Fibromatosis, Gingival, 2

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Retrieved

2019-09-22

Source

Omim

Trials

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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

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Description

Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive enlargement of the oral gingival tissues (summary by Xiao et al., 2001).

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

Clinical Features

Xiao et al. (2001) reported a 4-generation Chinese family in which gingival fibromatosis manifested in the first year of life.

Mapping

In a 4-generation Chinese family segregating gingival fibromatosis, Xiao et al. (2001) identified a locus for the condition on chromosome 5q13-q22. A maximum 2-point lod score of 4.31 at D5S1721 (theta = 0.00) was observed. Haplotype analysis placed the critical region in the interval defined by D5S1491 and D5S1453. Within this region, calcium/calmodulin-dependent protein kinase IV (CAMK4; 114080) was considered a strong candidate.