MCID: FBR009
MIFTS: 47

Fibrous Dysplasia malady

Rare diseases, Bone diseases categories

Summaries for Fibrous Dysplasia

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NIH Rare Diseases:41 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 osteofibrous dysplasia, 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:9 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 9 41 11 43 60
Osteofibrous Dysplasia 41 43 60
Jaffe-Campanacci Syndrome 41 60
Ossifying Fibroma 41 60
 
Anomaly of Puberty or/and Menstrual Cycle of Genetic Origin 41
Intracortical Fibrous Dysplasia 41
Osteitis Fibrosa Disseminata 60
Fibrous Dysplasia of Bone 41


Classifications:

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


External Ids:

Disease Ontology9 DOID:0080031
ICD1025 M85.0

Related Diseases for Fibrous Dysplasia

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

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1mccune-albright syndrome, somatic, mosaic31.3FGF23, GNAS
2gigantism31.1GH1, GNAS
3hyperprolactinemia30.7GNAS, GH1
4hyperparathyroidism30.6FGF23, BGLAP
5osteogenesis imperfecta30.5IBSP, BGLAP
6acromegaly30.4BGLAP, GNAS, APC, GH1
7precocious puberty30.4GH1, APC, GNAS
8prolactinoma30.4GH1, GNAS
9goiter30.3BGLAP, GNAS
10primary hyperparathyroidism30.3BGLAP, IBSP, FGF23
11osteoporosis30.2IBSP, BGLAP
12osteomalacia30.2FGF23, GNAS, BGLAP
13hypophosphatemia30.2FGF23, BGLAP
14giant cell tumor30.2BGLAP, FGF23
15pituitary adenoma30.2GNAS, APC, GH1
16rickets30.2FGF23, BGLAP
17hypercalcemia30.1BGLAP, FGF23
18adenoma30.0GH1, APC, GNAS
19hyperthyroidism29.7BGLAP, GNAS, GH1, FGF23
20prostate cancer29.7BGLAP, IBSP, GNAS, APC
21breast cancer29.3IBSP, APC, MSX2, GH1
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
32acrodysostosis10.5GNAS
33panostotic fibrous dysplasia10.5
34gingivitis10.4
35sinusitis10.4
36periodontitis10.3
37pseudoarthrosis10.3
38sarcoma10.3
39mazabraud syndrome10.3
40pseudohypoparathyroidism, type ib10.3GNAS, BGLAP
41osteitis fibrosa10.3BGLAP, GNAS
42osseous heteroplasia, progressive10.3BGLAP, GNAS
43blindness10.2
44idiopathic juvenile osteoporosis10.2GH1, BGLAP
45gastrinoma10.2APC, GH1
46thyroid adenoma10.2GNAS, APC
47hyperandrogenism10.2GNAS, GH1
48adrenal gland hyperfunction10.2GH1, BGLAP
49turner syndrome10.2GH1, BGLAP
50growth hormone deficiency10.2GH1, BGLAP

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:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2GH1, APC, GNAS
2MP:00053778.5MSX2, APC, GNAS
3MP:00053798.4GH1, MSX2, APC, GNAS
4MP:00107718.1GNAS, APC, MSX2, FGF23
5MP:00053717.8FGF23, MSX2, APC, GNAS, IBSP
6MP:00053907.7IBSP, GNAS, APC, MSX2, FGF23
7MP:00053787.4IBSP, GNAS, APC, MSX2, GH1, 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 Suite gene sharing:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1pyridinoline4310.5GH1
2pphp4310.1GNAS, APC
3anastrozole43 49 1211.9BGLAP, GH1
4salbutamol43 49 28 24 1213.9GH1, APC
5alendronate43 49 1211.8GH1, BGLAP
6ibandronate43 1210.8IBSP, BGLAP
7alizarin439.8BGLAP, IBSP
8pertussis439.8GH1, APC
9chitosan439.8IBSP, BGLAP
10sevelamer439.8FGF23, BGLAP
11titanium439.8IBSP, BGLAP
12fluoride439.7BGLAP, GH1
13zoledronic acid439.7IBSP, BGLAP
14raloxifene43 49 28 1212.7GH1, BGLAP
15isoproterenol43 1210.6GNAS, APC, GH1
16acth439.6GNAS, APC, GH1
17clonidine43 49 28 1212.6GH1, BGLAP
18guanine43 24 1211.6GNAS, APC, GH1
1925-hydroxyvitamin d439.6FGF23, BGLAP
20phosphorus439.6FGF23, BGLAP
21norepinephrine43 24 1211.5GNAS, APC, GH1
22gnrh439.5GH1, GNAS, BGLAP
23octreotide43 59 28 1212.5FGF23, GH1, GNAS
24deoxypyridinoline439.5GH1, IBSP, BGLAP
25procollagen439.4GH1, IBSP, BGLAP
26hydroxyproline43 24 1211.4BGLAP, IBSP
27dopamine43 28 24 1212.3GNAS, APC, GH1
28calcitriol43 59 24 1212.3FGF23, GH1, BGLAP
29estradiol43 24 1211.3BGLAP, IBSP, GH1
30hydroxyapatite439.2BGLAP, IBSP, FGF23
31phosphoserine43 2410.2APC, IBSP
32leucine439.2GH1, GNAS, IBSP
33forskolin43 49 1211.1IBSP, GNAS, APC, GH1
34thymidine43 2410.1GH1, GNAS, IBSP
35glutamine439.0GNAS, APC, GH1, FGF23
36pge2439.0APC, GNAS, IBSP, BGLAP
37paraffin439.0BGLAP, IBSP, APC, GH1
38cysteine439.0GH1, GNAS, IBSP, BGLAP
39lipid439.0IBSP, GNAS, APC, GH1
40arginine438.9FGF23, GH1, GNAS, BGLAP
41estrogen438.9BGLAP, IBSP, APC, GH1
421,25 dihydroxy vitamin d3438.9BGLAP, IBSP, GH1, FGF23
43creatinine438.8BGLAP, IBSP, GH1, FGF23
44steroid438.7GH1, MSX2, GNAS, IBSP
45tyrosine438.5FGF23, GH1, APC, GNAS, IBSP
46vitamin d438.4FGF23, GH1, APC, IBSP, BGLAP
47heparin43 28 24 1211.4BGLAP, IBSP, APC, GH1, FGF23
48oligonucleotide438.3GH1, MSX2, APC, GNAS, IBSP
49serine438.0BGLAP, IBSP, GNAS, APC, GH1, FGF23
50calcium43 49 24 1210.6BGLAP, IBSP, GNAS, APC, MSX2, FGF23

GO Terms for genes affiliated with Fibrous Dysplasia

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Cellular components related to Fibrous Dysplasia according to GeneCards Suite gene sharing:

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

Biological processes related to Fibrous Dysplasia according to GeneCards Suite gene sharing:

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

Products for genes affiliated with Fibrous Dysplasia

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Sources for Fibrous Dysplasia

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3CDC
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22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
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35MGI
38NCIt
39NDF-RT
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46OMIM via Orphanet
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51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet