MCID: OST004
MIFTS: 52

Osteitis Fibrosa malady

Bone diseases category

Summaries for Osteitis Fibrosa

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Disease Ontology:10 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 based summary: Osteitis Fibrosa, also known as osteitis fibrosa cystica generalisata, is related to hyperparathyroidism and primary hyperparathyroidism. 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.

Aliases & Classifications for Osteitis Fibrosa

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Sources:
10Disease Ontology, 12DISEASES, 45Novoseek, 62UMLS, 57SNOMED-CT, 35MeSH, 40NCIt
See all sources

Osteitis Fibrosa, Aliases & Descriptions:

Name: Osteitis Fibrosa 10 12 45
Osteitis Fibrosa Cystica Generalisata 10 62
Von Recklinghausen's Bone Disease 10 62
 
Hyperparathyroid Bone Disease 10
Osteitis Fibrosa Disseminata 62


Classifications:

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


External Ids:

Disease Ontology10 DOID:3341
MeSH35 D010002
NCIt40 C34875

Related Diseases for Osteitis Fibrosa

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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
1hyperparathyroidism31.3BGLAP, PTH, CASR, CALCA, ALPPL2, ALPL
2primary hyperparathyroidism31.2ALPP, CALCA, BGLAP, PTH, CASR
3adenoma31.1CALCA, CASR, PTH, GNAS
4parathyroid adenoma30.9ALPL, ALPP, CALCA, CASR, GNAS, PTH
5pseudohypoparathyroidism30.8BGLAP, PTH, GNAS, CALCA
6giant cell tumor30.7CALCA, BGLAP
7osteomalacia30.7BGLAP, GNAS, PTH, CASR, CALCA, ALPPL2
8rickets30.6PTH, CASR, ALPP, BGLAP
9renal osteodystrophy30.4KNTC1, ALPP, ALPL, BGLAP, PTH, CASR
10osteoporosis30.3PTH, IL11, CALCA, BGLAP
11calcinosis30.3ALPL, ALPP, CASR, PTH, ALPPL2
12myeloma30.2ALPPL2, ALPP, ALPL, IL11, BGLAP, B2M
13hypercalcemia30.2BGLAP, B2M, PTH, CASR, CALCA, ALPPL2
14uremia30.1B2M, CASR, PTH
15mccune-albright syndrome, somatic, mosaic10.4
16solitary bone cyst10.4
17thyroiditis10.4
18hyperparathyroidism-jaw tumor syndrome10.2
19multiple myeloma10.2
20ameloblastoma10.2
21neurofibromatosis10.2
22calciphylaxis10.2
23cranial nerve palsy10.2
24liposarcoma10.2
25paraplegia10.2
26periostitis10.2
27turner syndrome10.2
28dwarfism10.2
29precocious puberty10.2
30nephritis10.2
31monostotic fibrous dysplasia10.2
32bone marrow necrosis10.1
33chronic pyelonephritis10.1B2M
34pyelonephritis10.1B2M
35parathyroid carcinoma10.0PTH, CASR
36cherubism10.0CALCA
37fibrous dysplasia10.0BGLAP, GNAS
38spondyloarthropathy 110.0BGLAP, PTH
39brachydactyly10.0PTH, GNAS
40idiopathic juvenile osteoporosis10.0CALCA, BGLAP
41nephrolithiasis10.0PTH, CASR
42pseudohypoparathyroidism, type ib10.0PTH, BGLAP, GNAS
43multiple endocrine neoplasia iia10.0CALCA, PTH
44autosomal dominant disease10.0PTH, CALCA
45multinodular goiter10.0GNAS, CALCA
46multiple endocrine neoplasia 110.0GNAS, PTH, CASR
47metabolic acidosis10.0B2M, PTH, BGLAP
48hypothyroidism10.0GNAS, PTH, CASR
49germ cell cancer10.0ALPPL2, ALPP
50endodermal sinus tumor10.0ALPPL2, ALPP

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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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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MalaCards organs/tissues related to Osteitis Fibrosa:

33
Bone, Kidney, Thyroid, T cells, Skin

FMA organs/tissues related to Osteitis Fibrosa:

16
Bone

Animal Models for Osteitis Fibrosa or affiliated genes

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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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Articles related to Osteitis Fibrosa:

(show top 50)    (show all 144)
idTitleAuthorsYear
1
Facial disfigurement due to osteitis fibrosa cystica or brown tumor from secondary hyperparathyroidism in patients on dialysis: A systematic review and an illustrative case report. (25828738)
2015
2
Radiographical appearance of osteitis fibrosa cystica in primary hyperparathyroidism before and after parathyroidectomy. (23365170)
2013
3
Successful treatment of osteitis fibrosa cystica from primary hyperparathyroidism. (23259108)
2012
4
Visual vignette. Osteitis fibrosa cystica. (18753115)
2008
5
Fine needle aspiration diagnosis of osteitis fibrosa cystica (brown tumor of bone): a case report. (18702368)
2008
6
Cytokine accumulation in osteitis fibrosa of renal osteodystrophy. (11743611)
2002
7
Recovery pattern of patients with osteitis fibrosa cystica in primary hyperparathyroidism after successful parathyroidectomy. (12490858)
2002
8
Tc99m-sestamibi uptake in osteitis fibrosa cystica simulating metastatic bone disease. (11701666)
2001
9
22-Oxacalcitriol ameliorates high-turnover bone and marked osteitis fibrosa in rats with slowly progressive nephritis. (10594779)
1999
10
Spontaneous healing of osteitis fibrosa cystica in primary hyperparathyroidism. (9015472)
1996
11
Case management of the anemic patient: epoetin alfa--focus on osteitis fibrosa. (8285805)
1993
12
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
13
Advanced osteitis fibrosa cystica in the absence of phalangeal subperiosteal resorption. A case report and review of the literature. (3966183)
1985
14
Hyperparathyroidism with osteitis fibrosa cystica in the maxilla. (6715975)
1984
15
Healing of osteitis fibrosa cystica after partial parathyroidectomy despite persistent parathyroid hyperfunction: a case report. (7154936)
1982
16
The first recorded case of osteitis fibrosa cystica. (7471024)
1981
17
Biological activity of endogenous and exogenous calcitonin in patients with osteitis fibrosa and chronic renal failure. (740683)
1978
18
Dialysate calcium levels, dialysis hours and the healing of osteitis fibrosa. (1067489)
1976
19
Dietary induction of osteitis fibrosa cystica in the rat: roles of parathyroid hormone and calcitonin. (953813)
1976
20
Osteitis fibrosa (brown tumor) of the maxilla. (4437251)
1974
21
Normacalcaemic primary hyperparathyroidism with osteitis fibrosa. (5138753)
1971
22
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
23
Parathyroid tumour with osteitis fibrosa cystica. Case report with review. (13984952)
1962
24
Osteitis fibrosa induced by calciphylaxis in the absence of the parathyroids. (13910518)
1962
25
Parathyroid hyperplasia, multicystic kidneys, osteitis fibrosa generalisata and metastatic calcification in cirrhotic rats fed N-2-fluorenyldiacetamide. (13981802)
1962
26
Clinicopathologic conference; polycystic kidneys with generalized osteitis fibrosa cystica and parathyroid hyperplasia. (14909823)
1952
27
Osteoporosis, osteomalacia and osteitis fibrosa cystica, with special reference to the parathyroid and calcium metabolism. (14885642)
1951
28
A case of diffuse osteitis fibrosa with remodelling of the jaw by intra-oral approach. (14895776)
1951
29
Benign giant cell tumor or localized osteitis fibrosa cystica. (14846598)
1950
30
Localized osteitis fibrosa cystica of the frontal bone; report of a case. (15400099)
1950
31
Report of a case of long standing renal insufficiency with extensive metastatic calcifications (renal osteitis fibrosa cystica). (14771322)
1950
32
Hyperplasia of the parathyroids associated with osteitis fibrosa in rats treated with thiouracil and related compounds. (18128092)
1949
33
A case of osteitis fibrosa cystica. (18124462)
1949
34
Bony tumour of maxilla; osteitis fibrosa? (18903334)
1948
35
The clinical pathology of osteitis fibrosa. (18934700)
1948
36
Three Cysts in the Same Mandible, Not of Dental Origin. ? Solitary Cysts or Osteitis Fibrosa. (19993660)
1947
37
Three Cysts in the Same Mandible, Not of Dental Origin.A ? Solitary Cysts or Osteitis Fibrosa. (20918057)
1947
38
Chronic Hyperplasia or Focal Osteitis Fibrosa of the Maxilla: (Section of Laryngology). (19992334)
1941
39
Osteitis Fibrosa of Left Superior Maxilla. (19992021)
1939
40
Osteitis Fibrosa of Left Upper Jaw Involving Base of Skull. Osteitis Deformans of Spine. (19992022)
1939
41
VI.-General Osteitis Fibrosa: Parathyroidectomy. (19991713)
1938
42
Generalized Osteitis Fibrosa. Rapid Recalcification of Bone after Complete Parathyroidectomy. (19990406)
1935
43
Osteitis Fibrosa of Maxilla and Cranium: (Section of Odontology). (19990491)
1935
44
(?) Diffuse Osteitis Fibrosa with Spontaneous Fracture of the Left Femur. (19989736)
1934
45
Solitary Bone Cyst: The Localized from of Osteitis Fibrosa Cystica. (17867151)
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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Search GEO for disease gene expression data for Osteitis Fibrosa.

