MCID: FBR092
MIFTS: 15

Fibromatosis, Gingival, 5

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 75 6
Fibromatosis, Gingival, Hereditary, 5 57 75
Gingf5 57 75
Ggf5 57 75
Hgf5 57 75
Fibromatosis, Gingival, Hereditary, 5; Hgf5 57
Gingival Fibromatosis 5 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first decade


Classifications:



External Ids:

OMIM 57 617626
Disease Ontology 12 DOID:0080280
MeSH 44 D005351

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)

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).

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
gingival fibromatosis

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


Clinical features from OMIM:

617626

Drugs & Therapeutics for Fibromatosis, Gingival, 5

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

Genetic Tests for Fibromatosis, Gingival, 5

Anatomical Context for Fibromatosis, Gingival, 5

Publications for Fibromatosis, Gingival, 5

Variations for Fibromatosis, Gingival, 5

ClinVar genetic disease variations for Fibromatosis, Gingival, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 REST NM_005612.4(REST): c.1310T> A (p.Leu437Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 4, 57796334: 57796334
2 REST NM_005612.4(REST): c.1310T> A (p.Leu437Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 4, 56930168: 56930168
3 REST NM_005612.4(REST): c.2413delC (p.Leu805Phefs) deletion Likely pathogenic GRCh37 Chromosome 4, 57797437: 57797437
4 REST NM_005612.4(REST): c.2413delC (p.Leu805Phefs) deletion Likely pathogenic GRCh38 Chromosome 4, 56931271: 56931271
5 REST NM_005612.4(REST): c.2865_2866delAA (p.Asn958Serfs) deletion Likely pathogenic GRCh37 Chromosome 4, 57797889: 57797890
6 REST NM_005612.4(REST): c.2865_2866delAA (p.Asn958Serfs) deletion Likely pathogenic GRCh38 Chromosome 4, 56931723: 56931724

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 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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