GINGF5
MCID: FBR092
MIFTS: 19

Fibromatosis, Gingival, 5 (GINGF5)

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Fibromatosis, Gingival, 5

MalaCards integrated aliases for Fibromatosis, Gingival, 5:

Name: Fibromatosis, Gingival, 5 57 72 29 6
Fibromatosis, Gingival, Hereditary, 5 57 72
Gingf5 57 72
Ggf5 57 72
Hgf5 57 72
Fibromatosis, Gingival, Hereditary, 5; Hgf5 57
Gingival Fibromatosis 5 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in first decade


HPO:

31
fibromatosis, gingival, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080280
OMIM® 57 617626
OMIM Phenotypic Series 57 PS135300
MeSH 44 D005351
SNOMED-CT via HPO 68 109620006 263681008 58569000

Summaries for Fibromatosis, Gingival, 5

OMIM® : 57 Gingival fibromatosis-5 is an autosomal dominant benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues. Affected individuals may have diastema, malposition of the teeth, and prolonged retention of primary teeth. Onset is in the first decade. Treatment by surgical resection is generally followed by regrowth of the gingival tissues (summary by Pehlivan et al., 2009). (617626) (Updated 05-Apr-2021)

MalaCards based summary : Fibromatosis, Gingival, 5, is also known as fibromatosis, gingival, hereditary, 5. An important gene associated with Fibromatosis, Gingival, 5 is REST (RE1 Silencing Transcription Factor). Related phenotypes are abnormal sternum morphology and gingival fibromatosis

Disease Ontology : 12 A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has material basis in heterozygous mutation in the REST gene on chromosome 4q12.

UniProtKB/Swiss-Prot : 72 Fibromatosis, gingival, 5: An autosomal dominant 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.

Related Diseases for Fibromatosis, Gingival, 5

Symptoms & Phenotypes for Fibromatosis, Gingival, 5

Human phenotypes related to Fibromatosis, Gingival, 5:

31
# Description HPO Frequency HPO Source Accession
1 abnormal sternum morphology 31 very rare (1%) HP:0000766
2 gingival fibromatosis 31 HP:0000169

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
gingival fibromatosis

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformities (in some patients)

Clinical features from OMIM®:

617626 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fibromatosis, Gingival, 5

Search Clinical Trials , NIH Clinical Center for Fibromatosis, Gingival, 5

Genetic Tests for Fibromatosis, Gingival, 5

Genetic tests related to Fibromatosis, Gingival, 5:

# Genetic test Affiliating Genes
1 Fibromatosis, Gingival, 5 29 REST

Anatomical Context for Fibromatosis, Gingival, 5

Publications for Fibromatosis, Gingival, 5

Articles related to Fibromatosis, Gingival, 5:

# Title Authors PMID Year
1
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. 57 6
28686854 2017
2
Novel REST Truncation Mutations Causing Hereditary Gingival Fibromatosis. 61
33719663 2021

Variations for Fibromatosis, Gingival, 5

ClinVar genetic disease variations for Fibromatosis, Gingival, 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 REST NM_005612.5(REST):c.2865_2866del (p.Asn958fs) Deletion Pathogenic 427771 rs1553904481 GRCh37: 4:57797889-57797890
GRCh38: 4:56931723-56931724
2 REST NM_005612.5(REST):c.1310T>A (p.Leu437Ter) SNV Pathogenic 427772 rs1553904077 GRCh37: 4:57796334-57796334
GRCh38: 4:56930168-56930168
3 REST NM_005612.5(REST):c.2413del (p.Leu805fs) Deletion Pathogenic 427773 rs1553904346 GRCh37: 4:57797434-57797434
GRCh38: 4:56931268-56931268
4 REST NM_005612.5(REST):c.679C>T (p.Arg227Ter) SNV Pathogenic 1033017 GRCh37: 4:57777483-57777483
GRCh38: 4:56911317-56911317
5 REST NM_005612.5(REST):c.2770C>T (p.Gln924Ter) SNV Likely pathogenic 807670 rs1284461687 GRCh37: 4:57797794-57797794
GRCh38: 4:56931628-56931628
6 REST NM_005612.5(REST):c.238G>A (p.Gly80Arg) SNV Uncertain significance 998295 GRCh37: 4:57777042-57777042
GRCh38: 4:56910876-56910876

Expression for Fibromatosis, Gingival, 5

Search GEO for disease gene expression data for Fibromatosis, Gingival, 5.

Pathways for Fibromatosis, Gingival, 5

GO Terms for Fibromatosis, Gingival, 5

Sources for Fibromatosis, Gingival, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....