MCID: OST032
MIFTS: 39

Osteofibrous Dysplasia malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Osteofibrous Dysplasia

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Aliases & Descriptions for Osteofibrous Dysplasia:

Name: Osteofibrous Dysplasia 46 68 48 66
Jaffe-Campanacci Syndrome 46 66
Ossifying Fibroma 46 66
Bowing of Tibia with Pseudarthrosis and Pectus Excavatum 68
 
Intracortical Fibrous Dysplasia 46
Osfd 68
Ofd 68

Classifications:



External Ids:

MedGen35 C1709353
MeSH37 D001848

Summaries for Osteofibrous Dysplasia

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UniProtKB/Swiss-Prot:68 Osteofibrous dysplasia: A congenital disorder of osteogenesis characterized by non-neoplastic, radiolucent lesions that affect the cortical bone immediately under the periosteum. It usually manifests as a painless swelling or anterior bowing of the long bones, most commonly the tibia and fibula.

MalaCards based summary: Osteofibrous Dysplasia, also known as jaffe-campanacci syndrome, is related to fibromatosis multiple non ossifying and orofaciodigital syndrome. An important gene associated with Osteofibrous Dysplasia is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways are FGF signaling pathway and Syndecan-1-mediated signaling events. Affiliated tissues include bone, and related mouse phenotypes are neoplasm and limbs/digits/tail.

Wikipedia:69 Osteofibrous dysplasia (also known as ossifying fibroma) is a rare, benign non-neoplastic condition with... more...

Related Diseases for Osteofibrous Dysplasia

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Diseases related to Osteofibrous Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1fibromatosis multiple non ossifying11.6
2orofaciodigital syndrome11.4
3orofaciodigital syndrome i11.4
4mohr syndrome11.4
5orofaciodigital syndrome iv11.3
6orofaciodigital syndrome v11.0
7orofaciodigital syndrome ix11.0
8orofaciodigital syndrome xi11.0
9orofaciodigital syndrome viii11.0
10orofaciodigital syndrome iii11.0
11orofaciodigital syndrome x11.0
12orofaciodigital syndrome 1311.0
13orofaciodigital syndrome vi10.8
14polydactyly cleft lip palate psychomotor retardation10.8
15orofaciodigital syndrome 1210.8
16pseudoglandular variant testicular seminoma10.6MUC1, NF1
17bone lymphoma10.6NF1, SPARC
18penis papillary carcinoma10.6BGLAP, SPP1
19breast capillary hemangioma10.6BGLAP, SPARC
20pancreatic delta cell neoplasm10.5NF1, VIM
21sm-ahnmd10.5MET, VIM
22mental retardation, autosomal recessive 3510.5BGLAP, CD36
23idiopathic subglottic tracheal stenosis10.5SPP1, VIM
242q33.1 microdeletion syndrome10.5MUC1, VIM
25anaplastic oligoastrocytoma10.4MUC1, VIM
26distal monosomy 7q3610.4MUC1, VIM
27clear cell adenoma10.4KRT5, MUC1
28lymphangiosarcoma10.4MUC1, VIM
29transitional meningioma10.4MUC1, VIM
30chondroblastoma10.4MUC1, VIM
31lacrimal gland mucoepidermoid carcinoma10.4KRT5, MUC1
32monophasic synovial sarcoma10.4MUC1, VIM
33pediculus humanus capitis infestation10.4MUC1, VIM
34lumbar plexus neoplasm10.4MUC1, VIM
35blastomycosis10.4BMP2, SPARC
36congenital structural myopathy10.4MUC1, VIM
37subependymal giant cell astrocytoma10.4MUC1, VIM
38skin sarcoma10.4MUC1, VIM
39rete testis neoplasm10.4KRT5, MET
40extracranial neuroblastoma10.4MUC1, VIM
41pineoblastoma10.4MUC1, VIM
42bartholin's gland benign neoplasm10.4MUC1, VIM
43papillary adenocarcinoma10.4BGLAP, SPARC, SPP1
44eccrine papillary adenoma10.4MUC1, VIM
45sclerosing liposarcoma10.4MUC1, VIM
46nail disorder, nonsyndromic congenital, 110.4BGLAP, SPARC, SPP1
47mesothelioma, somatic10.4MET, MUC1, SPP1
48gallbladder adenoma10.4MUC1, VIM
49syringoma10.4MUC1, VIM
50skin glomangioma10.4MUC1, VIM

Graphical network of the top 20 diseases related to Osteofibrous Dysplasia:



Diseases related to osteofibrous dysplasia

Symptoms for Osteofibrous Dysplasia

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Drugs & Therapeutics for Osteofibrous Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Osteofibrous Dysplasia

Genetic Tests for Osteofibrous Dysplasia

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Anatomical Context for Osteofibrous Dysplasia

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MalaCards organs/tissues related to Osteofibrous Dysplasia:

34
Bone

Animal Models for Osteofibrous Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Osteofibrous Dysplasia:

39 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8MET, NF1, SPARC, SPP1, TGFB1
2MP:00053718.5BMP2, KRT5, MET, NF1, SPARC
3MP:00107718.3KRT1, KRT5, NF1, SPARC, SPP1, TGFB1
4MP:00053698.2CD36, MET, NF1, SPP1, TGFB1, VIM
5MP:00053917.9CD36, MET, NF1, SPARC, TGFB1, VIM
6MP:00053817.8BMP2, CD36, KRT5, MET, NF1, TGFB1
7MP:00053827.8BMP2, KRT5, MET, NF1, SPARC, SPP1
8MP:00053977.1BMP2, CD36, KRT1, NF1, SPARC, SPP1
9MP:00053866.9CD36, KRT5, MET, NF1, SPARC, SPP1
10MP:00036316.9BMP2, CD36, KRT1, MET, NF1, SPP1
11MP:00053876.9BMP2, CD36, KRT1, MET, NF1, SPARC
12MP:00053856.9BMP2, CD36, KRT1, MET, NF1, SPP1
13MP:00053786.5BMP2, CD36, KRT1, KRT5, MET, NF1
14MP:00107686.5BMP2, CD36, KRT1, KRT5, MET, NF1
15MP:00053766.2BMP2, CD36, KRT1, MET, NF1, SPARC

Publications for Osteofibrous Dysplasia

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Articles related to Osteofibrous Dysplasia:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
Osteofibrous dysplasia of clavicle clinically mimicking chronic osteomyelitis. (27413281)
2016
2
Autologous mesenchymal stem cell (MSCs) transplantation for critical-sized bone defect following a wide excision of osteofibrous dysplasia. (26599503)
2015
3
Osteofibrous dysplasia-like adamantinoma in a 3-month-old male infant: a case report. (26012944)
2015
4
Imaging in osteofibrous dysplasia, osteofibrous dysplasia-like adamantinoma, and classic adamantinoma. (24199850)
2014
5
Neonatal osteofibrous dysplasia associated with pathological tibia fracture: a case report and review of the literature. (21383639)
2012
6
Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones. (21983933)
2012
7
Podoplanin expression in adamantinoma of long bones and osteofibrous dysplasia. (21499851)
2011
8
Osteofibrous dysplasia: A case report and review of the literature. (27307931)
2011
9
Osteofibrous dysplasia and adamantinoma. (20511441)
2010
10
Minimally invasive plate osteosynthesis for osteofibrous dysplasia of the tibia: a case report. (21187556)
2010
11
Osteofibrous dysplasia and adamantinoma in children and adolescents: a clinicopathologic reappraisal. (18300815)
2008
12
Osteofibrous dysplasia, osteofibrous dysplasia-like adamantinoma and adamantinoma: correlation of radiological imaging features with surgical histology and assessment of the use of radiology in contributing to needle biopsy diagnosis. (18690429)
2008
13
Congenital osteofibrous dysplasia of the tibia, associated with pseudoarthrosis of the ipsilateral fibula. (18946584)
2008
14
Treatment of osteofibrous dysplasia and associated lesions. (17594160)
2007
15
Osteofibrous dysplasia of the tibia. (17259434)
2007
16
A classic adamantinoma arising from osteofibrous dysplasia-like adamantinoma in the lower leg: a case report and review of the literature. (16636523)
2006
17
Osteofibrous dysplasia of the tibia. Is there a need for a radical surgical approach? (16645116)
2006
18
Familial osteofibrous dysplasia. A case series. (16203897)
2005
19
Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia. (15258702)
2004
20
Osteofibrous dysplasia treated with distraction osteogenesis: a report of two cases. (15449128)
2004
21
Osteofibrous dysplasia and adamantinoma: correlation of proto-oncogene product and matrix protein expression. (14745727)
2004
22
Classic adamantinoma with osteofibrous dysplasia-like foci and secondary aneurysmal bone cyst. (12574919)
2003
23
CD99 positive adamantinoma of the ulna with ipsilateral discrete osteofibrous dysplasia. (12616068)
2003
24
Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma. (12679847)
2003
25
Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement. (12239726)
2002
26
Comparative study of fibrous dysplasia and osteofibrous dysplasia: histopathological, immunohistochemical, argyrophilic nucleolar organizer region and DNA ploidy analysis. (11564214)
2001
27
Immunoexpression of neurofibromin, S-100 protein, and leu-7 and mutation analysis of the NF1 gene at codon 1423 in osteofibrous dysplasia. (11727265)
2001
28
Osteofibrous dysplasia of the ulna. (11793188)
2001
29
A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to Gsalpha mutation at the Arg201 codon: polymerase chain reaction-restriction fragment length polymorphism analysis of paraffin-embedded tissues. (11272890)
2000
30
Expression of cytokeratin 1, 5, 14, 19 and transforming growth factors-beta1, beta2, beta3 in osteofibrous dysplasia and adamantinoma: A possible association of transforming growth factor-beta with basal cell phenotype promotion. (11107052)
2000
31
Treatment outcome of osteofibrous dysplasia. (9702669)
1998
32
Bilateral osteofibrous dysplasia: a report of two cases and review of the literature. (9234973)
1997
33
Cytogenetic analysis of adamantinoma of long bones: further indications for a common histogenesis with osteofibrous dysplasia. (9242211)
1997
34
Neonatal osteofibrous dysplasia: report of two cases. (8677152)
1996
35
Composition and posttranslational modification of individual collagen chains from osteosarcomas and osteofibrous dysplasias. (7635871)
1995
36
Clonal chromosomal abnormalities in osteofibrous dysplasia. Implications for histopathogenesis and its relationship with adamantinoma. (8156503)
1994
37
Osteofibrous dysplasia: clinicopathologic study of 80 cases. (8276381)
1993
38
Answer please. Osteofibrous dysplasia. (8290405)
1993
39
Aggressive bone tumorous lesion in infancy: osteofibrous dysplasia of the tibia and fibula. (8376555)
1993
40
Osteofibrous dysplasia of the tibia treated by bracing. (1428320)
1992
41
Osteofibrous dysplasia of long bones--a reactive process to adamantinomatous tissue. (1370955)
1992
42
Cortical osteofibrous dysplasia of long bone and its relationship to adamantinoma. A clinicopathologic study of 30 cases. (1599019)
1992
43
Osteofibrous dysplasia (ossifying fibroma of long bones). A report of four cases and review of the literature. (1563159)
1992
44
Congenital ossifying fibroma (osteofibrous dysplasia) of the tibia--a case report. (1749686)
1991
45
Juvenile intracortical adamantinoma of the tibia with predominant osteofibrous dysplasia-like features. (1724319)
1991
46
MRI findings in osteofibrous dysplasia. (2607907)
1989
47
Osteofibrous dysplasia. A report of two cases. (3201274)
1988
48
Radiologic case study. Osteofibrous dysplasia. (3615297)
1987
49
Osteofibrous dysplasia of the tibia and fibula. (7204433)
1981
50
Osteofibrous dysplasia of long bones a new clinical entity. (1024109)
1976

Variations for Osteofibrous Dysplasia

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Expression for genes affiliated with Osteofibrous Dysplasia

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Search GEO for disease gene expression data for Osteofibrous Dysplasia.

Pathways for genes affiliated with Osteofibrous Dysplasia

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GO Terms for genes affiliated with Osteofibrous Dysplasia

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Cellular components related to Osteofibrous Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule membraneGO:003109210.3CD36, SPARC
2membrane-bounded vesicleGO:003198810.2BGLAP, SPARC, SPP1
3Golgi lumenGO:00057969.3BGLAP, MUC1, TGFB1
4cell projectionGO:00429959.3BGLAP, SPP1, VIM
5cell surfaceGO:00099868.1BMP2, CD36, MET, SPARC, TGFB1
6extracellular regionGO:00055767.7BGLAP, BMP2, MET, SPARC, SPP1, TGFB1
7extracellular spaceGO:00056156.5BGLAP, BMP2, CD36, KRT1, MUC1, SPARC

Biological processes related to Osteofibrous Dysplasia according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of endothelial cell proliferationGO:000193710.4NF1, SPARC
2response to gravityGO:000962910.4BGLAP, SPARC
3negative regulation of transcription factor import into nucleusGO:004299210.3CD36, NF1
4regulation of bone resorptionGO:004512410.3BGLAP, NF1
5regulation of angiogenesisGO:004576510.1KRT1, NF1
6negative regulation of neuroblast proliferationGO:00074069.8NF1, TGFB1
7pathway-restricted SMAD protein phosphorylationGO:00603899.6BMP2, TGFB1
8positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:19028959.6BMP2, TGFB1
9positive regulation of odontogenesisGO:00424829.6BMP2, TGFB1
10platelet degranulationGO:00025769.3CD36, SPARC, TGFB1
11response to vitamin DGO:00332809.1BGLAP, SPP1, TGFB1
12wound healingGO:00420609.1NF1, SPARC, TGFB1
13SMAD protein signal transductionGO:00603959.0BMP2, TGFB1, VIM
14osteoblast differentiationGO:00016499.0BGLAP, BMP2, NF1, SPP1
15inner ear developmentGO:00488398.9BMP2, SPARC, TGFB1
16negative regulation of gene expressionGO:00106298.7BMP2, CD36, TGFB1
17cellular response to growth factor stimulusGO:00713638.6BGLAP, BMP2, SPARC, TGFB1
18response to hypoxiaGO:00016668.1BMP2, MUC1, NF1, TGFB1

Molecular functions related to Osteofibrous Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.9SPARC, SPP1
2cytokine activityGO:00051258.6BMP2, SPP1, TGFB1

Sources for Osteofibrous Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet