OSFD
MCID: OST032
MIFTS: 52

Osteofibrous Dysplasia (OSFD)

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

Aliases & Classifications for Osteofibrous Dysplasia

MalaCards integrated aliases for Osteofibrous Dysplasia:

Name: Osteofibrous Dysplasia 57 20 58 72 29 54 6 70
Ofd 57 58 72
Jaffe-Campanacci Syndrome 20 70
Ossifying Fibroma 20 70
Osfd 57 72
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 57
Bowing of Tibia with Pseudarthrosis and Pectus Excavatum 72
Dysplasia, Osteofibrous, Susceptibility to 39
Osteofibrous Dysplasia, Susceptibility to 57
Intracortical Fibrous Dysplasia 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
osteofibrous dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 607278
MeSH 44 D001848
Orphanet 58 ORPHA488265
UMLS 70 C0206640 C0796000 C1709353

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) (Updated 20-May-2021)

MalaCards based summary : Osteofibrous Dysplasia, also known as ofd, is related to fibrous dysplasia and secretory meningioma. 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, cortex and breast, and related phenotypes are pectus excavatum and fibular hypoplasia

GARD : 20 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 : 72 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 : 73 Osteofibrous dysplasia is a rare, benign non-neoplastic condition with no known cause. It is considered... 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 345)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia 30.8 SPP1 SPARC GNAS BGLAP
2 secretory meningioma 30.4 VIM MUC1
3 odontoma 30.4 VIM KRT5
4 parathyroid adenoma 30.2 TGFB1 GNAS BGLAP
5 osteitis fibrosa 30.1 GNAS BGLAP
6 dedifferentiated liposarcoma 30.1 NF1 MUC1 MET
7 meningioma, familial 30.0 VIM SPARC NF1 MUC1
8 mccune-albright syndrome 30.0 SPARC GNAS BGLAP
9 neurofibroma 30.0 VIM NF1 MUC1
10 odontogenic myxoma 29.9 VIM CD36
11 osteogenic sarcoma 29.9 SPP1 SPARC BMP2 BGLAP
12 reticulum cell sarcoma 29.8 VIM MUC1
13 osteochondroma 29.6 VIM BMP2
14 bone disease 29.6 SPP1 SPARC CD36 BMP2 BGLAP
15 chondrosarcoma 29.5 VIM SPARC MUC1 MET BMP2
16 sarcoma, synovial 29.1 VIM NF1 MUC1 MET KRT1
17 osteochondrodysplasia 29.0 SPP1 SPARC NF1 GNAS BMP2 BGLAP
18 juvenile ossifying fibroma 11.7
19 orofaciodigital syndrome 11.5
20 hyperparathyroidism 2 with jaw tumors 11.5
21 gigantiform cementoma, familial 11.4
22 orofaciodigital syndrome iv 11.3
23 orofaciodigital syndrome i 11.0
24 mohr syndrome 10.9
25 orofaciodigital syndrome v 10.9
26 orofaciodigital syndrome xi 10.9
27 orofaciodigital syndrome x 10.9
28 orofaciodigital syndrome iii 10.9
29 orofaciodigital syndrome ix 10.9
30 orofaciodigital syndrome viii 10.9
31 orofaciodigital syndrome 13 10.9
32 exophthalmos 10.7
33 fibroma 10.6
34 overgrowth syndrome 10.6
35 ossifying fibroma 10.6
36 gingival overgrowth 10.5
37 pyogenic granuloma 10.5
38 hyperparathyroidism 10.5
39 epulis 10.4
40 adamantinoma of long bones 10.4
41 intracranial meningioma 10.4
42 lymphoplasmacyte-rich meningioma 10.4
43 giant cell reparative granuloma 10.3
44 polydactyly 10.3
45 adult malignant schwannoma 10.3 SPP1 NF1
46 root resorption 10.3
47 fibrosarcomatous osteosarcoma 10.3 SPARC BGLAP
48 extraosseous osteosarcoma 10.3 SPARC BGLAP
49 wiedemann-rautenstrauch syndrome 10.3 SPP1 BGLAP
50 joubert syndrome 1 10.3

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:

31
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 31 occasional (7.5%) HP:0000767
2 fibular hypoplasia 31 occasional (7.5%) HP:0003038
3 pseudoarthrosis 31 HP:0005864

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 8.62 MET VIM

MGI Mouse Phenotypes related to Osteofibrous Dysplasia:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10.29 BGLAP BMP2 CD36 GNAS KRT1 KRT5
2 homeostasis/metabolism MP:0005376 10.26 BGLAP BMP2 CD36 GNAS KRT1 MET
3 growth/size/body region MP:0005378 10.25 BMP2 CD36 GNAS KRT1 KRT5 MET
4 cardiovascular system MP:0005385 10.24 BMP2 CD36 GNAS KRT1 MET NF1
5 hematopoietic system MP:0005397 10.24 BGLAP BMP2 CD36 GNAS KRT1 NF1
6 cellular MP:0005384 10.23 BGLAP BMP2 CD36 GNAS MET NF1
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 9.56 BGLAP BMP2 CD36 GNAS NF1 SPARC
19 vision/eye MP:0005391 9.17 CD36 MET NF1 SPARC SPP1 TGFB1

Drugs & Therapeutics for Osteofibrous Dysplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Osteofibrous Dysplasia (Kempson-Campanacci's Disease): Long Term Follow-up Study on Natural History, Results of Treatment and Relationship With Adamantinoma Recruiting NCT04104763

Search 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:

40
Bone, Cortex, Breast, Kidney, Pancreas, Appendix, Eye

Publications for Osteofibrous Dysplasia

Articles related to Osteofibrous Dysplasia:

(show top 50) (show all 210)
# Title Authors PMID Year
1
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. 61 57 6
26637977 2015
2
Familial osteofibrous dysplasia. A case series. 61 6 57
16203897 2005
3
Bilateral osteofibrous dysplasia: a report of two cases and review of the literature. 61 6 57
9234973 1997
4
Familial congenital bowing of the tibia with pseudarthrosis and pectus excavatum: report of a kindred. 6 57
1270474 1976
5
Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones. 57 61
21983933 2012
6
Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement. 61 57
12239726 2002
7
Osteofibrous dysplasia: clinicopathologic study of 80 cases. 57 61
8276381 1993
8
Osteofibrous dysplasia of long bones a new clinical entity. 61 57
1024109 1976
9
Late-onset pseudarthrosis of the dysplastic tibia. 57
8245051 1993
10
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. 54 61
11272890 2000
11
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. 54 61
10667418 1999
12
Does the management of osteofibrous dysplasia of the tibia and fibula in children should be tailored to the extent and location of the lesion? A case control study investigating different surgical options. 61
33713873 2021
13
Osteofibrous dysplasia-like adamantinoma versus osteofibrous dysplasia in children: A case report of challenging diagnosis. 61
33592407 2021
14
Nitrogen Mediates Flowering Time and Nitrogen Use Efficiency via Floral Regulators in Rice. 61
33278354 2021
15
What's New in Pediatric Orthopaedic Tumor Surgery. 61
33027233 2021
16
OsFD4 promotes the rice floral transition via florigen activation complex formation in the shoot apical meristem. 61
32737885 2021
17
Recurrent adamantinoma of the mandible. 61
33293149 2020
18
Surgical Outcome and Oncological Survival of Osteofibrous Dysplasia-Like and Classic Adamantinomas: An International Multicenter Study of 318 Cases. 61
33027124 2020
19
[Tumor-like bony lesions of the skeleton]. 61
32840666 2020
20
Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia. 61
32662096 2020
21
Bilateral Symmetric Sporadic Osteofibrous Dysplasia: an Unusual Case. 61
33364726 2020
22
Osteofibrous dysplasia-like adamantinoma treated via intercalary segmental resection with partial cortex preservation using pedicled vascularized fibula graft: a case report. 61
32792007 2020
23
[Tumor-like bony lesions of the skeleton]. 61
32556370 2020
24
Outcome of osteofibrous dysplasia-like versus classic adamantinoma of long bones: a single-institution experience. 61
32677983 2020
25
Surgical Outcomes, Complications, and Long-Term Functionality for Free Vascularized Fibula Grafts in the Pediatric Population: A 17-Year Experience and Systematic Review of the Literature. 61
32088922 2020
26
Fibrous dysplasia limited to an ossicle. 61
32473859 2020
27
Osteofibrous Dysplasia in a Cockatiel (Nymphicus hollandicus). 61
32237687 2020
28
Growth hormone receptor promotes osteosarcoma cell growth and metastases. 61
31725956 2020
29
High SENP3 Expression Promotes Cell Migration, Invasion, and Proliferation by Modulating DNA Methylation of E-Cadherin in Osteosarcoma. 61
33030103 2020
30
Adamantinoma filling the medullary space of the tibia: A case report. 61
31516648 2019
31
Osteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection. 61
31393304 2019
32
Comprehensive Molecular Characterization of Adamantinoma and OFD-like Adamantinoma Bone Tumors. 61
31021853 2019
33
Extraperiosteal segmental excision for osteofibrous dysplasia of tibia with reconstruction by liquid nitrogen-treated recycled autograft. 61
30389310 2019
34
AMPH-1 As A Critical Tumor Suppressor That Inhibits Osteosarcoma Progression. 61
31819629 2019
35
Giant monostotic osteofibrous dysplasia of the ilium: A case report and review of literature. 61
30510951 2018
36
Optimal Treatment of Osteofibrous Dysplasia of the Tibia. 61
29782394 2018
37
Osteofibrous Dysplasia with Rhabdoid Elements in a 38-Year-Old Man with Spontaneous Regression Over Five Years: A Case Report. 61
29995665 2018
38
Paediatric osteofibrous dysplasia-like adamantinoma with classical radiological findings. 61
29764850 2018
39
Osteofibrous dysplasia arising in the humerus: A case report. 61
30542521 2018
40
Periostin expression in neoplastic and non-neoplastic diseases of bone and joint. 61
30202513 2018
41
Bilateral Tibial Osteofibrous Dysplasia on 18F-FDG PET/CT. 61
28525454 2017
42
Osteofibrous Dysplasia Versus Ossifying Fibroma: Semantic Confusion. 61
28238823 2017
43
The ferredoxin-dependent glutamate synthase (OsFd-GOGAT) participates in leaf senescence and the nitrogen remobilization in rice. 61
28012016 2017
44
Does osteofibrous dysplasia progress to adamantinoma and how should they be treated? 61
28249983 2017
45
Management of Large Maxillomandibular Osteofibrous Dysplasia as Part of a Humanitarian Mission. 61
27837651 2017
46
Interactions between Nitrogen and Silicon in Rice and Their Effects on Resistance toward the Brown Planthopper Nilaparvata lugens. 61
28167952 2017
47
Rice Ferredoxin-Dependent Glutamate Synthase Regulates Nitrogen-Carbon Metabolomes and Is Genetically Differentiated between japonica and indica Subspecies. 61
27677460 2016
48
Long-term outcome following treatment of Adamantinoma and Osteofibrous dysplasia of long bones. 61
27745864 2016
49
Sclerostin expression in bone tumours and tumour-like lesions. 61
26896083 2016
50
[Tumor-like lesions of bone]. 61
27216410 2016

Variations for Osteofibrous Dysplasia

ClinVar genetic disease variations for Osteofibrous Dysplasia:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MET NM_000245.4(MET):c.3028+1G>T SNV risk factor 225227 rs869320707 GRCh37: 7:116412044-116412044
GRCh38: 7:116771990-116771990
2 MET NM_000245.4(MET):c.3011_3028+9del Deletion risk factor 225226 rs869320706 GRCh37: 7:116412025-116412051
GRCh38: 7:116771971-116771997
3 MET NM_000245.4(MET):c.406G>A (p.Val136Ile) SNV Uncertain significance 142059 rs199701987 GRCh37: 7:116339544-116339544
GRCh38: 7:116699490-116699490
4 MET NM_000245.4(MET):c.142G>A (p.Ala48Thr) SNV Uncertain significance 454188 rs374050750 GRCh37: 7:116339280-116339280
GRCh38: 7:116699226-116699226
5 MET NM_000245.4(MET):c.143C>G (p.Ala48Gly) SNV Uncertain significance 411909 rs80256822 GRCh37: 7:116339281-116339281
GRCh38: 7:116699227-116699227
6 MET NM_000245.4(MET):c.762A>C (p.Glu254Asp) SNV Uncertain significance 568449 rs760278126 GRCh37: 7:116339900-116339900
GRCh38: 7:116699846-116699846
7 MET NM_000245.4(MET):c.799G>A (p.Glu267Lys) SNV Uncertain significance 411894 rs755954919 GRCh37: 7:116339937-116339937
GRCh38: 7:116699883-116699883
8 MET NM_000245.4(MET):c.1157T>G (p.Leu386Arg) SNV Uncertain significance 524881 rs1554379180 GRCh37: 7:116340295-116340295
GRCh38: 7:116700241-116700241
9 MET NM_000245.4(MET):c.1174C>A (p.Pro392Thr) SNV Uncertain significance 358684 rs886061943 GRCh37: 7:116340312-116340312
GRCh38: 7:116700258-116700258
10 MET NM_000245.4(MET):c.1444G>A (p.Asp482Asn) SNV Uncertain significance 216498 rs863224694 GRCh37: 7:116380055-116380055
GRCh38: 7:116740001-116740001
11 MET NM_000245.4(MET):c.1669A>G (p.Thr557Ala) SNV Uncertain significance 184358 rs374733251 GRCh37: 7:116381047-116381047
GRCh38: 7:116740993-116740993
12 MET NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) SNV Uncertain significance 524889 rs768188910 GRCh37: 7:116436039-116436039
GRCh38: 7:116795985-116795985
13 MET NM_000245.4(MET):c.103A>T (p.Met35Leu) SNV Uncertain significance 134646 rs375353223 GRCh37: 7:116339241-116339241
GRCh38: 7:116699187-116699187
14 MET NM_000245.4(MET):c.3842C>G (p.Ala1281Gly) SNV Uncertain significance 997610 GRCh37: 7:116435752-116435752
GRCh38: 7:116795698-116795698
15 MET NM_000245.4(MET):c.2318C>T (p.Pro773Leu) SNV Uncertain significance 411912 rs771333219 GRCh37: 7:116399498-116399498
GRCh38: 7:116759444-116759444
16 MET NM_000245.4(MET):c.1643C>T (p.Ser548Leu) SNV Uncertain significance 485767 rs767715328 GRCh37: 7:116381021-116381021
GRCh38: 7:116740967-116740967

Cosmic variations for Osteofibrous Dysplasia:

9 (show all 24)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM90465396 IDH1 bone,humerus,other,periosteal c.394C>T p.R132C 2:208248389-208248389 12
2 COSM112752563 IDH1 bone,humerus,other,periosteal c.395G>T p.R132L 2:208248388-208248388 12
3 COSM90465675 IDH1 bone,humerus,other,periosteal c.395G>T p.R132L 2:208248388-208248388 12
4 COSM103034000 IDH1 bone,humerus,other,periosteal c.395G>T p.R132L 2:208248388-208248388 12
5 COSM112752272 IDH1 bone,humerus,other,periosteal c.394C>T p.R132C 2:208248389-208248389 12
6 COSM103033796 IDH1 bone,humerus,other,periosteal c.394C>T p.R132C 2:208248389-208248389 12
7 COSM93630284 GNAS bone,humerus,fibrous dysplasia,NS c.*508G>A p.? 20:58909366-58909366 12
8 COSM93726301 GNAS bone,humerus,fibrous dysplasia,NS c.560G>A p.R187H 20:58909366-58909366 12
9 COSM87642939 GNAS bone,radius,fibrous dysplasia,NS c.94-401G>A p.? 20:58909366-58909366 12
10 COSM93701960 GNAS bone,radius,fibrous dysplasia,NS c.601C>T p.R201C 20:58909365-58909365 12
11 COSM93760887 GNAS bone,radius,fibrous dysplasia,NS c.2531G>A p.R844H 20:58909366-58909366 12
12 COSM93760866 GNAS bone,radius,fibrous dysplasia,NS c.2530C>T p.R844C 20:58909365-58909365 12
13 COSM93726285 GNAS bone,radius,fibrous dysplasia,NS c.559C>T p.R187C 20:58909365-58909365 12
14 COSM85345830 GNAS bone,radius,fibrous dysplasia,NS c.556C>T p.R186C 20:58909365-58909365 12
15 COSM89474843 GNAS bone,radius,fibrous dysplasia,NS c.*504C>T p.? 20:58909365-58909365 12
16 COSM93086636 GNAS bone,radius,fibrous dysplasia,NS c.604C>T p.R202C 20:58909365-58909365 12
17 COSM93701978 GNAS bone,humerus,fibrous dysplasia,NS c.602G>A p.R201H 20:58909366-58909366 12
18 COSM93086649 GNAS bone,radius,fibrous dysplasia,NS c.605G>A p.R202H 20:58909366-58909366 12
19 COSM93779631 GNAS bone,humerus,fibrous dysplasia,NS c.2489G>A p.R830H 20:58909366-58909366 12
20 COSM87642925 GNAS bone,radius,fibrous dysplasia,NS c.94-402C>T p.? 20:58909365-58909365 12
21 COSM89474878 GNAS bone,radius,fibrous dysplasia,NS c.*505G>A p.? 20:58909366-58909366 12
22 COSM85345852 GNAS bone,humerus,fibrous dysplasia,NS c.557G>A p.R186H 20:58909366-58909366 12
23 COSM93779606 GNAS bone,radius,fibrous dysplasia,NS c.2488C>T p.R830C 20:58909365-58909365 12
24 COSM93630265 GNAS bone,radius,fibrous dysplasia,NS c.*507C>T p.? 20:58909365-58909365 12

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 VIM TGFB1 SPP1 NF1 MUC1 MET
2
Show member pathways
13.26 TGFB1 NF1 MET KRT5 KRT1 CD36
3
Show member pathways
13.04 VIM TGFB1 NF1 MUC1 MET CD36
4
Show member pathways
12.8 TGFB1 SPP1 MET GNAS BMP2
5
Show member pathways
12.52 TGFB1 SPP1 SPARC BMP2
6 11.84 VIM TGFB1 MET
7
Show member pathways
11.7 VIM KRT5 KRT1
8 11.68 TGFB1 SPARC BMP2
9 11.58 TGFB1 KRT1 GNAS
10 11.51 VIM TGFB1 MUC1 CD36
11 11.24 TGFB1 MET CD36
12 11.17 SPP1 MET BGLAP
13 11.02 SPP1 GNAS BGLAP
14 11 TGFB1 SPP1 SPARC BMP2 BGLAP
15 10.88 TGFB1 BMP2
16 10.8 VIM TGFB1
17 10.75 TGFB1 MET
18 10.34 VIM TGFB1 SPP1 MET GNAS BMP2

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 TGFB1 SPARC MET CD36 BMP2
2 extracellular space GO:0005615 9.56 TGFB1 SPP1 SPARC MUC1 KRT1 CD36
3 Golgi lumen GO:0005796 9.5 TGFB1 MUC1 BGLAP
4 vesicle GO:0031982 9.46 SPP1 SPARC MUC1 BGLAP
5 platelet alpha granule membrane GO:0031092 9.37 SPARC CD36
6 extracellular region GO:0005576 9.28 TGFB1 SPP1 SPARC MUC1 MET KRT1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.81 VIM TGFB1 MUC1 CD36
2 skeletal system development GO:0001501 9.73 GNAS BMP2 BGLAP
3 heart development GO:0007507 9.73 TGFB1 SPARC NF1 BMP2
4 platelet degranulation GO:0002576 9.72 TGFB1 SPARC CD36
5 wound healing GO:0042060 9.7 TGFB1 SPARC NF1
6 cellular response to growth factor stimulus GO:0071363 9.58 TGFB1 BMP2 BGLAP
7 establishment of skin barrier GO:0061436 9.57 MET KRT1
8 pathway-restricted SMAD protein phosphorylation GO:0060389 9.54 TGFB1 BMP2
9 SMAD protein signal transduction GO:0060395 9.54 VIM TGFB1 BMP2
10 inner ear development GO:0048839 9.5 TGFB1 SPARC BMP2
11 regulation of bone resorption GO:0045124 9.49 NF1 BGLAP
12 response to gravity GO:0009629 9.48 SPARC BGLAP
13 negative regulation of neuroblast proliferation GO:0007406 9.46 TGFB1 NF1
14 ossification GO:0001503 9.46 SPP1 SPARC BMP2 BGLAP
15 positive regulation of odontogenesis GO:0042482 9.26 TGFB1 BMP2
16 osteoblast differentiation GO:0001649 9.26 SPP1 NF1 BMP2 BGLAP
17 response to vitamin D GO:0033280 8.8 TGFB1 SPP1 BGLAP

Sources for Osteofibrous Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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