Details of Disease

General Information of Disease (ID: DIS2TQ5E)

Disease Name Fibromatosis, gingival, 1
Synonyms
fibromatosis, gingival, hereditary; hereditary gingival fibromatosis, 1; fibromatosis gingival, hereditary, 1; HGF1; GGF1; gingival fibromatosis, 1; GINGF; GINGF1; fibromatosis, gingival, type 1; SOS1 hereditary gingival fibromatosis; hereditary gingival fibromatosis caused by mutation in SOS1; SOS1 gingival fibromatosis; fibromatosis, gingival, 1; gingival fibromatosis caused by mutation in SOS1
Definition Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.
Disease Hierarchy
DISN1ML3: Hereditary gingival fibromatosis
DIS2TQ5E: Fibromatosis, gingival, 1
Disease Identifiers
MONDO ID
MONDO_0007609
MESH ID
C562884
UMLS CUI
C4551558
OMIM ID
135300
MedGen ID
1647111

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
REST OTLL92LQ Strong Genetic Variation [1]
SOS1 OTTCWXC3 Strong Autosomal dominant [2]
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References

1 REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 Jul 6;101(1):149-156. doi: 10.1016/j.ajhg.2017.06.006.
2 A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am J Hum Genet. 2002 Apr;70(4):943-54. doi: 10.1086/339689. Epub 2002 Feb 26.