OSFD
MCID: OST032
MIFTS: 38

Osteofibrous Dysplasia (OSFD) 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 juvenile ossifying fibroma and mohr syndrome. An important gene associated with Osteofibrous Dysplasia is SPARC (Secreted Protein Acidic And Cysteine Rich), and among its related pathways are FGF signaling pathway and Syndecan-1-mediated signaling events. 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 94)
idRelated DiseaseScoreTop Affiliating Genes
1juvenile ossifying fibroma12.4
2mohr syndrome11.7
3orofaciodigital syndrome11.6
4fibromatosis multiple non ossifying11.3
5orofaciodigital syndrome i11.2
6orofaciodigital syndrome iv11.1
7orofaciodigital syndrome v10.9
8orofaciodigital syndrome ix10.8
9orofaciodigital syndrome xi10.8
10orofaciodigital syndrome viii10.8
11orofaciodigital syndrome iii10.8
12orofaciodigital syndrome x10.8
13orofaciodigital syndrome 1310.8
14orofaciodigital syndrome xiv10.8
15orofaciodigital syndrome vi10.7
16orofaciodigital syndrome 1210.7
17polydactyly cleft lip palate psychomotor retardation10.7
18sarcomatosis10.3BGLAP, SPARC
19epilepsy, idiopathic generalized 1410.3BGLAP, CD36
20akinetic mutism10.2CD36, SPARC
21hypophosphatasia, adult10.2BGLAP, SPP1
22prolactin producing pituitary tumor10.2KRT5, MUC1
23urethral cancer10.2MET, VIM
24ribbing disease10.2SPP1, VIM
25binocular vision disease10.2BMP2, SPARC
26serous cystadenocarcinoma10.2BGLAP, SPARC, SPP1
27laryngeal mucoepidermoid carcinoma10.2KRT5, MUC1
28trombiculiasis10.2MUC1, NF1
29adult central nervous system primitive neuroectodermal neoplasm10.2MET, VIM
30fibroma10.2
31ossifying fibroma10.2
32myoma10.2MUC1, VIM
33immunodeficiency due to a classical component pathway complement deficiency10.2MUC1, VIM
34prostatocystitis10.2BGLAP, CD36, SPARC
35spleen angiosarcoma10.2MUC1, VIM
36pulmonary fibrosis10.2BMP2, NF1
37marfanoid hypermobility syndrome10.2MUC1, VIM
38juvenile onset parkinson disease 19a10.2BGLAP, BMP2
39autosomal recessive stickler syndrome10.2MUC1, VIM
40vulvar proximal-type epithelioid sarcoma10.2MET, MUC1, SPP1
41gestational ovarian choriocarcinoma10.2GNAS, MUC1
42immunodeficiency 3710.2MET, MUC1, SPP1
43biliary papillomatosis10.2MUC1, VIM
44urinary system disease10.2GNAS, MUC1
45postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma10.2MUC1, VIM
46adult brainstem gliosarcoma10.2MET, VIM
47microinvasive cervical squamous cell carcinoma10.2MUC1, VIM
48noonan syndrome 410.2CD36, TGFB1
49endometrial stromal sarcoma10.1MUC1, VIM
50tanycytic ependymoma10.1MUC1, VIM

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-19.3MET, MUC1, NF1, VIM

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

41 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6GNAS, MET, NF1, SPARC, SPP1, TGFB1
2MP:00053718.4BMP2, GNAS, KRT5, MET, NF1, SPARC
3MP:00053678.4CD36, GNAS, MET, NF1, SPP1, TGFB1
4MP:00053818.1BMP2, CD36, KRT5, MET, NF1, TGFB1
5MP:00053888.0GNAS, MET, NF1, SPP1, TGFB1, VIM
6MP:00053907.9BMP2, CD36, GNAS, NF1, SPARC, SPP1
7MP:00053697.8CD36, GNAS, MET, NF1, SPP1, TGFB1
8MP:00053827.8BMP2, GNAS, KRT5, MET, NF1, SPARC
9MP:00053707.8CD36, GNAS, MET, NF1, SPP1, TGFB1
10MP:00053867.3CD36, GNAS, KRT5, MET, NF1, SPARC
11MP:00107717.3GNAS, KRT1, KRT5, NF1, SPARC, SPP1
12MP:00053856.4BMP2, CD36, GNAS, KRT1, MET, NF1
13MP:00053786.4BMP2, CD36, GNAS, KRT1, KRT5, MET
14MP:00053766.3BMP2, CD36, GNAS, KRT1, MET, NF1
15MP:00036316.3BMP2, CD36, GNAS, KRT1, MET, NF1
16MP:00053976.3BMP2, CD36, GNAS, KRT1, NF1, SPARC
17MP:00053876.2BMP2, CD36, GNAS, KRT1, MET, NF1
18MP:00107686.2BMP2, CD36, GNAS, KRT1, KRT5, MET

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
Osteofibrous Dysplasia managed with Extraperiosteal excision, Autologous free fibular graft and bone graft substitute. (27299018)
2015
5
Osteofibrous Dysplasia-like Adamantinoma of the Tibia in a 15-Year-Old Girl. (26447423)
2015
6
Autologous mesenchymal stem cell (MSCs) transplantation for critical-sized bone defect following a wide excision of osteofibrous dysplasia. (26599503)
2015
7
Osteofibrous dysplasia-like adamantinoma in a 3-month-old male infant: a case report. (26012944)
2015
8
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. (26637977)
2015
9
MR findings of the osteofibrous dysplasia. (24497800)
2014
10
Imaging in osteofibrous dysplasia, osteofibrous dysplasia-like adamantinoma, and classic adamantinoma. (24199850)
2014
11
Congenital Osteofibrous Dysplasia Campanacci: Spontaneous Postbioptic Regression. (23774157)
2013
12
Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones. (21983933)
2012
13
Neonatal osteofibrous dysplasia associated with pathological tibia fracture: a case report and review of the literature. (21383639)
2012
14
Is there a link between osteofibrous dysplasia and adamantinoma? (22079612)
2011
15
Marginal excision and Ilizarov hemicallotasis for osteofibrous dysplasia of the tibia: a case report. (21164362)
2011
16
Osteofibrous dysplasia: A case report and review of the literature. (27307931)
2011
17
Podoplanin expression in adamantinoma of long bones and osteofibrous dysplasia. (21499851)
2011
18
Minimally invasive plate osteosynthesis for osteofibrous dysplasia of the tibia: a case report. (21187556)
2010
19
Osteofibrous dysplasia and adamantinoma. (20511441)
2010
20
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
21
Congenital osteofibrous dysplasia of the tibia, associated with pseudoarthrosis of the ipsilateral fibula. (18946584)
2008
22
Osteofibrous dysplasia and adamantinoma in children and adolescents: a clinicopathologic reappraisal. (18300815)
2008
23
Frequent immunoexpression of TGF-beta1, FGF-2 and BMP-2 in fibroblast-like cells in osteofibrous dysplasia. (17273729)
2007
24
Treatment of osteofibrous dysplasia and associated lesions. (17594160)
2007
25
Osteofibrous dysplasia of the tibia. (17259434)
2007
26
Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula. (16944141)
2007
27
Osteofibrous dysplasia of the tibia. Is there a need for a radical surgical approach? (16645116)
2006
28
A classic adamantinoma arising from osteofibrous dysplasia-like adamantinoma in the lower leg: a case report and review of the literature. (16636523)
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
Giant osteofibrous dysplasia (ossifying fibroma) of the tibia: case report and review of treatment modalities. (18521395)
2004
34
Osteofibrous dysplasia and adamantinoma: correlation of proto-oncogene product and matrix protein expression. (14745727)
2004
35
Osteofibrous dysplasia: a review of the literature and presentation of an additional 3 cases. (14620087)
2003
36
Classic adamantinoma with osteofibrous dysplasia-like foci and secondary aneurysmal bone cyst. (12574919)
2003
37
Osteofibrous dysplasia in a Japanese boy with Costello syndrome. (14564166)
2003
38
CD99 positive adamantinoma of the ulna with ipsilateral discrete osteofibrous dysplasia. (12616068)
2003
39
Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma. (12679847)
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
Osteofibrous dysplasia of the ulna. (11764436)
2001
43
Osteofibrous dysplasia of the ulna. (11793188)
2001
44
Immunoexpression of neurofibromin, S-100 protein, and leu-7 and mutation analysis of the NF1 gene at codon 1423 in osteofibrous dysplasia. (11727265)
2001
45
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
46
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
47
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
48
Osteofibrous dysplasia of the tibia: case report and review of the literature. (10709600)
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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Pathways related to Osteofibrous Dysplasia according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
19.6BGLAP, MET, SPP1
29.5MET, TGFB1
39.4TGFB1, VIM
49.4BGLAP, GNAS, SPP1
59.3BMP2, TGFB1
69.2CD36, MET, TGFB1
79.1BMP2, SPARC, TGFB1
89.1MET, TGFB1, VIM
9
Show member pathways
8.9KRT1, KRT5, VIM
10
Show member pathways
8.8BMP2, SPARC, SPP1, TGFB1
118.7CD36, MUC1, TGFB1, VIM
128.5BGLAP, BMP2, SPARC, SPP1, TGFB1
138.5GNAS, KRT1, TGFB1
148.5BMP2, GNAS, MET, TGFB1
15
Show member pathways
8.2BMP2, GNAS, MET, SPP1, TGFB1
16
Show member pathways
8.0CD36, MET, MUC1, NF1, TGFB1, VIM
17
Show member pathways
7.0BMP2, GNAS, MET, MUC1, NF1, SPP1

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:003109210.5CD36, SPARC
2Golgi lumenGO:00057969.7BGLAP, MUC1, TGFB1
3cell surfaceGO:00099869.3BMP2, CD36, MET, SPARC, TGFB1
4vesicleGO:00319829.2BGLAP, MUC1, SPARC, SPP1
5extracellular spaceGO:00056157.6BGLAP, BMP2, CD36, KRT1, MUC1, SPARC
6extracellular regionGO:00055767.2BGLAP, BMP2, GNAS, KRT1, MET, MUC1

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1response to gravityGO:000962910.6BGLAP, SPARC
2negative regulation of transcription factor import into nucleusGO:004299210.5CD36, NF1
3regulation of bone resorptionGO:004512410.5BGLAP, NF1
4negative regulation of neuroblast proliferationGO:000740610.2NF1, TGFB1
5bone developmentGO:006034810.1BGLAP, GNAS, SPARC
6ossificationGO:000150310.1BGLAP, BMP2, SPARC
7establishment of skin barrierGO:006143610.0KRT1, MET
8pathway-restricted SMAD protein phosphorylationGO:006038910.0BMP2, TGFB1
9positive regulation of odontogenesisGO:004248210.0BMP2, TGFB1
10positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.0BMP2, TGFB1
11platelet degranulationGO:000257610.0CD36, SPARC, TGFB1
12response to vitamin DGO:00332809.9BGLAP, SPP1, TGFB1
13inner ear developmentGO:00488399.8BMP2, SPARC, TGFB1
14skeletal system developmentGO:00015019.7BGLAP, BMP2, GNAS
15osteoblast differentiationGO:00016499.7BGLAP, BMP2, NF1, SPP1
16female pregnancyGO:00075659.6GNAS, MUC1, TGFB1
17cellular response to growth factor stimulusGO:00713639.5BGLAP, BMP2, SPARC, TGFB1
18heart developmentGO:00075079.4BMP2, NF1, SPARC, TGFB1
19SMAD protein signal transductionGO:00603959.4BMP2, TGFB1, VIM
20wound healingGO:00420609.2NF1, SPARC, TGFB1
21response to hypoxiaGO:00016669.2BMP2, MUC1, NF1, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:005084010.8SPARC, SPP1
2protein bindingGO:00055155.3BMP2, CD36, GNAS, KRT1, KRT5, MET

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