Pathways for genes affiliated with Osteitis Fibrosa

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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
29.7GNAS, CALCA
39.7CALCA, GNAS
49.6IL11, BGLAP
59.5PTH, GNAS, BGLAP
69.5BGLAP, PTH, CALCA
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, ALPL, ALPPL2
119.0ALPP, ALPL, ALPPL2

Compounds for genes affiliated with Osteitis Fibrosa

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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 30 61 1313.5CALCA, ALPP, BGLAP
11acth459.5IL11, GNAS
12pyridinoline459.4BGLAP, ALPP, CALCA
13zoledronic acid459.4CALCA, ALPP, BGLAP
14pmma459.4ALPP, CALCA, B2M
157,8-dihydroneopterin45 2610.4ALPPL2, ALPL, ALPP
16dihydroxyacetone45 2610.4ALPL, ALPPL2, ALPP
17dihydroneopterin triphosphate45 2610.4ALPP, ALPPL2, ALPL
18hydroxyproline45 26 1311.3PTH, ALPP, BGLAP, CALCA
194-Nitrophenol269.3ALPP, ALPPL2, ALPL
20Dihydroxyacetone phosphate269.3ALPPL2, ALPL, ALPP
21fluoride459.3CALCA, B2M, BGLAP, ALPP
22levamisole45 1310.3ALPP, ALPPL2, ALPL
23amifostine45 1310.2ALPL, IL11, ALPPL2
24titanium459.2ALPP, BGLAP, IL11
25methimazole45 3 1311.2ALPP, BGLAP, B2M
26calcium carbonate459.0BGLAP, B2M, ALPP, CALCA, PTH
27thyroxine45 2610.0B2M, ALPP, CALCA, PTH, BGLAP
28deoxypyridinoline458.8ALPP, PTH, IL11, CALCA, BGLAP
29alendronate45 51 1310.8BGLAP, PTH, ALPP, IL11, CALCA
30forskolin45 51 1310.7CALCA, CASR, IL11, PTH, GNAS
31pamidronate45 51 1310.7BGLAP, 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 26 1311.6ALPP, PTH, BGLAP, B2M, CALCA
361,25 dihydroxy vitamin d3458.4BGLAP, CALCA, CASR, ALPP, IL11, PTH
37thymidine45 269.4IL11, ALPP, B2M, PTH, GNAS
38creatinine458.4PTH, B2M, CALCA, ALPP, PDLIM3, CASR
39cyclosporin a45 30 6110.3CALCA, ALPP, CASR, IL11, BGLAP, B2M
40cyclic amp45 269.3PTH, 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 26 1311.1CASR, IL11, BGLAP, B2M, CALCA, ALPP
45magnesium45 26 1310.1ALPPL2, 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 26 1310.0PDLIM3, ALPP, CASR, B2M, BGLAP, GNAS

GO Terms for genes affiliated with Osteitis Fibrosa

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Cellular components related to Osteitis Fibrosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:00312258.7ALPL, ALPP, ALPPL2
2extracellular regionGO:00055768.0CALCA, B2M, BGLAP, GNAS, PTH, IL11
3extracellular spaceGO:00056158.0B2M, BGLAP, PTH, IL11, CALCA, ALPL
4plasma membraneGO:00058867.1ALPPL2, 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:007110710.0PTH, GNAS
2response to cadmium ionGO:00466869.9PTH, B2M
3bone developmentGO:00603489.8GNAS, BGLAP
4endochondral ossificationGO:00019589.7GNAS, ALPL
5response to vitamin DGO:00332809.7ALPL, PTH, BGLAP
6positive regulation of cAMP biosynthetic processGO:00308199.7CALCA, PTH, GNAS
7adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.6GNAS, PTH, CALCA
8activation of adenylate cyclase activityGO:00071909.6CALCA, GNAS
9skeletal system developmentGO:00015019.5ALPL, PTH, BGLAP
10response to drugGO:00424939.3B2M, BGLAP, GNAS, PTH
11cell-cell signalingGO:00072678.9CALCA, IL11, PTH

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

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:00040359.0ALPP, ALPL, ALPPL2

Products for genes affiliated with Osteitis Fibrosa

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Sources for Osteitis Fibrosa

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet