MCID: FBR009
MIFTS: 54

Fibrous Dysplasia malady

Rare diseases, Bone diseases categories

Summaries for Fibrous Dysplasia

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NIH Rare Diseases:43 Fibrous dysplasia is a progressive bone disorder that is characterized by the replacement of normal bone with weaker tissues, such as fibrous tissue and woven bone.  it may involve one bone (monostotic) or multiple bones (polyostotic).  though many individuals with this condition do not have any symptoms, others may have bone pain, abnormally shaped bones, or an increased risk of breaking bones.  this condition can occur alone or as part of a genetic disorder, such as mccune-albright syndrome. last updated: 8/25/2011

MalaCards based summary: Fibrous Dysplasia, also known as fibrous dysplasia of bone, is related to mccune-albright syndrome, somatic, mosaic and gigantism. An important gene associated with Fibrous Dysplasia is GNAS (GNAS complex locus), and among its related pathways are Interleukin-11 Signaling Pathway and Osteoblast Signaling. The compounds pyridinoline and pphp have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung, and related mouse phenotypes are adipose tissue and hearing/vestibular/ear.

Disease Ontology:10 A bone remodeling disease that results in the destruction of normal bone and replacing it with fibrous bone tissue.

Aliases & Classifications for Fibrous Dysplasia

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Fibrous Dysplasia, Aliases & Descriptions:

Name: Fibrous Dysplasia 10 43 12 45 62
Fibrous Dysplasia of Bone 43 62
Osteofibrous Dysplasia 43 45
Anomaly of Puberty or/and Menstrual Cycle of Genetic Origin 43
 
Intracortical Fibrous Dysplasia 43
Jaffe-Campanacci Syndrome 43
Ossifying Fibroma 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Bone diseases


External Ids:

Disease Ontology10 DOID:0080031
ICD1027 M85.0

Related Diseases for Fibrous Dysplasia

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

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1mccune-albright syndrome, somatic, mosaic31.0FGF23, GNAS
2gigantism30.7GH1, GNAS
3acromegaly30.6GH1, APC, GNAS, BGLAP
4hyperparathyroidism30.5BGLAP, FGF23
5primary hyperparathyroidism30.4IBSP, FGF23, BGLAP
6hyperprolactinemia30.3GNAS, GH1
7osteogenesis imperfecta30.3IBSP, BGLAP
8precocious puberty30.3GH1, APC, GNAS
9osteomalacia30.2BGLAP, GNAS, FGF23
10prolactinoma30.1GNAS, GH1
11goiter30.0BGLAP, GNAS
12osteoporosis30.0BGLAP, IBSP
13hypophosphatemia30.0BGLAP, FGF23
14giant cell tumor30.0FGF23, BGLAP
15pituitary adenoma30.0APC, GH1, GNAS
16rickets30.0BGLAP, FGF23
17hypercalcemia30.0FGF23, BGLAP
18adenoma30.0GNAS, GH1, APC
19hyperthyroidism30.0FGF23, GH1, GNAS, BGLAP
20prostate cancer30.0IBSP, BGLAP, GNAS, APC
21breast cancer29.9IBSP, GH1, MSX2, APC
22monostotic fibrous dysplasia11.1
23fibromatosis multiple non ossifying10.6
24fibroma10.6
25ossifying fibroma10.6
26aneurysmal bone cysts10.6
27aneurysm10.6
28cherubism10.5
29cervicitis10.5
30pyogenic granuloma10.5
31fibrous dysplasia/mccune-albright syndrome10.5
32panostotic fibrous dysplasia10.4
33gingivitis10.4
34sinusitis10.4
35periodontitis10.3
36pseudoarthrosis10.3
37sarcoma10.3
38blindness10.2
39mazabraud syndrome10.2
40buschke-ollendorff syndrome10.2
41retinoblastoma10.2
42neurofibromatosis, type 110.2
43psammomatous meningioma10.2
44fanconi syndrome10.2
45exophthalmos10.2
46bilateral retinoblastoma10.2
47chronic apical periodontitis10.2
48orbital cellulitis10.2
49juxtacortical chondrosarcoma10.2
50cellulitis10.2

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



Diseases related to fibrous dysplasia

Symptoms for Fibrous Dysplasia

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Drugs & Therapeutics for Fibrous Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Fibrous Dysplasia

Search NIH Clinical Center for Fibrous Dysplasia

Genetic Tests for Fibrous Dysplasia

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Anatomical Context for Fibrous Dysplasia

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MalaCards organs/tissues related to Fibrous Dysplasia:

33
Bone, Bone marrow, Lung, Breast, Prostate, Testes, Myeloid, B cells, Tongue, Pituitary

Animal Models for Fibrous Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Fibrous Dysplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2GH1, APC, GNAS
2MP:00053778.5GNAS, MSX2, APC
3MP:00053798.4GNAS, APC, MSX2, GH1
4MP:00107718.1APC, MSX2, FGF23, GNAS
5MP:00053717.8IBSP, GNAS, APC, MSX2, FGF23
6MP:00053907.7FGF23, IBSP, MSX2, APC, GNAS
7MP:00053787.4APC, GH1, MSX2, GNAS, IBSP, FGF23

Publications for Fibrous Dysplasia

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Articles related to Fibrous Dysplasia:

(show top 50)    (show all 678)
idTitleAuthorsYear
1
Aneurysmal bone cyst with fibrous dysplasia resulting in partial third nerve palsy. (25863863)
2015
2
Changing Pattern of Femoral Deformity During Growth in Polyostotic Fibrous Dysplasia of the Bone: An Analysis of 46 Cases. (25887818)
2015
3
Case report: Fibrous dysplasia of the navicular bone treated with excision of navicular and talo-cuneiform arthrodesis. (25542678)
2015
4
Treatment protocols for growth hormone-secreting pituitary adenomas combined with craniofacial fibrous dysplasia: A case report of atypical McCune-Albright syndrome. (25120617)
2014
5
En bloc resection and bone graft: does it alter the natural history of monostotic expansile fibrous dysplasia in children? (25407316)
2014
6
Monostotic fibrous dysplasia of the mandible. (24984642)
2014
7
An unusual case of intraosseous vascular malformation of the maxilla mimicking fibrous dysplasia: a case report and literature review on imaging features of intraosseous vascular anomalies of the jaw. (24940806)
2014
8
Gene expression profiling of craniofacial fibrous dysplasia reveals ADAMTS2 overexpression as a potential marker. (25674217)
2014
9
Fibrous dysplasia of the craniofacial bones. (23918916)
2013
10
Low-grade central osteosarcoma of distal femur, resembling fibrous dysplasia. (24147271)
2013
11
Fibrous dysplasia and central giant cell granuloma: a report of hybrid lesion with its review and hypotheticated pathogenesis. (23814754)
2013
12
Isolated fibrous dysplasia of the inferior turbinate. (22698592)
2013
13
Clinical guidelines for the management of craniofacial fibrous dysplasia. (22640797)
2012
14
Peritrabecular clefting in fibrous dysplasia of the jaws: an important histopathologic feature for differentiating fibrous dysplasia from central ossifying fibroma. (22986246)
2012
15
CT and MRI of fibrous dysplasia of the spine. (22167510)
2012
16
An extensive hemimelic polyostotic fibrous dysplasia: a case report. (21331571)
2012
17
Resection of the entire first rib for fibrous dysplasia using a combined posterior-transmanubrial approach. (22614525)
2012
18
Long-term efficacy of oral alendronate therapy in an elderly patient with polyostotic fibrous dysplasia: A case report. (22848294)
2011
19
Dedifferentiated adamantinoma associated with fibrous dysplasia. (22000283)
2011
20
Fibrous dysplasia--a 13-year retrospective radiographic analysis in a south Indian population. (21697153)
2011
21
Fibrous dysplasia and aneurysmal bone cyst of the skull base presenting with blindness: a report of a rare locally aggressive example. (21396116)
2011
22
Monofocal maxillary fibrous dysplasia with orbital, nasal and oral obstruction. (19540186)
2010
23
Periostin, a novel marker of intramembranous ossification, is expressed in fibrous dysplasia and in c-Fos-overexpressing bone lesions. (18799196)
2009
24
Secondary aneurysmal bone cyst in fibrous dysplasia of the proximal femur. (19472953)
2009
25
Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions. (17622477)
2008
26
Oral rehabilitation with endosseous implants in a patient with fibrous dysplasia (McCune-Albright syndrome): a case report. (19022142)
2008
27
Attention deficiency hyperactivity disorder and sphenoid bone fibrous dysplasia association in a boy: SPECT/SPECT fusion imaging. (18075425)
2007
28
Fibrous dysplasia of the clivus, a case report. (21503248)
2007
29
Craniofacial fibrous dysplasia and hypophysial microadenoma with Hodgkin's lymphoma: unusual involution of an extensive case. (16860225)
2006
30
Surgery for fibrous dysplasia. (17228997)
2006
31
Activating Gs a mutation rarely occurs in musculoskeletal tumors other than fibrous dysplasia. (16619580)
2006
32
Misleading clavicular osteolytic lesion revealing fibrous dysplasia. (16626990)
2006
33
Isolated fibrous dysplasia of the sphenoid sinus. (16405278)
2005
34
Oral pathology quiz # 43. Case number 1. Fibrous dysplasia. (15793915)
2004
35
Aneurysmal bone cyst arising from fibrous dysplasia of the frontal bone (2004:2b). (15162799)
2004
36
Chondroblastoma of the acromion mimicking fibrous dysplasia. (15669467)
2004
37
Polyostotic fibrous dysplasia with auditory impairment and delayed menarche in a Nigerian. (15298467)
2003
38
Natural history and treatment of fibrous dysplasia of bone: a multicenter clinicopathologic study promoted by the European Pediatric Orthopaedic Society. (12703030)
2003
39
Oral bisphosphonates in polyostotic fibrous dysplasia. (14530553)
2003
40
Magnetic resonance imaging and [11C]methyl-L-methionine positron emission tomography of fibrous dysplasia--two case reports. (12206488)
2002
41
Surgical treatment of fibrous dysplasia of the cranio-maxillo-facial area. Review of the literature and personal experience form 1984 to 1999. (12434124)
2002
42
Cellular and molecular biology of fibrous dysplasia]. (11910936)
2001
43
Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. (9267696)
1997
44
Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation. (9403710)
1997
45
Residents' corner. Answer to case of the month #12. McCune-Albright syndrome (polyostotic fibrous dysplasia). (1562893)
1992
46
Empty sella syndrome occurring with polyostotic fibrous dysplasia of the midface: report of a case. (3507319)
1987
47
Ehlers-Danlos syndrome with monostotic fibrous dysplasia. (529175)
1979
48
Pseudopseudohypoparathyroidism with fibrous dysplasia. (1119829)
1975
49
Familial polyostotic fibrous dysplasia. (1060033)
1975
50
Effects of calcitonin in metastatic bone carcinoma, osteoporosis, polyostotic fibrous dysplasia and hypercalcemia. (4254451)
1971

Variations for Fibrous Dysplasia

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Expression for genes affiliated with Fibrous Dysplasia

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Search GEO for disease gene expression data for Fibrous Dysplasia.

Pathways for genes affiliated with Fibrous Dysplasia

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Compounds for genes affiliated with Fibrous Dysplasia

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Compounds related to Fibrous Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1pyridinoline4510.5GH1
2pphp4510.1GNAS, APC
3anastrozole45 51 1311.9BGLAP, GH1
4salbutamol45 51 30 26 1313.9GH1, APC
5alendronate45 51 1311.8BGLAP, GH1
6ibandronate45 1310.8BGLAP, IBSP
7alizarin459.8IBSP, BGLAP
8pertussis459.8APC, GH1
9chitosan459.8BGLAP, IBSP
10sevelamer459.8BGLAP, FGF23
11titanium459.8IBSP, BGLAP
12fluoride459.7GH1, BGLAP
13zoledronic acid459.7BGLAP, IBSP
14raloxifene45 51 30 1312.7BGLAP, GH1
15isoproterenol45 1310.6APC, GH1, GNAS
16acth459.6APC, GH1, GNAS
17clonidine45 51 30 1312.6BGLAP, GH1
18guanine45 26 1311.6GNAS, GH1, APC
1925-hydroxyvitamin d459.6BGLAP, FGF23
20phosphorus459.6FGF23, BGLAP
21norepinephrine45 26 1311.5APC, GNAS, GH1
22gnrh459.5BGLAP, GH1, GNAS
23octreotide45 61 30 1312.5FGF23, GH1, GNAS
24deoxypyridinoline459.5GH1, BGLAP, IBSP
25procollagen459.4IBSP, GH1, BGLAP
26hydroxyproline45 26 1311.4IBSP, BGLAP
27dopamine45 30 26 1312.3APC, GH1, GNAS
28calcitriol45 61 26 1312.3FGF23, GH1, BGLAP
29estradiol45 26 1311.3IBSP, BGLAP, GH1
30hydroxyapatite459.2BGLAP, IBSP, FGF23
31phosphoserine45 2610.2IBSP, APC
32leucine459.2GNAS, IBSP, GH1
33forskolin45 51 1311.1APC, GNAS, IBSP, GH1
34thymidine45 2610.1GH1, IBSP, GNAS
35glutamine459.0GH1, APC, FGF23, GNAS
36pge2459.0BGLAP, APC, GNAS, IBSP
37paraffin459.0BGLAP, IBSP, APC, GH1
38cysteine459.0GNAS, IBSP, BGLAP, GH1
39lipid459.0GH1, APC, GNAS, IBSP
40arginine458.9FGF23, GH1, BGLAP, GNAS
41estrogen458.9APC, GH1, IBSP, BGLAP
421,25 dihydroxy vitamin d3458.9FGF23, BGLAP, IBSP, GH1
43creatinine458.8BGLAP, IBSP, FGF23, GH1
44steroid458.7GNAS, IBSP, GH1, MSX2
45tyrosine458.5IBSP, GNAS, FGF23, APC, GH1
46vitamin d458.4FGF23, BGLAP, GH1, IBSP, APC
47heparin45 30 26 1311.4APC, IBSP, BGLAP, GH1, FGF23
48oligonucleotide458.3IBSP, MSX2, APC, GNAS, GH1
49serine458.0BGLAP, GH1, GNAS, IBSP, APC, FGF23
50calcium45 51 26 1310.6BGLAP, FGF23, MSX2, APC, GNAS, IBSP

GO Terms for genes affiliated with Fibrous Dysplasia

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Cellular components related to Fibrous Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.0FGF23, GH1, GNAS, IBSP, BGLAP

Biological processes related to Fibrous Dysplasia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of osteoclast differentiationGO:00456709.7BGLAP, APC
2bone developmentGO:00603489.6BGLAP, GNAS
3embryonic hindlimb morphogenesisGO:00351169.4GNAS, MSX2
4osteoblast developmentGO:00020769.3MSX2, BGLAP
5anterior/posterior pattern specificationGO:00099529.2MSX2, APC
6osteoblast differentiationGO:00016499.0BGLAP, MSX2
7positive regulation of osteoblast differentiationGO:00456699.0GNAS, MSX2
8cell adhesionGO:00071559.0IBSP, APC, BGLAP
9cellular response to growth factor stimulusGO:00713638.8BGLAP, IBSP, MSX2

Products for genes affiliated with Fibrous Dysplasia

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Sources for Fibrous Dysplasia

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4CDC
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27ICD10
28ICD10 via Orphanet
29ICD9CM
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31KEGG
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58SNOMED-CT via Orphanet
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63UMLS via Orphanet