MCID: FBR084
MIFTS: 50

Fibromatosis, Gingival, 1

Categories: Genetic diseases, Rare diseases, Oral diseases

Aliases & Classifications for Fibromatosis, Gingival, 1

MalaCards integrated aliases for Fibromatosis, Gingival, 1:

Name: Fibromatosis, Gingival, 1 57 75
Hereditary Gingival Fibromatosis 75 37 29 73
Fibromatosis, Gingival, Hereditary 57 75 55
Gingf1 57 53 75
Ggf1 57 53 75
Gingival Fibromatosis 1 29 6
Gingf 57 75
Hgf 57 75
Fibromatosis, Gingival, Hereditary; Hgf 57
Fibromatosis Gingival, Hereditary, 1 53
Hereditary Gingival Fibromatosis, 1 53
Gingival Fibromatosis, 1 53
Hgf1 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
fibromatosis, gingival, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 135300
MedGen 42 C0399440
MeSH 44 D005351
KEGG 37 H01250

Summaries for Fibromatosis, Gingival, 1

UniProtKB/Swiss-Prot : 75 Fibromatosis, gingival, 1: A form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common.

MalaCards based summary : Fibromatosis, Gingival, 1, also known as hereditary gingival fibromatosis, is related to renal fibrosis and pulmonary fibrosis, idiopathic. An important gene associated with Fibromatosis, Gingival, 1 is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are MAPK signaling pathway and Developmental Biology. The drugs Phenytoin and calcium channel blockers have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related phenotypes are gingival fibromatosis and gingival overgrowth

OMIM : 57 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). (135300)

Related Diseases for Fibromatosis, Gingival, 1

Diseases in the Gingival Fibromatosis family:

Fibromatosis, Gingival, 1 Fibromatosis, Gingival, 2
Fibromatosis, Gingival, 3 Fibromatosis, Gingival, 4
Fibromatosis, Gingival, 5

Diseases related to Fibromatosis, Gingival, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 renal fibrosis 31.2 CD36 TGFB1
2 pulmonary fibrosis, idiopathic 29.1 CD36 MMP1 SERPINH1 TGFB1
3 gingival fibromatosis 26.0 CD36 MMP1 MMP2 SERPINH1 SOS1 TGFB1
4 deafness, autosomal recessive 39 11.7
5 lung cancer 11.5
6 breast cancer 11.4
7 gastric cancer 11.4
8 liver disease 11.4
9 hepatocellular carcinoma 11.4
10 pancreatic cancer 11.4
11 liver cirrhosis 11.3
12 acute liver failure 11.3
13 hepatoblastoma 11.3
14 medulloblastoma 11.2
15 limb ischemia 11.2
16 cholangiocarcinoma 11.2
17 large cell medulloblastoma 11.2
18 renal cell carcinoma, nonpapillary 11.2
19 critical limb ischemia 11.2
20 papillary thyroid microcarcinoma 11.1
21 burns 11.1
22 myeloma, multiple 11.1
23 fibromatosis, gingival, 2 11.0
24 acute kidney failure 11.0
25 short bowel syndrome 11.0
26 biliary atresia 11.0
27 arteriosclerosis 11.0
28 fibromatosis, gingival, 4 10.9
29 vitreoretinopathy, neovascular inflammatory 10.9
30 microvascular complications of diabetes 1 10.9
31 deafness, autosomal recessive 10.9
32 dry eye syndrome 10.9
33 gastric ulcer 10.9
34 acute kidney tubular necrosis 10.9
35 obstructive jaundice 10.9
36 arteriosclerosis obliterans 10.9
37 deafness, autosomal recessive 97 10.8
38 chronic myocardial ischemia 10.8
39 wrinkles 10.8
40 chronic leukemia 10.8
41 bladder squamous cell carcinoma 10.8
42 spinal chordoma 10.8
43 central nervous system melanocytic neoplasm 10.8
44 spindle cell synovial sarcoma 10.8
45 endometrial squamous cell carcinoma 10.8
46 familial renal papillary carcinoma 10.8
47 diffuse meningeal melanocytosis 10.8
48 doxorubicin induced cardiomyopathy 10.8
49 familial progressive hyperpigmentation 10.8
50 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.7

Graphical network of the top 20 diseases related to Fibromatosis, Gingival, 1:



Diseases related to Fibromatosis, Gingival, 1

Symptoms & Phenotypes for Fibromatosis, Gingival, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
gingival fibromatosis (slowly progressive enlargement of gingiva)
normal alveolar bone


Clinical features from OMIM:

135300

Human phenotypes related to Fibromatosis, Gingival, 1:

32
# Description HPO Frequency HPO Source Accession
1 gingival fibromatosis 32 hallmark (90%) HP:0000169
2 gingival overgrowth 32 hallmark (90%) HP:0000212

MGI Mouse Phenotypes related to Fibromatosis, Gingival, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.72 CD36 MMP2 SERPINH1 SOS1 TGFB1
2 craniofacial MP:0005382 9.56 MMP2 SERPINH1 SOS1 TGFB1
3 digestive/alimentary MP:0005381 9.46 CD36 SERPINH1 SOS1 TGFB1
4 muscle MP:0005369 9.26 CD36 MMP2 SOS1 TGFB1
5 skeleton MP:0005390 9.02 CD36 MMP2 SERPINH1 SOS1 TGFB1

Drugs & Therapeutics for Fibromatosis, Gingival, 1

Drugs for Fibromatosis, Gingival, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenytoin Approved, Vet_approved 57-41-0 1775
2 calcium channel blockers
3 Calcium, Dietary
4 Cyclosporins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genes Associated With Hereditary and Drug-Induced Gingival Overgrowth Completed NCT00104026

Search NIH Clinical Center for Fibromatosis, Gingival, 1

Genetic Tests for Fibromatosis, Gingival, 1

Genetic tests related to Fibromatosis, Gingival, 1:

# Genetic test Affiliating Genes
1 Gingival Fibromatosis 1 29 SOS1
2 Hereditary Gingival Fibromatosis 29

Anatomical Context for Fibromatosis, Gingival, 1

MalaCards organs/tissues related to Fibromatosis, Gingival, 1:

41
Bone, Testes

Publications for Fibromatosis, Gingival, 1

Articles related to Fibromatosis, Gingival, 1:

(show top 50) (show all 72)
# Title Authors Year
1
Expression of CD163 in hereditary gingival fibromatosis: A possible association with TGF-I^1. ( 29325232 )
2018
2
Gene expression profiling and bioinformatics analysis of hereditary gingival fibromatosis. ( 29435271 )
2018
3
Hereditary gingival fibromatosis: Characteristics and treatment approach. ( 28469831 )
2017
4
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. ( 28686854 )
2017
5
Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis. ( 28425619 )
2017
6
The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis. ( 28171221 )
2016
7
Hereditary gingival fibromatosis with extreme ridge thickness and insufficient interarch distance: A clinical report of surgical and prosthetic management. ( 26873770 )
2016
8
Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics. ( 27614106 )
2016
9
Ultrastructural evaluation of gingival connective tissue in hereditary gingival fibromatosis. ( 27260277 )
2016
10
Diode Laser Versus Scalpel in the Treatment of Hereditary Gingival Fibromatosis in a 6-Year Old Boy. ( 27994842 )
2016
11
Management of hereditary gingival fibromatosis: A 2 years follow-up case report. ( 26229281 )
2015
12
Hereditary gingival fibromatosis: clinical and ultrastructural features of a new family. ( 25475776 )
2015
13
Hereditary gingival fibromatosis and its management: 2-year follow-up. ( 25395783 )
2014
14
In vitro testing the potential of a novel chimeric IgG variant for inhibiting collagen fibrils formation in recurrent hereditary gingival fibromatosis: chimeric antibody in a gingival model. ( 25179091 )
2014
15
Hereditary gingival fibromatosis. ( 25298717 )
2014
16
Non-syndromic hereditary gingival fibromatosis in three Chinese families is not due to SOS1 gene mutations. ( 25062969 )
2014
17
Complete oral rehabilitation of a patient with hereditary gingival fibromatosis: A clinical report. ( 25277031 )
2014
18
Immunoexpression of I+2-integrin and Hsp47 in hereditary gingival fibromatosis and gingival fibromatosis-associated dental abnormalities. ( 23229240 )
2013
19
Hereditary gingival fibromatosis: a review and a report of a rare case. ( 23533834 )
2013
20
Non-syndromic hereditary gingival fibromatosis. ( 24031070 )
2013
21
Linkage analysis confirms heterogeneity of hereditary gingival fibromatosis. ( 22849749 )
2013
22
The autosomal recessive inheritance of hereditary gingival fibromatosis. ( 24416600 )
2013
23
Amelogenesis imperfecta and generalized gingival overgrowth resembling hereditary gingival fibromatosis in siblings: a case report. ( 23091740 )
2012
24
Gummy smile: could it be genetic? Hereditary gingival fibromatosis. ( 23346694 )
2012
25
Hereditary gingival fibromatosis with distinctive facies. ( 23404022 )
2012
26
Diagnosis and management of nonsyndromic hereditary gingival fibromatosis in a 13 year old girl: Report of a rare case. ( 23230366 )
2012
27
Gummy smile: could it be genetic? Hereditary gingival fibromatosis. ( 22870549 )
2012
28
Hereditary gingival fibromatosis. ( 23492855 )
2012
29
Minichromosome maintenance 2 and 5 expressions are increased in the epithelium of hereditary gingival fibromatosis associated with dental abnormalities. ( 21789376 )
2011
30
Treatment and two-year follow-up of a patient with hereditary gingival fibromatosis. ( 22368369 )
2011
31
Hereditary gingival fibromatosis: a three-generation case and pathogenic mechanism research on progress of the disease. ( 21142979 )
2011
32
Diagnosis and treatment of a hereditary gingival fibromatosis case. ( 22319759 )
2011
33
Hereditary gingival fibromatosis: a report of four cases in the same family. ( 20165741 )
2010
34
Multispeciality approach in the management of patient with hereditary gingival fibromatosis: 1-year followup: a case report. ( 21234408 )
2010
35
Refinement of the GINGF3 locus for hereditary gingival fibromatosis. ( 19633868 )
2010
36
Increased expression of integrin alpha2 and abnormal response to TGF-beta1 in hereditary gingival fibromatosis. ( 19422573 )
2009
37
Hereditary gingival fibromatosis: report of family case series. ( 21650074 )
2009
38
Early onset of hereditary gingival fibromatosis in a 28-month-old. ( 19722435 )
2009
39
Expression of metalloproteinases and their tissue inhibitors in gingiva affected by hereditary gingival fibromatosis: analysis of three cases within a family. ( 19453853 )
2009
40
Further evidence of genetic heterogeneity segregating with hereditary gingival fibromatosis. ( 19552635 )
2009
41
Clinical and histomorphometric characteristics of three different families with hereditary gingival fibromatosis. ( 18061489 )
2008
42
Keratinocytes modify fibroblast metabolism in hereditary gingival fibromatosis. ( 18589399 )
2008
43
Increased expression of collagen prolyl 4-hydroxylases in Chinese patients with hereditary gingival fibromatosis. ( 17825243 )
2007
44
The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years. ( 17395066 )
2007
45
Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis. ( 17510059 )
2007
46
Long-term uncontrolled hereditary gingival fibromatosis: a case report. ( 17211510 )
2007
47
Hereditary gingival fibromatosis: characteristics and novel putative pathogenic mechanisms. ( 17189459 )
2007
48
Hereditary gingival fibromatosis--a review. ( 17385395 )
2007
49
Hereditary gingival fibromatosis: aggressive 2-stage surgical resection in lieu of traditional therapy. ( 17060739 )
2006
50
Hereditary gingival fibromatosis: a systematic review. ( 16671866 )
2006

Variations for Fibromatosis, Gingival, 1

ClinVar genetic disease variations for Fibromatosis, Gingival, 1:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOS1 NM_005633.3(SOS1): c.3248dupC (p.Arg1084Lysfs) duplication Pathogenic rs387906518 GRCh37 Chromosome 2, 39222362: 39222362
2 SOS1 NM_005633.3(SOS1): c.3248dupC (p.Arg1084Lysfs) duplication Pathogenic rs387906518 GRCh38 Chromosome 2, 38995221: 38995221
3 SOS1 NM_005633.3(SOS1): c.797C> A (p.Thr266Lys) single nucleotide variant Pathogenic rs137852812 GRCh37 Chromosome 2, 39278352: 39278352
4 SOS1 NM_005633.3(SOS1): c.797C> A (p.Thr266Lys) single nucleotide variant Pathogenic rs137852812 GRCh38 Chromosome 2, 39051211: 39051211
5 SOS1 NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly) single nucleotide variant Pathogenic rs137852814 GRCh37 Chromosome 2, 39249915: 39249915
6 SOS1 NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly) single nucleotide variant Pathogenic rs137852814 GRCh38 Chromosome 2, 39022774: 39022774
7 SOS1 NM_005633.3(SOS1): c.1656G> T (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 GRCh37 Chromosome 2, 39249913: 39249913
8 SOS1 NM_005633.3(SOS1): c.1656G> T (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 GRCh38 Chromosome 2, 39022772: 39022772
9 REST NM_005612.4(REST): c.1310T> A (p.Leu437Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 4, 57796334: 57796334
10 REST NM_005612.4(REST): c.1310T> A (p.Leu437Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 4, 56930168: 56930168
11 REST NM_005612.4(REST): c.2413delC (p.Leu805Phefs) deletion Likely pathogenic GRCh37 Chromosome 4, 57797437: 57797437
12 REST NM_005612.4(REST): c.2413delC (p.Leu805Phefs) deletion Likely pathogenic GRCh38 Chromosome 4, 56931271: 56931271
13 REST NM_005612.4(REST): c.2865_2866delAA (p.Asn958Serfs) deletion Likely pathogenic GRCh37 Chromosome 4, 57797889: 57797890
14 REST NM_005612.4(REST): c.2865_2866delAA (p.Asn958Serfs) deletion Likely pathogenic GRCh38 Chromosome 4, 56931723: 56931724

Copy number variations for Fibromatosis, Gingival, 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 143753 2 24000000 36600000 Copy number ALK Hereditary gingival fibromatosis
2 143754 2 24000000 36600000 Copy number C2orf18 Hereditary gingival fibromatosis

Expression for Fibromatosis, Gingival, 1

Search GEO for disease gene expression data for Fibromatosis, Gingival, 1.

Pathways for Fibromatosis, Gingival, 1

Pathways related to Fibromatosis, Gingival, 1 according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

Pathways related to Fibromatosis, Gingival, 1 according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 CD36 MMP2 SOS1 TGFB1
2
Show member pathways
12.98 CD36 MMP1 SOS1 TGFB1
3
Show member pathways
12.97 CD36 MMP1 MMP2 SOS1 TGFB1
4
Show member pathways
12.83 CD36 MMP1 MMP2 SOS1 TGFB1
5
Show member pathways
12.71 MMP1 MMP2 SOS1 TGFB1
6 12.39 MMP1 MMP2 SOS1 TGFB1
7
Show member pathways
12.25 MMP2 SOS1 TGFB1
8
Show member pathways
12.21 MMP1 MMP2 SERPINH1 TGFB1
9 11.99 MMP2 SOS1 TGFB1
10
Show member pathways
11.92 MMP1 SOS1 TGFB1
11
Show member pathways
11.8 MMP2 SOS1 TGFB1
12 11.7 MMP1 SOS1 TGFB1
13 11.66 MMP2 TGFB1
14
Show member pathways
11.65 MMP1 MMP2
15 11.64 SOS1 TGFB1
16 11.6 MMP1 TGFB1
17 11.6 MMP2 TGFB1
18 11.51 MMP1 MMP2
19 11.49 SOS1 TGFB1
20 11.49 CD36 MMP1
21 11.47 MMP1 MMP2 SOS1 TGFB1
22 11.44 SERPINH1 TGFB1
23 11.42 MMP2 TGFB1
24
Show member pathways
11.42 MMP1 MMP2
25 11.4 MMP1 MMP2
26 11.31 SOS1 TGFB1
27 11.28 CD36 TGFB1
28 11.11 MMP1 MMP2
29 11.09 MMP2 TGFB1
30 11.06 CD36 MMP2
31 11.04 MMP1 SOS1 TGFB1
32 10.98 CD36 MMP1 MMP2 TGFB1
33 10.96 MMP2 SOS1
34 10.85 MMP1 MMP2
35 10.71 MMP1 TGFB1

GO Terms for Fibromatosis, Gingival, 1

Cellular components related to Fibromatosis, Gingival, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 8.96 CD36 SERPINH1
2 extracellular matrix GO:0031012 8.8 MMP1 MMP2 TGFB1

Biological processes related to Fibromatosis, Gingival, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.4 CD36 TGFB1
2 extracellular matrix disassembly GO:0022617 9.37 MMP1 MMP2
3 collagen catabolic process GO:0030574 9.32 MMP1 MMP2
4 epidermal growth factor receptor signaling pathway GO:0007173 9.26 SOS1 TGFB1
5 face morphogenesis GO:0060325 9.16 MMP2 TGFB1
6 leukocyte migration GO:0050900 9.13 MMP1 SOS1 TGFB1
7 cytokine-mediated signaling pathway GO:0019221 9.02 CD36 MMP1 MMP2 SOS1 TGFB1

Sources for Fibromatosis, Gingival, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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