MCID: FLR003
MIFTS: 33

Florid Cemento-Osseous Dysplasia malady

Genetic diseases, Rare diseases, Oral diseases, Cardiovascular diseases categories

Summaries for Florid Cemento-Osseous Dysplasia

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NIH Rare Diseases:41 Florid cemento-osseous dysplasia is characterized by lesions in the upper and/or lower jaw that occur when normal bone is replaced with a mix of connective tissue and abnormal bone. it tends to affect middle aged women, particularly women of african american and asian descent. the lesions often affect both sides of the jaw and are symmetrical. the number, size, and shape of the lesions vary. occasionally the lesions expand and may cause discomfort, pain, or mild disfigurement. the radiographic appearance of the lesions are important for diagnosis. last updated: 6/22/2010

MalaCards based summary: Florid Cemento-Osseous Dysplasia, also known as focal cemento-osseous dysplasia, is related to osteomyelitis and microphthalmia, and has symptoms including autosomal dominant inheritance, misalignment of teeth and multiple impacted teeth. An important gene associated with Florid Cemento-Osseous Dysplasia is BCOR (BCL6 corepressor). Affiliated tissues include heart, bone and eye.

Genetics Home Reference:21 Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.

Aliases & Classifications for Florid Cemento-Osseous Dysplasia

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Sources:
41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Florid Cemento-Osseous Dysplasia, Aliases & Descriptions:

Name: Florid Cemento-Osseous Dysplasia 41 47 60
Focal Cemento-Osseous Dysplasia 41 47 60
Oculofaciocardiodental Syndrome 41 21 22
Ofcd Syndrome 41 21 43
Syndromic Microphthalmia Type 2 41 20
Microphthalmia, Syndromic 2 21 60
Florid Osseous Dysplasia 41 47
Mcops2 41 21
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects 21
 
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects 41
Cataract - Microphthalmia - Radiculomegaly - Septal Heart Defect 41
Oculo-Facio-Cardio-Dental Syndrome 21
Gigantiform Cementoma, Familial 60
Microphthalmia Syndromic 2 41
Anop2 41
Fcod 41
Maa2 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
florid cemento-osseous dysplasia:
Inheritance: Not applicable; Age of onset: Adult; Age of death: normal life expectancy


External Ids:

Orphanet47 83451
ICD10 via Orphanet26 D16.5, D16.4
UMLS via Orphanet61 C0555197
MESH via Orphanet34 C537063

Related Diseases for Florid Cemento-Osseous Dysplasia

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Diseases related to Florid Cemento-Osseous Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1osteomyelitis10.6
2microphthalmia10.5
3solitary bone cyst10.5
4ossifying fibroma10.5
5fibroma10.5
6periodontitis10.5
7periapical granuloma10.4
8microphthalmia, syndromic 210.4
9cellulitis10.3
10microphthalmia, syndromic 110.1

Graphical network of diseases related to Florid Cemento-Osseous Dysplasia:



Diseases related to florid cemento-osseous dysplasia

Symptoms for Florid Cemento-Osseous Dysplasia

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HPO human phenotypes related to Florid Cemento-Osseous Dysplasia:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 misalignment of teeth HP:0000692
3 multiple impacted teeth HP:0001571
4 cementoma HP:0012328

Drugs & Therapeutics for Florid Cemento-Osseous Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Florid Cemento-Osseous Dysplasia

Search NIH Clinical Center for Florid Cemento-Osseous Dysplasia

Genetic Tests for Florid Cemento-Osseous Dysplasia

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Genetic tests related to Florid Cemento-Osseous Dysplasia:

id Genetic test Affiliating Genes
1 Syndromic Microphthalmia 220 BCOR
2 Oculofaciocardiodental Syndrome22

Anatomical Context for Florid Cemento-Osseous Dysplasia

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MalaCards organs/tissues related to Florid Cemento-Osseous Dysplasia:

31
Heart, Bone, Eye

Animal Models for Florid Cemento-Osseous Dysplasia or affiliated genes

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Publications for Florid Cemento-Osseous Dysplasia

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Articles related to Florid Cemento-Osseous Dysplasia:

(show all 50)
idTitleAuthorsYear
1
Oral Pathology Quiz #82. Case number 4. Florid cemento-osseous dysplasia. (24812728)
2014
2
Case presentation of florid cemento-osseous dysplasia with concomitant cemento-ossifying fibroma discovered during implant explantation. (22858018)
2013
3
Misdiagnosis of florid cemento-osseous dysplasia leading to unnecessary root canal treatment: a case report. (24010083)
2013
4
Florid cemento-osseous dysplasia: Report of a case documented with clinical, radiographic, biochemical and histological findings. (24455053)
2013
5
Radiological findings of florid cemento-osseous dysplasia and benign mucosal cyst in an elderly woman with no symptoms. (23709149)
2013
6
Florid cemento-osseous dysplasia mimicking apical periodontitis: A case report. (24279668)
2013
7
Findings of florid cemento-osseous dysplasia: a report of three cases. (24478914)
2013
8
Oral Pathology Quiz #78. Case number 4. Florid cemento-osseous dysplasia. (23556290)
2013
9
Florid cemento-osseous dysplasia. (23798858)
2013
10
Severe florid cemento-osseous dysplasia: a case report treated conservatively and literature review. (22249882)
2013
11
Multifocal radiolucencies with radiopacities. Florid cemento-osseous dysplasia. (23032232)
2012
12
Familial florid cemento-osseous dysplasia: a rare manifestation in an Indian family. (23198165)
2012
13
Dento-osseous anomalies associated to familial adenomatous polyposis mimicking florid cemento-osseous dysplasia. (22513049)
2012
14
Co-occurence of florid cemento-osseous dysplasia and simple bone cyst: a case report. (24421997)
2011
15
Mandibular Actinomyces osteomyelitis complicating florid cemento-osseous dysplasia: case report. (21777471)
2011
16
Florid cemento-osseous dysplasia and a dental abscess. (22187807)
2011
17
Clinical, radiographic, and histological findings of florid cemento-osseous dysplasia: a case report. (22010072)
2011
18
Florid cemento-osseous dysplasia: a report of two cases seen at the university college hospital ibadan. (25161487)
2011
19
Clinico-pathologic conference: case 1. High-grade osteosarcoma (OS) and florid cemento-osseous dysplasia (FCOD). (21076948)
2010
20
Florid cemento osseous dysplasia in association with dentigerous cyst. (21731265)
2010
21
Oral pathology. Florid cemento-osseous dysplasia. (21207924)
2010
22
Florid cemento-osseous dysplasia: a case report. (20069261)
2009
23
Oral pathology case #60. Case number 4. Florid cemento-osseous dysplasia. (18924275)
2008
24
Florid cemento-osseous dysplasia: a report of three cases. (18348379)
2008
25
Florid cemento-osseous dysplasia mimicking multiple periapical pathology--an endodontic dilemma. (18810917)
2008
26
Florid cemento-osseous dysplasia: a case report. (17767096)
2007
27
Florid cemento-osseous dysplasia: Review and report of two cases. (17176830)
2006
28
Surgical management of an infected aggressive florid cemento-osseous dysplasia. Report of a case. (17146430)
2006
29
Oral pathology quiz #49. Case number 1. Florid cemento-osseous dysplasia. (16433301)
2005
30
Florid cemento-osseous dysplasia in a young Indian woman. A case report. (15849576)
2005
31
Florid cemento-osseous dysplasia. (16454327)
2005
32
Clinical, radiographic, biochemical and histological findings of florid cemento-osseous dysplasia and report of a case. (16429193)
2005
33
Florid cemento-osseous dysplasia and chronic diffuse osteomyelitis Report of a simultaneous presentation and review of the literature. (16060474)
2005
34
Treatment of a maxillary molar in a patient presenting with florid cemento-osseous dysplasia: a case report. (15329574)
2004
35
Florid cemento-osseous dysplasia: a systematic review. (12917278)
2003
36
Florid cemento-osseous dysplasia. Report of a case in a white woman with both mandibular and maxillary involvement. (14765025)
2003
37
Surgical and prosthodontic rehabilitation for a patient with aggressive florid cemento-osseous dysplasia: a clinical report. (12942053)
2003
38
Management of florid cemento-osseous dysplasia of the mandible producing solitary bone cyst: report of a case. (12089703)
2002
39
Oral pathology quiz. Case 2. Florid cemento-osseous dysplasia. (11484594)
2001
40
Multifocal mixed radiolucencies. Florid cemento-osseous dysplasia. (12017787)
2001
41
Familial florid cemento-osseous dysplasia: a case report. (11117698)
2000
42
Florid cemento-osseous dysplasia. Report of a case. (10065652)
1999
43
Diagnostic quiz #33. Case no. 1. Florid cemento-osseous dysplasia. (14685980)
1999
44
Florid cemento-osseous dysplasia: Report of a case documented with computed tomography and 3D imaging. (9638705)
1998
45
Case 6. Florid cemento-osseous dysplasia. (10825909)
1998
46
Florid cemento-osseous dysplasia in a young Chinese man. Case report. (9470284)
1997
47
Familial florid cemento-osseous dysplasia--a case report and review of the literature. (9462035)
1996
48
Florid cemento-osseous dysplasia with concomitant simple bone cysts: a case in a Japanese woman. (7562667)
1995
49
Florid cemento-osseous dysplasia. Radiographic study with special emphasis on computed tomography. (7970604)
1994
50
Florid cemento-osseous dysplasia (gigantiform cementoma) in a Caucasian woman. (2920163)
1989

Variations for Florid Cemento-Osseous Dysplasia

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Clinvar genetic disease variations for Florid Cemento-Osseous Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1BCORNM_001123384.1(BCOR): c.254C> T (p.Pro85Leu)single nucleotide variantPathogenicrs121434618GRCh37Chr X, 39934345: 39934345
2BCORNM_001123384.1(BCOR): c.2926C> T (p.Arg976Ter)single nucleotide variantPathogenicrs121434619GRCh37Chr X, 39931673: 39931673

Expression for genes affiliated with Florid Cemento-Osseous Dysplasia

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Search GEO for disease gene expression data for Florid Cemento-Osseous Dysplasia.

Pathways for genes affiliated with Florid Cemento-Osseous Dysplasia

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Compounds for genes affiliated with Florid Cemento-Osseous Dysplasia

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GO Terms for genes affiliated with Florid Cemento-Osseous Dysplasia

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Products for genes affiliated with Florid Cemento-Osseous Dysplasia

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Sources for Florid Cemento-Osseous Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet