MCID: FBR009
MIFTS: 44

Fibrous Dysplasia

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Fibrous Dysplasia

MalaCards integrated aliases for Fibrous Dysplasia:

Name: Fibrous Dysplasia 12 50 52 14 69
Fibrous Dysplasia of Bone 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0080031
ICD10 33 M85.0

Summaries for Fibrous Dysplasia

NIH Rare Diseases : 50 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 fibroma and monostotic fibrous 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, bone marrow and brain, 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.

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 210)
id Related Disease Score Top Affiliating Genes
1 fibroma 30.5 GNAS SST
2 monostotic fibrous dysplasia 12.4
3 mccune-albright syndrome, somatic, mosaic 12.0
4 fibrous dysplasia/mccune-albright syndrome 12.0
5 panostotic fibrous dysplasia 11.9
6 osteofibrous dysplasia 11.6
7 mazabraud syndrome 11.4
8 cherubism 11.2
9 osteoglophonic dysplasia 10.7
10 parathyroid transitional clear cell adenoma 10.7 BGLAP SPARC
11 spastic ataxia 10.6 FGF23 IBSP
12 spinocerebellar ataxia 4 10.6 BGLAP FGF23
13 papillary carcinoma 10.6 BGLAP SPARC
14 prediabetes syndrome 10.6 BGLAP FGF23
15 breast epithelioid hemangioma 10.6 BGLAP SPARC
16 g6pc3 deficiency 10.6 GH1 PRL
17 gastric antral vascular ectasia 10.5 FGF23 GNAS
18 aortic valve atresia 10.5 GH1 PRL
19 intermittent squint 10.5 GH1 PRL
20 lactic acidosis 10.5 GH1 PRL
21 glassy cell carcinoma of the cervix 10.5 GH1 PRL
22 obesity, severe bmiq9 10.5 BGLAP GNAS
23 mixed cell type adenoma of parathyroid 10.4 BGLAP CALCA
24 lipase deficiency, combined 10.4 GH1 IGF1
25 sensory organ benign neoplasm 10.4 CDC73 GNAS
26 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 10.4 GH1 IGF1
27 acth-independent macronodular adrenal hyperplasia 10.4 BGLAP GNAS SPARC
28 mitochondrial myopathy with lactic acidosis 10.4 BGLAP GNAS SPARC
29 hypophosphatasia, adult 10.4 BGLAP CALCA
30 ulcerative blepharitis 10.4 IGF1 PRL
31 aromatase excess syndrome 10.4 BGLAP GH1
32 alpha chain disease 10.4 CDC73 GNAS
33 pityriasis rotunda 10.4 GH1 PRL
34 hypodermyasis 10.4 CALCA GH1
35 endemic goiter 10.3 BGLAP CALCA
36 immune system organ benign neoplasm 10.3 IGF1 PRL
37 growth hormone insensitivity, partial 10.3 GH1 IGF1
38 secondary lacrimal atrophy 10.3 CDC73 GNAS
39 lung lymphoma 10.3 CALCA SPARC
40 meningocele 10.3 APC PRL
41 47,xyy syndrome 10.3 GH1 PRL
42 xanthomatosis 10.3 BGLAP CALCA GNAS
43 epilepsy idiopathic generalized 8 10.2 CALCA GNAS
44 otosclerosis 10.2 BGLAP CALCA GNAS
45 pes anserinus tendinitis or bursitis 10.2 BGLAP CALCA FGF23
46 tinea unguium 10.2 BGLAP CALCA FGF23
47 astrakhan spotted fever 10.2 BGLAP CALCA FGF23
48 mild pre-eclampsia 10.2 BGLAP CALCA FGF23
49 schizoaffective disorder 10.2 BGLAP CALCA IBSP
50 renal pelvis carcinoma 10.2 GNAS SST

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
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.97 APC CDC73 FGF23 GNAS IBSP IGF1
2 integument MP:0010771 9.8 IGF1 PRL SPARC APC CDC73 FGF23
3 limbs/digits/tail MP:0005371 9.63 APC FGF23 GNAS IBSP IGF1 SPARC
4 neoplasm MP:0002006 9.35 APC GNAS IGF1 PRL SPARC
5 skeleton MP:0005390 9.17 APC FGF23 GNAS IBSP IGF1 SPARC

Drugs & Therapeutics for Fibrous Dysplasia

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

(show all 24)
id 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 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 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 75614-87-8, 51-45-6 774
23
Histamine Phosphate 51-74-1 65513
24 Neurotransmitter Agents

Interventional clinical trials:

(show all 18)

id 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 Histamine Responsiveness in McCune-Albright Syndrome Unknown status NCT00318097
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 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:

39
Bone, Bone Marrow, Brain, Breast, B Cells, Myeloid, Pituitary

Publications for Fibrous Dysplasia

Articles related to Fibrous Dysplasia:

(show top 50) (show all 786)
id Title Authors Year
1
18F-FDG PET/CT of Secondary Epithelioid Angiosarcoma of the Proximal Femur in a Patient With Polyostotic Fibrous Dysplasia. ( 28806239 )
2017
2
Post-traumatic fibrous dysplasia of the parietal bone: A rare entity. ( 28761541 )
2017
3
Fibrous dysplasia mimicking bone metastasis on (68)GA-PSMA PET/MRI. ( 28488027 )
2017
4
The Status of Affected Infraorbital Nerve and Inferior Alveolar Nerve in Patients With Jaw Fibrous Dysplasia: A Clinical and Radiographic Evaluation. ( 28708654 )
2017
5
Intramuscular myxoma and fibrous dysplasia of bone presents as Mazabraud's syndrome. ( 28608487 )
2017
6
Functional and radiological outcomes of a minimally invasive surgical approach to monostotic fibrous dysplasia. ( 28057011 )
2017
7
Image Findings of Polyostotic Fibrous Dysplasia Mimicking Metastasis in F-18 FDG Positron Emission Tomography/Computed Tomography. ( 28533645 )
2017
8
Value of (99m)Tc-MDP SPECT/CT and (18)F-FDG PET/CT scanning in the evaluation of malignantly transformed fibrous dysplasia. ( 28721303 )
2017
9
Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification. ( 28588314 )
2017
10
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
11
McCune-Albright syndrome-associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia. ( 28612379 )
2017
12
Characteristics of sinonasal fibrous dysplasia: experience from a single department. ( 28830313 )
2017
13
Prevalence of Different Forms and Involved Bones of Craniofacial Fibrous Dysplasia. ( 27922965 )
2017
14
The value of (99m)Tc-methylene diphosphonate single photon emission computed tomography/computed tomography in diagnosis of fibrous dysplasia. ( 28738834 )
2017
15
Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome. ( 28660402 )
2017
16
Determinants of impaired quality of life in patients with fibrous dysplasia. ( 28449700 )
2017
17
Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia. ( 28856726 )
2017
18
Computed Tomography in Craniofacial Fibrous Dysplasia: A Case Series with Review of Literature and Classification Update. ( 28839487 )
2017
19
Polyostotic craniofacial fibrous dysplasia with bizarre radiologic finding: Mandible, anterior skull base, frontal, temporal, parietal, and occipital bones involvement. ( 28840064 )
2017
20
Fibrous Dysplasia Mimicking Malignancy on 68Ga-DOTATATE PET/CT. ( 28072620 )
2017
21
Giant Hemifacial Fibrous Dysplasia Functional Treatment and Place of Pamidronate. ( 28468152 )
2017
22
Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain. ( 28676838 )
2017
23
Might Trauma Be a Triggering Factor for Craniofacial Fibrous Dysplasia? ( 28468170 )
2017
24
Pseudomyogenic hemangioendothelioma secondary to fibrous dysplasia of the left lower extremity in a 14-year-old female: a case report. ( 27468782 )
2016
25
Monostotic fibrous dysplasia of the metacarpal: a case report. ( 28050548 )
2016
26
A rare location for fibrous dysplasia. The middle turbinate. ( 26898761 )
2016
27
