OSFD
MCID: OST032
MIFTS: 38

Osteofibrous Dysplasia (OSFD) malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Osteofibrous Dysplasia

Aliases & Descriptions for Osteofibrous Dysplasia:

Name: Osteofibrous Dysplasia 50 66 52 69
Jaffe-Campanacci Syndrome 50 69
Ossifying Fibroma 50 69
Bowing of Tibia with Pseudarthrosis and Pectus Excavatum 66
Intracortical Fibrous Dysplasia 50
Osfd 66
Ofd 66

Classifications:



External Ids:

MedGen 40 C1709353
MeSH 42 D001848

Summaries for Osteofibrous Dysplasia

NIH Rare Diseases : 50 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/superpathways are ERK Signaling and Cytokine Signaling in Immune system. Affiliated tissues include bone, and related phenotypes are Decreased cell migration and growth/size/body region

UniProtKB/Swiss-Prot : 66 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

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

(show top 50) (show all 94)
id Related Disease Score Top Affiliating Genes
1 juvenile ossifying fibroma 12.4
2 mohr syndrome 11.7
3 orofaciodigital syndrome 11.6
4 fibromatosis multiple non ossifying 11.3
5 orofaciodigital syndrome i 11.2
6 orofaciodigital syndrome iv 11.1
7 orofaciodigital syndrome v 10.9
8 orofaciodigital syndrome ix 10.8
9 orofaciodigital syndrome xi 10.8
10 orofaciodigital syndrome viii 10.8
11 orofaciodigital syndrome iii 10.8
12 orofaciodigital syndrome 13 10.8
13 orofaciodigital syndrome x 10.8
14 orofaciodigital syndrome xiv 10.8
15 orofaciodigital syndrome vi 10.7
16 orofaciodigital syndrome 12 10.7
17 polydactyly cleft lip palate psychomotor retardation 10.7
18 sarcomatosis 10.3 BGLAP SPARC
19 epilepsy, idiopathic generalized 14 10.3 BGLAP CD36
20 akinetic mutism 10.2 CD36 SPARC
21 hypophosphatasia, adult 10.2 BGLAP SPP1
22 prolactin producing pituitary tumor 10.2 KRT5 MUC1
23 urethral cancer 10.2 MET VIM
24 ribbing disease 10.2 SPP1 VIM
25 binocular vision disease 10.2 BMP2 SPARC
26 serous cystadenocarcinoma 10.2 BGLAP SPARC SPP1
27 laryngeal mucoepidermoid carcinoma 10.2 KRT5 MUC1
28 trombiculiasis 10.2 MUC1 NF1
29 adult central nervous system primitive neuroectodermal neoplasm 10.2 MET VIM
30 fibroma 10.2
31 ossifying fibroma 10.2
32 myoma 10.2 MUC1 VIM
33 immunodeficiency due to a classical component pathway complement deficiency 10.2 MUC1 VIM
34 prostatocystitis 10.2 BGLAP CD36 SPARC
35 spleen angiosarcoma 10.2 MUC1 VIM
36 pulmonary fibrosis 10.2 BMP2 NF1
37 marfanoid hypermobility syndrome 10.2 MUC1 VIM
38 juvenile onset parkinson disease 19a 10.2 BGLAP BMP2
39 autosomal recessive stickler syndrome 10.2 MUC1 VIM
40 vulvar proximal-type epithelioid sarcoma 10.2 MET MUC1 SPP1
41 gestational ovarian choriocarcinoma 10.2 GNAS MUC1
42 immunodeficiency 37 10.2 MET MUC1 SPP1
43 biliary papillomatosis 10.2 MUC1 VIM
44 urinary system disease 10.2 GNAS MUC1
45 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma 10.2 MUC1 VIM
46 adult brainstem gliosarcoma 10.2 MET VIM
47 microinvasive cervical squamous cell carcinoma 10.2 MUC1 VIM
48 noonan syndrome 4 10.2 CD36 TGFB1
49 endometrial stromal sarcoma 10.1 MUC1 VIM
50 tanycytic ependymoma 10.1 MUC1 VIM

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



Diseases related to Osteofibrous Dysplasia

Symptoms & Phenotypes for Osteofibrous Dysplasia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.92 MET MUC1 NF1 VIM

MGI Mouse Phenotypes related to Osteofibrous Dysplasia:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.24 BMP2 CD36 GNAS KRT1 KRT5 MET
2 behavior/neurological MP:0005386 10.23 GNAS KRT5 MET NF1 SPARC SPP1
3 cardiovascular system MP:0005385 10.22 BMP2 CD36 GNAS KRT1 MET NF1
4 homeostasis/metabolism MP:0005376 10.21 BMP2 CD36 GNAS KRT1 MET NF1
5 immune system MP:0005387 10.19 GNAS KRT1 MET NF1 SPARC SPP1
6 hematopoietic system MP:0005397 10.18 BMP2 CD36 GNAS KRT1 NF1 SPARC
7 craniofacial MP:0005382 10.16 BMP2 GNAS KRT5 MET NF1 SPARC
8 mortality/aging MP:0010768 10.1 BMP2 CD36 GNAS KRT1 KRT5 MET
9 digestive/alimentary MP:0005381 10.02 BMP2 CD36 KRT5 MET NF1 TGFB1
10 integument MP:0010771 10.02 KRT5 NF1 SPARC SPP1 TGFB1 GNAS
11 limbs/digits/tail MP:0005371 9.93 BMP2 GNAS KRT5 MET NF1 SPARC
12 liver/biliary system MP:0005370 9.91 CD36 GNAS MET NF1 SPP1 TGFB1
13 muscle MP:0005369 9.91 GNAS MET NF1 SPP1 TGFB1 VIM
14 nervous system MP:0003631 9.91 BMP2 CD36 GNAS KRT1 MET NF1
15 neoplasm MP:0002006 9.8 GNAS MET NF1 SPARC SPP1 TGFB1
16 renal/urinary system MP:0005367 9.63 CD36 GNAS MET NF1 SPP1 TGFB1
17 respiratory system MP:0005388 9.43 MET NF1 SPP1 TGFB1 VIM GNAS
18 skeleton MP:0005390 9.17 BMP2 CD36 GNAS NF1 SPARC SPP1

Drugs & Therapeutics for Osteofibrous Dysplasia

Search Clinical Trials , NIH Clinical Center for Osteofibrous Dysplasia

Genetic Tests for Osteofibrous Dysplasia

Anatomical Context for Osteofibrous Dysplasia

MalaCards organs/tissues related to Osteofibrous Dysplasia:

39
Bone

Publications for Osteofibrous Dysplasia

Articles related to Osteofibrous Dysplasia:

(show top 50) (show all 84)
id Title Authors Year
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

Expression for Osteofibrous Dysplasia

Search GEO for disease gene expression data for Osteofibrous Dysplasia.

Pathways for Osteofibrous Dysplasia

Pathways related to Osteofibrous Dysplasia according to GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 BMP2 GNAS MET MUC1 NF1 SPP1
2
Show member pathways
13.04 CD36 MET MUC1 NF1 TGFB1 VIM
3
Show member pathways
12.78 BMP2 GNAS MET SPP1 TGFB1
4
Show member pathways
12.52 BMP2 SPARC SPP1 TGFB1
5 12.45 BMP2 GNAS MET TGFB1
6 11.84 MET TGFB1 VIM
7
Show member pathways
11.64 KRT1 KRT5 VIM
8 11.61 BMP2 SPARC TGFB1
9 11.51 GNAS KRT1 TGFB1
10 11.31 CD36 MUC1 TGFB1 VIM
11 11.19 CD36 MET TGFB1
12 11.1 BGLAP MET SPP1
13 11 BGLAP BMP2 SPARC SPP1 TGFB1
14 10.92 BGLAP GNAS SPP1
15 10.88 BMP2 TGFB1
16 10.77 TGFB1 VIM
17 10.71 MET TGFB1

GO Terms for Osteofibrous Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.65 BMP2 CD36 MET SPARC TGFB1
2 extracellular region GO:0005576 9.61 BGLAP BMP2 GNAS KRT1 MET MUC1
3 Golgi lumen GO:0005796 9.5 BGLAP MUC1 TGFB1
4 vesicle GO:0031982 9.46 BGLAP MUC1 SPARC SPP1
5 platelet alpha granule membrane GO:0031092 9.37 CD36 SPARC
6 extracellular space GO:0005615 9.23 BGLAP BMP2 CD36 KRT1 MUC1 SPARC

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.8 BMP2 NF1 SPARC TGFB1
2 skeletal system development GO:0001501 9.77 BGLAP BMP2 GNAS
3 platelet degranulation GO:0002576 9.75 CD36 SPARC TGFB1
4 wound healing GO:0042060 9.73 NF1 SPARC TGFB1
5 female pregnancy GO:0007565 9.72 GNAS MUC1 TGFB1
6 ossification GO:0001503 9.71 BGLAP BMP2 SPARC
7 SMAD protein signal transduction GO:0060395 9.65 BMP2 TGFB1 VIM
8 inner ear development GO:0048839 9.63 BMP2 SPARC TGFB1
9 positive regulation of pri-miRNA transcription from RNA polymerase II promoter GO:1902895 9.59 BMP2 TGFB1
10 establishment of skin barrier GO:0061436 9.58 KRT1 MET
11 bone development GO:0060348 9.58 BGLAP GNAS SPARC
12 pathway-restricted SMAD protein phosphorylation GO:0060389 9.57 BMP2 TGFB1
13 response to hypoxia GO:0001666 9.56 BMP2 MUC1 NF1 TGFB1
14 response to gravity GO:0009629 9.52 BGLAP SPARC
15 regulation of bone resorption GO:0045124 9.51 BGLAP NF1
16 osteoblast differentiation GO:0001649 9.46 BGLAP BMP2 NF1 SPP1
17 negative regulation of neuroblast proliferation GO:0007406 9.43 NF1 TGFB1
18 positive regulation of odontogenesis GO:0042482 9.37 BMP2 TGFB1
19 negative regulation of transcription factor import into nucleus GO:0042992 9.32 CD36 NF1
20 response to vitamin D GO:0033280 9.13 BGLAP SPP1 TGFB1
21 cellular response to growth factor stimulus GO:0071363 8.92 BGLAP BMP2 SPARC TGFB1

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.4 BMP2 CD36 GNAS KRT1 KRT5 MET
2 extracellular matrix binding GO:0050840 8.96 SPARC SPP1

Sources for Osteofibrous Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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