MCID: OST032
MIFTS: 38

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 48 70 50 68
Jaffe-Campanacci Syndrome 48 68
Ossifying Fibroma 48 68
Bowing of Tibia with Pseudarthrosis and Pectus Excavatum 70
 
Intracortical Fibrous Dysplasia 48
Osfd 70
Ofd 70

Classifications:



External Ids:

MedGen37 C1709353
MeSH39 D001848

Summaries for Osteofibrous Dysplasia

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NIH Rare Diseases:48 Osteofibrous dysplasia is a rare, non-cancerous (benign) tumor that affects the long bones. It usually develops in children and adolescents. The most common location is the middle part of the tibia (shin), although the fibula (a smaller bone in the calf) and the long bones in the arm (humerus, radius, or ulna) may also be affected. In many cases, there are no symptoms and the condition is discovered when an x-ray is done for another reason (incidental finding). When symptoms are present, they most often include swelling and/or pain at the site of the tumor, a break in the bone (fracture) where it is weakened by the tumor, and/or bowing of the leg. The cause of osteofibrous dysplasia is unknown. Treatment is usually conservative, involving observation until the bone stops growing (skeletal maturity). Bracing may help prevent bowing of the limb and fractures. Surgery may be recommended once bone growth is complete.  Last updated: 10/20/2016

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

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 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 109)
idRelated DiseaseScoreTop Affiliating Genes
1mohr syndrome11.7
2orofaciodigital syndrome11.6
3fibromatosis multiple non ossifying11.4
4orofaciodigital syndrome i11.2
5orofaciodigital syndrome iv11.1
6orofaciodigital syndrome v10.9
7orofaciodigital syndrome ix10.8
8orofaciodigital syndrome xi10.8
9orofaciodigital syndrome viii10.8
10orofaciodigital syndrome iii10.8
11orofaciodigital syndrome x10.8
12orofaciodigital syndrome 1310.8
13orofaciodigital syndrome xiv10.8
14orofaciodigital syndrome vi10.7
15orofaciodigital syndrome 1210.7
16polydactyly cleft lip palate psychomotor retardation10.7
17penis papillary carcinoma10.5BGLAP, SPP1
18breast capillary hemangioma10.5BGLAP, SPARC
19blastomycosis10.5BMP2, SPARC
20mental retardation, autosomal recessive 3510.5BGLAP, CD36
21bone lymphoma10.5NF1, SPARC
22hemoglobin d disease10.4KRT1, KRT5
23rete testis neoplasm10.4KRT5, MET
24sm-ahnmd10.4MET, VIM
25idiopathic subglottic tracheal stenosis10.4SPP1, VIM
26papillary adenocarcinoma10.4BGLAP, SPARC, SPP1
27nail disorder, nonsyndromic congenital, 110.4BGLAP, SPARC, SPP1
28pancreatic delta cell neoplasm10.3NF1, VIM
29gliofibroma10.3GNAS, NF1
30sensory organ benign neoplasm10.3GNAS, SPARC
31clear cell adenoma10.3KRT5, MUC1
32oligoastrocytoma10.3KRT5, VIM
33lacrimal gland mucoepidermoid carcinoma10.3KRT5, MUC1
34pseudoglandular variant testicular seminoma10.2MUC1, NF1
35pauciarticular onset juvenile idiopathic arthritis10.2CD36, VIM
36gangliocytoma10.2SPARC, SPP1, VIM
37physical disorder10.2BGLAP, BMP2, SPP1
38fibroma10.2
39ossifying fibroma10.2
40retroperitoneal germ cell neoplasm10.2BGLAP, SPARC, VIM
412q33.1 microdeletion syndrome10.2MUC1, VIM
42neurofibromatosis, type 110.2
43anaplastic oligoastrocytoma10.1MUC1, VIM
44distal monosomy 7q3610.1MUC1, VIM
45pancreatic endocrine carcinoma10.1GNAS, MUC1
46comedo carcinoma10.1KRT5, MUC1
47lymphangiosarcoma10.1MUC1, VIM
48transitional meningioma10.1MUC1, VIM
49chondroblastoma10.1MUC1, VIM
50mesothelioma, somatic10.1MET, MUC1, SPP1

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



Diseases related to osteofibrous dysplasia

Symptoms & Phenotypes for Osteofibrous Dysplasia

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GenomeRNAi Phenotypes related to Osteofibrous Dysplasia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00055-A-18.9MET, MUC1, NF1, VIM

MGI Mouse Phenotypes related to Osteofibrous Dysplasia according to GeneCards Suite gene sharing:

41 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8GNAS, MET, NF1, SPARC, SPP1, TGFB1
2MP:00053708.7CD36, GNAS, MET, NF1, SPP1, TGFB1
3MP:00053718.7BMP2, GNAS, KRT5, MET, NF1, SPARC
4MP:00053888.4GNAS, MET, NF1, SPP1, TGFB1, VIM
5MP:00053918.4CD36, MET, NF1, SPARC, TGFB1, VIM
6MP:00053678.4CD36, GNAS, MET, NF1, SPP1, TGFB1
7MP:00053908.2BMP2, CD36, GNAS, NF1, SPARC, SPP1
8MP:00053698.1CD36, GNAS, MET, NF1, SPP1, TGFB1
9MP:00107718.1GNAS, KRT1, KRT5, NF1, SPARC, SPP1
10MP:00053817.8BMP2, CD36, KRT5, MET, NF1, TGFB1
11MP:00053827.8BMP2, GNAS, KRT5, MET, NF1, SPARC
12MP:00053847.6BMP2, CD36, GNAS, MET, NF1, SPP1
13MP:00053867.2CD36, GNAS, KRT5, MET, NF1, SPARC
14MP:00053976.9BMP2, CD36, GNAS, KRT1, NF1, SPARC
15MP:00053786.9BMP2, CD36, GNAS, KRT1, KRT5, MET
16MP:00036316.8BMP2, CD36, GNAS, KRT1, MET, NF1
17MP:00053876.7BMP2, CD36, GNAS, KRT1, MET, NF1
18MP:00053856.7BMP2, CD36, GNAS, KRT1, MET, NF1
19MP:00107686.6BMP2, CD36, GNAS, KRT1, KRT5, MET
20MP:00053766.5BMP2, CD36, GNAS, KRT1, MET, NF1

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:

36
Bone

Publications for Osteofibrous Dysplasia

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Articles related to Osteofibrous Dysplasia:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
Long-term outcome following treatment of Adamantinoma and Osteofibrous dysplasia of long bones. (27745864)
2016
2
Osteofibrous dysplasia of clavicle clinically mimicking chronic osteomyelitis. (27413281)
2016
3
Management of Large Maxillomandibular Osteofibrous Dysplasia as Part of a Humanitarian Mission. (27837651)
2016
4
Autologous mesenchymal stem cell (MSCs) transplantation for critical-sized bone defect following a wide excision of osteofibrous dysplasia. (26599503)
2015
5
Osteofibrous dysplasia-like adamantinoma in a 3-month-old male infant: a case report. (26012944)
2015
6
Osteofibrous Dysplasia-like Adamantinoma of the Tibia in a 15-Year-Old Girl. (26447423)
2015
7
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. (26637977)
2015
8
Osteofibrous Dysplasia managed with Extraperiosteal excision, Autologous free fibular graft and bone graft substitute. (27299018)
2015
9
Imaging in osteofibrous dysplasia, osteofibrous dysplasia-like adamantinoma, and classic adamantinoma. (24199850)
2014
10
MR findings of the osteofibrous dysplasia. (24497800)
2014
11
Congenital Osteofibrous Dysplasia Campanacci: Spontaneous Postbioptic Regression. (23774157)
2013
12
Neonatal osteofibrous dysplasia associated with pathological tibia fracture: a case report and review of the literature. (21383639)
2012
13
Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones. (21983933)
2012
14
Podoplanin expression in adamantinoma of long bones and osteofibrous dysplasia. (21499851)
2011
15
Osteofibrous dysplasia: A case report and review of the literature. (27307931)
2011
16
Marginal excision and Ilizarov hemicallotasis for osteofibrous dysplasia of the tibia: a case report. (21164362)
2011
17
Is there a link between osteofibrous dysplasia and adamantinoma? (22079612)
2011
18
Osteofibrous dysplasia and adamantinoma. (20511441)
2010
19
Minimally invasive plate osteosynthesis for osteofibrous dysplasia of the tibia: a case report. (21187556)
2010
20
Osteofibrous dysplasia and adamantinoma in children and adolescents: a clinicopathologic reappraisal. (18300815)
2008
21
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
22
Congenital osteofibrous dysplasia of the tibia, associated with pseudoarthrosis of the ipsilateral fibula. (18946584)
2008
23
Treatment of osteofibrous dysplasia and associated lesions. (17594160)
2007
24
Osteofibrous dysplasia of the tibia. (17259434)
2007
25
Frequent immunoexpression of TGF-beta1, FGF-2 and BMP-2 in fibroblast-like cells in osteofibrous dysplasia. (17273729)
2007
26
Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula. (16944141)
2007
27
A classic adamantinoma arising from osteofibrous dysplasia-like adamantinoma in the lower leg: a case report and review of the literature. (16636523)
2006
28
Osteofibrous dysplasia of the tibia. Is there a need for a radical surgical approach? (16645116)
2006
29
Familial osteofibrous dysplasia. A case series. (16203897)
2005
30
Effective analgesia with tramadol for osteofibrous dysplasia refractory to NSAID medication. (16005174)
2005
31
Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia. (15258702)
2004
32
Osteofibrous dysplasia treated with distraction osteogenesis: a report of two cases. (15449128)
2004
33
Osteofibrous dysplasia and adamantinoma: correlation of proto-oncogene product and matrix protein expression. (14745727)
2004
34
Giant osteofibrous dysplasia (ossifying fibroma) of the tibia: case report and review of treatment modalities. (18521395)
2004
35
Classic adamantinoma with osteofibrous dysplasia-like foci and secondary aneurysmal bone cyst. (12574919)
2003
36
CD99 positive adamantinoma of the ulna with ipsilateral discrete osteofibrous dysplasia. (12616068)
2003
37
Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma. (12679847)
2003
38
Osteofibrous dysplasia: a review of the literature and presentation of an additional 3 cases. (14620087)
2003
39
Osteofibrous dysplasia in a Japanese boy with Costello syndrome. (14564166)
2003
40
Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement. (12239726)
2002
41
Comparative study of fibrous dysplasia and osteofibrous dysplasia: histopathological, immunohistochemical, argyrophilic nucleolar organizer region and DNA ploidy analysis. (11564214)
2001
42
Immunoexpression of neurofibromin, S-100 protein, and leu-7 and mutation analysis of the NF1 gene at codon 1423 in osteofibrous dysplasia. (11727265)
2001
43
Osteofibrous dysplasia of the ulna. (11793188)
2001
44
Osteofibrous dysplasia of the ulna. (11764436)
2001
45
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
46
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
47
Osteofibrous dysplasia of the tibia: case report and review of the literature. (10709600)
1999
48
A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to expressions of c-fos and c-jun products and bone matrix proteins: a clinicopathologic review and immunohistochemical study of c-fos, c-jun, type I collagen, osteonectin, osteopontin, and osteocalcin. (10667418)
1999
49
Treatment outcome of osteofibrous dysplasia. (9702669)
1998
50
Osteofibrous dysplasia-like adamantinoma of bone: a report of five cases with immunohistochemical and ultrastructural studies. (9712421)
1998

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
1cell projectionGO:004299510.1BGLAP, SPP1, VIM
2platelet alpha granule membraneGO:00310929.9CD36, SPARC
3Golgi lumenGO:00057969.6BGLAP, MUC1, TGFB1
4cell surfaceGO:00099869.4BMP2, CD36, MET, SPARC, TGFB1
5extracellular regionGO:00055769.1BGLAP, BMP2, MET, SPARC, SPP1, TGFB1
6extracellular spaceGO:00056157.8BGLAP, BMP2, CD36, KRT1, MUC1, SPARC
7plasma membraneGO:00058866.8CD36, GNAS, KRT1, KRT5, MET, MUC1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1response to gravityGO:000962910.5BGLAP, SPARC
2negative regulation of transcription factor import into nucleusGO:004299210.4CD36, NF1
3regulation of bone resorptionGO:004512410.4BGLAP, NF1
4bone developmentGO:006034810.2BGLAP, GNAS, SPARC
5negative regulation of neuroblast proliferationGO:000740610.2NF1, TGFB1
6pathway-restricted SMAD protein phosphorylationGO:006038910.1BMP2, TGFB1
7positive regulation of odontogenesisGO:004248210.1BMP2, TGFB1
8positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.1BMP2, TGFB1
9platelet degranulationGO:000257610.0CD36, SPARC, TGFB1
10response to vitamin DGO:00332809.9BGLAP, SPP1, TGFB1
11inner ear developmentGO:00488399.8BMP2, SPARC, TGFB1
12negative regulation of gene expressionGO:00106299.8BMP2, CD36, TGFB1
13osteoblast differentiationGO:00016499.6BGLAP, BMP2, NF1, SPP1
14cellular response to growth factor stimulusGO:00713639.5BGLAP, BMP2, SPARC, TGFB1
15SMAD protein signal transductionGO:00603959.3BMP2, TGFB1, VIM
16wound healingGO:00420609.3NF1, SPARC, TGFB1
17response to hypoxiaGO:00016668.8BMP2, 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

Sources for Osteofibrous Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet