MCID: OST004
MIFTS: 49

Osteitis Fibrosa malady

Bone diseases category

Summaries for Osteitis Fibrosa

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8Disease Ontology, 63Wikipedia, 32MalaCards
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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 hyperparathyroidism and primary hyperparathyroidism. An important gene associated with Osteitis Fibrosa is PDLIM3 (PDZ and LIM domain 3), and among its related pathways are Transcription Role of VDR in regulation of genes involved in osteoporosis and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds sevelamer and strontium ranelate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone and kidney, and related mouse phenotypes are cardiovascular system and mortality/aging.

Wikipedia:63 Osteitis fibrosa cystica /ˌɒstiːˈaɪtɨs faɪˈbroʊsə ˈsɪstɨkə/, abbreviated OFC, also known... more...

Aliases & Classifications for Osteitis Fibrosa

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60UMLS, 8Disease Ontology, 10DISEASES, 44Novoseek, 56SNOMED-CT, 39NCIt, 34MeSH
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Classifications:

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


Aliases & Descriptions:

osteitis fibrosa 8 10 44
osteitis fibrosa cystica generalisata 8
von recklinghausen's bone disease 8
hyperparathyroid bone disease 8
osteitis fibrosa disseminata 60


External Ids:

Disease Ontology8 DOID:3341
NCIt39 C34875
MeSH34 D010002

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 127)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism31.3CASR, CALCA, BGLAP, KNTC1, PTH, ALPL
2primary hyperparathyroidism31.1ALPP, PTH, CASR, CALCA, BGLAP
3adenoma31.0PTH, GNAS, CASR, CALCA
4parathyroid adenoma31.0CALCA, CASR, GNAS, PTH, ALPPL2, ALPP
5osteomalacia30.7ALPPL2, ALPP, ALPL, PTH, KNTC1, GNAS
6pseudohypoparathyroidism30.7PTH, GNAS, CALCA, BGLAP
7mccune albright syndrome30.6GNAS
8giant cell tumor30.6BGLAP, CALCA
9thyroiditis30.4CALCA
10rickets30.4ALPP, PTH, CASR, BGLAP
11renal osteodystrophy30.4ALPPL2, ALPP, ALPL, PTH, KNTC1, CASR
12multiple myeloma30.2B2M
13parathyroid carcinoma30.2CASR, PTH
14osteosclerosis30.2ALPPL2, ALPP, ALPL, PTH
15calcinosis30.2ALPPL2, ALPP, ALPL, PTH, CASR
16myeloma30.2BGLAP, B2M, IL11, ALPL, ALPP, ALPPL2
17hypercalcemia30.2ALPPL2, ALPP, ALPL, PTH, B2M, CASR
18osteoporosis30.2ALPPL2, ALPP, ALPL, PTH, IL11, CASR
19uremia30.0PTH, B2M, CASR
20neurofibromatosis10.2
21oxyphilic adenoma10.2
22calciphylaxis10.2
23cranial nerve palsy10.2
24liposarcoma10.2
25paraplegia10.2
26periostitis10.2
27turner syndrome10.2
28dwarfism10.2
29monostotic fibrous dysplasia10.2
30insulin resistance10.0GNAS
31obesity10.0GNAS
32growth hormone deficiency10.0BGLAP
33peritonitis10.0B2M
34hyperostosis10.0BGLAP
35atherosclerosis10.0CASR
36hyperprolactinemia10.0GNAS
37congenital hypothyroidism10.0GNAS
38leydig cell tumor10.0GNAS
39stomach cancer10.0CASR
40liver cirrhosis10.0IL11
41adenocarcinoma10.0CASR
42gingivitis10.0ALPP
43asthma10.0IL11
44chronic pyelonephritis10.0B2M
45nephrolithiasis10.0PTH, CASR
46essential hypertension10.0GNAS
47hepatitis10.0ALPP
48dysgerminoma10.0ALPP
49sarcoidosis10.0ALPP
50hypoparathyroidism familial isolated10.0PTH, CASR

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



Diseases related to osteitis fibrosa

Clinical Features for Osteitis Fibrosa

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Drugs & Therapeutics for Osteitis Fibrosa

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Osteitis Fibrosa

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Anatomical Context for Osteitis Fibrosa

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32MalaCards, 14FMA
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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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36MGI
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MGI Mouse Phenotypes related to Osteitis Fibrosa:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5ALPL, PTH, B2M, PDLIM3, GNAS, CALCA
2MP:00107687.4ALPP, CALCA, CASR, GNAS, PDLIM3, B2M

Publications for Osteitis Fibrosa

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Sources:
50PubMed
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Articles related to Osteitis Fibrosa:

(show top 50)    (show all 142)
idTitleAuthorsYear
1
Radiographical appearance of osteitis fibrosa cystica in primary hyperparathyroidism before and after parathyroidectomy. (23365170)
2013
2
Hyperparathyroidism-jaw tumour syndrome detected by aggressive generalized osteitis fibrosa cystica. (23858315)
2013
3
Osteitis fibrosa is mediated by Platelet-Derived Growth Factor-A via a phosphoinositide 3-kinase-dependent signaling pathway in a rat model for chronic hyperparathyroidism. (18635661)
2008
4
Cytokine accumulation in osteitis fibrosa of renal osteodystrophy. (11743611)
2002
5
Recovery pattern of patients with osteitis fibrosa cystica in primary hyperparathyroidism after successful parathyroidectomy. (12490858)
2002
6
Tc99m-sestamibi uptake in osteitis fibrosa cystica simulating metastatic bone disease. (11701666)
2001
7
False positive 99mTc sestamibi scans in patients with osteitis fibrosa cystica and brown tumours. (11716445)
2001
8
Images in haematology. Osteitis fibrosa cystica generalisata with adult T-cell leukaemia: a case report. (11054056)
2000
9
22-Oxacalcitriol ameliorates high-turnover bone and marked osteitis fibrosa in rats with slowly progressive nephritis. (10594779)
1999
10
Comment on marked improvement in bone mass after parathyroidectomy in osteitis fibrosa cystica. (9768702)
1998
11
Marked improvement in bone mass after parathyroidectomy in osteitis fibrosa cystica. (9506717)
1998
12
Current advances in the therapy of secondary hyperparathyroidism and osteitis fibrosa. (1813787)
1991
13
Marked direct suppression of primary hyperparathyroidism with osteitis fibrosa cystica by intravenous administration of 1,25-dihydroxycholecalciferol. (2615719)
1989
14
Intravenous calcitriol in the treatment of refractory osteitis fibrosa of chronic renal failure. (2631697)
1989
15
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
16
Advanced osteitis fibrosa cystica in the absence of phalangeal subperiosteal resorption. A case report and review of the literature. (3966183)
1985
17
Fine needle aspiration of osteitis fibrosa cystica. (3836078)
1985
18
Hyperparathyroidism with osteitis fibrosa cystica in the maxilla. (6715975)
1984
19
The first recorded case of osteitis fibrosa cystica. (7471024)
1981
20
Vitamin D metabolism during recovery from severe osteitis fibrosa cystica of primary hyperparathyroidism. (6893459)
1980
21
VIIth and VIIIth cranial nerve palsies due to parathyroid adenoma with associated osteitis fibrosa cystica. (1100742)
1975
22
Periosteal new bone formation (periosteal neostosis) in renal osteodystrophy. Relationship to osteosclerosis, osteitis fibrosa, and osteoid excess. (4204516)
1974
23
Renal resistance to parathyroid hormone with hyperphosphatemic osteomalacia and osteitis fibrosa. A case report. (4433369)
1974
24
Normacalcaemic primary hyperparathyroidism with osteitis fibrosa. (5138753)
1971
25
Role of the parathyroids in the production of osteitis fibrosa and soft tissue calcification by lead acetate. (13987863)
1963
26
MANDIBULAR OSTEITIS FIBROSA CYSTICA SECONDARY TO PRIMARY HYPERPARATHYROIDISM. (14061144)
1963
27
Osteitis fibrosa induced by calciphylaxis in the absence of the parathyroids. (13910518)
1962
28
Parathyroid hyperplasia, multicystic kidneys, osteitis fibrosa generalisata and metastatic calcification in cirrhotic rats fed N-2-fluorenyldiacetamide. (13981802)
1962
29
Pseudohypoparathyroidism with secondary hyperparathyroidism and osteitis fibrosa. (14457957)
1962
30
Production of osteitis fibrosa by stylomycin aminonucleoside in the parathyroidectomized rat. (13512240)
1958
31
Parathyroid adenoma with osteitis fibrosa cystica. (14364418)
1955
32
Primary hyperparathyroidism with osteitis fibrosa generalisata. (14393313)
1955
33
Parathyroid adenoma with generalized osteitis fibrosa cystica. (13027296)
1953
34
Hyperparathyroidism (generalized osteitis fibrosa). (13063933)
1953
35
Adenoma of the parathyroid; preliminary report of a case associated with osteitis fibrosa cystica. (15411803)
1950
36
Bony tumour of maxilla; osteitis fibrosa? (18903334)
1948
37
Solitary bone cyst of the oscalcis, a form of osteitis fibrosa. (18868077)
1948
38
Three Cysts in the Same Mandible, Not of Dental Origin. ? Solitary Cysts or Osteitis Fibrosa. (19993660)
1947
39
A case of Albright's syndrome (osteitis fibrosa disseminata). (20994132)
1946
40
Albright's Syndrome-A Group of Cases Characterized by Osteitis Fibrosa Disseminata, Areas of Pigmentation and a Gonadal Dysfunction. (21407639)
1941
41
Osteitis Fibrosa of Left Upper Jaw Involving Base of Skull. Osteitis Deformans of Spine. (19992022)
1939
42
HYPERPARATHYROIDISM ASSOCIATED WITH OSTEITIS FIBROSA CYSTICA. (20321251)
1939
43
VI.-General Osteitis Fibrosa: Parathyroidectomy. (19991713)
1938
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
OSTEITIS FIBROSA WITH MULTIPLE BENIGN GIANT-CELL TUMOURS. (20319137)
1933
47
OSTEITIS FIBROSA CYSTICA OCCURRING IN A FLAT BONE: Report of a Case. (18739020)
1923
48
VON RECKLINGHAUSEN'S DISEASE OR OSTEITIS FIBROSA: WITH REPORT OF A CASE PRESENTING MULTIPLE CYSTS AND GIANT-CELL TUMORS. (17864590)
1922
49
Case of Osteitis Fibrosa treated by Resection of 4 in. of Humerus and Insertion of Boiled Beef-bone Graft. (19981587)
1921
50
Osteitis Fibrosa Cystica. (19978488)
1915

