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 47 69 49 67
Jaffe-Campanacci Syndrome 47 67
Ossifying Fibroma 47 67
Bowing of Tibia with Pseudarthrosis and Pectus Excavatum 69
 
Intracortical Fibrous Dysplasia 47
Osfd 69
Ofd 69

Classifications:



External Ids:

MedGen36 C1709353
MeSH38 D001848

Summaries for Osteofibrous Dysplasia

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UniProtKB/Swiss-Prot:69 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 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 neoplasm and liver/biliary system.

Wikipedia:70 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 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:

35
Bone

Animal Models for Osteofibrous Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Osteofibrous Dysplasia:

40 (show all 21)
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

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
Autologous mesenchymal stem cell (MSCs) transplantation for critical-sized bone defect following a wide excision of osteofibrous dysplasia. (26599503)
2015
4
Osteofibrous dysplasia-like adamantinoma in a 3-month-old male infant: a case report. (26012944)
2015
5
Imaging in osteofibrous dysplasia, osteofibrous dysplasia-like adamantinoma, and classic adamantinoma. (24199850)
2014
6
Neonatal osteofibrous dysplasia associated with pathological tibia fracture: a case report and review of the literature. (21383639)
2012
7
Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones. (21983933)
2012
8
Podoplanin expression in adamantinoma of long bones and osteofibrous dysplasia. (21499851)
2011
9
Osteofibrous dysplasia: A case report and review of the literature. (27307931)
2011
10
Osteofibrous dysplasia and adamantinoma. (20511441)
2010
11
Minimally invasive plate osteosynthesis for osteofibrous dysplasia of the tibia: a case report. (21187556)
2010
12
Osteofibrous dysplasia and adamantinoma in children and adolescents: a clinicopathologic reappraisal. (18300815)
2008
13
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
14
Congenital osteofibrous dysplasia of the tibia, associated with pseudoarthrosis of the ipsilateral fibula. (18946584)
2008
15
Treatment of osteofibrous dysplasia and associated lesions. (17594160)
2007
16
Osteofibrous dysplasia of the tibia. (17259434)
2007
17
A classic adamantinoma arising from osteofibrous dysplasia-like adamantinoma in the lower leg: a case report and review of the literature. (16636523)
2006
18
Osteofibrous dysplasia of the tibia. Is there a need for a radical surgical approach? (16645116)
2006
19
Familial osteofibrous dysplasia. A case series. (16203897)
2005
20
Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia. (15258702)
2004
21
Osteofibrous dysplasia treated with distraction osteogenesis: a report of two cases. (15449128)
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:003109210.5CD36, SPARC
2Golgi lumenGO:00057969.4BGLAP, MUC1, TGFB1
3cell projectionGO:00429959.0BGLAP, SPP1, VIM
4cell surfaceGO:00099868.8BMP2, CD36, MET, SPARC, TGFB1
5extracellular regionGO:00055768.6BGLAP, BMP2, MET, SPARC, SPP1, TGFB1
6extracellular spaceGO:00056157.1BGLAP, BMP2, CD36, KRT1, MUC1, SPARC
7plasma membraneGO:00058866.5CD36, 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:000962910.4BGLAP, SPARC
2negative regulation of transcription factor import into nucleusGO:004299210.3CD36, NF1
3regulation of bone resorptionGO:004512410.2BGLAP, NF1
4bone developmentGO:006034810.0BGLAP, GNAS, SPARC
5pathway-restricted SMAD protein phosphorylationGO:006038910.0BMP2, TGFB1
6positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.0BMP2, TGFB1
7positive regulation of odontogenesisGO:004248210.0BMP2, TGFB1
8negative regulation of neuroblast proliferationGO:00074069.9NF1, TGFB1
9platelet degranulationGO:00025769.8CD36, SPARC, TGFB1
10response to vitamin DGO:00332809.7BGLAP, SPP1, TGFB1
11inner ear developmentGO:00488399.3BMP2, SPARC, TGFB1
12SMAD protein signal transductionGO:00603959.3BMP2, TGFB1, VIM
13wound healingGO:00420609.3NF1, SPARC, TGFB1
14negative regulation of gene expressionGO:00106299.2BMP2, CD36, TGFB1
15cellular response to growth factor stimulusGO:00713639.1BGLAP, BMP2, SPARC, TGFB1
16osteoblast differentiationGO:00016499.0BGLAP, BMP2, NF1, SPP1
17response to hypoxiaGO:00016668.2BMP2, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet