Fibromatosis, Gingival, 3

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

Genes

SOS1, GINGF2, REST, HGF, TGFB1, MET, IL6, TIMP1, SERPINH1, FN1, VEGFA, IL1B, HPSE, MMP1, EGFR, MMP2, CCN2, CAV1, TGFBR2, TGFB3, THAS, TGFB2, TIMP2, SMN2, SMN1, SHH, TNF, TP53, ACTB, SOCS1

SOS1, GINGF2, REST, HGF, TGFB1, MET, IL6, TIMP1, SERPINH1, FN1, VEGFA, IL1B, HPSE, MMP1, EGFR, MMP2, CCN2, CAV1, TGFBR2, TGFB3, THAS, TGFB2, TIMP2, SMN2, SMN1, SHH, TNF, TP53, ACTB, SOCS1, SLC52A2, LINC02605, COMETT, GINGF3, MIR335, MIR93, NRK, PWAR1, ASH1L, NR1I2, SLC25A37, UNC50, PAK4, ENAM, SEMA3E, CD163, MAPK8, MSC, PIK3CA, MAPK1, HBG1, GPT, FGF1, F2R, EZH2, EPHB2, MARK2, EGF, CTNNB1, CDKN2A, CDK9, CDK2, BMP7, BMP2, ASCL1, XIAP, HAS3, HBG2, PIK3R1, HPN, PIK3CG, PIK3CD, PIK3CB, ALB, PCNA, NGF, MMP9, KISS1, IL13, CXCL8, IL7, IGF1, IFNG, ICAM1, HES1, H3P10

Drugs

—

Interested in hearing about new therapies?

For phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF (135300).

Clinical Features

Ye et al. (2005) ascertained a 5-generation Chinese family with autosomal dominant nonsyndromic hereditary gingival fibromatosis, with onset between 2 to 6 years of age, around the time of tooth eruption. The 12 individuals examined all had typical findings, but gingival involvement was variable, ranging from mild to severe.

Mapping

By haplotype construction and analysis in a 5-generation Chinese family segregating autosomal dominant hereditary gingival fibromatosis, Ye et al. (2005) identified a novel locus for this disorder, which they designated GINGF3, in an 11.4-cM interval between markers D2S2221 and D2S1788 on chromosome 2p23.3-p22.3. Maximum 2-point and multipoint lod scores of 3.45 and 5.00, respectively, were achieved for this region. Ye et al. (2005) noted that this locus is distal to and does not overlap with the previously described GINGF locus on 2p22-p21.