Genetic Variations for Osteitis Fibrosa

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Expression for genes affiliated with Osteitis Fibrosa

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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12EMD Millipore, 29KEGG
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Pathways related to Osteitis Fibrosa according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Transcription Role of VDR in regulation of genes involved in osteoporosis
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10.2PTH
2
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.4BGLAP, GNAS, PTH
3
NAD metabolism
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9.0ALPPL2, ALPP, ALPL
49.0ALPPL2, ALPP, ALPL

Compounds for genes affiliated with Osteitis Fibrosa

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44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Osteitis Fibrosa according to GeneCards/GeneDecks:

(show top 50)    (show all 83)
idCompoundScoreTop Affiliating Genes
1sevelamer449.8BGLAP, CASR
2strontium ranelate449.8CASR, CALCA
3calcium gluconate449.7CALCA, BGLAP
4thiazide449.7CASR, BGLAP, CALCA
522-oxacalcitriol449.6CASR, BGLAP, ALPP
6pmma449.5ALPP, B2M, CALCA
7ipriflavone449.5ALPP, CALCA, BGLAP
824,25-dihydroxyvitamin d3449.5ALPP, CALCA, BGLAP
9etidronate449.5BGLAP, ALPP, CALCA
10vitamin k2449.5ALPP, CALCA, BGLAP
11tartrate449.5BGLAP, ALPP, CALCA
12sodium fluoride449.5CALCA, BGLAP, ALPP
13forskolin44 49 1111.5CALCA, PTH, IL11
14alizarin449.5BGLAP, ALPL, ALPP
15risedronate44 59 49 28 1113.5ALPP, CALCA, BGLAP
167,8-dihydroneopterin44 2410.4ALPPL2, ALPL, ALPP
17dihydroneopterin triphosphate44 2410.4ALPL, ALPP, ALPPL2
18pyridinoline449.4BGLAP, ALPP, CALCA
19dihydroxyacetone44 2410.4ALPPL2, ALPP, ALPL
20zoledronic acid449.4ALPP, CALCA, BGLAP
21methimazole44 2 1111.4BGLAP, ALPP, B2M
22levamisole44 1110.4ALPP, ALPL, ALPPL2
23amifostine44 1110.3ALPL, IL11, ALPPL2
24hydroxyproline44 11 2411.2ALPP, PTH, BGLAP, CALCA
25fluoride449.2CALCA, ALPP, BGLAP, B2M
26deoxypyridinoline449.2BGLAP, CALCA, IL11, PTH
27titanium449.2BGLAP, ALPP, IL11
28creatinine449.1PDLIM3, ALPP, PTH, CASR, BGLAP
29acth449.0IL11, CASR, CALCA, GNAS
30calcium carbonate448.9ALPP, PTH, B2M, CALCA, BGLAP
31thyroxine44 249.9CALCA, BGLAP, ALPP, B2M, PTH
32ribonucleic acid448.8GNAS, CASR, PTH, IL11
33cysteine448.8ALPL, CASR, GNAS, B2M, IL11
34alendronate44 49 1110.7BGLAP, ALPP, PTH, CALCA, IL11
35pamidronate44 49 1110.6CALCA, B2M, CASR, ALPP, PTH, BGLAP
3625-hydroxyvitamin d448.6BGLAP, CASR, B2M, PTH, ALPP, CALCA
37phosphorus448.6B2M, CASR, ALPP, BGLAP, CALCA, PTH
38thymidine44 249.6GNAS, ALPP, PTH, IL11, B2M
39hydroxyapatite448.6IL11, ALPP, CASR, ALPL, BGLAP
40magnesium44 11 2410.4PTH, ALPPL2, ALPL, CASR, ALPP
41cyclic amp44 249.4CASR, CALCA, IL11, GNAS, PTH, ALPPL2
421,25 dihydroxy vitamin d3448.3BGLAP, ALPP, PTH, IL11, CASR, CALCA
43aspartate448.3B2M, ALPL, BGLAP, IL11, ALPP
44cyclosporin a44 28 5910.3BGLAP, ALPP, IL11, B2M, CASR, CALCA
45testosterone44 59 11 2411.2B2M, ALPP, BGLAP, CALCA, PTH
46vegf448.2BGLAP, PTH, CALCA, B2M, IL11, ALPP
47alanine448.1B2M, CASR, BGLAP, GNAS, IL11, ALPP
48calcitriol44 59 11 2411.0CALCA, BGLAP, CASR, B2M, IL11, PTH
49vitamin d447.6ALPL, PTH, BGLAP, CALCA, CASR, B2M
50calcium44 49 11 2410.0ALPL, CALCA, CASR, PDLIM3, B2M, IL11

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 to membraneGO:0312258.7ALPL, ALPP, ALPPL2
2extracellular regionGO:0055768.4IL11, B2M, GNAS, CALCA, BGLAP
3extracellular spaceGO:0056157.9ALPL, PTH, IL11, B2M, CALCA, BGLAP

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

idNameGO IDScoreTop Affiliating Genes
1activation of adenylate cyclase activityGO:0071909.8GNAS, CALCA
2response to vitamin DGO:0332809.6ALPL, BGLAP
3positive regulation of cAMP biosynthetic processGO:0308199.6PTH, GNAS, CALCA
4endochondral ossificationGO:0019589.4ALPL, GNAS
5skeletal system developmentGO:0015019.2BGLAP, PTH, ALPL

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

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

Products for genes affiliated with Osteitis Fibrosa

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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet