MCID: FBR009
MIFTS: 50

Fibrous Dysplasia

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Fibrous Dysplasia

MalaCards integrated aliases for Fibrous Dysplasia:

Name: Fibrous Dysplasia 12 76 53 55 15 73
Fibrous Dysplasia of Bone 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0080031
ICD10 33 M85.0
UMLS 73 C0259779

Summaries for Fibrous Dysplasia

NIH Rare Diseases : 53 Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones (polyostotic). Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in the arms and legs, the pelvis, and the ribs. Though many people with this disorder do not have any symptoms, others may have bone pain, abnormally shaped bones (deformities), or an increased risk of fractures (broken bones). The problems a person experiences depend on which bones are affected, and may arise from compression and displacement of adjacent structures to the lesions. For example, the legs can be of different lengths, leading to a limp, the bones of the sinuses can be affected, leading to chronic sinus congestion or headache. This condition can occur alone or as part of a genetic disorder, such as McCune-Albright syndrome. While there is no cure for fibrous dysplasia, the symptoms can be treated. Medications known as bisphosphonates can reduce pain and surgery may be used to treat fractures or to correct misshapen bones. 

MalaCards based summary : Fibrous Dysplasia, also known as fibrous dysplasia of bone, is related to fibrous dysplasia/mccune-albright syndrome and osteofibrous dysplasia. An important gene associated with Fibrous Dysplasia is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Pathways in cancer. The drugs Etidronic acid and Risedronate Sodium have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are Increased shRNA abundance and growth/size/body region

Disease Ontology : 12 A bone remodeling disease that results in the destruction of normal bone and replacing it with fibrous bone tissue.

Wikipedia : 76 Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting... more...

Related Diseases for Fibrous Dysplasia

Diseases related to Fibrous Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 239)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia/mccune-albright syndrome 33.5 GH1 PRL
2 osteofibrous dysplasia 32.9 BGLAP GNAS SPARC
3 mccune-albright syndrome 32.1 APC BGLAP FGF23 GH1 GNAS IBSP
4 hyperparathyroidism 30.4 BGLAP CALCA FGF23
5 gigantism 30.3 GH1 PRL
6 giant cell reparative granuloma 30.3 CALCA SH3BP2
7 brittle bone disorder 30.2 BGLAP IBSP SPARC
8 precocious puberty 30.2 GH1 GNAS
9 primary hyperparathyroidism 30.0 BGLAP CALCA FGF23 PRL
10 osteomalacia 29.9 BGLAP CALCA FGF23
11 bone osteosarcoma 29.9 BGLAP SPARC
12 acromegaly 29.8 GH1 GNAS IGF1 PRL SST
13 hyperthyroidism 29.7 BGLAP GH1 GNAS PRL SST
14 goiter 29.7 BGLAP CALCA GNAS
15 empty sella syndrome 29.5 GH1 IGF1 PRL
16 hyperprolactinemia 29.4 GH1 IGF1 PRL SST
17 bone disease 29.2 BGLAP CALCA FGF23 IBSP IGF1 SPARC
18 hypothyroidism 29.1 CALCA GH1 GNAS IGF1 PRL
19 osteoporosis 28.8 BGLAP CALCA FGF23 GH1 IBSP IGF1
20 adenoma 28.6 APC GH1 GNAS IGF1 PRL SST
21 monostotic fibrous dysplasia 12.6
22 panostotic fibrous dysplasia 12.3
23 mazabraud syndrome 11.8
24 cherubism 11.4
25 coxa vara 11.3
26 osteoglophonic dysplasia 11.0
27 ossifying fibroma 10.4
28 aneurysmal bone cysts 10.4
29 sarcoma 10.3
30 autosomal recessive hypophosphatemic rickets 10.2 FGF23 IBSP
31 papillary cystadenocarcinoma 10.2 BGLAP SPARC
32 conventional central osteosarcoma 10.2 BGLAP SPARC
33 impaired renal function disease 10.2 BGLAP FGF23
34 phosphorus metabolism disease 10.2 FGF23 GNAS
35 osteogenic sarcoma 10.2
36 exophthalmos 10.2
37 periosteal osteogenic sarcoma 10.2 BGLAP SPARC
38 nontoxic goiter 10.1 BGLAP CALCA
39 amyloid tumor 10.1 CALCA SPARC
40 hypophosphatasia, adult 10.1 BGLAP CALCA
41 peripheral osteosarcoma 10.1 GNAS SPARC
42 aromatase deficiency 10.1 BGLAP GH1
43 hypoadrenalism 10.1 CALCA GH1
44 villous adenoma 10.1 GNAS SST
45 non-functioning pituitary adenoma 10.1 GH1 SST
46 adenohypophysitis 10.1 GH1 PRL
47 osseous heteroplasia, progressive 10.1 BGLAP GNAS SPARC
48 hypothalamic disease 10.1 GH1 PRL
49 scoliosis 10.1
50 osteomyelitis 10.1

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



Diseases related to Fibrous Dysplasia

Symptoms & Phenotypes for Fibrous Dysplasia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 APC BGLAP CALCA GH1

MGI Mouse Phenotypes related to Fibrous Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 APC FGF23 GNAS IBSP IGF1 SH3BP2
2 immune system MP:0005387 9.97 APC FGF23 GNAS IBSP IGF1 PRL
3 craniofacial MP:0005382 9.8 APC GNAS IBSP SH3BP2 SPARC
4 integument MP:0010771 9.8 APC FGF23 GNAS IGF1 PRL SH3BP2
5 limbs/digits/tail MP:0005371 9.7 APC FGF23 GNAS IBSP IGF1 SH3BP2
6 neoplasm MP:0002006 9.35 APC GNAS IGF1 PRL SPARC
7 skeleton MP:0005390 9.23 APC FGF23 GNAS IBSP IGF1 SH3BP2

Drugs & Therapeutics for Fibrous Dysplasia

Drugs for Fibrous Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etidronic acid Approved Phase 2, Phase 3 7414-83-7, 2809-21-4 3305
2 Risedronate Sodium Phase 2, Phase 3 115436-72-1
3 Calcium, Dietary Phase 2, Phase 3
4 calcium channel blockers Phase 2, Phase 3
5 Diphosphonates Phase 2, Phase 3
6 Bone Density Conservation Agents Phase 2, Phase 3
7 Hormones Phase 3,Phase 2,Phase 1
8 Hormone Antagonists Phase 3,Phase 2,Phase 1
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
10
Alendronate Approved Phase 2 66376-36-1, 121268-17-5 2088
11
Testolactone Approved, Investigational Phase 2 968-93-4 13769
12
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
13
Fulvestrant Approved, Investigational Phase 2 129453-61-8 17756771 104741
14
Denosumab Approved Phase 2 615258-40-7
15 Estrogens Phase 2,Phase 1
16 Aromatase Inhibitors Phase 2,Phase 1
17 Antineoplastic Agents, Hormonal Phase 2
18 Estrogen Antagonists Phase 2,Phase 1
19 Steroid Synthesis Inhibitors Phase 2,Phase 1
20 Estrogen Receptor Antagonists Phase 2,Phase 1
21 Phosphodiesterase 4 Inhibitors Phase 1, Phase 2
22
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
23
Histamine Approved, Investigational 51-45-6, 75614-87-8 774
24
Histamine Phosphate 51-74-1 65513
25 Neurotransmitter Agents
26 insulin
27 Insulin, Globin Zinc

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3 risedronate;placebo;risedronate;placebo
2 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
3 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2 Tocilizumab;Placebo
4 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
5 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
6 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2 Arimidex 1 mg
7 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright Syndrome Recruiting NCT02743377 Phase 1, Phase 2
8 Faslodex in McCune Albright Syndrome Active, not recruiting NCT00278915 Phase 2 Fulvestrant
9 Denosumab Treatment for Fibrous Dysplasia Enrolling by invitation NCT03571191 Phase 2 Denosumab;Denosumab;Denosumab
10 Effects of Letrozole on Precocious Puberty Due to McCune Albright Syndrome Completed NCT00006174 Phase 1 Letrozole
11 Interest of Serum Periostin Dosage in Patients With Bone Fibrous Dysplasia Completed NCT02868645 Not Applicable
12 Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright Syndrome Completed NCT00001973
13 Bone Marrow Injection to Replace Diseased Bone in Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001851
14 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
15 Histamine Responsiveness in McCune-Albright Syndrome Completed NCT00318097
16 Natural History of Cherubism Observational Study Completed NCT01916772
17 Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry Recruiting NCT03231644
18 Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome Recruiting NCT03520153
19 Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Recruiting NCT00001727
20 Genetic and Functional Analysis of Cherubism Recruiting NCT01630447

Search NIH Clinical Center for Fibrous Dysplasia

Genetic Tests for Fibrous Dysplasia

Anatomical Context for Fibrous Dysplasia

MalaCards organs/tissues related to Fibrous Dysplasia:

41
Bone, Skin, Brain, Breast, Pituitary, Thyroid, Bone Marrow

Publications for Fibrous Dysplasia

Articles related to Fibrous Dysplasia:

(show top 50) (show all 1338)
# Title Authors Year
1
Fibrous Dysplasia: Clinicopathologic Presentation of 36 Cases. ( 29744853 )
2018
2
Emergency Optic Canal Decompression for Vision Salvage in Fibrous Dysplasia. ( 28958926 )
2018
3
An Unfamiliar Complication of Frontoethmoid Sinus Fibrous Dysplasia: Intradiploic CSF Cyst. ( 29866225 )
2018
4
Different clinical presentation and management of temporal bone fibrous dysplasia in children. ( 29335001 )
2018
5
Direct evidence for the age-dependent demise of GNAS-mutated cells in oral fibrous dysplasia. ( 29909118 )
2018
6
Fibrous dysplasia imitating malignancy. ( 29859820 )
2018
7
Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates. ( 29669167 )
2018
8
Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort. ( 29599748 )
2018
9
Bone Recontouring by Guided Surgical Navigation Integrating "Mirroring" Computational Planning in the Management of Severe Fronto-orbital Asymmetry in Fibrous Dysplasia. ( 29294508 )
2018
10
Fibrous dysplasia of bone: Surgical management options and outcomes of 22 cases. ( 29977545 )
2018
11
Fibrous dysplasia: an unusual case of a very aggressive form with costo-vertebral joint destruction and invasion of the contralateral D7 vertebral body. ( 29789859 )
2018
12
Chiari I malformation and basilar invagination in fibrous dysplasia: prevalence, mechanisms, and clinical implications. ( 29924878 )
2018
13
Fibrous Dysplasia: A Complex Maxillary Reconstruction. ( 29944564 )
2018
14
Growth hormone-Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome. ( 29672904 )
2018
15
Induced<i>Gnas</i><sup> <i>R201H</i> </sup>expression from the endogenous<i>Gnas</i>locus causes fibrous dysplasia by up-regulating Wnt/I^-catenin signaling. ( 29158412 )
2018
16
Passive Coping Strategies Are Associated With More Impairment In Quality Of Life In Patients With Fibrous Dysplasia. ( 29948062 )
2018
17
Bilateral Tibial Fibrous Dysplasia in a Pediatric Patient treated with Intramedullary Nailing. ( 29547687 )
2018
18
Osteosarcoma arising in fibrous dysplasia, confirmed by mutational analysis of GNAS gene. ( 29268950 )
2018
19
Craniomaxillofacial Fibrous Dysplasia: Conservative Treatment and Maxillary Osteotomy Using the Schuchardt-Kufner Technique. ( 29387305 )
2018
20
Illness Perceptions are Associated with Quality of Life in Patients with Fibrous Dysplasia. ( 29022055 )
2018
21
Individualized approach to the surgical management of fibrous dysplasia of the proximal femur. ( 29720212 )
2018
22
Lamellation in fibrous dysplasia: A clinicopathologic study. ( 29675824 )
2018
23
Surgical Simulation and Custom-Made Implant for Cranial Fibrous Dysplasia. ( 29561485 )
2018
24
Optical Coherence Tomography in the Management of Skull Base Fibrous Dysplasia with Optic Nerve Involvement. ( 29038079 )
2018
25
Expression of an active GI+<sub>s</sub>mutant in skeletal stem cells is sufficient and necessary for fibrous dysplasia initiation and maintenance. ( 29282319 )
2018
26
Sphenoid Bone Fibrous Dysplasia Detected Incidentally on Bone Scintigraphy by the Contribution of SPECT/CT Hybrid Imaging. ( 29393050 )
2018
27
Effects of BMP-2 on the osteogenic differentiation of bone marrow stem cells in fibrous dysplasia. ( 29667269 )
2018
28
Letter to the Editor Regarding &amp;quot;Optical Coherence Tomography in the Management of Skull Base Fibrous Dysplasia with Optic Nerve Involvement&amp;quot;. ( 29791994 )
2018
29
Intramuscular myxoma and fibrous dysplasia of bone presents as Mazabraud's syndrome. ( 28608487 )
2018
30
Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia. ( 29192304 )
2018
31
Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion. ( 29485574 )
2018
32
Fibrous Dysplasia of the Rib Mimicking a Malignant Bone Tumor at SPECT/CT with 99mTc-MDP. ( 29517538 )
2018
33
Bifrontal Craniotomy for Resection of Recurrent Fibrous Dysplasia: 2-Dimensional Operative Video. ( 29534205 )
2018
34
Hyperostotic esthesioneuroblastoma as a fibrous dysplasia mimicker. ( 29789119 )
2018
35
Craniofacial Polyostotic Fibrous Dysplasia Initially Diagnosed in a Primary Care Unit. ( 29976033 )
2018
36
Corrigendum to "Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma". ( 29992060 )
2018
37
Computed Tomography and Magnetic Resonance Imaging Manifestations of Spinal Monostotic Fibrous Dysplasia. ( 30034927 )
2018
38
Concomittant fibrous dysplasia with aneurysmal bone cyst formation within the skull, humerus and rib. ( 30057744 )
2018
39
Fibrous dysplasia of the anterior mandible: A rare case report. ( 30069129 )
2018
40
Surgical treatment for shepherd's crook deformity in fibrous dysplasia: THERE IS NO BEST, ONLY BETTER. ( 30083845 )
2018
41
Fibrous dysplasia and Klippel-Trenaunay syndrome: a rare association. ( 30109016 )
2018
42
Conservative surgical management of simple monostotic fibrous dysplasia of the proximal femur in a 19-year-old basketballer: a case report. ( 30165901 )
2018
43
Advanced Unilateral Fibrous Dysplasia of the Scapula: A Rare Clinical Entity and Surgical Challenge. ( 30167424 )
2018
44
Cystic Degeneration of Craniofacial Fibrous Dysplasia. ( 30176400 )
2018
45
Valgus Osteotomy with Plate-and-Nail Fixation for the Treatment of Proximal Femoral Deformities Due to Fibrous Dysplasia: A Report of Two Cases. ( 30211714 )
2018
46
Craniofacial polyostotic fibrous dysplasia: imaging findings. ( 30236461 )
2018
47
Treatment of fibrous dysplasia of the zygomaticomaxillary complex with radical resection and three-dimensional reconstruction with autologous calvarial bone graft. ( 30282430 )
2018
48
Fibrous dysplasia of occipital bone revealed by acute intracranial hypertension. ( 30327834 )
2018
49
Pathological fracture of the humerus and subsequent diagnosis of polyostotic fibrous dysplasia. ( 30342755 )
2018
50
Radiographic Diagnosis of Fibrous Dysplasia in Maxilla. ( 30345186 )
2018

Variations for Fibrous Dysplasia

Expression for Fibrous Dysplasia

Search GEO for disease gene expression data for Fibrous Dysplasia.

Pathways for Fibrous Dysplasia

GO Terms for Fibrous Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.61 BGLAP CALCA FGF23 GH1 IBSP IGF1
2 vesicle GO:0031982 9.43 BGLAP IBSP SPARC
3 extracellular region GO:0005576 9.32 BGLAP CALCA FGF23 GH1 GNAS IBSP
4 endosome lumen GO:0031904 9.16 GH1 PRL

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.73 BGLAP GNAS PRL SST
2 skeletal system development GO:0001501 9.7 BGLAP GNAS IGF1
3 response to ethanol GO:0045471 9.69 BGLAP PRL SPARC
4 activation of adenylate cyclase activity GO:0007190 9.57 CALCA GNAS
5 regulation of multicellular organism growth GO:0040014 9.56 IGF1 PRL
6 cellular protein metabolic process GO:0044267 9.56 CALCA FGF23 IGF1 PRL
7 positive regulation of JAK-STAT cascade GO:0046427 9.55 GH1 PRL
8 regulation of bone mineralization GO:0030500 9.54 BGLAP FGF23
9 response to nutrient levels GO:0031667 9.54 BGLAP GH1 PRL
10 cellular response to growth factor stimulus GO:0071363 9.5 BGLAP IBSP SPARC
11 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.49 GH1 PRL
12 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.48 GH1 IGF1
13 cellular response to vitamin D GO:0071305 9.46 BGLAP FGF23
14 response to gravity GO:0009629 9.4 BGLAP SPARC
15 bone development GO:0060348 9.33 BGLAP GNAS SPARC
16 response to heat GO:0009408 9.13 CALCA IGF1 SST
17 regulation of signaling receptor activity GO:0010469 9.1 CALCA FGF23 GH1 IGF1 PRL SST

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.43 FGF23 GH1 IGF1
2 insulin-like growth factor receptor binding GO:0005159 9.16 GNAS IGF1
3 hormone activity GO:0005179 9.02 CALCA GH1 IGF1 PRL SST
4 prolactin receptor binding GO:0005148 8.96 GH1 PRL

Sources for Fibrous 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....