MCID: FBR009
MIFTS: 49

Fibrous Dysplasia

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Fibrous Dysplasia

MalaCards integrated aliases for Fibrous Dysplasia:

Name: Fibrous Dysplasia 12 72 49 51 14 69
Fibrous Dysplasia of Bone 49

Classifications:



External Ids:

Disease Ontology 12 DOID:0080031
ICD10 32 M85.0
UMLS 69 C0259779

Summaries for Fibrous Dysplasia

NIH Rare Diseases : 49 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.  Last updated: 6/30/2017

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 Metabolism of proteins and Pathways in cancer. The drugs Etidronic acid and Bone Density Conservation Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are Increased shRNA abundance and immune system

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

Wikipedia : 72 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 220)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia/mccune-albright syndrome 33.6 GH1 PRL
2 osteofibrous dysplasia 32.9 BGLAP GNAS SPARC
3 ossifying fibroma 30.7 CDC73 GNAS
4 mccune-albright syndrome 30.5 APC BGLAP FGF23 GH1 GNAS IBSP
5 gigantism 30.5 GH1 PRL
6 brittle bone disorder 30.2 BGLAP IBSP SPARC
7 cohen-gibson syndrome 30.1 BGLAP FGF23
8 adamantinoma of long bones 29.9 BGLAP SPARC
9 osteomalacia 29.9 BGLAP CALCA FGF23
10 empty sella syndrome 29.9 GH1 PRL
11 goiter 29.7 BGLAP CALCA GNAS
12 hyperparathyroidism 29.6 BGLAP CALCA CDC73 FGF23
13 precocious puberty 29.5 GH1 GNAS
14 growth hormone secreting pituitary adenoma 29.2 GNAS PRL SST
15 primary hyperparathyroidism 29.0 BGLAP CALCA CDC73 FGF23 PRL
16 acromegaly 28.8 GH1 GNAS IGF1 PRL SST
17 hyperprolactinemia 28.7 GH1 IGF1 PRL SST
18 hyperthyroidism 28.6 BGLAP GH1 GNAS PRL SST
19 pituitary adenoma, prolactin-secreting 28.2 GH1 GNAS IGF1 PRL SST
20 pituitary adenoma 28.2 GH1 GNAS IGF1 PRL SST
21 osteoporosis 28.1 BGLAP CALCA FGF23 GH1 IBSP IGF1
22 adenoma 26.9 APC CDC73 GH1 GNAS IGF1 PRL
23 monostotic fibrous dysplasia 12.5
24 panostotic fibrous dysplasia 12.1
25 mazabraud syndrome 11.6
26 cherubism 11.3
27 osteoglophonic dysplasia 10.9
28 fibrosarcomatous osteosarcoma 10.4 BGLAP SPARC
29 autosomal recessive hypophosphatemic rickets 10.4 FGF23 IBSP
30 papillary cystadenocarcinoma 10.4 BGLAP SPARC
31 impaired renal function disease 10.4 BGLAP FGF23
32 periosteal osteogenic sarcoma 10.4 BGLAP SPARC
33 phosphorus metabolism disease 10.4 FGF23 GNAS
34 acth-secreting pituitary adenoma 10.3 GNAS PRL
35 hypophosphatasia, adult 10.3 BGLAP CALCA
36 pseudohypoparathyroidism, type ib 10.3 BGLAP GNAS
37 hypoadrenalism 10.3 CALCA GH1
38 nontoxic goiter 10.3 BGLAP CALCA
39 adenohypophysitis 10.3 GH1 PRL
40 hypocalcemia, autosomal dominant 1 10.3 CALCA GNAS
41 hypothalamic disease 10.3 GH1 PRL
42 bone benign neoplasm 10.3 CDC73 GNAS
43 amyloid tumor 10.3 CALCA SPARC
44 osseous heteroplasia, progressive 10.3 BGLAP GNAS SPARC
45 aromatase deficiency 10.3 BGLAP GH1
46 aneurysmal bone cysts 10.2
47 aneurysm 10.2
48 connective tissue benign neoplasm 10.2 CDC73 GNAS
49 osteitis fibrosa 10.2 BGLAP CALCA GNAS
50 galactorrhea 10.2 IGF1 PRL

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:

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.97 IGF1 PRL APC SPARC CDC73 SST
2 integument MP:0010771 9.8 IGF1 PRL APC SPARC CDC73 FGF23
3 limbs/digits/tail MP:0005371 9.63 IBSP IGF1 APC SPARC FGF23 GNAS
4 neoplasm MP:0002006 9.43 IGF1 PRL APC SPARC CDC73 GNAS
5 skeleton MP:0005390 9.23 IGF1 APC SPARC CDC73 SST FGF23

Drugs & Therapeutics for Fibrous Dysplasia

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etidronic acid Approved Phase 2, Phase 3 2809-21-4, 7414-83-7 3305
2 Bone Density Conservation Agents Phase 2, Phase 3
3 calcium channel blockers Phase 2, Phase 3
4 Calcium, Dietary Phase 2, Phase 3
5 Diphosphonates Phase 2, Phase 3
6 Risedronate Sodium Phase 2, Phase 3 115436-72-1
7 Hormone Antagonists Phase 3,Phase 2,Phase 1
8 Hormones Phase 3,Phase 2,Phase 1
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
10
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 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 Antineoplastic Agents, Hormonal Phase 2
15 Aromatase Inhibitors Phase 2,Phase 1
16 Estrogens Phase 2,Phase 1
17 Estrogen Antagonists Phase 2,Phase 1
18 Steroid Synthesis Inhibitors Phase 2,Phase 1
19 Estrogen Receptor Antagonists Phase 2
20 Phosphodiesterase 4 Inhibitors Phase 1, Phase 2
21
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
22
Histamine Approved, Investigational 51-45-6, 75614-87-8 774
23
Histamine Phosphate 51-74-1 65513
24 Neurotransmitter Agents

Interventional clinical trials:

(show all 18)

# 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 Faslodex in McCune Albright Syndrome Active, not recruiting NCT00278915 Phase 2 Fulvestrant
8 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright Syndrome Not yet recruiting NCT02743377 Phase 1, Phase 2
9 Effects of Letrozole on Precocious Puberty Due to McCune Albright Syndrome Completed NCT00006174 Phase 1 Letrozole
10 Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright Syndrome Completed NCT00001973
11 Bone Marrow Injection to Replace Diseased Bone in Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001851
12 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
13 Histamine Responsiveness in McCune-Albright Syndrome Completed NCT00318097
14 Natural History of Cherubism Observational Study Completed NCT01916772
15 Interest of Serum Periostin Dosage in Patients With Bone Fibrous Dysplasia Recruiting NCT02868645
16 Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry Recruiting NCT03231644
17 Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Recruiting NCT00001727
18 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:

38
Bone, Skin, Bone Marrow, Brain, B Cells, Tongue, Pituitary

Publications for Fibrous Dysplasia

Articles related to Fibrous Dysplasia:

(show top 50) (show all 807)
# Title Authors Year
1
Optical Coherence Tomography in the Management of Skull Base Fibrous Dysplasia with Optic Nerve Involvement. ( 29038079 )
2018
2
Different clinical presentation and management of temporal bone fibrous dysplasia in children. ( 29335001 )
2018
3
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
4
Sphenoid Bone Fibrous Dysplasia Detected Incidentally on Bone Scintigraphy by the Contribution of SPECT/CT Hybrid Imaging. ( 29393050 )
2018
5
Bone Recontouring by Guided Surgical Navigation Integrating "Mirroring" Computational Planning in the Management of Severe Fronto-orbital Asymmetry in Fibrous Dysplasia. ( 29294508 )
2018
6
Illness Perceptions are Associated with Quality of Life in Patients with Fibrous Dysplasia. ( 29022055 )
2018
7
Emergency Optic Canal Decompression for Vision Salvage in Fibrous Dysplasia. ( 28958926 )
2018
8
Osteosarcoma arising in fibrous dysplasia, confirmed by mutational analysis of GNAS gene. ( 29268950 )
2018
9
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
10
Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia. ( 29192304 )
2018
11
Craniomaxillofacial Fibrous Dysplasia: Conservative Treatment and Maxillary Osteotomy Using the Schuchardt-Kufner Technique. ( 29387305 )
2018
12
Natural history of cranial fibrous dysplasia revealed during long-term follow-up: Case report and literature review. ( 28966816 )
2017
13
Post-traumatic fibrous dysplasia of the parietal bone: A rare entity. ( 28761541 )
2017
14
Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership. ( 28243882 )
2017
15
Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome. ( 28660402 )
2017
16
Intramuscular myxoma and fibrous dysplasia of bone presents as Mazabraud's syndrome. ( 28608487 )
2017
17
The Status of Affected Infraorbital Nerve and Inferior Alveolar Nerve in Patients With Jaw Fibrous Dysplasia: A Clinical and Radiographic Evaluation. ( 28708654 )
2017
18
Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia. ( 28856726 )
2017
19
Clinical significance of increased serum levels of FGF-23 in fibrous dysplasia. ( 29295788 )
2017
20
Fibrous Dysplasia Mimicking Malignancy on 68Ga-DOTATATE PET/CT. ( 28072620 )
2017
21
Functional and radiological outcomes of a minimally invasive surgical approach to monostotic fibrous dysplasia. ( 28057011 )
2017
22
The value of (99m)Tc-methylene diphosphonate single photon emission computed tomography/computed tomography in diagnosis of fibrous dysplasia. ( 28738834 )
2017
23
Craniofacial Fibrous Dysplasia of Zygomaticomaxillary Complex. ( 29218289 )
2017
24
Hypothyroidism in McCune-Albright Syndrome and Role of Bone Scan in Management of Fibrous Dysplasia: An Unusual Case Scenario with Review of Literature. ( 28242980 )
2017
25
Computed Tomography in Craniofacial Fibrous Dysplasia: A Case Series with Review of Literature and Classification Update. ( 28839487 )
2017
26
Characteristics of sinonasal fibrous dysplasia: experience from a single department. ( 28830313 )
2017
27
Teaching Neuro<i>Images</i>: Craniofacial fibrous dysplasia: Loss of vision after head trauma. ( 29109141 )
2017
28
Our experience in the surgical management of craniofacial fibrous dysplasia: what has changed in the last 10 years? ( 29165438 )
2017
29
McCune-Albright syndrome-associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia. ( 28612379 )
2017
30
Polyostotic craniofacial fibrous dysplasia with bizarre radiologic finding: Mandible, anterior skull base, frontal, temporal, parietal, and occipital bones involvement. ( 28840064 )
2017
31
Prevalence of Different Forms and Involved Bones of Craniofacial Fibrous Dysplasia. ( 27922965 )
2017
32
18F-FDG PET/CT of Secondary Epithelioid Angiosarcoma of the Proximal Femur in a Patient With Polyostotic Fibrous Dysplasia. ( 28806239 )
2017
33
Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification. ( 28588314 )
2017
34
Value of (99m)Tc-MDP SPECT/CT and (18)F-FDG PET/CT scanning in the evaluation of malignantly transformed fibrous dysplasia. ( 28721303 )
2017
35
Treatment of shepherd's crook deformity in patients with polyostotic fibrous dysplasia using a new type of custom made retrograde intramedullary nail: a technical note. ( 28439311 )
2017
36
Giant Hemifacial Fibrous Dysplasia Functional Treatment and Place of Pamidronate. ( 28468152 )
2017
37
Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain. ( 28676838 )
2017
38
Determinants of impaired quality of life in patients with fibrous dysplasia. ( 28449700 )
2017
39
Might Trauma Be a Triggering Factor for Craniofacial Fibrous Dysplasia? ( 28468170 )
2017
40
Image Findings of Polyostotic Fibrous Dysplasia Mimicking Metastasis in F-18 FDG Positron Emission Tomography/Computed Tomography. ( 28533645 )
2017
41
Fibrous dysplasia mimicking bone metastasis on (68)GA-PSMA PET/MRI. ( 28488027 )
2017
42
Polyostotic Fibrous Dysplasia in McCune-Albright Syndrome Demonstrated on 68Ga-DOTATATE PET/CT. ( 27740949 )
2016
43
Fibrous dysplasia of the maxilla in an elderly female: Case report on a 14-year quiescent phase. ( 28035304 )
2016
44
Malignant transformation of polyostotic fibrous dysplasia with aberrant keratin expression. ( 27771377 )
2016
45
Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study. ( 28352837 )
2016
46
An Unusual Case of Polyostotic Fibrous Dysplasia in a 53-Year-Old Woman With Low Back Pain. ( 27330519 )
2016
47
Monostotic fibrous dysplasia presenting in maxilla: a case report. ( 28955564 )
2016
48
Fibrous Dysplasia: Management of the Optic Canal. ( 26890512 )
2016
49
Outcome of Long-Term Bisphosphonate Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia. ( 27649526 )
2016
50
An Atypical Presentation of Multiple Central Osteomas Mimicking Craniofacial Fibrous Dysplasia - A Pictorial Essay. ( 28050513 )
2016

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 9.56 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 14)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.69 BGLAP GNAS IGF1
2 cellular protein metabolic process GO:0044267 9.62 CALCA FGF23 IGF1 PRL
3 biomineral tissue development GO:0031214 9.54 BGLAP IBSP
4 regulation of multicellular organism growth GO:0040014 9.52 IGF1 PRL
5 regulation of bone mineralization GO:0030500 9.49 BGLAP FGF23
6 positive regulation of JAK-STAT cascade GO:0046427 9.48 GH1 PRL
7 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.46 GH1 PRL
8 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.43 GH1 IGF1
9 bone development GO:0060348 9.43 BGLAP GNAS SPARC
10 cellular response to vitamin D GO:0071305 9.4 BGLAP FGF23
11 response to gravity GO:0009629 9.37 BGLAP SPARC
12 cellular response to growth factor stimulus GO:0071363 9.33 BGLAP IBSP SPARC
13 response to heat GO:0009408 9.13 CALCA IGF1 SST
14 regulation of 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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