MCID: FBR009
MIFTS: 48

Fibrous Dysplasia

Categories: Rare diseases, Bone 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 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 : 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 214)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia/mccune-albright syndrome 33.7 GH1 PRL
2 osteofibrous dysplasia 33.0 BGLAP GNAS SPARC
3 giant cell reparative granuloma 30.5 CALCA SH3BP2
4 gigantism 30.5 GH1 PRL
5 brittle bone disorder 30.2 BGLAP IBSP SPARC
6 hyperparathyroidism 30.1 BGLAP CALCA FGF23
7 precocious puberty 30.0 GH1 GNAS
8 osteomalacia 29.9 BGLAP CALCA FGF23
9 goiter 29.7 BGLAP CALCA GNAS
10 growth hormone secreting pituitary adenoma 29.4 GNAS PRL SST
11 primary hyperparathyroidism 29.2 BGLAP CALCA FGF23 PRL
12 empty sella syndrome 29.0 GH1 IGF1 PRL
13 mccune-albright syndrome 28.4 APC BGLAP FGF23 GH1 GNAS IBSP
14 hyperprolactinemia 28.3 GH1 IGF1 PRL SST
15 hyperthyroidism 28.3 BGLAP GH1 GNAS PRL SST
16 acromegaly 28.3 GH1 GNAS IGF1 PRL SST
17 bone disease 27.7 BGLAP CALCA FGF23 IBSP IGF1 SPARC
18 hypothyroidism 27.7 CALCA GH1 GNAS IGF1 PRL
19 osteoporosis 26.7 BGLAP CALCA FGF23 GH1 IBSP IGF1
20 adenoma 26.1 APC GH1 GNAS IGF1 PRL SST
21 monostotic fibrous dysplasia 12.5
22 panostotic fibrous dysplasia 12.1
23 mazabraud syndrome 11.6
24 cherubism 11.3
25 coxa vara 11.2
26 osteoglophonic dysplasia 10.8
27 autosomal recessive hypophosphatemic rickets 10.7 FGF23 IBSP
28 fibrosarcomatous osteosarcoma 10.7 BGLAP SPARC
29 phosphorus metabolism disease 10.6 FGF23 GNAS
30 papillary cystadenocarcinoma 10.6 BGLAP SPARC
31 impaired renal function disease 10.6 BGLAP FGF23
32 periosteal osteogenic sarcoma 10.5 BGLAP SPARC
33 pseudohypoparathyroidism, type ib 10.5 BGLAP GNAS
34 villous adenoma 10.4 GNAS SST
35 hypocalcemia, autosomal dominant 1 10.4 CALCA GNAS
36 nontoxic goiter 10.4 BGLAP CALCA
37 hypophosphatasia, adult 10.4 BGLAP CALCA
38 aromatase deficiency 10.4 BGLAP GH1
39 hypoadrenalism 10.4 CALCA GH1
40 non-functioning pituitary adenoma 10.4 GH1 SST
41 adenohypophysitis 10.4 GH1 PRL
42 amyloid tumor 10.3 CALCA SPARC
43 hypothalamic disease 10.3 GH1 PRL
44 osseous heteroplasia, progressive 10.3 BGLAP GNAS SPARC
45 wdha syndrome 10.3 CALCA SST
46 pancreatic somatostatinoma 10.3 CALCA SST
47 duodenal somatostatinoma 10.3 CALCA SST
48 metaphyseal chondrodysplasia, jansen type 10.3 CALCA FGF23
49 aneurysmal bone cysts 10.3
50 aneurysm 10.3

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 immune system MP:0005387 9.97 IBSP IGF1 PRL SH3BP2 APC SPARC
2 integument MP:0010771 9.8 IGF1 PRL SH3BP2 APC SPARC FGF23
3 craniofacial MP:0005382 9.77 IBSP SH3BP2 APC SPARC GNAS
4 limbs/digits/tail MP:0005371 9.7 IBSP IGF1 SH3BP2 APC SPARC FGF23
5 neoplasm MP:0002006 9.35 IGF1 PRL APC SPARC GNAS
6 skeleton MP:0005390 9.23 IBSP IGF1 SH3BP2 APC SPARC 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 7414-83-7, 2809-21-4 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 104741 17756771
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 Phosphodiesterase 4 Inhibitors Phase 1, Phase 2
20 Estrogen Receptor Antagonists Phase 2
21
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
22
Histamine Approved, Investigational 75614-87-8, 51-45-6 774
23
Histamine Phosphate 51-74-1 65513
24 Neurotransmitter Agents

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 Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright Syndrome Completed NCT00001973
12 Bone Marrow Injection to Replace Diseased Bone in Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001851
13 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
14 Histamine Responsiveness in McCune-Albright Syndrome Completed NCT00318097
15 Natural History of Cherubism Observational Study Completed NCT01916772
16 Interest of Serum Periostin Dosage in Patients With Bone Fibrous Dysplasia Recruiting NCT02868645 Not Applicable
17 Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry Recruiting NCT03231644
18 Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Recruiting NCT00001727
19 Genetic and Functional Analysis of Cherubism Recruiting NCT01630447
20 Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome Not yet recruiting NCT03520153

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, Bone Marrow, Brain, Breast, B Cells, Pituitary

Publications for Fibrous Dysplasia

Articles related to Fibrous Dysplasia:

(show top 50) (show all 839)
# 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
Hyperostotic esthesioneuroblastoma as a fibrous dysplasia mimicker. ( 29789119 )
2018
30
Craniofacial Polyostotic Fibrous Dysplasia Initially Diagnosed in a Primary Care Unit. ( 29976033 )
2018
31
Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia. ( 29192304 )
2018
32
Craniofacial Fibrous Dysplasia of Zygomaticomaxillary Complex. ( 29218289 )
2017
33
Prevalence of Different Forms and Involved Bones of Craniofacial Fibrous Dysplasia. ( 27922965 )
2017
34
Image Findings of Polyostotic Fibrous Dysplasia Mimicking Metastasis in F-18 FDG Positron Emission Tomography/Computed Tomography. ( 28533645 )
2017
35
Determinants of impaired quality of life in patients with fibrous dysplasia. ( 28449700 )
2017
36
Giant Hemifacial Fibrous Dysplasia Functional Treatment and Place of Pamidronate. ( 28468152 )
2017
37
Natural history of cranial fibrous dysplasia revealed during long-term follow-up: Case report and literature review. ( 28966816 )
2017
38
Might Trauma Be a Triggering Factor for Craniofacial Fibrous Dysplasia? ( 28468170 )
2017
39
Functional and radiological outcomes of a minimally invasive surgical approach to monostotic fibrous dysplasia. ( 28057011 )
2017
40
Post-traumatic fibrous dysplasia of the parietal bone: A rare entity. ( 28761541 )
2017
41
Characteristics of sinonasal fibrous dysplasia: experience from a single department. ( 28830313 )
2017
42
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
43
The value of (99m)Tc-methylene diphosphonate single photon emission computed tomography/computed tomography in diagnosis of fibrous dysplasia. ( 28738834 )
2017
44
McCune-Albright syndrome-associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia. ( 28612379 )
2017
45
The Status of Affected Infraorbital Nerve and Inferior Alveolar Nerve in Patients With Jaw Fibrous Dysplasia: A Clinical and Radiographic Evaluation. ( 28708654 )
2017
46
Fibrous Dysplasia Mimicking Malignancy on 68Ga-DOTATATE PET/CT. ( 28072620 )
2017
47
Fibrous dysplasia mimicking bone metastasis on (68)GA-PSMA PET/MRI. ( 28488027 )
2017
48
Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain. ( 28676838 )
2017
49
Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification. ( 28588314 )
2017
50
Clinical significance of increased serum levels of FGF-23 in fibrous dysplasia. ( 29295788 )
2017

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 16)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.67 BGLAP GNAS IGF1
2 cellular protein metabolic process GO:0044267 9.67 CALCA FGF23 IGF1 PRL
3 bone mineralization GO:0030282 9.56 BGLAP IBSP
4 biomineral tissue development GO:0031214 9.55 BGLAP IBSP
5 regulation of multicellular organism growth GO:0040014 9.54 IGF1 PRL
6 positive regulation of JAK-STAT cascade GO:0046427 9.52 GH1 PRL
7 regulation of bone mineralization GO:0030500 9.51 BGLAP FGF23
8 bone development GO:0060348 9.5 BGLAP GNAS SPARC
9 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.48 GH1 PRL
10 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.46 GH1 IGF1
11 cellular response to vitamin D GO:0071305 9.43 BGLAP FGF23
12 cellular response to growth factor stimulus GO:0071363 9.43 BGLAP IBSP SPARC
13 regulation of signaling receptor activity GO:0010469 9.43 CALCA FGF23 GH1 IGF1 PRL SST
14 response to gravity GO:0009629 9.4 BGLAP SPARC
15 response to heat GO:0009408 9.33 CALCA IGF1 SST
16 response to nutrient levels GO:0031667 8.92 BGLAP GH1 IGF1 PRL

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
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49 NCI
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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
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