Outcome of Long-Term Bisphosphonate Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia. ( 27649526 )
2016
28
Odontogenic Sinusitis Caused by an Inflammation of a Dentigerous Cyst and Subsequent Finding of a Fibrous Dysplasia. A Case Report. ( 28077969 )
2016
29
Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia. ( 27894323 )
2016
30
Fibrous dysplasia with secondary osteosarcoma - A rare presentation of a common disease. ( 27147164 )
2016
31
Fibrocartilaginous Dysplasia of the Bone: A Rare Variant of Fibrous Dysplasia. ( 26918216 )
2016
32
Fibrous dysplasia of the maxilla in an elderly female: Case report on a 14-year quiescent phase. ( 28035304 )
2016
33
Fibrous Dysplasia and Medication-Related Osteonecrosis of the Jaw. ( 27137436 )
2016
34
Lack of scintigraphic response of fibrous dysplasia to bisphosphonate treatment. ( 27411478 )
2016
35
McCune Albright syndrome - association of fibrous dysplasia, cafAc-au-lait skin spots and hyperthyroidism - case report. ( 27857528 )
2016
36
Orbitocranial Fibrous Dysplasia: Outcome of Radical Resection and Immediate Reconstruction With Titanium Mesh and Pericranial Flap. ( 27617807 )
2016
37
Fibrous Dysplasia of the Temporal Bone with External Auditory Canal Stenosis and Secondary Cholesteatoma. ( 27340999 )
2016
38
Headache Attributed to Fibrous Dysplasia of the Ethmoid Bone Mimicking Menstrual Migraine Without Aura. ( 27213743 )
2016
39
Fibrous Dysplasia Presenting as a Cold Spot in 18F-FLT PET/CT Imaging. ( 27055128 )
2016
40
Recurrent Monostotic Fibrous Dysplasia in the Mandible. ( 27340572 )
2016
41
"Well Digging" Subcraniotomy Strategy with Navigation for Optic Nerve Decompression in Frontoorbital Fibrous Dysplasia: Preliminary Experience. ( 27975011 )
2016
42
Fibrous Dysplasia: Management of the Optic Canal. ( 26890512 )
2016
43
Fibrous dysplasia. Clinical review and therapeutic management. ( 27765282 )
2016
44
Craniofacial Fibrous Dysplasia: Retrospective Study on the Relationship Between the Tumor Volume Changes and the Circulating Serum Calcitonin and Serum Alkaline Phosphatase. ( 27922893 )
2016
45
CORR Insights (Ar) : What Is the Role of Allogeneic Cortical Strut Grafts in the Treatment of Fibrous Dysplasia of the Proximal Femur? ( 27106129 )
2016
46
Orbitocranial Fibrous Dysplasia: Outcome of Radical Resection and Immediate Reconstruction With Titanium Mesh and Pericranial Flap. ( 28005795 )
2016
47
Three-Dimensional Printing of Reduction Template in the Contouring of Craniofacial Fibrous Dysplasia. ( 27513769 )
2016
48
Prognostic Factors From an Epidemiologic Evaluation of Fibrous Dysplasia of Bone in a Modern Cohort: The FRANCEDYS Study. ( 27340799 )
2016
49
Fibrous dysplasia of bone: craniofacial and dental implications. ( 27493082 )
2016
50
Ureter and Nerve Root Compression Secondary to Expansile Fibrous Dysplasia of the Transverse Process. ( 26866323 )
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:

id 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 13)
id 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 9.56 CALCA FGF23 IGF1 PRL
3 biomineral tissue development GO:0031214 9.52 BGLAP IBSP
4 regulation of multicellular organism growth GO:0040014 9.51 IGF1 PRL
5 regulation of bone mineralization GO:0030500 9.48 BGLAP FGF23
6 positive regulation of JAK-STAT cascade GO:0046427 9.46 GH1 PRL
7 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.43 GH1 PRL
8 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.4 GH1 IGF1
9 cellular response to vitamin D GO:0071305 9.37 BGLAP FGF23
10 cellular response to growth factor stimulus GO:0071363 9.33 BGLAP IBSP SPARC
11 response to gravity GO:0009629 9.32 BGLAP SPARC
12 bone development GO:0060348 9.13 BGLAP GNAS SPARC
13 response to heat GO:0009408 8.8 CALCA IGF1 SST

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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