OSFD
MCID: OST032
MIFTS: 52

Osteofibrous Dysplasia (OSFD)

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

Aliases & Classifications for Osteofibrous Dysplasia

MalaCards integrated aliases for Osteofibrous Dysplasia:

Name: Osteofibrous Dysplasia 58 54 60 76 30 56 6 74
Ofd 58 60 76
Jaffe-Campanacci Syndrome 54 74
Ossifying Fibroma 54 74
Osfd 58 76
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 58
Bowing of Tibia with Pseudarthrosis and Pectus Excavatum 76
Dysplasia, Osteofibrous, Susceptibility to 41
Osteofibrous Dysplasia, Susceptibility to 58
Intracortical Fibrous Dysplasia 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
osteofibrous dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 607278
MeSH 45 D001848
Orphanet 60 ORPHA488265

Summaries for Osteofibrous Dysplasia

OMIM : 58 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 ofd, is related to fibrous dysplasia and pseudoarthrosis. 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 Developmental Biology. Affiliated tissues include bone and cortex, and related phenotypes are pectus excavatum and fibular hypoplasia

NIH Rare Diseases : 54 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. 

UniProtKB/Swiss-Prot : 76 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 : 77 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 167)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia 30.7 BGLAP GNAS SPARC
2 pseudoarthrosis 30.6 BMP2 NF1
3 odontoma 29.9 KRT5 VIM
4 sarcoma, synovial 29.9 MET MUC1 VIM
5 spindle cell sarcoma 29.8 MUC1 VIM
6 giant cell tumor 29.7 BGLAP MUC1 VIM
7 juvenile ossifying fibroma 12.7
8 mohr syndrome 12.0
9 orofaciodigital syndrome xi 11.8
10 orofaciodigital syndrome i 11.6
11 hyperparathyroidism 2 with jaw tumors 11.6
12 orofaciodigital syndrome ix 11.5
13 orofaciodigital syndrome 11.5
14 gigantiform cementoma, familial 11.5
15 orofaciodigital syndrome iv 11.4
16 encephalocraniocutaneous lipomatosis 11.3
17 orofaciodigital syndrome v 11.3
18 orofaciodigital syndrome x 11.2
19 orofaciodigital syndrome iii 11.2
20 orofaciodigital syndrome viii 11.2
21 orofaciodigital syndrome xiv 11.1
22 orofaciodigital syndrome vi 11.1
23 orofaciodigital syndrome xv 11.1
24 orofaciodigital syndrome xvi 11.1
25 orofaciodigital syndrome xvii 11.1
26 orofaciodigital syndrome xviii 11.1
27 orofaciodigital syndrome 13 11.1
28 orofaciodigital syndrome vii 11.0
29 orofaciodigital syndrome 12 11.0
30 fibroma 10.5
31 ossifying fibroma 10.5
32 adamantinoma of long bones 10.4
33 conventional central osteosarcoma 10.4 BGLAP SPARC
34 bone osteosarcoma 10.4 BGLAP SPARC
35 pyogenic granuloma 10.3
36 tooth ankylosis 10.3 BMP2 SPARC
37 lipomatosis 10.3
38 growth hormone deficiency 10.3
39 periosteal osteogenic sarcoma 10.3 BGLAP SPARC
40 ichthyosis hystrix, curth-macklin type 10.3 KRT1 KRT5
41 hemarthrosis 10.3 BGLAP SPP1
42 tympanosclerosis 10.3 BMP2 SPP1
43 joubert syndrome 1 10.3
44 hypophosphatasia, adult 10.3 BGLAP SPP1
45 ossification of the posterior longitudinal ligament of spine 10.3 BGLAP BMP2
46 papillary cystadenocarcinoma 10.2 BGLAP SPARC SPP1
47 bile duct mucoepidermoid carcinoma 10.2 KRT5 MUC1
48 middle ear adenoma 10.2 KRT5 MUC1
49 hyperparathyroidism 10.2
50 apocrine adenocarcinoma 10.2 KRT5 MUC1

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



Diseases related to Osteofibrous Dysplasia

Symptoms & Phenotypes for Osteofibrous Dysplasia

Human phenotypes related to Osteofibrous Dysplasia:

33
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 occasional (7.5%) HP:0000767
2 fibular hypoplasia 33 occasional (7.5%) HP:0003038
3 pseudoarthrosis 33 HP:0005864

Symptoms via clinical synopsis from OMIM:

58
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (in some patients)

Skeletal Limbs:
bowing of tibia
lytic lesions in tibial shaft, with sclerotic border
lytic lesions in fibular shaft, with sclerotic border
fibular hypoplasia (in some patients)
pathologic fractures through sites of lytic lesions
more

Clinical features from OMIM:

607278

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

27
# 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:

47 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 BMP2 CD36 GNAS KRT1 KRT5 MET
2 behavior/neurological MP:0005386 10.24 CD36 GNAS KRT5 MET NF1 SPARC
3 cardiovascular system MP:0005385 10.23 BMP2 CD36 GNAS KRT1 MET NF1
4 homeostasis/metabolism MP:0005376 10.22 BMP2 CD36 GNAS KRT1 MET NF1
5 immune system MP:0005387 10.21 BMP2 CD36 GNAS KRT1 MET NF1
6 hematopoietic system MP:0005397 10.19 BMP2 CD36 GNAS KRT1 NF1 SPARC
7 craniofacial MP:0005382 10.17 BMP2 GNAS KRT5 MET NF1 SPARC
8 mortality/aging MP:0010768 10.13 BMP2 CD36 GNAS KRT1 KRT5 MET
9 integument MP:0010771 10.04 GNAS KRT1 KRT5 NF1 SPARC SPP1
10 digestive/alimentary MP:0005381 10.03 BMP2 CD36 KRT5 MET NF1 TGFB1
11 nervous system MP:0003631 9.97 BMP2 CD36 GNAS KRT1 MET NF1
12 limbs/digits/tail MP:0005371 9.95 BMP2 GNAS KRT5 MET NF1 SPARC
13 muscle MP:0005369 9.95 CD36 GNAS MET NF1 SPP1 TGFB1
14 liver/biliary system MP:0005370 9.93 CD36 GNAS MET NF1 SPP1 TGFB1
15 neoplasm MP:0002006 9.85 GNAS MET NF1 SPARC SPP1 TGFB1
16 renal/urinary system MP:0005367 9.73 CD36 GNAS MET NF1 SPP1 TGFB1
17 respiratory system MP:0005388 9.63 GNAS MET NF1 SPP1 TGFB1 VIM
18 skeleton MP:0005390 9.5 BMP2 CD36 GNAS NF1 SPARC SPP1
19 vision/eye MP:0005391 9.1 CD36 MET NF1 SPARC TGFB1 VIM

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:

# Genetic test Affiliating Genes
1 Osteofibrous Dysplasia 30

Anatomical Context for Osteofibrous Dysplasia

MalaCards organs/tissues related to Osteofibrous Dysplasia:

42
Bone, Cortex

Publications for Osteofibrous Dysplasia

Articles related to Osteofibrous Dysplasia:

(show top 50) (show all 119)
# Title Authors Year
1
Paediatric osteofibrous dysplasia-like adamantinoma with classical radiological findings. ( 29764850 )
2018
2
Optimal Treatment of Osteofibrous Dysplasia of the Tibia. ( 29782394 )
2018
3
Osteofibrous Dysplasia with Rhabdoid Elements in a 38-Year-Old Man with Spontaneous Regression Over Five Years: A Case Report. ( 29995665 )
2018
4
Extraperiosteal segmental excision for osteofibrous dysplasia of tibia with reconstruction by liquid nitrogen-treated recycled autograft. ( 30389310 )
2018
5
Giant monostotic osteofibrous dysplasia of the ilium: A case report and review of literature. ( 30510951 )
2018
6
Osteofibrous dysplasia arising in the humerus: A case report. ( 30542521 )
2018
7
Oral-facial-digital syndrome (OFD): 31-year follow-up management and monitoring. ( 29460530 )
2018
8
Telescopic overdenture on natural teeth: prosthetic rehabilitation on (OFD) syndromic patient and a review on available literature. ( 29460531 )
2018
9
Open-pore film drainage (OFD): a new multipurpose tool for endoscopic negative pressure therapy (ENPT). ( 29978007 )
2018
10
Does osteofibrous dysplasia progress to adamantinoma and how should they be treated? ( 28249983 )
2017
11
Bilateral Tibial Osteofibrous Dysplasia on 18F-FDG PET/CT. ( 28525454 )
2017
12
Osteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection. ( 29227372 )
2017
13
Osteofibrous Dysplasia Versus Ossifying Fibroma: Semantic Confusion. ( 28238823 )
2017
14
Long-term outcome following treatment of Adamantinoma and Osteofibrous dysplasia of long bones. ( 27745864 )
2016
15
Management of Large Maxillomandibular Osteofibrous Dysplasia as Part of a Humanitarian Mission. ( 27837651 )
2016
16
Osteofibrous dysplasia of clavicle clinically mimicking chronic osteomyelitis. ( 27413281 )
2016
17
Osteofibrous Dysplasia managed with Extraperiosteal excision, Autologous free fibular graft and bone graft substitute. ( 27299018 )
2015
18
Osteofibrous Dysplasia-like Adamantinoma of the Tibia in a 15-Year-Old Girl. ( 26447423 )
2015
19
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. ( 26637977 )
2015
20
Osteofibrous dysplasia-like adamantinoma in a 3-month-old male infant: a case report. ( 26012944 )
2015
21
Autologous mesenchymal stem cell (MSCs) transplantation for critical-sized bone defect following a wide excision of osteofibrous dysplasia. ( 26599503 )
2015
22
MR findings of the osteofibrous dysplasia. ( 24497800 )
2014
23
Imaging in osteofibrous dysplasia, osteofibrous dysplasia-like adamantinoma, and classic adamantinoma. ( 24199850 )
2014
24
Guided tissue regeneration (GTR) with bioabsorbable collagen membranes (CM) may generate more clinical attachment level gain than open flap debridement (OFD). ( 24581707 )
2014
25
Congenital Osteofibrous Dysplasia Campanacci: Spontaneous Postbioptic Regression. ( 23774157 )
2013
26
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. ( 23459408 )
2013
27
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. ( 23523602 )
2013
28
Distinction of Mohr's syndrome from OFD type I: case report and review of the literature. ( 24352311 )
2013
29
Neonatal osteofibrous dysplasia associated with pathological tibia fracture: a case report and review of the literature. ( 21383639 )
2012
30
Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones. ( 21983933 )
2012
31
Is there a link between osteofibrous dysplasia and adamantinoma? ( 22079612 )
2011
32
Podoplanin expression in adamantinoma of long bones and osteofibrous dysplasia. ( 21499851 )
2011
33
Osteofibrous dysplasia: A case report and review of the literature. ( 27307931 )
2011
34
Marginal excision and Ilizarov hemicallotasis for osteofibrous dysplasia of the tibia: a case report. ( 21164362 )
2011
35
Cerebral dysgenesis does not exclude OFD I syndrome. ( 21271673 )
2011
36
GLI3 is rarely implicated in OFD syndromes with midline abnormalities. ( 21796731 )
2011
37
Osteofibrous dysplasia and adamantinoma. ( 20511441 )
2010
38
Minimally invasive plate osteosynthesis for osteofibrous dysplasia of the tibia: a case report. ( 21187556 )
2010
39
Osteofibrous dysplasia and adamantinoma in children and adolescents: a clinicopathologic reappraisal. ( 18300815 )
2008
40
Congenital osteofibrous dysplasia of the tibia, associated with pseudoarthrosis of the ipsilateral fibula. ( 18946584 )
2008
41
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
42
Osteofibrous dysplasia of the tibia. ( 17259434 )
2007
43
Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula. ( 16944141 )
2007
44
Frequent immunoexpression of TGF-beta1, FGF-2 and BMP-2 in fibroblast-like cells in osteofibrous dysplasia. ( 17273729 )
2007
45
Treatment of osteofibrous dysplasia and associated lesions. ( 17594160 )
2007
46
Osteofibrous dysplasia of the tibia. Is there a need for a radical surgical approach? ( 16645116 )
2006
47
A classic adamantinoma arising from osteofibrous dysplasia-like adamantinoma in the lower leg: a case report and review of the literature. ( 16636523 )
2006
48
Prenatal diagnosis of episodic tachypnea in an infant with OFD VI. ( 16906567 )
2006
49
Familial osteofibrous dysplasia. A case series. ( 16203897 )
2005
50
Effective analgesia with tramadol for osteofibrous dysplasia refractory to NSAID medication. ( 16005174 )
2005

