MCID: FBR009
MIFTS: 54

Fibrous Dysplasia malady

Bone diseases category

Summaries for Fibrous Dysplasia

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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: Fibrous Dysplasia, also known as fibrous dysplasia of bone, is related to mccune albright syndrome and osteosarcoma. An important gene associated with Fibrous Dysplasia is GNAS (GNAS complex locus), and among its related pathways are Osteoblast Signaling and Endochondral Ossification. The compounds forskolin and ghrp have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Disease Ontology:8 A bone remodeling disease that results in the destruction of normal bone and replacing it with fibrous bone tissue.

Wikipedia:63 Fibrous dysplasia is an abnormal bone growth where normal bone is replaced with fibrous bone tissue.... more...

Aliases & Classifications for Fibrous Dysplasia

About this section
Sources:
42NIH Rare Diseases, 8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

fibrous dysplasia 8 42 10 44 60
fibrous dysplasia of bone 42


External Ids:

Disease Ontology8 DOID:0080031

Related Diseases for Fibrous Dysplasia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 210)
idRelated DiseaseScoreTop Affiliating Genes
1mccune albright syndrome31.3GNAS, APC, GH1, PRL
2osteosarcoma30.7BGLAP, IBSP, RUNX2, FOS, GHR, GHRH
3acromegaly30.5GH1, PRL
4sarcoma30.4ADCY10
5meningioma30.4SPARC
6hyperparathyroidism30.4BGLAP, FGF23, ALPPL2, ADCY10
7paget's disease of bone30.3ALPPL2
8primary hyperparathyroidism30.3BGLAP, IBSP, FGF23
9hepatitis30.1GHR
10hyperprolactinemia30.1GNAS, GHRH, GH1, PRL
11osteogenesis imperfecta30.1ALPPL2, SPARC, IBSP, BGLAP
12osteomalacia30.1ALPPL2, FGF23, GNAS, BGLAP
13goiter29.9BGLAP, GNAS
14osteofibrous dysplasia29.9BGLAP, GNAS, SPARC
15empty sella syndrome29.9GH1, PRL
16hypophosphatemia29.9ALPPL2, FGF23, BGLAP
17rickets29.9ALPPL2, FGF23, BGLAP
18prolactinoma29.9ADCY10, PRL, GH1, GNAS
19arthritis29.9BGLAP, FOS, ALPPL2
20bone carcinoma29.9BGLAP, IBSP, RUNX2, SPARC
21hypercalcemia29.9BGLAP, FGF23, ALPPL2, ADCY10
22breast cancer29.9APC, AREG, GHR, PRL
23prostate cancer29.9BGLAP, IBSP, FOS, GHR, GHRH
24rheumatoid arthritis29.9BGLAP, IBSP, RUNX2, FOS, AREG, SPARC
25leukemia29.9RUNX2, FOS, AREG, GHR, ALPPL2, ADCY10
26osteoporosis29.9BGLAP, IBSP, RUNX2, GHR, GH1, FGF23
27hyperthyroidism29.9BGLAP, GNAS, GHR, GHRH, GH1, PRL
28ossifying fibroma10.6
29cherubism10.5
30cervicitis10.5
31monostotic fibrous dysplasia10.4
32panostotic fibrous dysplasia10.3
33fibrous meningioma10.3
34bone osteosarcoma10.2
35giant cell reparative granuloma10.1
36cleft lip10.1
37cleft palate10.1
38thoracic outlet syndrome10.1
39cholesteatoma10.1
40chondrosarcoma10.1
41hodgkin's lymphoma10.1
42osteomyelitis10.1
43mccune–albright syndrome10.1
44mazabraud syndrome10.1
45multiple endocrine neoplasia10.0GNAS
46arthropathy10.0FGF23
47pancreatitis10.0ALPPL2
48amenorrhea10.0PRL
49carney complex10.0GNAS
50parkinson's disease10.0FOS

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



Diseases related to fibrous dysplasia

Clinical Features for Fibrous Dysplasia

About this section

Drugs & Therapeutics for Fibrous Dysplasia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Fibrous Dysplasia

Drug clinical trials:

Search ClinicalTrials for Fibrous Dysplasia

Search NIH Clinical Center for Fibrous Dysplasia

Search CenterWatch for Fibrous Dysplasia

Genetic Tests for Fibrous Dysplasia

About this section

Anatomical Context for Fibrous Dysplasia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Fibrous Dysplasia:

32
Bone, Bone marrow, Lung, Breast, Prostate, Testes, Myeloid

Animal Models for Fibrous Dysplasia or affiliated genes

About this section
Sources:
36MGI
See all sources

Publications for Fibrous Dysplasia

About this section
Sources:
50PubMed
See all sources

Articles related to Fibrous Dysplasia:

(show top 50)    (show all 650)
idTitleAuthorsYear
1
Polyostotic fibrous dysplasia. (24224314)
2013
2
Dental perspectives in fibrous dysplasia and McCune-Albright syndrome. (23953425)
2013
3
A retrospective study on craniofacial fibrous dysplasia: preoperative serum alkaline phosphatase as a prognostic marker? (23391394)
2013
4
Radiographic Classification of Coronal Plane Femoral Deformities in Polyostotic Fibrous Dysplasia. (24249535)
2013
5
Olfactory dysfunction as first presenting symptom of cranial fibrous dysplasia. (23893286)
2013
6
Zygomaticomaxillary complex fracture in a zygomatic bone affected by monostotic fibrous dysplasia: a very rare association. (23714967)
2013
7
Clinical guidelines for the management of craniofacial fibrous dysplasia. (22640797)
2012
8
Surgical treatment of monostotic fibrous dysplasia of the temporal bone: a retrospective analysis. (22795233)
2012
9
Recurrent femur neck fracture and response to bisphosphonates in polyostotic fibrous dysplasia. (21761121)
2012
10
The CREB-Smad6-Runx2 axis contributes to the impaired osteogenesis potential of bone marrow stromal cells in fibrous dysplasia of bone. (22450860)
2012
11
The role of dual-phase Tc-99m MIBI in the evaluation of potentially operable lesions detected by bone scanning in fibrous dysplasia: a long-term prospective follow-up study. (22198723)
2012
12
Pregnancy-induced cystic degeneration of fibrous dysplasia. (23041405)
2012
13
Chest wall reconstruction in a patient with sternal fibrous dysplasia. (21243578)
2011
14
Wnt/I^-catenin signaling is differentially regulated by GI+ proteins and contributes to fibrous dysplasia. (22106277)
2011
15
Treatment of fibrous dysplasia of the proximal femur by means of pedicled iliac crest bone graft: a case report. (21207500)
2011
16
Polyostotic fibrous dysplasia with gigantism and huge pelvic tumor: a rare case of McCune-Albright syndrome. (20878436)
2011
17
Expression and regulation of amphiregulin in GsI+-mutated human bone marrow stromal cells of fibrous dysplasia of mandible. (21439861)
2011
18
Fibrous dysplasia of the clivus. (21286483)
2010
19
A case of acute compressive optic neuropathy secondary to aneurysmal bone cyst formation in fibrous dysplasia. (20649393)
2010
20
Isolated fibrous dysplasia of the zygomatic bone. (20818245)
2010
21
A rare spontaneous osteosarcoma of the calvarium in a patient with long-standing fibrous dysplasia: CT and MR findings. (18238909)
2008
22
Pain and osteolysis of the thoracic spine--a case of a rare monostotic fibrous dysplasia manifestation. (19158971)
2008
23
Use of high-dose oral bisphosphonate therapy for symptomatic fibrous dysplasia of the skull. (18976079)
2008
24
Concurrent Ewing sarcoma family of tumors and fibrous dysplasia: possible diagnostic pitfall. (17230061)
2007
25
Unexpected finding of elevated glucose uptake in fibrous dysplasia mimicking malignancy: contradicting metabolism and morphology in combined PET/CT. (17066288)
2007
26
Surgical management of fibrous dysplasia in McCune-Albright syndrome. (17982394)
2007
27
Monostotic fibrous dysplasia of the proximal femur and liposclerosing myxofibrous tumor: which one is which? (17002568)
2006
28
Craniofacial surgery in fibrous dysplasia. (16789622)
2006
29
The correlation of specific orthopaedic features of polyostotic fibrous dysplasia with functional outcome scores in children. (16595472)
2006
30
Fibrous dysplasia in the retropharyngeal area. (16909817)
2006
31
Fibrous dysplasia as a stem cell disease. (17229001)
2006
32
Fibrous dysplasia of the cranial bones: a case report and review of the literature. (16464312)
2005
33
Endoscopic surgery for fibrous dysplasia of the sinonasal tract in pediatric patients. (15627445)
2005
34
A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia. (16264125)
2005
35
Chondroblastoma of the acromion mimicking fibrous dysplasia. (15669467)
2004
36
Clinical and radiographic features of chronic monostotic fibrous dysplasia of the mandible. (15363216)
2004
37
Oral bisphosphonates in polyostotic fibrous dysplasia. (14530553)
2003
38
Monostotic lumbar manifestation of fibrous dysplasia--a rare entity. (14628210)
2003
39
Fibrous dysplasia masquerading as extramedullary relapse after bone marrow transplantation for chronic myeloid leukemia. (14692542)
2003
40
Magnetic resonance imaging and [11C]methyl-L-methionine positron emission tomography of fibrous dysplasia--two case reports. (12206488)
2002
41
Cellular and molecular biology of fibrous dysplasia]. (11910936)
2001
42
Gsalpha gene mutations in monostotic fibrous dysplasia of bone and fibrous dysplasia-like low-grade central osteosarcoma. (11561757)
2001
43
Maxillary malignant mesenchymoma and massive fibrous dysplasia. (9006514)
1997
44
Acromegaly and hyperprolactinemia in a patient with polyostotic fibrous dysplasia: dynamic endocrine studies and treatment with the somatostatin analogue octreotide. (7911814)
1994
45
A case of fibrous dysplasia (McCune Albright syndrome) associated with acromegaly]. (2070893)
1991
46
Monostotic fibrous dysplasia of the ethmoid. Surgical treatment using a combined endocranial and transfacial approach. (3958589)
1986
47
Cherubism: a variation of fibrous dysplasia of the jaws. (7112674)
1982
48
Monostotic fibrous dysplasia. Report of a case. (1053797)
1975
49
Non-epithelial tumors of the nasal cavity, paranasal sinuses, and nasopharynx. A clinicopathologic study. II. Osseous and fibro-osseous lesions, including osteoma, fibrous dysplasia, ossifying fibroma, osteoblastoma, giant cell tumor, and osteosarcoma. (4207295)
1974
50
Monostotic fibrous dysplasia of the maxilla. (5796911)
1969

Genetic Variations for Fibrous Dysplasia

About this section

Expression for genes affiliated with Fibrous Dysplasia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Fibrous Dysplasia

Search GEO for disease gene expression data for Fibrous Dysplasia.

Pathways for genes affiliated with Fibrous Dysplasia

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 51QIAGEN, 29KEGG
See all sources

Pathways related to Fibrous Dysplasia according to GeneCards/GeneDecks:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2FGF23, IBSP
210.1GH1, GHR, RUNX2
3
Hide members
10.1GHR, GH1, PRL
410.1RUNX2, IBSP, BGLAP
510.0GHR, RUNX2, BGLAP
6
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
10.0FOS, RUNX2, BGLAP
710.0BGLAP, FOS, PRL
8
Hide members
10.0GHR, GH1, PRL, FGF23
9
Hide members
9.9AREG, GHRH, GH1, FGF23
10
Hide members
9.9GH1, GHRH, FOS, GNA11
119.9BGLAP, RUNX2, FOS, FGF23
129.9IBSP, GHR, GH1, PRL, FGF23
13
Hide members
9.8PRL, GH1, GHRH, GHR, GNAS
14
Hide members
9.7FGF23, GH1, GHRH, AREG, GNA11
15
Hide members
9.7GNA11, AREG, GHRH, GH1, FGF23
16
Hide members
9.7GNA11, AREG, GHRH, GH1, FGF23
17
Hide members
9.7FOS, AREG, GHRH, GH1, FGF23
18
Hide members
9.7FOS, AREG, GHR, GH1, PRL
19
Hide members
9.6APC, FOS, AREG, GHRH, GH1, FGF23
20
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.6FOS, BGLAP, IBSP, RUNX2, GNA11, GNAS
21
Hide members
9.6GNA11, FOS, AREG, GHRH, GH1, FGF23
22
Hide members
9.6GNA11, FOS, AREG, GHRH, GH1, FGF23
23
Hide members
9.6GNA11, FOS, AREG, GHRH, GH1, FGF23
24
Hide members
9.6GNA11, FOS, AREG, GHRH, GH1, FGF23
25
Hide members
9.4GNA11, APC, FOS, AREG, GHRH, GH1
26
Hide members
9.3IBSP, GNA11, GNAS, APC, GHR, GHRH
27
Hide members
9.3GNA11, FOS, AREG, GHR, GHRH, GH1

Compounds for genes affiliated with Fibrous Dysplasia

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience
See all sources

Compounds related to Fibrous Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 100)
idCompoundScoreTop Affiliating Genes
1forskolin44 49 1112.4GHRH, AREG, IBSP
2ghrp4410.4GHR, PRL, GH1, GHRH
3hexarelin44 2811.3PRL, GH1, GHRH, GHR
4bromocriptine28 44 1112.3PRL, ADCY10, GHR, GHRH
5lanreotide44 2811.3GH1, PRL, GHRH, GHR
6alizarin4410.3BGLAP, IBSP, RUNX2, SPARC
7estradiol44 11 2412.3PRL, IBSP, GHRH, GHR
8salbutamol44 49 28 11 2414.2ADCY10, APC, GH1, GHRH
9cycloheximide4410.2GHR, GHRH, IBSP, RUNX2, ADCY10
10pyridinoline4410.2GH1, SPARC, BGLAP, IBSP
11titanium4410.2RUNX2, IBSP, BGLAP, SPARC
12dopamine44 28 11 2413.2FOS, GHR, GHRH, APC, GNAS
13naloxone44 49 28 1113.2ADCY10, PRL, GH1, GHRH, FOS
141,25 dihydroxy vitamin d34410.1FGF23, GH1, RUNX2, IBSP, BGLAP
15pertussis4410.1GH1, FOS, APC, ADCY10
16leuprolide acetate4410.1PRL, GH1, GHR
17pyridostigmine44 1111.1GHRH, GH1, PRL
18acth4410.1GHRH, GHR, APC, GNAS, PRL, GH1
19clonidine44 28 1112.1GH1, BGLAP, GHR, GHRH, ADCY10, PRL
20glucose4410.1UMOD, GHRH, RUNX2, APC, SPARC
21hydroxyapatite4410.0FGF23, IBSP, BGLAP, SPARC, RUNX2, UMOD
22octreotide44 59 28 1113.0PRL, GNAS, GHR, GHRH, ADCY10, FGF23
23opiate4410.0ADCY10, GHRH, GH1, PRL
24pegvisomant44 1111.0GHRH, GH1, GHR
25isoproterenol44 1111.0APC, AREG, GH1, ADCY10, GNAS
26thyroxine44 2411.0GH1, FOS, GHR, BGLAP, PRL, GHRH
27ribonucleic acid449.9RUNX2, GHR, GHRH, FOS, GNAS, GH1
28dihydrotestosterone44 28 11 2412.9AREG, BGLAP, GHR, GH1, PRL
29norepinephrine44 11 2411.9ADCY10, PRL, GHRH, GNAS, APC, AREG
30gnrh449.9PRL, GHR, GHRH, FOS, GNAS, GH1
31dexamethasone44 49 28 1112.9GHRH, BGLAP, IBSP, FOS, AREG, GH1
32tamoxifen44 49 28 1112.8GH1, GHRH, GHR, FOS, PRL, BGLAP
33calcitriol44 59 11 2412.8SPARC, GH1, GHR, FOS, FGF23, AREG
34paraffin449.8BGLAP, IBSP, APC, GHR, GH1, SPARC
35serine449.8RUNX2, GNAS, APC, BGLAP, FGF23, FOS
36sb 20358044 5910.7SPARC, BGLAP, RUNX2, FOS, AREG, GH1
37steroid449.7IBSP, RUNX2, GNAS, GH1, PRL, MSX2
38progesterone44 59 28 11 2413.7GHRH, SPARC, PRL, GH1, GHR, AREG
39thymidine44 2410.7GHR, GNAS, IBSP, SPARC, AREG, GH1
40heparin44 28 11 2412.7SPARC, AREG, APC, BGLAP, IBSP, UMOD
41vitamin d449.7SPARC, IBSP, BGLAP, FGF23, RUNX2, APC
42arginine449.7GH1, FGF23, GHRH, GHR, GNAS, BGLAP
43testosterone44 59 11 2412.6GHR, AREG, APC, BGLAP, GHRH, GH1
44oligonucleotide449.5GHR, IBSP, RUNX2, GNAS, APC, FOS
45vegf449.5RUNX2, IBSP, FOS, AREG, GH1, POSTN
46fatty acid449.5GHR, APC, RUNX2, GHRH, SPARC
47cyclic amp44 2410.5AREG, ADCY10, ALPPL2, GHRH, GHR, GNAS
48retinoic acid44 2410.4GHR, FOS, APC, RUNX2, GH1, SPARC
49tyrosine449.3FOS, NPHP1, APC, GHR, IBSP, RUNX2
50calcium44 49 11 2411.9GNAS, RUNX2, IBSP, BGLAP, FOS, UMOD

GO Terms for genes affiliated with Fibrous Dysplasia

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.5UMOD, GHR, GHRH, GH1, FGF23, SPARC
2extracellular regionGO:0055769.0SPARC, BGLAP, IBSP, GNAS, GHR, GHRH

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1growth hormone receptor signaling pathwayGO:06039610.4GH1, GHR
2regulation of osteoclast differentiationGO:04567010.4APC, BGLAP
3positive regulation of osteoblast differentiationGO:04566910.4RUNX2, GNAS, MSX2
4JAK-STAT cascade involved in growth hormone signaling pathwayGO:06039710.4PRL, GH1, GHR
5positive regulation of multicellular organism growthGO:04001810.4GHR, GHRH, GH1
6response to foodGO:03209410.4GHRH, GHR
7osteoblast developmentGO:00207610.4BGLAP, RUNX2, MSX2
8response to estradiol stimulusGO:03235510.4PRL, GH1, GHR
9osteoblast differentiationGO:00164910.3BGLAP, RUNX2, MSX2
10chondrocyte developmentGO:00206310.3MSX2, RUNX2
11response to gravityGO:00962910.3SPARC, FOS, BGLAP
12ossificationGO:00150310.3IBSP, RUNX2, SPARC
13cAMP biosynthetic processGO:00617110.2ADCY10, GNAS
14response to glucocorticoid stimulusGO:05138410.2BGLAP, GHR, SPARC
15positive regulation of JAK-STAT cascadeGO:04642710.2PRL, GH1
16cellular response to growth factor stimulusGO:07136310.2SPARC, MSX2, IBSP, BGLAP
17female pregnancyGO:00756510.2GNAS, FOS, PRL
18response to ethanolGO:04547110.1BGLAP, PRL, SPARC
19positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.9GH1, GHRH
20response to drugGO:0424939.8BGLAP, GNAS, FOS, PRL

Molecular functions related to Fibrous Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase activityGO:00401610.2ADCY10, GNAS
2prolactin receptor bindingGO:0051489.9PRL, GH1

Products for genes affiliated with Fibrous Dysplasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fibrous Dysplasia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet