerson (1965) reported a family in which 13 individuals in 4 generations had gingival fibromatosis. Becker et al. (1967) described gingival fibromatosis without other features in mother, son, and daughter. Although Zackin and Weisberger (1961) stated ... |
| Molecular genetics OMIM | Hart et al. (2002) identified a heterozygous frameshift mutation in the SOS1 gene (182530.0001) as the cause of autosomal dominant hereditary gingival fibromatosis in a large Brazilian family showing linkage to 2p21. |