MCID: OST032
MIFTS: 46

Osteofibrous Dysplasia

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Osteofibrous Dysplasia

MalaCards integrated aliases for Osteofibrous Dysplasia:

Name: Osteofibrous Dysplasia 54 50 56 71 29 52 69
Jaffe-Campanacci Syndrome 50 69
Ossifying Fibroma 50 69
Ofd 56 71
Bowing of Tibia with Pseudarthrosis and Pectus Excavatum 71
Intracortical Fibrous Dysplasia 50
Osfd 71

Characteristics:

OMIM:

54
Miscellaneous:
no radiologic evidence of persistent disease in adulthood
onset of symptoms in childhood
spontaneous resolution of lesions during skeletal maturation

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 54 607278
Orphanet 56 ORPHA488265
MedGen 40 C1709353
MeSH 42 D001848

Summaries for Osteofibrous Dysplasia

OMIM : 54
Osteofibrous dysplasia is a tumor-like bone lesion that usually presents as a painless swelling or anterior bowing of the tibia (Park et al., 1993), although pain may occur in up to 25% of cases and presentation may follow pathologic fracture. Most reports of osteofibrous dysplasia describe isolated tibial lesions, although a significant subgroup describe isolated and ipsilateral fibular involvement. Cases with ulnar and radial involvement have been reported (summary by Hunter and Jarvis, 2002). OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation; the residuum is most commonly mild bowing at the affected site. Prior to their resolution, secondary complications such as nonunion fractures and pseudoarthrosis formation can occur. Histologically, OSFD lesions exhibit 'zonal architecture' characterized by spindle-shaped fibroblast-like cells in the center of the lesions that are progressively replaced with peripherally located, more differentiated cells from the osteoblastic lineage. The cells lying at the center of the lesions stain for markers of undifferentiated mesenchymal cell states, whereas bridging zones of osteoid with surface osteoblasts and embedded osteocytic cells are interspersed between the lesions. In OSFD, the unossified zones eventually mineralize after replacement with normal osteoid and, finally, bone. This histologic progression corresponds with the clinical and radiographic resolution of the lesions (summary by Gray et al., 2015). Hunter and Jarvis (2002) noted that there may be a relationship between osteofibrous dysplasia and adamantinoma of long bones (102660), although the latter condition usually presents at a later age. (607278)

MalaCards based summary : Osteofibrous Dysplasia, also known as jaffe-campanacci syndrome, is related to fibroma and juvenile ossifying fibroma. An important gene associated with Osteofibrous Dysplasia is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are ERK Signaling and Cytokine Signaling in Immune system. Affiliated tissues include bone and cortex, and related phenotypes are Decreased cell migration and growth/size/body region

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

UniProtKB/Swiss-Prot : 71 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 : 72 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 128)
id Related Disease Score Top Affiliating Genes
1 fibroma 30.4 GNAS MUC1
2 juvenile ossifying fibroma 12.4
3 mohr syndrome 11.7
4 orofaciodigital syndrome 11.6
5 orofaciodigital syndrome i 11.2
6 fibromatosis multiple non ossifying 11.2
7 orofaciodigital syndrome iv 11.1
8 orofaciodigital syndrome v 10.9
9 orofaciodigital syndrome ix 10.8
10 orofaciodigital syndrome xi 10.8
11 orofaciodigital syndrome viii 10.8
12 orofaciodigital syndrome 13 10.8
13 orofaciodigital syndrome iii 10.8
14 orofaciodigital syndrome x 10.8
15 orofaciodigital syndrome xiv 10.8
16 parathyroid transitional clear cell adenoma 10.8 BGLAP SPARC
17 orofaciodigital syndrome xv 10.7
18 orofaciodigital syndrome 12 10.7
19 polydactyly cleft lip palate psychomotor retardation 10.7
20 orofaciodigital syndrome vi 10.7
21 breast epithelioid hemangioma 10.7 BGLAP SPARC
22 hypophosphatasia, adult 10.6 BGLAP SPP1
23 spinocerebellar ataxia 4 10.6 BGLAP CD36
24 binocular vision disease 10.6 BMP2 SPARC
25 diffuse pulmonary fibrosis 10.6 KRT5 MET
26 glomangiomyoma 10.6 BGLAP SPP1
27 uniparental disomy of chromosome 11 10.6 MET VIM
28 adult medulloblastoma 10.5 MET VIM
29 rhabditida infections 10.5 SPP1 VIM
30 aggressive systemic mastocytosis 10.5 MET VIM
31 papillary carcinoma 10.5 BGLAP SPARC SPP1
32 lung lymphoma 10.5 NF1 SPARC
33 ectopic cushing syndrome 10.5 BGLAP BMP2
34 skin papilloma 10.5 KRT5 VIM
35 prostatocystitis 10.5 BGLAP CD36 SPARC
36 xanthomatosis 10.4 BGLAP GNAS
37 pineal gland astrocytoma 10.4 GNAS NF1
38 bronchus adenoma 10.4 KRT5 MUC1
39 olivopontocerebellar atrophy deafness 10.4 KRT5 VIM
40 mucoepidermoid esophageal carcinoma 10.4 KRT5 MUC1
41 craniosynostosis 7 10.3 BMP2 SPARC SPP1
42 gastroesophageal junction adenocarcinoma 10.3 KRT5 MUC1
43 enteric pattern testicular yolk sac tumor 10.3 MUC1 NF1
44 physical disorder 10.3 BGLAP BMP2 SPP1
45 worth's syndrome 10.3 BGLAP GNAS SPARC
46 2q31.1 microdeletion syndrome 10.2 MUC1 VIM
47 ossifying fibroma 10.2
48 situs inversus 10.2 GNAS MUC1
49 urinary system disease 10.2 GNAS MUC1
50 myeloid/lymphoid neoplasm associated with pdgfra rearrangement 10.2 MUC1 VIM

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



Diseases related to Osteofibrous Dysplasia

Symptoms & Phenotypes for Osteofibrous Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Limbs:
pseudoarthrosis of fibula
fibrous stroma with spicules of osseous trabeculae rimmed with osteoblasts on histology
pseudoarthrosis of tibia
fibular hypoplasia (in some patients)
pathologic fractures through sites of lytic lesions
more
Chest- External Features:
pectus excavatum (in some patients)


Clinical features from OMIM:

607278

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 VIM MET MUC1 NF1

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 KRT5 MET NF1 SPARC SPP1 TGFB1
2 behavior/neurological MP:0005386 10.23 CD36 GNAS KRT5 MET NF1 SPARC
3 cardiovascular system MP:0005385 10.22 BMP2 CD36 GNAS KRT1 MET NF1
4 homeostasis/metabolism MP:0005376 10.21 MET NF1 SPARC SPP1 TGFB1 VIM
5 immune system MP:0005387 10.19 BMP2 CD36 GNAS KRT1 MET NF1
6 hematopoietic system MP:0005397 10.18 BMP2 CD36 GNAS KRT1 NF1 SPARC
7 craniofacial MP:0005382 10.16 KRT5 MET NF1 SPARC SPP1 TGFB1
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 GNAS KRT1 KRT5 NF1 SPARC SPP1
11 limbs/digits/tail MP:0005371 9.93 BMP2 GNAS KRT5 MET NF1 SPARC
12 liver/biliary system MP:0005370 9.91 CD36 GNAS TGFB1 MET NF1 SPP1
13 muscle MP:0005369 9.91 CD36 GNAS MET NF1 SPP1 TGFB1
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 GNAS MET NF1 SPP1 TGFB1 VIM
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

Genetic tests related to Osteofibrous Dysplasia:

id Genetic test Affiliating Genes
1 Osteofibrous Dysplasia 29

Anatomical Context for Osteofibrous Dysplasia

MalaCards organs/tissues related to Osteofibrous Dysplasia:

39
Bone, Cortex

Publications for Osteofibrous Dysplasia

Articles related to Osteofibrous Dysplasia:

(show top 50) (show all 87)
id Title Authors Year
1
Does osteofibrous dysplasia progress to adamantinoma and how should they be treated? ( 28249983 )
2017
2
Osteofibrous Dysplasia Versus Ossifying Fibroma: Semantic Confusion. ( 28238823 )
2017
3
Bilateral Tibial Osteofibrous Dysplasia on 18F-FDG PET/CT. ( 28525454 )
2017
4
Osteofibrous dysplasia of clavicle clinically mimicking chronic osteomyelitis. ( 27413281 )
2016
5
Management of Large Maxillomandibular Osteofibrous Dysplasia as Part of a Humanitarian Mission. ( 27837651 )
2016
6
Long-term outcome following treatment of Adamantinoma and Osteofibrous dysplasia of long bones. ( 27745864 )
2016
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
Autologous mesenchymal stem cell (MSCs) transplantation for critical-sized bone defect following a wide excision of osteofibrous dysplasia. ( 26599503 )
2015
10
Osteofibrous Dysplasia managed with Extraperiosteal excision, Autologous free fibular graft and bone graft substitute. ( 27299018 )
2015
11
Osteofibrous Dysplasia-like Adamantinoma of the Tibia in a 15-Year-Old Girl. ( 26447423 )
2015
12
MR findings of the osteofibrous dysplasia. ( 24497800 )
2014
13
Imaging in osteofibrous dysplasia, osteofibrous dysplasia-like adamantinoma, and classic adamantinoma. ( 24199850 )
2014
14
Congenital Osteofibrous Dysplasia Campanacci: Spontaneous Postbioptic Regression. ( 23774157 )
2013
15
Neonatal osteofibrous dysplasia associated with pathological tibia fracture: a case report and review of the literature. ( 21383639 )
2012
16
Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones. ( 21983933 )
2012
17
Osteofibrous dysplasia: A case report and review of the literature. ( 27307931 )
2011
18
Marginal excision and Ilizarov hemicallotasis for osteofibrous dysplasia of the tibia: a case report. ( 21164362 )
2011
19
Is there a link between osteofibrous dysplasia and adamantinoma? ( 22079612 )
2011
20
Podoplanin expression in adamantinoma of long bones and osteofibrous dysplasia. ( 21499851 )
2011
21
Osteofibrous dysplasia and adamantinoma. ( 20511441 )
2010
22
Minimally invasive plate osteosynthesis for osteofibrous dysplasia of the tibia: a case report. ( 21187556 )
2010
23
Congenital osteofibrous dysplasia of the tibia, associated with pseudoarthrosis of the ipsilateral fibula. ( 18946584 )
2008
24
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
25
Osteofibrous dysplasia and adamantinoma in children and adolescents: a clinicopathologic reappraisal. ( 18300815 )
2008
26
Frequent immunoexpression of TGF-beta1, FGF-2 and BMP-2 in fibroblast-like cells in osteofibrous dysplasia. ( 17273729 )
2007
27
Treatment of osteofibrous dysplasia and associated lesions. ( 17594160 )
2007
28
Osteofibrous dysplasia of the tibia. ( 17259434 )
2007
29
Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula. ( 16944141 )
2007
30
Osteofibrous dysplasia of the tibia. Is there a need for a radical surgical approach? ( 16645116 )
2006
31
A classic adamantinoma arising from osteofibrous dysplasia-like adamantinoma in the lower leg: a case report and review of the literature. ( 16636523 )
2006
32
Effective analgesia with tramadol for osteofibrous dysplasia refractory to NSAID medication. ( 16005174 )
2005
33
Familial osteofibrous dysplasia. A case series. ( 16203897 )
2005
34
Osteofibrous dysplasia treated with distraction osteogenesis: a report of two cases. ( 15449128 )
2004
35
Giant osteofibrous dysplasia (ossifying fibroma) of the tibia: case report and review of treatment modalities. ( 18521395 )
2004
36
Osteofibrous dysplasia and adamantinoma: correlation of proto-oncogene product and matrix protein expression. ( 14745727 )
2004
37
Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia. ( 15258702 )
2004
38
Osteofibrous dysplasia in a Japanese boy with Costello syndrome. ( 14564166 )
2003
39
Osteofibrous dysplasia: a review of the literature and presentation of an additional 3 cases. ( 14620087 )
2003
40
Classic adamantinoma with osteofibrous dysplasia-like foci and secondary aneurysmal bone cyst. ( 12574919 )
2003
41
Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma. ( 12679847 )
2003
42
CD99 positive adamantinoma of the ulna with ipsilateral discrete osteofibrous dysplasia. ( 12616068 )
2003
43
Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement. ( 12239726 )
2002
44
Osteofibrous dysplasia of the ulna. ( 11764436 )
2001
45
Comparative study of fibrous dysplasia and osteofibrous dysplasia: histopathological, immunohistochemical, argyrophilic nucleolar organizer region and DNA ploidy analysis. ( 11564214 )
2001
46
Immunoexpression of neurofibromin, S-100 protein, and leu-7 and mutation analysis of the NF1 gene at codon 1423 in osteofibrous dysplasia. ( 11727265 )
2001
47
Osteofibrous dysplasia of the ulna. ( 11793188 )
2001
48
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
49
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
50
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

Variations for Osteofibrous Dysplasia

ClinVar genetic disease variations for Osteofibrous Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MET NM_001127500.2(MET): c.3064_3082+8del deletion risk factor rs869320706 GRCh37 Chromosome 7, 116412025: 116412051
2 MET NM_001127500.2(MET): c.3082+1G> T single nucleotide variant risk factor rs869320707 GRCh37 Chromosome 7, 116412044: 116412044

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
13.58 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 10.78 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 space GO:0005615 9.56 BGLAP BMP2 CD36 KRT1 MUC1 SPARC
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 region GO:0005576 9.28 BGLAP BMP2 GNAS KRT1 MET MUC1

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

(show all 22)
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 9.78 BGLAP BMP2 GNAS
3 positive regulation of gene expression GO:0010628 9.76 BMP2 TGFB1 VIM
4 platelet degranulation GO:0002576 9.75 CD36 SPARC TGFB1
5 wound healing GO:0042060 9.73 NF1 SPARC TGFB1
6 female pregnancy GO:0007565 9.72 GNAS MUC1 TGFB1
7 ossification GO:0001503 9.71 BGLAP BMP2 SPARC
8 SMAD protein signal transduction GO:0060395 9.65 BMP2 TGFB1 VIM
9 bone development GO:0060348 9.63 BGLAP GNAS SPARC
10 positive regulation of pri-miRNA transcription from RNA polymerase II promoter GO:1902895 9.6 BMP2 TGFB1
11 establishment of skin barrier GO:0061436 9.59 KRT1 MET
12 inner ear development GO:0048839 9.58 BMP2 SPARC TGFB1
13 pathway-restricted SMAD protein phosphorylation GO:0060389 9.57 BMP2 TGFB1
14 response to hypoxia GO:0001666 9.56 BMP2 MUC1 NF1 TGFB1
15 response to gravity GO:0009629 9.52 BGLAP SPARC
16 regulation of bone resorption GO:0045124 9.51 BGLAP NF1
17 osteoblast differentiation GO:0001649 9.46 BGLAP BMP2 NF1 SPP1
18 negative regulation of neuroblast proliferation GO:0007406 9.43 NF1 TGFB1
19 positive regulation of odontogenesis GO:0042482 9.37 BMP2 TGFB1
20 negative regulation of transcription factor import into nucleus GO:0042992 9.32 CD36 NF1
21 response to vitamin D GO:0033280 9.13 BGLAP SPP1 TGFB1
22 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 extracellular matrix binding GO:0050840 8.62 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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