Variations for Osteofibrous Dysplasia

ClinVar genetic disease variations for Osteofibrous Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MET NM_001127500.2(MET): c.406G> A (p.Val136Ile) single nucleotide variant Uncertain significance rs199701987 GRCh37 Chromosome 7, 116339544: 116339544
2 MET NM_001127500.2(MET): c.406G> A (p.Val136Ile) single nucleotide variant Uncertain significance rs199701987 GRCh38 Chromosome 7, 116699490: 116699490
3 MET NM_001127500.2(MET): c.3064_3082+8del deletion risk factor rs869320706 GRCh37 Chromosome 7, 116412025: 116412051
4 MET NM_001127500.2(MET): c.3064_3082+8del deletion risk factor rs869320706 GRCh38 Chromosome 7, 116771971: 116771997
5 MET NM_001127500.2(MET): c.3082+1G> T single nucleotide variant risk factor rs869320707 GRCh37 Chromosome 7, 116412044: 116412044
6 MET NM_001127500.2(MET): c.3082+1G> T single nucleotide variant risk factor rs869320707 GRCh38 Chromosome 7, 116771990: 116771990

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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 BMP2 GNAS MET MUC1 NF1 SPP1
2
Show member pathways
13.26 CD36 KRT1 KRT5 MET NF1 TGFB1
3
Show member pathways
13.02 CD36 MET MUC1 NF1 TGFB1 VIM
4
Show member pathways
12.78 BMP2 GNAS MET SPP1 TGFB1
5
Show member pathways
12.51 BMP2 SPARC SPP1 TGFB1
6 11.82 MET TGFB1 VIM
7
Show member pathways
11.67 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 10.92 BGLAP GNAS SPP1
14 10.87 BMP2 TGFB1
15 10.79 TGFB1 VIM
16 10.74 MET TGFB1
17 10 BMP2 GNAS MET SPP1 TGFB1 VIM

GO Terms for Osteofibrous Dysplasia

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

# 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 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.91 BMP2 CD36 TGFB1 VIM
2 cytokine-mediated signaling pathway GO:0019221 9.84 CD36 MUC1 TGFB1 VIM
3 regulation of cell proliferation GO:0042127 9.8 NF1 SPARC TGFB1
4 response to hypoxia GO:0001666 9.8 BMP2 NF1 TGFB1
5 skeletal system development GO:0001501 9.79 BGLAP BMP2 GNAS
6 heart development GO:0007507 9.78 BMP2 NF1 SPARC TGFB1
7 platelet degranulation GO:0002576 9.76 CD36 SPARC TGFB1
8 wound healing GO:0042060 9.73 NF1 SPARC TGFB1
9 ossification GO:0001503 9.72 BGLAP BMP2 SPARC
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.67 BMP2 CD36 TGFB1
11 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.63 BMP2 TGFB1
12 positive regulation of collagen biosynthetic process GO:0032967 9.62 TGFB1 VIM
13 regulation of MAPK cascade GO:0043408 9.61 BMP2 NF1 TGFB1
14 establishment of skin barrier GO:0061436 9.6 KRT1 MET
15 positive regulation of MAPK cascade GO:0043410 9.59 BMP2 CD36
16 pathway-restricted SMAD protein phosphorylation GO:0060389 9.58 BMP2 TGFB1
17 SMAD protein signal transduction GO:0060395 9.58 BMP2 TGFB1 VIM
18 negative regulation of protein import into nucleus GO:0042308 9.57 CD36 NF1
19 bone development GO:0060348 9.54 BGLAP GNAS SPARC
20 regulation of bone resorption GO:0045124 9.52 BGLAP NF1
21 response to gravity GO:0009629 9.51 BGLAP SPARC
22 inner ear development GO:0048839 9.5 BMP2 SPARC TGFB1
23 negative regulation of neuroblast proliferation GO:0007406 9.46 NF1 TGFB1
24 osteoblast differentiation GO:0001649 9.46 BGLAP BMP2 NF1 SPP1
25 positive regulation of odontogenesis GO:0042482 9.26 BMP2 TGFB1
26 response to vitamin D GO:0033280 9.13 BGLAP SPP1 TGFB1
27 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:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.4 BMP2 CD36 GNAS KRT1 KRT5 MET

Sources for Osteofibrous Dysplasia

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
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56 Novoseek
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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