MCID: FBR009
MIFTS: 45

Fibrous Dysplasia malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Fibrous Dysplasia

Aliases & Descriptions 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 individuals with this condition do not have any symptoms, others may have bone pain, abnormally shaped bones, or an increased risk of fractures (broken bones). 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 indicated for fractures or to correct misshapen bones.  last updated: 4/4/2016

MalaCards based summary : Fibrous Dysplasia, also known as fibrous dysplasia of bone, is related to monostotic fibrous dysplasia and mccune-albright syndrome, somatic, mosaic. 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 testes, 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 195)
id Related Disease Score Top Affiliating Genes
1 monostotic fibrous dysplasia 12.4
2 mccune-albright syndrome, somatic, mosaic 12.0
3 panostotic fibrous dysplasia 12.0
4 fibrous dysplasia/mccune-albright syndrome 12.0
5 osteofibrous dysplasia 11.6
6 mazabraud syndrome 11.5
7 cherubism 11.2
8 congenital tricuspid stenosis 10.3 GH1 PRL
9 intermittent squint 10.3 GH1 PRL
10 glaucoma, hereditary adult type 1a 10.3 GH1 PRL
11 olfactory nerve neoplasm 10.2 GH1 PRL
12 sarcomatosis 10.2 BGLAP SPARC
13 epilepsy, idiopathic generalized 14 10.2 BGLAP FGF23
14 grin2a-related speech disorders and epilepsy 10.2 GH1 GNAS PRL
15 critical congenital heart disease 10.2 GH1 IGF1
16 microtia, hearing impairment, and cleft palate 10.2 GH1 IGF1
17 serous cystadenocarcinoma 10.2 BGLAP SPARC
18 spondylometaphyseal dysplasia, megarbane-dagher-melike type 10.2 GH1 IGF1
19 fibroma 10.2
20 aneurysm 10.2
21 aneurysmal bone cysts 10.2
22 ossifying fibroma 10.2
23 pemphigus vegetans 10.2 GH1 SST
24 african histoplasmosis 10.2 PRL SST
25 dacryoadenitis 10.2 IGF1 PRL
26 primary effusion lymphoma 10.2 GH1 GNAS IGF1
27 caudal regression syndrome 10.1 GH1 IGF1 PRL
28 adult ependymoblastoma 10.1 BGLAP CALCA
29 acth-independent macronodular adrenal hyperplasia 10.1 BGLAP GNAS SPARC
30 mucopolysaccharidosis type vi 10.1 GH1 IGF1 PRL
31 hypophosphatasia, adult 10.1 BGLAP CALCA
32 ovarian insufficiency due to fsh resistance 10.1 BGLAP GNAS SPARC
33 x-linked hereditary ataxia 10.1 FGF23 IBSP
34 extragonadal nonseminomatous germ cell tumor 10.1 PRL SST
35 capillary lymphangioma 10.1 GH1 IGF1 PRL
36 cervix squamous papilloma 10.1 GH1 IGF1 PRL
37 epileptic encephalopathy, early infantile, 24 10.1 GH1 IGF1
38 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 10.1 GH1 IGF1 PRL
39 cockayne syndrome type i 10.1 CALCA PRL
40 vaginal adenoma 10.1 IGF1 SST
41 hypogonadism cardiomyopathy 10.1 CALCA GH1
42 cervicitis 10.1
43 nonparalytic poliomyelitis 10.1 PRL SST
44 mesenchymal cell neoplasm 10.1 BGLAP CALCA GNAS
45 extrahepatic bile duct adenocarcinoma 10.1 BGLAP GH1 IGF1
46 cerebral hemisphere lipoma 10.1 GH1 PRL SST
47 iliac vein thrombophlebitis 10.1 APC PRL
48 thoracic benign neoplasm 10.1 CDC73 GNAS SPARC
49 wells-jankovic syndrome 10.1 CALCA SST
50 pulmonary neuroendocrine tumor 10.1 GH1 PRL 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 APC CDC73 FGF23 GNAS IGF1 PRL
3 limbs/digits/tail MP:0005371 9.63 SPARC APC FGF23 GNAS IBSP IGF1
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 23)
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
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
21
Histamine Approved, Investigational 75614-87-8, 51-45-6 774
22
Histamine Phosphate 51-74-1 65513
23 Neurotransmitter Agents

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3
2 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3
3 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2
4 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2
5 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2
6 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2
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
9 Effects of Letrozole on Precocious Puberty Due to McCune Albright Syndrome Completed NCT00006174 Phase 1
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 Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Recruiting NCT00001727
17 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, Testes, Myeloid, B Cells, Tongue, Pituitary

Publications for Fibrous Dysplasia

Articles related to Fibrous Dysplasia:

(show top 50) (show all 766)
id Title Authors Year
1
Prevalence of Different Forms and Involved Bones of Craniofacial Fibrous Dysplasia. ( 27922965 )
2017
2
Functional and radiological outcomes of a minimally invasive surgical approach to monostotic fibrous dysplasia. ( 28057011 )
2017
3
Fibrous Dysplasia Mimicking Malignancy on 68Ga-DOTATATE PET/CT. ( 28072620 )
2017
4
Orbitocranial Fibrous Dysplasia: Outcome of Radical Resection and Immediate Reconstruction With Titanium Mesh and Pericranial Flap. ( 28005795 )
2016
5
Outcome of Long-Term Bisphosphonate Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia. ( 27649526 )
2016
6
Malignant transformation of polyostotic fibrous dysplasia with aberrant keratin expression. ( 27771377 )
2016
7
Use of Zoledronic Acid in Paediatric Craniofacial Fibrous Dysplasia. ( 27747122 )
2016
8
Fibrous dysplasia of bone: craniofacial and dental implications. ( 27493082 )
2016
9
Three-Dimensional Printing of Reduction Template in the Contouring of Craniofacial Fibrous Dysplasia. ( 27513769 )
2016
10
A rare location for fibrous dysplasia. The middle turbinate. ( 26898761 )
2016
11
Craniofacial Fibrous Dysplasia: Retrospective Study on the Relationship Between the Tumor Volume Changes and the Circulating Serum Calcitonin and Serum Alkaline Phosphatase. ( 27922893 )
2016
12
Ureter and Nerve Root Compression Secondary to Expansile Fibrous Dysplasia of the Transverse Process. ( 26866323 )
2016
13
Conversion of Aneurysmal Bone Cyst into Fibrous Dysplasia: A Rare Pediatric Case Report. ( 27408470 )
2016
14
Reply: Fibrous Dysplasia: Management of the Optic Canal. ( 26890521 )
2016
15
Surgical Management of Polyostotic Craniofacial Fibrous Dysplasia: Long-Term Outcomes and Predictors for Postoperative Regrowth. ( 27219238 )
2016
16
Fibrous Dysplasia Presenting as a Cold Spot in 18F-FLT PET/CT Imaging. ( 27055128 )
2016
17
Fibrous dysplasia with secondary osteosarcoma - A rare presentation of a common disease. ( 27147164 )
2016
18
A Rare Case of Monostotic Spinal Fibrous Dysplasia Mimicking Solitary Metastatic Lesion of Thyroid Carcinoma. ( 27540330 )
2016
19
Fibrous dysplasia. Clinical review and therapeutic management. ( 27765282 )
2016
20
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
21
Fibrous Dysplasia and Medication-Related Osteonecrosis of the Jaw. ( 27137436 )
2016
22
Osteosarcoma of the Mandible Arising in Fibrous Dysplasia-A Case Report. ( 27425882 )
2016
23
Recurrent Monostotic Fibrous Dysplasia in the Mandible. ( 27340572 )
2016
24
Orbitocranial Fibrous Dysplasia: Outcome of Radical Resection and Immediate Reconstruction With Titanium Mesh and Pericranial Flap. ( 27617807 )
2016
25
Monostotic fibrous dysplasia of the metacarpal: a case report. ( 28050548 )
2016
26
Fibrous dysplasia of the maxilla in an elderly female: Case report on a 14-year quiescent phase. ( 28035304 )
2016
27
Prognostic Factors From an Epidemiologic Evaluation of Fibrous Dysplasia of Bone in a Modern Cohort: The FRANCEDYS Study. ( 27340799 )
2016
28
Differentiating Hyperostotic Temporal Bone Meningioma En Plaque and Fibrous Dysplasia on Computed Tomographic Imaging. ( 27585392 )
2016
29
Simultaneous decompression of the orbital lateral wall and optic canal for fibrous dysplasia in early adolescence. ( 27375988 )
2016
30
Fibrous Dysplasia of the Temporal Bone with External Auditory Canal Stenosis and Secondary Cholesteatoma. ( 27340999 )
2016
31
Connection of a hip prosthesis and an intramedullary nail as a special solution in a subtrochanteric femoral fracture with fibrous dysplasia. ( 27105140 )
2016
32
What Is the Role of Allogeneic Cortical Strut Grafts in the Treatment of Fibrous Dysplasia of the Proximal Femur? ( 27020436 )
2016
33
Application of Reverse Engineering Template for the Correction of Asymmetric Deformity of Maxillofacial Fibrous Dysplasia. ( 26900746 )
2016
34
CORR Insights (Ar) : What Is the Role of Allogeneic Cortical Strut Grafts in the Treatment of Fibrous Dysplasia of the Proximal Femur? ( 27106129 )
2016
35
Odontogenic Sinusitis Caused by an Inflammation of a Dentigerous Cyst and Subsequent Finding of a Fibrous Dysplasia. A Case Report. ( 28077969 )
2016
36
Pseudomyogenic hemangioendothelioma secondary to fibrous dysplasia of the left lower extremity in a 14-year-old female: a case report. ( 27468782 )
2016
37
Erratum to: What Is the Role of Allogeneic Cortical Strut Grafts in the Treatment of Fibrous Dysplasia of the Proximal Femur? ( 27084715 )
2016
38
Craniospinal Polyostotic Fibrous Dysplasia, Aneurysmal Bone Cysts, and Chiari Type 1 Malformation Coexistence in a Patient with McCune-Albright Syndrome. ( 27161212 )
2016
39
Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives. ( 27492469 )
2016
40
Fibrocartilaginous Dysplasia of the Bone: A Rare Variant of Fibrous Dysplasia. ( 26918216 )
2016
41
Polyostotic Fibrous Dysplasia in McCune-Albright Syndrome Demonstrated on 68Ga-DOTATATE PET/CT. ( 27740949 )
2016
42
Inhibition of fibrous dysplasia via blocking GsI+ with suramin sodium loaded with an alendronate-conjugated polymeric drug delivery system. ( 27180636 )
2016
43
Lack of scintigraphic response of fibrous dysplasia to bisphosphonate treatment. ( 27411478 )
2016
44
Fibrous Dysplasia: Management of the Optic Canal. ( 26890512 )
2016
45
Headache Attributed to Fibrous Dysplasia of the Ethmoid Bone Mimicking Menstrual Migraine Without Aura. ( 27213743 )
2016
46
Maxillofacial fibrous dysplasia: a diagnostic challenge. ( 27358102 )
2016
47
McCune Albright syndrome - association of fibrous dysplasia, cafAc-au-lait skin spots and hyperthyroidism - case report. ( 27857528 )
2016
48
Celecoxib treatment of fibrous dysplasia (FD) in a human FD cell line and FD-like lesions in mice with protein kinase A (PKA) defects. ( 27498419 )
2016
49
An Atypical Presentation of Multiple Central Osteomas Mimicking Craniofacial Fibrous Dysplasia - A Pictorial Essay. ( 28050513 )
2016
50
Pro-fibrotic effects of PFKFB4-mediated glycolytic reprogramming in fibrous dysplasia. ( 27614159 )
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 16)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.71 BGLAP GNAS IGF1
2 response to drug GO:0042493 9.71 BGLAP GNAS PRL SST
3 response to ethanol GO:0045471 9.65 BGLAP PRL SPARC
4 biomineral tissue development GO:0031214 9.56 BGLAP IBSP
5 cellular protein metabolic process GO:0044267 9.56 CALCA FGF23 IGF1 PRL
6 regulation of multicellular organism growth GO:0040014 9.55 IGF1 PRL
7 regulation of bone mineralization GO:0030500 9.52 BGLAP FGF23
8 positive regulation of JAK-STAT cascade GO:0046427 9.51 GH1 PRL
9 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.49 GH1 IGF1
10 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.46 GH1 PRL
11 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.43 GH1 IGF1
12 cellular response to vitamin D GO:0071305 9.37 BGLAP FGF23
13 cellular response to growth factor stimulus GO:0071363 9.33 BGLAP IBSP SPARC
14 response to gravity GO:0009629 9.32 BGLAP SPARC
15 bone development GO:0060348 9.13 BGLAP GNAS SPARC
16 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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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