FGC
MCID: GGN006
MIFTS: 21

Gigantiform Cementoma, Familial (FGC)

Categories: Bone diseases, Genetic diseases, Mental diseases, Rare diseases
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Aliases & Classifications for Gigantiform Cementoma, Familial

MalaCards integrated aliases for Gigantiform Cementoma, Familial:

Name: Gigantiform Cementoma, Familial 57
Cemental Dysplasia, Periapical 57
Cementomas, Familial Multiple 57
Familial Ossifying Fibroma 58
Multiple Ossifying Fibroma 58
Fgc 57

Characteristics:


Inheritance:

Gigantiform Cementoma, Familial: Autosomal dominant 57
Familial Ossifying Fibroma: Autosomal dominant 58

Age Of Onset:

Familial Ossifying Fibroma: Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in adolescence in most patients


Classifications:

Orphanet: 58  
Rare bone diseases


External Ids:

OMIM® 57 137575
ICD10 via Orphanet 32 D16.4
Orphanet 58 ORPHA435329
MedGen 40 C3495361
SNOMED-CT via HPO 69 23255001 37258009

Summaries for Gigantiform Cementoma, Familial

OMIM®: 57 Familial gigantiform cementoma (FGC) is a rare autosomal dominant tumor that is benign but can result in disfigurement of the facial skeleton. Onset of symptoms usually occurs in adolescence, with rapid growth causing expansion of the maxilla and mandible, resulting in significant facial deformity and malocclusion. Radiologic examination defines 3 stages of the lesions: osteolytic, with well-defined radiolucent areas; cementoblastic, in which cementum is formed within the fibrous tissue, represented by radiopacities within the radiolucent zones; and mature, in which the fibrous tissue is almost completely replaced by cementum, represented by a large radioopaque area surrounded by a radiolucent space separating the tumor from normal bone. Histologic examination shows confluent sclerotic avascular cementum, with distinct areas of lamellar bone in some cases. Examination under polarized light reveals a varied birefringent pattern typical of cementum (summary by Finical et al., 1999). Affected individuals may develop osteopenia and sustain long bone fractures after minor trauma (Moshref et al., 2008; Wang et al., 2015). (137575) (Updated 08-Dec-2022)

MalaCards based summary: Gigantiform Cementoma, Familial, also known as cemental dysplasia, periapical, is related to florid cemento-osseous dysplasia and prostate cancer. Affiliated tissues include bone, and related phenotypes are multiple impacted teeth and tooth malposition

Orphanet: 58 A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.

Related Diseases for Gigantiform Cementoma, Familial

Diseases related to Gigantiform Cementoma, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 florid cemento-osseous dysplasia 11.4
2 prostate cancer 10.2
3 hypoadrenocorticism, familial 10.1
4 prostate cancer, hereditary, 8 10.1
5 prostate cancer, hereditary, 6 10.1
6 premature ovarian failure 7 10.1
7 helix syndrome 10.1
8 endometritis 10.1
9 ovarian disease 10.1
10 coccidioidomycosis 10.1
11 nondisjunction 9.9
12 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.9
13 prostatic hyperplasia, benign 9.9
14 alcohol use disorder 9.9
15 thyroid hyalinizing trabecular adenoma 9.9
16 children's interstitial lung disease 9.9

Graphical network of the top 20 diseases related to Gigantiform Cementoma, Familial:



Diseases related to Gigantiform Cementoma, Familial

Symptoms & Phenotypes for Gigantiform Cementoma, Familial

Human phenotypes related to Gigantiform Cementoma, Familial:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple impacted teeth 30 HP:0001571
2 tooth malposition 30 HP:0000692
3 cementoma 30 HP:0012328

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal:
osteopenia

Head And Neck Mouth:
malocclusion

Skeletal Skull:
expansion of maxilla
expansion of mandible
gigantiform cementoma
diffuse radiopaque masses scattered throughout the jaw

Laboratory Abnormalities:
elevated alkaline phosphatase

Head And Neck Face:
expansion of maxilla
expansion of mandible

Skeletal Limbs:
long bone fractures after minor trauma

Clinical features from OMIM®:

137575 (Updated 08-Dec-2022)

Drugs & Therapeutics for Gigantiform Cementoma, Familial

Search Clinical Trials, NIH Clinical Center for Gigantiform Cementoma, Familial

Genetic Tests for Gigantiform Cementoma, Familial

Anatomical Context for Gigantiform Cementoma, Familial

Organs/tissues related to Gigantiform Cementoma, Familial:

MalaCards : Bone

Publications for Gigantiform Cementoma, Familial

Articles related to Gigantiform Cementoma, Familial:

# Title Authors PMID Year
1
Familial Gigantiform Cementoma: Case Report of an Unusual Clinical Manifestation and Possible Mechanism Related To "Calcium Steal Disorder". 57
26945411 2016
2
Familial gigantiform cementoma: distinctive clinical features of a large Chinese pedigree. 57
25284619 2015
3
Autosomal dominant gigantiform cementoma associated with bone fractures. 57
18247420 2008
4
Familial gigantiform cementoma. 57
10077086 1999
5
Familial occurrence of periapical cemental dysplasia. 57
8236819 1993
6
Familial gigantiform cementoma: classification and presentation of a large pedigree. 57
2594322 1989
7
Gigantiform cementoma: report of two cases (mother and son). 57
6927901 1980
8
Florid osseous dysplasia. A clinical-pathologic study of thirty-four cases. 57
1061039 1976
9
Two cases of multiple ossifying fibromas in the jaws. 62
24678936 2014
10
Multiple familial ossifying fibromas: relationship to other osseous lesions of the jaws. 62
2594324 1989

Variations for Gigantiform Cementoma, Familial

Expression for Gigantiform Cementoma, Familial

Search GEO for disease gene expression data for Gigantiform Cementoma, Familial.

Pathways for Gigantiform Cementoma, Familial

GO Terms for Gigantiform Cementoma, Familial

Sources for Gigantiform Cementoma, Familial

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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