MCID: OST032
MIFTS: 50

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 57 53 59 75 29 55 6 73
Ofd 57 59 75
Jaffe-Campanacci Syndrome 53 73
Ossifying Fibroma 53 73
Osfd 57 75
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 57
Bowing of Tibia with Pseudarthrosis and Pectus Excavatum 75
Dysplasia, Osteofibrous, Susceptibility to 40
Osteofibrous Dysplasia, Susceptibility to 57
Intracortical Fibrous Dysplasia 53

Characteristics:

OMIM:

57
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:

32
osteofibrous dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 607278
Orphanet 59 ORPHA488265
MeSH 44 D001848
SNOMED-CT via HPO 69 263681008 391987005

Summaries for Osteofibrous Dysplasia

OMIM : 57 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 sarcoma, synovial. 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 : 53 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 : 75 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 : 76 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 124)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia 30.6 BGLAP GNAS SPARC
2 sarcoma, synovial 29.6 MET MUC1 VIM
3 juvenile ossifying fibroma 12.6
4 mohr syndrome 11.8
5 fibromatosis multiple non ossifying 11.8
6 orofaciodigital syndrome xi 11.6
7 orofaciodigital syndrome i 11.4
8 orofaciodigital syndrome iv 11.2
9 orofaciodigital syndrome 11.2
10 orofaciodigital syndrome v 11.1
11 orofaciodigital syndrome x 11.0
12 orofaciodigital syndrome iii 11.0
13 orofaciodigital syndrome ix 11.0
14 orofaciodigital syndrome viii 11.0
15 orofaciodigital syndrome xiv 10.9
16 orofaciodigital syndrome vi 10.9
17 orofaciodigital syndrome xv 10.9
18 orofaciodigital syndrome xvi 10.9
19 orofaciodigital syndrome 13 10.9
20 fibrosarcomatous osteosarcoma 10.8 BGLAP SPARC
21 orofaciodigital syndrome vii 10.8
22 orofaciodigital syndrome xvii 10.8
23 orofaciodigital syndrome xviii 10.8
24 orofaciodigital syndrome 12 10.8
25 periosteal osteogenic sarcoma 10.7 BGLAP SPARC
26 tooth ankylosis 10.6 BMP2 SPARC
27 ichthyosis hystrix, curth-macklin type 10.6 KRT1 KRT5
28 hemarthrosis 10.6 BGLAP SPP1
29 tympanosclerosis 10.6 BMP2 SPP1
30 hypophosphatasia, adult 10.5 BGLAP SPP1
31 retroperitoneal fibrosis 10.5 SPP1 VIM
32 ependymoblastoma 10.5 MET VIM
33 papillary cystadenocarcinoma 10.5 BGLAP SPARC SPP1
34 brittle bone disorder 10.5 BGLAP CD36 SPARC
35 papillary adenoma 10.4 KRT5 VIM
36 amyloid tumor 10.4 NF1 SPARC
37 osteitis fibrosa 10.4 BGLAP GNAS
38 odontoma 10.4 KRT5 VIM
39 pilocytic astrocytoma of cerebellum 10.4 GNAS NF1
40 bile duct mucoepidermoid carcinoma 10.3 KRT5 MUC1
41 middle ear adenoma 10.3 KRT5 MUC1
42 ossifying fibroma 10.3
43 aortic valve disease 2 10.3 BMP2 SPARC SPP1
44 apocrine adenocarcinoma 10.3 KRT5 MUC1
45 epithelioid malignant peripheral nerve sheath tumor 10.3 MUC1 NF1
46 bone giant cell tumor 10.3 SPP1 VIM
47 bone resorption disease 10.3 BGLAP BMP2 SPP1
48 adamantinoma of long bones 10.2
49 neurofibromatosis, type i 10.2
50 neurofibromatosis, type iv, of riccardi 10.2

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:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (in some patients)

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

Clinical features from OMIM:

607278

Human phenotypes related to Osteofibrous Dysplasia:

32
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 occasional (7.5%) HP:0000767
2 fibular hypoplasia 32 occasional (7.5%) HP:0003038

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

26
# 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:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 NF1 SPARC SPP1 TGFB1 BMP2 CD36
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 NF1 SPARC SPP1 TGFB1 BMP2 GNAS
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 MET NF1 SPP1 TGFB1 VIM BMP2
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 SPARC SPP1 TGFB1 GNAS MET NF1
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 SPARC TGFB1 VIM CD36 MET NF1

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 29 MET

Anatomical Context for Osteofibrous Dysplasia

MalaCards organs/tissues related to Osteofibrous Dysplasia:

41
Bone, Cortex

Publications for Osteofibrous Dysplasia

Articles related to Osteofibrous Dysplasia:

(show top 50) (show all 90)
# 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
Does osteofibrous dysplasia progress to adamantinoma and how should they be treated? ( 28249983 )
2017
4
Bilateral Tibial Osteofibrous Dysplasia on 18F-FDG PET/CT. ( 28525454 )
2017
5
Osteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection. ( 29227372 )
2017
6
Osteofibrous Dysplasia Versus Ossifying Fibroma: Semantic Confusion. ( 28238823 )
2017
7
Long-term outcome following treatment of Adamantinoma and Osteofibrous dysplasia of long bones. ( 27745864 )
2016
8
Management of Large Maxillomandibular Osteofibrous Dysplasia as Part of a Humanitarian Mission. ( 27837651 )
2016
9
Osteofibrous dysplasia of clavicle clinically mimicking chronic osteomyelitis. ( 27413281 )
2016
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
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. ( 26637977 )
2015
13
Osteofibrous dysplasia-like adamantinoma in a 3-month-old male infant: a case report. ( 26012944 )
2015
14
Autologous mesenchymal stem cell (MSCs) transplantation for critical-sized bone defect following a wide excision of osteofibrous dysplasia. ( 26599503 )
2015
15
MR findings of the osteofibrous dysplasia. ( 24497800 )
2014
16
Imaging in osteofibrous dysplasia, osteofibrous dysplasia-like adamantinoma, and classic adamantinoma. ( 24199850 )
2014
17
Congenital Osteofibrous Dysplasia Campanacci: Spontaneous Postbioptic Regression. ( 23774157 )
2013
18
Neonatal osteofibrous dysplasia associated with pathological tibia fracture: a case report and review of the literature. ( 21383639 )
2012
19
Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones. ( 21983933 )
2012
20
Is there a link between osteofibrous dysplasia and adamantinoma? ( 22079612 )
2011
21
Podoplanin expression in adamantinoma of long bones and osteofibrous dysplasia. ( 21499851 )
2011
22
Osteofibrous dysplasia: A case report and review of the literature. ( 27307931 )
2011
23
Marginal excision and Ilizarov hemicallotasis for osteofibrous dysplasia of the tibia: a case report. ( 21164362 )
2011
24
Osteofibrous dysplasia and adamantinoma. ( 20511441 )
2010
25
Minimally invasive plate osteosynthesis for osteofibrous dysplasia of the tibia: a case report. ( 21187556 )
2010
26
Osteofibrous dysplasia and adamantinoma in children and adolescents: a clinicopathologic reappraisal. ( 18300815 )
2008
27
Congenital osteofibrous dysplasia of the tibia, associated with pseudoarthrosis of the ipsilateral fibula. ( 18946584 )
2008
28
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
29
Osteofibrous dysplasia of the tibia. ( 17259434 )
2007
30
Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula. ( 16944141 )
2007
31
Frequent immunoexpression of TGF-beta1, FGF-2 and BMP-2 in fibroblast-like cells in osteofibrous dysplasia. ( 17273729 )
2007
32
Treatment of osteofibrous dysplasia and associated lesions. ( 17594160 )
2007
33
Osteofibrous dysplasia of the tibia. Is there a need for a radical surgical approach? ( 16645116 )
2006
34
A classic adamantinoma arising from osteofibrous dysplasia-like adamantinoma in the lower leg: a case report and review of the literature. ( 16636523 )
2006
35
Familial osteofibrous dysplasia. A case series. ( 16203897 )
2005
36
Effective analgesia with tramadol for osteofibrous dysplasia refractory to NSAID medication. ( 16005174 )
2005
37
Giant osteofibrous dysplasia (ossifying fibroma) of the tibia: case report and review of treatment modalities. ( 18521395 )
2004
38
Osteofibrous dysplasia treated with distraction osteogenesis: a report of two cases. ( 15449128 )
2004
39
Osteofibrous dysplasia and adamantinoma: correlation of proto-oncogene product and matrix protein expression. ( 14745727 )
2004
40
Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia. ( 15258702 )
2004
41
Classic adamantinoma with osteofibrous dysplasia-like foci and secondary aneurysmal bone cyst. ( 12574919 )
2003
42
CD99 positive adamantinoma of the ulna with ipsilateral discrete osteofibrous dysplasia. ( 12616068 )
2003
43
Osteofibrous dysplasia: a review of the literature and presentation of an additional 3 cases. ( 14620087 )
2003
44
Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma. ( 12679847 )
2003
45
Osteofibrous dysplasia in a Japanese boy with Costello syndrome. ( 14564166 )
2003
46
Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement. ( 12239726 )
2002
47
Immunoexpression of neurofibromin, S-100 protein, and leu-7 and mutation analysis of the NF1 gene at codon 1423 in osteofibrous dysplasia. ( 11727265 )
2001
48
Osteofibrous dysplasia of the ulna. ( 11764436 )
2001
49
Comparative study of fibrous dysplasia and osteofibrous dysplasia: histopathological, immunohistochemical, argyrophilic nucleolar organizer region and DNA ploidy analysis. ( 11564214 )
2001
50
Osteofibrous dysplasia of the ulna. ( 11793188 )
2001

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.3064_3082+8del deletion risk factor rs869320706 GRCh37 Chromosome 7, 116412025: 116412051
2 MET NM_001127500.2(MET): c.3064_3082+8del deletion risk factor rs869320706 GRCh38 Chromosome 7, 116771971: 116771997
3 MET NM_001127500.2(MET): c.3082+1G> T single nucleotide variant risk factor rs869320707 GRCh37 Chromosome 7, 116412044: 116412044
4 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 BMP2 GNAS MET MUC1 NF1 SPP1
2
Show member pathways
13.25 CD36 KRT1 KRT5 MET NF1 TGFB1
3
Show member pathways
13.02 CD36 MET MUC1 NF1 TGFB1 VIM
4
Show member pathways
12.77 BMP2 GNAS MET SPP1 TGFB1
5
Show member pathways
12.5 BMP2 SPARC SPP1 TGFB1
6 11.82 MET TGFB1 VIM
7
Show member pathways
11.61 KRT1 KRT5 VIM
8 11.57 BMP2 SPARC TGFB1
9 11.47 GNAS KRT1 TGFB1
10 11.12 CD36 MET TGFB1
11 11 BGLAP MET SPP1
12 10.98 CD36 MUC1 TGFB1 VIM
13 10.86 BMP2 TGFB1
14 10.77 TGFB1 VIM
15 10.73 MET TGFB1
16 10.72 BGLAP GNAS SPP1

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 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.89 BMP2 CD36 TGFB1 VIM
2 cytokine-mediated signaling pathway GO:0019221 9.87 CD36 MUC1 TGFB1 VIM
3 heart development GO:0007507 9.81 BMP2 NF1 SPARC TGFB1
4 response to hypoxia GO:0001666 9.8 BMP2 NF1 TGFB1
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 BMP2 CD36 MET TGFB1
6 positive regulation of MAPK cascade GO:0043410 9.78 BMP2 CD36 MET
7 skeletal system development GO:0001501 9.77 BGLAP BMP2 GNAS
8 platelet degranulation GO:0002576 9.76 CD36 SPARC TGFB1
9 wound healing GO:0042060 9.73 NF1 SPARC TGFB1
10 ossification GO:0001503 9.72 BGLAP BMP2 SPARC
11 SMAD protein signal transduction GO:0060395 9.65 BMP2 TGFB1 VIM
12 regulation of MAPK cascade GO:0043408 9.63 BMP2 NF1 TGFB1
13 positive regulation of collagen biosynthetic process GO:0032967 9.62 TGFB1 VIM
14 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.61 BMP2 TGFB1
15 bone development GO:0060348 9.61 BGLAP GNAS SPARC
16 pathway-restricted SMAD protein phosphorylation GO:0060389 9.58 BMP2 TGFB1
17 regulation of bone resorption GO:0045124 9.54 BGLAP NF1
18 inner ear development GO:0048839 9.54 BMP2 SPARC TGFB1
19 response to gravity GO:0009629 9.52 BGLAP SPARC
20 osteoblast differentiation GO:0001649 9.46 BGLAP BMP2 NF1 SPP1
21 negative regulation of neuroblast proliferation GO:0007406 9.4 NF1 TGFB1
22 obsolete negative regulation of transcription factor import into nucleus GO:0042992 9.32 CD36 NF1
23 positive regulation of odontogenesis GO:0042482 9.26 BMP2 TGFB1
24 response to vitamin D GO:0033280 9.13 BGLAP SPP1 TGFB1
25 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 BMP receptor binding GO:0070700 8.62 BMP2 TGFB1

Sources for Osteofibrous Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....