MCID: OST004
MIFTS: 54

Osteitis Fibrosa malady

Bone diseases category
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Summaries for Osteitis Fibrosa

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8Disease Ontology, 65Wikipedia, 33MalaCards
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Disease Ontology:8 A bone resorption disease that has material basis in hyperparathyroidism which results in hyperactivity in osteoclasts, deformity, and loss of mass located in bone.

MalaCards: Osteitis Fibrosa, also known as osteitis fibrosa cystica generalisata, is related to primary hyperparathyroidism and adenoma. An important gene associated with Osteitis Fibrosa is PDLIM3 (PDZ and LIM domain 3), and among its related pathways are Proton Pump Inhibitor Pathway, Pharmacodynamics and Adenylate cyclase activating neuropeptides. The compounds 22-oxacalcitriol and thiazide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone and kidney, and related mouse phenotypes are skeleton and endocrine/exocrine gland.

Wikipedia:65 Osteitis fibrosa cystica /??sti??a?t?s fa??bro?s? ?s?st?k?/, abbreviated OFC, also known as osteitis... more...

Aliases & Classifications for Osteitis Fibrosa

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62UMLS, 8Disease Ontology, 10DISEASES, 45Novoseek, 35MeSH, 58SNOMED-CT, 40NCIt
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Classifications:

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


Aliases & Descriptions:

osteitis fibrosa 8 10 45
osteitis fibrosa cystica generalisata 8
von recklinghausen's bone disease 8
hyperparathyroid bone disease 8
osteitis fibrosa disseminata 62


External Ids:

Disease Ontology8 DOID:3341
MeSH35 D010002
NCIt40 C34875

Related Diseases for Osteitis Fibrosa

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17GeneCards, 18GeneDecks
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Diseases related to Osteitis Fibrosa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1primary hyperparathyroidism31.2ALPP, CALCA, BGLAP, PTH, CASR
2adenoma31.1CALCA, CASR, PTH, GNAS
3hyperparathyroidism31.1BGLAP, PTH, CASR, CALCA, ALPPL2, ALPL
4parathyroid adenoma30.8ALPL, ALPP, CALCA, CASR, GNAS, PTH
5pseudohypoparathyroidism30.8BGLAP, PTH, GNAS, CALCA
6giant cell tumor30.8CALCA, BGLAP
7rickets30.6PTH, CASR, ALPP, BGLAP
8osteomalacia30.5BGLAP, GNAS, PTH, CASR, CALCA, ALPPL2
9osteosclerosis30.3ALPPL2, PTH, ALPL, ALPP
10calcinosis30.2ALPL, ALPP, CASR, PTH, ALPPL2
11renal osteodystrophy30.2KNTC1, ALPP, ALPL, BGLAP, PTH, CASR
12uremia30.1B2M, CASR, PTH
13myeloma30.1ALPPL2, ALPP, ALPL, IL11, BGLAP, B2M
14hypercalcemia30.0BGLAP, B2M, PTH, CASR, CALCA, ALPPL2
15osteoporosis30.0PTH, IL11, CASR, CALCA, ALPPL2, ALPL
16mccune albright syndrome10.4
17thyroiditis10.4
18solitary bone cyst10.4
19neurofibromatosis10.2
20calciphylaxis10.2
21cranial nerve palsy10.2
22liposarcoma10.2
23multiple myeloma10.2
24paraplegia10.2
25periostitis10.2
26turner syndrome10.2
27dwarfism10.2
28precocious puberty10.2
29nephritis10.2
30monostotic fibrous dysplasia10.2
31chronic pyelonephritis10.1B2M
32pyelonephritis10.1B2M
33parathyroid carcinoma10.1PTH, CASR
34cherubism10.1CALCA
35osteofibrous dysplasia10.1BGLAP, GNAS
36ankylosing spondylitis10.1BGLAP, PTH
37brachydactyly10.1PTH, GNAS
38idiopathic juvenile osteoporosis10.1CALCA, BGLAP
39nephrolithiasis10.1PTH, CASR
40pseudohypoparathyroidism type 1b10.1PTH, BGLAP, GNAS
41multiple endocrine neoplasia type 2a10.1CALCA, PTH
42autosomal dominant disease10.1PTH, CALCA
43multinodular goiter10.1GNAS, CALCA
44wermer syndrome10.1GNAS, PTH, CASR
45metabolic acidosis10.1B2M, PTH, BGLAP
46hypothyroidism10.1GNAS, PTH, CASR
47germ cell cancer10.1ALPPL2, ALPP
48endodermal sinus tumor10.0ALPPL2, ALPP
49cleidocranial dysplasia10.0ALPL, BGLAP
50graves' disease10.0CASR, GNAS, BGLAP

Graphical network of the top 20 diseases related to Osteitis Fibrosa:



Diseases related to osteitis fibrosa

Symptoms for Osteitis Fibrosa

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Drugs & Therapeutics for Osteitis Fibrosa

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Osteitis Fibrosa

Search NIH Clinical Center for Osteitis Fibrosa

Genetic Tests for Osteitis Fibrosa

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Anatomical Context for Osteitis Fibrosa

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33MalaCards, 14FMA
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MalaCards organs/tissues related to Osteitis Fibrosa:

33
Bone, Kidney, Thyroid, T cells, Skin

FMA organs/tissues related to Osteitis Fibrosa:

14
Bone

Animal Models for Osteitis Fibrosa or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Osteitis Fibrosa:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.7ALPL, CALCA, CASR, PTH, GNAS
2MP:00053798.4B2M, GNAS, PTH, CASR, ALPL
3MP:00053858.3B2M, GNAS, PTH, CALCA, ALPL, PDLIM3
4MP:00053767.9B2M, GNAS, PTH, CASR, CALCA, ALPL
5MP:00107687.6PDLIM3, B2M, GNAS, PTH, CASR, CALCA

Publications for Osteitis Fibrosa

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Sources:
52PubMed
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Articles related to Osteitis Fibrosa:

(show top 50)    (show all 139)
idTitleAuthorsYear
1
Radiographical appearance of osteitis fibrosa cystica in primary hyperparathyroidism before and after parathyroidectomy. (23365170)
2013
2
Successful treatment of osteitis fibrosa cystica from primary hyperparathyroidism. (23259108)
2012
3
Visual vignette. Osteitis fibrosa cystica. (18753115)
2008
4
Fine needle aspiration diagnosis of osteitis fibrosa cystica (brown tumor of bone): a case report. (18702368)
2008
5
Cytokine accumulation in osteitis fibrosa of renal osteodystrophy. (11743611)
2002
6
Recovery pattern of patients with osteitis fibrosa cystica in primary hyperparathyroidism after successful parathyroidectomy. (12490858)
2002
7
Tc99m-sestamibi uptake in osteitis fibrosa cystica simulating metastatic bone disease. (11701666)
2001
8
22-Oxacalcitriol ameliorates high-turnover bone and marked osteitis fibrosa in rats with slowly progressive nephritis. (10594779)
1999
9
Spontaneous healing of osteitis fibrosa cystica in primary hyperparathyroidism. (9015472)
1996
10
Case management of the anemic patient: epoetin alfa--focus on osteitis fibrosa. (8285805)
1993
11
Parathyroid hormone-like bioactivity in a patient with severe osteitis fibrosa cystica due to malignancy: renotropic actions of a tumour extract as assessed by cytochemical bioassay. (4039233)
1985
12
Advanced osteitis fibrosa cystica in the absence of phalangeal subperiosteal resorption. A case report and review of the literature. (3966183)
1985
13
Hyperparathyroidism with osteitis fibrosa cystica in the maxilla. (6715975)
1984
14
Healing of osteitis fibrosa cystica after partial parathyroidectomy despite persistent parathyroid hyperfunction: a case report. (7154936)
1982
15
The first recorded case of osteitis fibrosa cystica. (7471024)
1981
16
Biological activity of endogenous and exogenous calcitonin in patients with osteitis fibrosa and chronic renal failure. (740683)
1978
17
Dialysate calcium levels, dialysis hours and the healing of osteitis fibrosa. (1067489)
1976
18
Dietary induction of osteitis fibrosa cystica in the rat: roles of parathyroid hormone and calcitonin. (953813)
1976
19
Osteitis fibrosa (brown tumor) of the maxilla. (4437251)
1974
20
Normacalcaemic primary hyperparathyroidism with osteitis fibrosa. (5138753)
1971
21
Comparison between the results of radiocalcium studies and histological findings in a case of primary hyperparathyroidism (osteitis fibrosa cystica generalisata of von Recklinghausen) before and after removal of parathyroid adenoma. (5921154)
1966
22
Parathyroid tumour with osteitis fibrosa cystica. Case report with review. (13984952)
1962
23
Osteitis fibrosa induced by calciphylaxis in the absence of the parathyroids. (13910518)
1962
24
Parathyroid hyperplasia, multicystic kidneys, osteitis fibrosa generalisata and metastatic calcification in cirrhotic rats fed N-2-fluorenyldiacetamide. (13981802)
1962
25
Clinicopathologic conference; polycystic kidneys with generalized osteitis fibrosa cystica and parathyroid hyperplasia. (14909823)
1952
26
Osteoporosis, osteomalacia and osteitis fibrosa cystica, with special reference to the parathyroid and calcium metabolism. (14885642)
1951
27
A case of diffuse osteitis fibrosa with remodelling of the jaw by intra-oral approach. (14895776)
1951
28
Benign giant cell tumor or localized osteitis fibrosa cystica. (14846598)
1950
29
Report of a case of long standing renal insufficiency with extensive metastatic calcifications (renal osteitis fibrosa cystica). (14771322)
1950
30
Hyperplasia of the parathyroids associated with osteitis fibrosa in rats treated with thiouracil and related compounds. (18128092)
1949
31
A case of osteitis fibrosa cystica. (18124462)
1949
32
Bony tumour of maxilla; osteitis fibrosa? (18903334)
1948
33
The clinical pathology of osteitis fibrosa. (18934700)
1948
34
Three Cysts in the Same Mandible, Not of Dental Origin. ? Solitary Cysts or Osteitis Fibrosa. (19993660)
1947
35
Three Cysts in the Same Mandible, Not of Dental Origin.A ? Solitary Cysts or Osteitis Fibrosa. (20918057)
1947
36
Chronic Hyperplasia or Focal Osteitis Fibrosa of the Maxilla: (Section of Laryngology). (19992334)
1941
37
Albright's Syndrome-A Group of Cases Characterized by Osteitis Fibrosa Disseminata, Areas of Pigmentation and a Gonadal Dysfunction. (21407639)
1941
38
Osteitis Fibrosa of Left Superior Maxilla. (19992021)
1939
39
Osteitis Fibrosa of Left Upper Jaw Involving Base of Skull. Osteitis Deformans of Spine. (19992022)
1939
40
VI.-General Osteitis Fibrosa: Parathyroidectomy. (19991713)
1938
41
Generalized Osteitis Fibrosa. Rapid Recalcification of Bone after Complete Parathyroidectomy. (19990406)
1935
42
Osteitis Fibrosa of Maxilla and Cranium: (Section of Odontology). (19990491)
1935
43
(?) Diffuse Osteitis Fibrosa with Spontaneous Fracture of the Left Femur. (19989736)
1934
44
Solitary Bone Cyst: The Localized from of Osteitis Fibrosa Cystica. (17867151)
1934
45
THE EXPERIMENTAL PRODUCTION OF OSTEITIS FIBROSA OSTEOPLASTICA: Von Recklinghausen's Disease of the Bones. (20319372)
1934
46
Hyperparathyroidism: Generalized Osteitis Fibrosa with Multiple Osteoclastomata. (19987984)
1931
47
OSTEITIS FIBROSA WITH INITIAL SYMPTOMS RESEMBLING RHEUMATIC INFECTION: REPORT OF CASE. (20775568)
1930
48
A CASE OF OSTEITIS FIBROSA CYSTICA (OSTEOMALACIA?) WITH EVIDENCE OF HYPERACTIVITY OF THE PARA-THYROID BODIES. METABOLIC STUDY I. (16693892)
1930
49
OSTEITIS FIBROSA CYSTICA OCCURRING IN A FLAT BONE: Report of a Case. (18739020)
1923
50
VON RECKLINGHAUSEN'S DISEASE OR OSTEITIS FIBROSA: WITH REPORT OF A CASE PRESENTING MULTIPLE CYSTS AND GIANT-CELL TUMORS. (17864590)
1922

Variations for Osteitis Fibrosa

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Expression for genes affiliated with Osteitis Fibrosa

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteitis Fibrosa

Search GEO for disease gene expression data for Osteitis Fibrosa.

Pathways for genes affiliated with Osteitis Fibrosa

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Sources:
50PathCards, 51PharmGKB, 12EMD Millipore, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome, 53QIAGEN, 30KEGG
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Pathways related to Osteitis Fibrosa according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CASR, GNAS
29.7CALCA, GNAS
39.7CALCA, GNAS
49.6IL11, BGLAP
59.5PTH, GNAS, BGLAP
69.5BGLAP, CALCA, PTH
79.4CALCA, PTH, GNAS
8
Show member pathways
9.4CALCA, PTH, GNAS
9
Show member pathways
9.1GNAS, PTH, CASR, CALCA
10
Show member pathways
NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde38
NAD salvage38
NAD metabolism60
9.0ALPP, ALPPL2, ALPL
119.0ALPP, ALPL, ALPPL2

Compounds for genes affiliated with Osteitis Fibrosa

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45Novoseek, 51PharmGKB, 29IUPHAR, 61Tocris Bioscience, 11DrugBank, 24HMDB, 3BitterDB
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Compounds related to Osteitis Fibrosa according to GeneCards/GeneDecks:

(show top 50)    (show all 112)
idCompoundScoreTop Affiliating Genes
122-oxacalcitriol459.7BGLAP, CASR, ALPP
2thiazide459.7BGLAP, CALCA, CASR
3ipriflavone459.7BGLAP, ALPP, CALCA
424,25-dihydroxyvitamin d3459.6BGLAP, ALPP, CALCA
5etidronate459.6BGLAP, CALCA, ALPP
6tartrate459.6BGLAP, ALPP, CALCA
7vitamin k2459.6ALPP, BGLAP, CALCA
8sodium fluoride459.6ALPP, BGLAP, CALCA
9alizarin459.5ALPP, ALPL, BGLAP
10risedronate45 51 29 61 1113.5CALCA, ALPP, BGLAP
11acth459.5IL11, GNAS
12pyridinoline459.4BGLAP, ALPP, CALCA
13zoledronic acid459.4CALCA, ALPP, BGLAP
14pmma459.4ALPP, CALCA, B2M
157,8-dihydroneopterin45 2410.4ALPPL2, ALPL, ALPP
16dihydroxyacetone45 2410.4ALPL, ALPPL2, ALPP
17dihydroneopterin triphosphate45 2410.4ALPP, ALPPL2, ALPL
18hydroxyproline45 24 1111.3PTH, ALPP, BGLAP, CALCA
194-Nitrophenol249.3ALPP, ALPPL2, ALPL
20Dihydroxyacetone phosphate249.3ALPPL2, ALPL, ALPP
21fluoride459.3CALCA, B2M, BGLAP, ALPP
22levamisole45 1110.3ALPP, ALPPL2, ALPL
23amifostine45 1110.2ALPL, IL11, ALPPL2
24titanium459.2ALPP, BGLAP, IL11
25methimazole45 3 1111.2ALPP, BGLAP, B2M
26calcium carbonate459.0BGLAP, B2M, ALPP, CALCA, PTH
27thyroxine45 2410.0B2M, ALPP, CALCA, PTH, BGLAP
28deoxypyridinoline458.8ALPP, PTH, IL11, CALCA, BGLAP
29alendronate45 51 1110.8BGLAP, PTH, ALPP, IL11, CALCA
30forskolin45 51 1110.7CALCA, CASR, IL11, PTH, GNAS
31pamidronate45 51 1110.7BGLAP, CASR, B2M, CALCA, ALPP, PTH
3225-hydroxyvitamin d458.7CASR, B2M, BGLAP, PTH, CALCA, ALPP
33phosphorus458.7PTH, ALPP, CALCA, CASR, B2M, BGLAP
34hydroxyapatite458.7ALPP, IL11, CASR, BGLAP, ALPL
35testosterone45 61 24 1111.6ALPP, PTH, BGLAP, B2M, CALCA
361,25 dihydroxy vitamin d3458.4BGLAP, CALCA, CASR, ALPP, IL11, PTH
37thymidine45 249.4IL11, ALPP, B2M, PTH, GNAS
38creatinine458.4PTH, B2M, CALCA, ALPP, PDLIM3, CASR
39cyclosporin a45 29 6110.3CALCA, ALPP, CASR, IL11, BGLAP, B2M
40cyclic amp45 249.3PTH, ALPPL2, CALCA, CASR, IL11, GNAS
41aspartate458.3BGLAP, B2M, IL11, ALPL, ALPP
42vegf458.3PTH, IL11, ALPP, BGLAP, B2M, CALCA
43alanine458.2GNAS, BGLAP, IL11, B2M, CASR, ALPP
44calcitriol45 61 24 1111.1CASR, IL11, BGLAP, B2M, CALCA, ALPP
45magnesium45 24 1110.1ALPPL2, ALPL, ALPP, PTH, CASR
46estrogen458.0ALPP, CALCA, CASR, IL11, PTH, BGLAP
47cysteine457.9IL11, ALPP, ALPL, GNAS, BGLAP, B2M
48pge2457.7ALPP, PTH, B2M, BGLAP, GNAS, CASR
49vitamin d457.6B2M, IL11, PTH, CASR, ALPL, BGLAP
50calcium45 51 24 1110.0PDLIM3, ALPP, CASR, B2M, BGLAP, GNAS

GO Terms for genes affiliated with Osteitis Fibrosa

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16Gene Ontology
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Cellular components related to Osteitis Fibrosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:0312258.7ALPL, ALPP, ALPPL2
2extracellular regionGO:0055768.0CALCA, B2M, BGLAP, GNAS, PTH, IL11
3extracellular spaceGO:0056158.0B2M, BGLAP, PTH, IL11, CALCA, ALPL
4plasma membraneGO:0058867.1ALPPL2, CASR, GNAS, B2M, ALPP, KNTC1

Biological processes related to Osteitis Fibrosa according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1response to parathyroid hormoneGO:07110710.0PTH, GNAS
2response to cadmium ionGO:0466869.9PTH, B2M
3bone developmentGO:0603489.8GNAS, BGLAP
4endochondral ossificationGO:0019589.7GNAS, ALPL
5response to vitamin DGO:0332809.7ALPL, PTH, BGLAP
6positive regulation of cAMP biosynthetic processGO:0308199.7CALCA, PTH, GNAS
7adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.6GNAS, PTH, CALCA
8activation of adenylate cyclase activityGO:0071909.6CALCA, GNAS
9skeletal system developmentGO:0015019.5ALPL, PTH, BGLAP
10response to drugGO:0424939.3B2M, BGLAP, GNAS, PTH
11cell-cell signalingGO:0072678.9CALCA, IL11, PTH

Molecular functions related to Osteitis Fibrosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:0040359.0ALPP, ALPL, ALPPL2

Products for genes affiliated with Osteitis Fibrosa

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Osteitis Fibrosa

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet