OSFD
MCID: OST032
MIFTS: 51

Osteofibrous Dysplasia (OSFD)

Categories: Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Osteofibrous Dysplasia

MalaCards integrated aliases for Osteofibrous Dysplasia:

Name: Osteofibrous Dysplasia 57 19 58 73 28 53 5 71 75
Ofd 57 58 73
Jaffe-Campanacci Syndrome 19 71
Ossifying Fibroma 19 71
Osfd 57 73
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 57
Bowing of Tibia with Pseudarthrosis and Pectus Excavatum 73
Dysplasia, Osteofibrous, Susceptibility to 38
Osteofibrous Dysplasia, Susceptibility to 57
Congenital Pseudoarthrosis of the Limbs 58
Congenital Pseudarthrosis of the Limbs 58
Intracortical Fibrous Dysplasia 19

Characteristics:


Inheritance:

Autosomal dominant 58 57

Age Of Onset:

Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of symptoms in childhood
spontaneous resolution of lesions during skeletal maturation
no radiologic evidence of persistent disease in adulthood


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 607278
MeSH 43 D001848
UMLS via Orphanet 72 C5190522
UMLS 71 C0206640 C0796000 C1709353

Summaries for Osteofibrous Dysplasia

OMIM®: 57 Osteofibrous dysplasia (OSFD) 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 08-Dec-2022)

MalaCards based summary: Osteofibrous Dysplasia, also known as ofd, is related to gingival overgrowth and root resorption. An important gene associated with Osteofibrous Dysplasia is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Signaling by Receptor Tyrosine Kinases and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include bone, cortex and bone marrow, and related phenotypes are pectus excavatum and fibular hypoplasia

Orphanet 58 Osteofibrous dysplasia: Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.

Congenital pseudoarthrosis of the limbs: Congenital pseudoarthrosis of the limbs is a rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.

GARD: 19 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.

UniProtKB/Swiss-Prot: 73 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: 75 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 317)
# Related Disease Score Top Affiliating Genes
1 gingival overgrowth 30.6 SPARC CD36
2 root resorption 30.5 SPP1 SPARC
3 fibrous dysplasia 30.1 SPP1 SPARC GNAS BGLAP
4 tibial adamantinoma 30.0 SPP1 SPARC
5 primary hyperparathyroidism 29.8 CD36 BGLAP
6 osteoblastoma 29.8 SPARC BGLAP
7 osteomalacia 29.8 CD36 BGLAP
8 osteitis fibrosa 29.7 GNAS BGLAP
9 chronic kidney disease 29.5 SPP1 CD36 BGLAP
10 hypophosphatemia 29.4 SPP1 GNAS BGLAP
11 craniosynostosis 29.3 SPP1 GNAS BGLAP
12 rickets 29.3 SPP1 CD36 BGLAP
13 hyperthyroidism 29.2 GNAS BGLAP
14 bone disease 29.0 SPP1 SPARC CD36 BGLAP
15 osteogenic sarcoma 28.9 SPP1 SPARC MET CD36 BGLAP
16 osteochondrodysplasia 28.8 SPP1 SPARC GNAS BGLAP
17 juvenile ossifying fibroma 11.7
18 hyperparathyroidism 2 with jaw tumors 11.5
19 gigantiform cementoma, familial 11.4
20 orofaciodigital syndrome iv 11.4
21 mohr syndrome 11.3
22 congenital pseudoarthrosis of the radius 11.1
23 congenital pseudoarthrosis of the ulna 11.1
24 orofaciodigital syndrome i 11.0
25 orofaciodigital syndrome v 11.0
26 orofaciodigital syndrome xi 11.0
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 fibroma 10.6
33 pyogenic granuloma 10.6
34 overgrowth syndrome 10.6
35 ossifying fibroma 10.6
36 hyperparathyroidism 10.5
37 hemifacial hyperplasia 10.5
38 epulis 10.5
39 adamantinoma of long bones 10.5
40 cerebrooculofacioskeletal syndrome 1 10.4
41 meningioma, familial 10.4
42 giant cell reparative granuloma 10.4
43 florid cemento-osseous dysplasia 10.4
44 polydactyly 10.4
45 cafe-au-lait spots, multiple 10.3
46 bone cancer 10.3
47 fanconi anemia, complementation group e 10.3
48 parathyroid adenoma 10.3
49 odontoma 10.3
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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 30 Occasional (7.5%) HP:0000767
2 fibular hypoplasia 30 Occasional (7.5%) HP:0003038
3 pathologic fracture 30 Very rare (1%) HP:0002756
4 pseudoarthrosis 30 HP:0005864

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Osteofibrous Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 BGLAP CD36 GNAS MET SPARC SPP1
2 neoplasm MP:0002006 9.73 GNAS MET SPARC SPP1
3 muscle MP:0005369 9.71 CD36 GNAS MET SPP1
4 liver/biliary system MP:0005370 9.67 CD36 GNAS MET SPP1
5 immune system MP:0005387 9.63 BGLAP CD36 GNAS MET SPARC SPP1
6 craniofacial MP:0005382 9.56 GNAS MET SPARC SPP1
7 skeleton MP:0005390 9.35 BGLAP CD36 GNAS SPARC SPP1
8 vision/eye MP:0005391 9.02 CD36 GNAS MET SPARC SPP1

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 Completed 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 28 MET

Anatomical Context for Osteofibrous Dysplasia

Organs/tissues related to Osteofibrous Dysplasia:

MalaCards : Bone, Cortex, Bone Marrow, Smooth Muscle, T Cells, Eye, Prostate

Publications for Osteofibrous Dysplasia

Articles related to Osteofibrous Dysplasia:

(show top 50) (show all 1655)
# Title Authors PMID Year
1
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. 62 57 5
26637977 2015
2
Familial osteofibrous dysplasia. A case series. 62 57 5
16203897 2005
3
Bilateral osteofibrous dysplasia: a report of two cases and review of the literature. 62 57 5
9234973 1997
4
Familial congenital bowing of the tibia with pseudarthrosis and pectus excavatum: report of a kindred. 57 5
1270474 1976
5
Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones. 62 57
21983933 2012
6
Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement. 62 57
12239726 2002
7
Osteofibrous dysplasia: clinicopathologic study of 80 cases. 62 57
8276381 1993
8
Osteofibrous dysplasia of long bones a new clinical entity. 62 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. 53 62
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. 53 62
10667418 1999
12
Transformation of Cemento-Ossifying Fibroma into Osteosarcoma after Radiotherapy and Nine Endoscopic Surgeries. 62
35575211 2023
13
Juvenile psammomatoid ossifying fibroma in paranasal sinuses: A case report and literature review. 62
36324855 2023
14
Peripheral Ossifying Fibroma and Peripheral Odontogenic Fibroma: Close Relatives or Family? 62
35524033 2022
15
MDM2 Gene Amplification and Expression of MDM2 and CDK4 are Rare in Ossifying Fibroma of Craniofacial Bones. 62
35546651 2022
16
Adamantinoma with a Prominent Spindle Cell Component Mimicking Intraosseous Synovial Sarcoma: Clinicopathological Features of Six Tumors. 62
35946120 2022
17
Management of juvenile trabecular ossifying fibroma of bone of the maxilla in a child: A case report at a tertiary hospital in Northern Tanzania. 62
36257140 2022
18
A novel technique to repair orbital roof defects: irradiated homologous cadaveric rib (Tutoplast ®) graft in a recurrent frontal sinus ossifying fibroma. 62
36425586 2022
19
Juvenile psammomatoid ossifying fibroma of the maxilla and mandible: A systematic review of published case reports. 62
36325758 2022
20
Coronavirus disease 2019 subphenotypes and differential treatment response to convalescent plasma in critically ill adults: secondary analyses of a randomized clinical trial. 62
36102943 2022
21
Peripheral Ossifying Fibroma Veiling a Nasopalatine Duct Cyst: An Unusual Concurrence. 62
36452642 2022
22
Endoscopic Transnasal Management of Giant Paediatric Sinonasal Ossifying Fibroma. 62
36452801 2022
23
Three Cases of Mandibular Ossifying Fibroma in Cattle. 62
36116887 2022
24
Oestrogen receptor expression distinguishes non-ossifying fibroma from other giant cell containing bone tumours. 62
35612673 2022
25
Role of MDM2, CDK4, BCL2, Parafibromin and Galectin 1 in Differentiating Osteosarcoma from its Benign Fibro-osseous Lesions. 62
35220546 2022
26
Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature. 62
35801299 2022
27
A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report. 62
36153594 2022
28
Aneurysmal bone cyst on top of fibro-osseous lesion of the ethmoid sinus with orbital and intracranial extension in a child. 62
36101731 2022
29
Neonatal osteofibrous dysplasia: Synchronous tibial and fibular involvement is common. 62
36101735 2022
30
Peripheral ossifying fibroma: A 20-year retrospective study with focus on clinical and morphological features. 62
35717619 2022
31
Mandibular Osteoma in a Haflinger Mare: Clinical and Pathological Features. 62
35716838 2022
32
Expression levels of nitrogen assimilation-related genes, physiological responses, and morphological adaptations of three indica rice (Oryza sativa L. ssp. indica) genotypes subjected to nitrogen starvation conditions. 62
36056227 2022
33
Ameloblastoma: An Updated Narrative Review of an Enigmatic Tumor. 62
36127985 2022
34
An interdisciplinary approach for the management and rehabilitation of a fibro-osseous neoplasm using platelet-rich gel and an implant-supported hybrid prosthesis. 62
36393939 2022
35
Juvenile aggressive ossifying fibroma. 62
36393953 2022
36
Aneurysmal Bone Cyst Plus Lesions: A Case Report and a Literature Review. 62
36120211 2022
37
Juvenile psammomatoid ossifying fibroma with aneurysmal bone cyst in the mandible: A report of a rare case. 62
36393963 2022
38
Secondary osteosarcoma associated with osteofibrous dysplasia: a case report. 62
35939070 2022
39
Pathological Fractures in Benign Bone Lesions - Diagnosis and Therapy. 62
35882354 2022
40
Direct evidence supporting a periodontal ligament origin for central cemento-ossifying fibroma. 62
35610173 2022
41
Endoscopic Endonasal Trans-Agger Nasi Approach for Resection of Ossifying Fibroma Involving the Anterior Skull Base: Surgical Anatomy and Technical Note. 62
35861707 2022
42
Delayed Eruption of Tooth Due to Peripheral Giant-Cell Granuloma: An Unusual Presentation and Treatment in 15-Year-Old Child Patient. 62
36110691 2022
43
Fibro-Osseous Lesion of the Nose and Paranasal Sinus: A Retrospective Study With Literature Review. 62
36035031 2022
44
Focal Cemento Osseous Dysplasia: A Case Report. 62
35783499 2022
45
Recurrent Gingival Lesions in a Pediatric Patient. 62
35720203 2022
46
Spongiotic hyperplasia of the oral mucosa: case series and immunohistochemical analysis. 62
34401975 2022
47
[A large maxillary fibroepithelial polyp: a lump in the throat]. 62
35670462 2022
48
Frequency of Odontogenic Tumors: A Single Center Study of 1089 Cases in Japan and Literature Review. 62
34716904 2022
49
The importance of clinical and radiological findings for the definitive histopathologic diagnosis of benign fibro-osseous lesions of the jaws: Study of 276 cases. 62
33878496 2022
50
Aggressive juvenile ossifying fibroma of the ethmoid sinus with orbital and intracranial extension: A case report. 62
35738137 2022

Variations for Osteofibrous Dysplasia

ClinVar genetic disease variations for Osteofibrous Dysplasia:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MET NM_000245.4(MET):c.3011_3028+9del DEL Risk Factor
225226 rs869320706 GRCh37: 7:116412025-116412051
GRCh38: 7:116771971-116771997
2 MET NM_000245.4(MET):c.3028+1G>T SNV Risk Factor
225227 rs869320707 GRCh37: 7:116412044-116412044
GRCh38: 7:116771990-116771990
3 MET NM_000245.4(MET):c.1157T>G (p.Leu386Arg) SNV Uncertain Significance
524881 rs1554379180 GRCh37: 7:116340295-116340295
GRCh38: 7:116700241-116700241
4 MET NM_000245.4(MET):c.406G>A (p.Val136Ile) SNV Uncertain Significance
142059 rs199701987 GRCh37: 7:116339544-116339544
GRCh38: 7:116699490-116699490
5 MET NM_000245.4(MET):c.142G>A (p.Ala48Thr) SNV Uncertain Significance
454188 rs374050750 GRCh37: 7:116339280-116339280
GRCh38: 7:116699226-116699226
6 MET NM_000245.4(MET):c.143C>G (p.Ala48Gly) SNV Uncertain Significance
411909 rs80256822 GRCh37: 7:116339281-116339281
GRCh38: 7:116699227-116699227
7 MET NM_000245.4(MET):c.762A>C (p.Glu254Asp) SNV Uncertain Significance
568449 rs760278126 GRCh37: 7:116339900-116339900
GRCh38: 7:116699846-116699846
8 MET NM_000245.4(MET):c.799G>A (p.Glu267Lys) SNV Uncertain Significance
411894 rs755954919 GRCh37: 7:116339937-116339937
GRCh38: 7:116699883-116699883
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 rs750337451 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
17 MET NM_000245.4(MET):c.2971C>T (p.Pro991Ser) SNV Uncertain Significance
411918 rs768678989 GRCh37: 7:116411986-116411986
GRCh38: 7:116771932-116771932

Cosmic variations for Osteofibrous Dysplasia:

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

Expression for Osteofibrous Dysplasia

Search GEO for disease gene expression data for Osteofibrous Dysplasia.

Pathways for Osteofibrous Dysplasia

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 platelet alpha granule membrane GO:0031092 8.92 SPARC CD36

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

# Name GO ID Score Top Affiliating Genes
1 biomineral tissue development GO:0031214 9.33 SPP1 BGLAP
2 response to vitamin D GO:0033280 9.26 SPP1 BGLAP
3 response to macrophage colony-stimulating factor GO:0036005 8.92 SPP1 BGLAP

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 8.92 SPP1 SPARC

Sources for Osteofibrous Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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