MCID: OST004
MIFTS: 55

Osteitis Fibrosa malady

Bone diseases category
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Summaries for Osteitis Fibrosa

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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 based summary: Osteitis Fibrosa, also known as osteitis fibrosa cystica generalisata, is related to adenoma and giant cell tumor. 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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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt
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Osteitis Fibrosa, Aliases & Descriptions:

Name: Osteitis Fibrosa 8 10 44
Osteitis Fibrosa Cystica Generalisata 8 62
Von Recklinghausen's Bone Disease 8 62
 
Hyperparathyroid Bone Disease 8
Osteitis Fibrosa Disseminata 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:3341
MeSH34 D010002
NCIt39 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 113)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma31.1CALCA, CASR, PTH, GNAS
2giant cell tumor31.0CALCA, BGLAP
3primary hyperparathyroidism31.0ALPP, CALCA, BGLAP, PTH, CASR
4pseudohypoparathyroidism30.9BGLAP, PTH, GNAS, CALCA
5rickets30.7PTH, CASR, ALPP, BGLAP
6uremia30.4B2M, CASR, PTH
7osteosclerosis30.2ALPPL2, PTH, ALPL, ALPP
8parathyroid adenoma30.1ALPL, ALPP, CALCA, CASR, GNAS, PTH
9hyperparathyroidism30.0BGLAP, PTH, CASR, CALCA, ALPPL2, ALPL
10calcinosis30.0ALPL, ALPP, CASR, PTH, ALPPL2
11myeloma29.6ALPPL2, ALPP, ALPL, IL11, BGLAP, B2M
12osteomalacia29.3BGLAP, GNAS, PTH, CASR, CALCA, ALPPL2
13hypercalcemia29.2BGLAP, B2M, PTH, CASR, CALCA, ALPPL2
14osteoporosis29.1PTH, IL11, CASR, CALCA, ALPPL2, ALPL
15renal osteodystrophy29.1KNTC1, ALPP, ALPL, BGLAP, PTH, CASR
16chronic pyelonephritis10.5B2M
17mccune albright syndrome10.5
18pyelonephritis10.5B2M
19solitary bone cyst10.4
20thyroiditis10.4
21parathyroid carcinoma10.4PTH, CASR
22cherubism10.4CALCA
23osteofibrous dysplasia10.3BGLAP, GNAS
24ankylosing spondylitis10.3BGLAP, PTH
25brachydactyly10.3PTH, GNAS
26idiopathic juvenile osteoporosis10.3CALCA, BGLAP
27nephrolithiasis10.3PTH, CASR
28pseudohypoparathyroidism type 1b10.3PTH, BGLAP, GNAS
29multiple endocrine neoplasia type 2a10.3CALCA, PTH
30autosomal dominant disease10.3PTH, CALCA
31multinodular goiter10.3GNAS, CALCA
32wermer syndrome10.3GNAS, PTH, CASR
33metabolic acidosis10.2B2M, PTH, BGLAP
34hypothyroidism10.2GNAS, PTH, CASR
35multiple myeloma10.2
36ameloblastoma10.2
37neurofibromatosis10.2
38calciphylaxis10.2
39cranial nerve palsy10.2
40liposarcoma10.2
41paraplegia10.2
42periostitis10.2
43turner syndrome10.2
44dwarfism10.2
45precocious puberty10.2
46nephritis10.2
47monostotic fibrous dysplasia10.2
48germ cell cancer10.2ALPPL2, ALPP
49endodermal sinus tumor10.2ALPPL2, ALPP
50cleidocranial dysplasia10.2ALPL, 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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Drug clinical trials:

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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:

32
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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MGI Mouse Phenotypes related to Osteitis Fibrosa:

36
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 141)
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
Localized osteitis fibrosa cystica of the frontal bone; report of a case. (15400099)
1950
30
Report of a case of long standing renal insufficiency with extensive metastatic calcifications (renal osteitis fibrosa cystica). (14771322)
1950
31
Hyperplasia of the parathyroids associated with osteitis fibrosa in rats treated with thiouracil and related compounds. (18128092)
1949
32
A case of osteitis fibrosa cystica. (18124462)
1949
33
Bony tumour of maxilla; osteitis fibrosa? (18903334)
1948
34
The clinical pathology of osteitis fibrosa. (18934700)
1948
35
Three Cysts in the Same Mandible, Not of Dental Origin. ? Solitary Cysts or Osteitis Fibrosa. (19993660)
1947
36
Three Cysts in the Same Mandible, Not of Dental Origin.A ? Solitary Cysts or Osteitis Fibrosa. (20918057)
1947
37
Chronic Hyperplasia or Focal Osteitis Fibrosa of the Maxilla: (Section of Laryngology). (19992334)
1941
38
Albright's Syndrome-A Group of Cases Characterized by Osteitis Fibrosa Disseminata, Areas of Pigmentation and a Gonadal Dysfunction. (21407639)
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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Expression patterns in normal tissues for genes affiliated with Osteitis Fibrosa

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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 semialdehyde37
NAD salvage37
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-oxacalcitriol449.7BGLAP, CASR, ALPP
2thiazide449.7BGLAP, CALCA, CASR
3ipriflavone449.7BGLAP, ALPP, CALCA
424,25-dihydroxyvitamin d3449.6BGLAP, ALPP, CALCA
5etidronate449.6BGLAP, CALCA, ALPP
6tartrate449.6BGLAP, ALPP, CALCA
7vitamin k2449.6ALPP, BGLAP, CALCA
8sodium fluoride449.6ALPP, BGLAP, CALCA
9alizarin449.5ALPP, ALPL, BGLAP
10risedronate44 50 28 61 1113.5CALCA, ALPP, BGLAP
11acth449.5IL11, GNAS
12pyridinoline449.4BGLAP, ALPP, CALCA
13zoledronic acid449.4CALCA, ALPP, BGLAP
14pmma449.4ALPP, CALCA, B2M
157,8-dihydroneopterin44 2410.4ALPPL2, ALPL, ALPP
16dihydroxyacetone44 2410.4ALPL, ALPPL2, ALPP
17dihydroneopterin triphosphate44 2410.4ALPP, ALPPL2, ALPL
18hydroxyproline44 24 1111.3PTH, ALPP, BGLAP, CALCA
194-Nitrophenol249.3ALPP, ALPPL2, ALPL
20Dihydroxyacetone phosphate249.3ALPPL2, ALPL, ALPP
21fluoride449.3CALCA, B2M, BGLAP, ALPP
22levamisole44 1110.3ALPP, ALPPL2, ALPL
23amifostine44 1110.2ALPL, IL11, ALPPL2
24titanium449.2ALPP, BGLAP, IL11
25methimazole44 2 1111.2ALPP, BGLAP, B2M
26calcium carbonate449.0BGLAP, B2M, ALPP, CALCA, PTH
27thyroxine44 2410.0B2M, ALPP, CALCA, PTH, BGLAP
28deoxypyridinoline448.8ALPP, PTH, IL11, CALCA, BGLAP
29alendronate44 50 1110.8BGLAP, PTH, ALPP, IL11, CALCA
30forskolin44 50 1110.7CALCA, CASR, IL11, PTH, GNAS
31pamidronate44 50 1110.7BGLAP, CASR, B2M, CALCA, ALPP, PTH
3225-hydroxyvitamin d448.7CASR, B2M, BGLAP, PTH, CALCA, ALPP
33phosphorus448.7PTH, ALPP, CALCA, CASR, B2M, BGLAP
34hydroxyapatite448.7ALPP, IL11, CASR, BGLAP, ALPL
35testosterone44 61 24 1111.6ALPP, PTH, BGLAP, B2M, CALCA
361,25 dihydroxy vitamin d3448.4BGLAP, CALCA, CASR, ALPP, IL11, PTH
37thymidine44 249.4IL11, ALPP, B2M, PTH, GNAS
38creatinine448.4PTH, B2M, CALCA, ALPP, PDLIM3, CASR
39cyclosporin a44 28 6110.3CALCA, ALPP, CASR, IL11, BGLAP, B2M
40cyclic amp44 249.3PTH, ALPPL2, CALCA, CASR, IL11, GNAS
41aspartate448.3BGLAP, B2M, IL11, ALPL, ALPP
42vegf448.3PTH, IL11, ALPP, BGLAP, B2M, CALCA
43alanine448.2GNAS, BGLAP, IL11, B2M, CASR, ALPP
44calcitriol44 61 24 1111.1CASR, IL11, BGLAP, B2M, CALCA, ALPP
45magnesium44 24 1110.1ALPPL2, ALPL, ALPP, PTH, CASR
46estrogen448.0ALPP, CALCA, CASR, IL11, PTH, BGLAP
47cysteine447.9IL11, ALPP, ALPL, GNAS, BGLAP, B2M
48pge2447.7ALPP, PTH, B2M, BGLAP, GNAS, CASR
49vitamin d447.6B2M, IL11, PTH, CASR, ALPL, BGLAP
50calcium44 50 24 1110.0PDLIM3, 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:0312258.7ALPP, ALPL, ALPPL2
2extracellular regionGO:0055768.0B2M, BGLAP, GNAS, PTH, IL11, CALCA
3extracellular spaceGO:0056158.0ALPL, CALCA, IL11, PTH, BGLAP, B2M
4plasma membraneGO:0058867.1GNAS, CASR, ALPPL2, ALPL, 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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Sources for Osteitis Fibrosa

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet