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 calcium gluconate 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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Sources:
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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Sources:
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:

Search CenterWatch for Osteitis Fibrosa

Drug clinical trials:

Search ClinicalTrials for Osteitis Fibrosa

Search NIH Clinical Center for Osteitis Fibrosa

Search CenterWatch for Osteitis Fibrosa

Genetic Tests for Osteitis Fibrosa

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Anatomical Context for Osteitis Fibrosa

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Sources:
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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Sources:
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
A rare case of primary hyperparathyroidism and osteitis fibrosa cystica. (20919975)
2010
2
Oxyphilic cell adenoma of parathyroid resulting in primary hyperparathyroidism and osteitis fibrosa cystica--a case report. (17001919)
2006
3
Pathologic fracture of the distal femur in osteitis fibrosa cystica simulating metastatic disease. (15168133)
2004
4
Osteitis fibrosa cystica, coeliac disease and Turner syndrome. A case report. (15285529)
2004
5
NPS R-568 halts or reverses osteitis fibrosa in uremic rats. (9461105)
1998
6
Osteitis fibrosa cystica with renal parathyroid hormone resistance: a review of pseudohypoparathyroidism with insight into calcium homeostasis. (9637471)
1998
7
Osteitis fibrosa cystica and chronic renal failure. (9158318)
1997
8
Spontaneous healing of osteitis fibrosa cystica in primary hyperparathyroidism. (9015472)
1996
9
Intravenous calcitriol can increase bone mass in hemodialysis patients with osteitis fibrosa. (7565429)
1995
10
Case management of the anemic patient: epoetin alfa--focus on osteitis fibrosa. (8285805)
1993
11
Osteitis fibrosa cystica simulating metastatic tumor. An almost-forgotten relationship. (8249919)
1993
12
Osteitis fibrosa cystica (brown tumor) in a patient with renal transplantation. Report of a case with aspiration cytodiagnosis. (1636352)
1992
13
Calcitriol for osteitis fibrosa. (2594044)
1989
14
Persistence of bone resorptions following treatment of renal osteitis fibrosa. (3354757)
1988
15
Parathyroid hormone and bone histology: response to hypocalcemia in osteitis fibrosa. (6727140)
1984
16
Healing of osteitis fibrosa cystica after partial parathyroidectomy despite persistent parathyroid hyperfunction: a case report. (7154936)
1982
17
Dialysate calcium levels, dialysis hours and the healing of osteitis fibrosa. (1067489)
1976
18
Sensorineural deafness due to osteitis fibrosa. (1244830)
1976
19
Normocalcemic primary hyperparathyroidism with osteitis fibrosa. (5454261)
1970
20
Oral roentgenographic findings in osteitis fibrosa generalisata associated with chronic renal disease. (5256753)
1969
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
PSEUDOHYPOPARATHYROIDISM WITH OSTEITIS FIBROSA CYSTICA AND IMPAIRED ABSORPTION OF CALCIUM. (14059552)
1963
23
Parathyroid tumour with osteitis fibrosa cystica. Case report with review. (13984952)
1962
24
Occult malabsorption causing osteitis fibrosa cystica. Report of one case with review. (13885890)
1962
25
Generalized osteitis fibrosa cystica of uncertain aetiology. (13248461)
1955
26
Renal osteitis fibrosa cystica in a wire-haired fox terrier. (13142972)
1954
27
Giant-cell tumor of the mandible associated with hyperparathyroidism and osteitis fibrosa cystica generalisata. (13154918)
1954
28
Localized swelling of the mandible; a case of osteitis fibrosa. (13120127)
1954
29
Simultaneous occurrence of von Recklinghausen's neurofibromatosis and osteitis fibrosa cystica; report of a case showing both diseases in addition to liposarcoma. (13038632)
1953
30
Clinicopathologic conference; polycystic kidneys with generalized osteitis fibrosa cystica and parathyroid hyperplasia. (14909823)
1952
31
A case of diffuse osteitis fibrosa with remodelling of the jaw by intra-oral approach. (14895776)
1951
32
WEEKLY clinicopathological exercises: parathyroid adenoma; osteitis fibrosa generalisata. (14875206)
1951
33
Benign giant cell tumor or localized osteitis fibrosa cystica. (14846598)
1950
34
Report of a case of long standing renal insufficiency with extensive metastatic calcifications (renal osteitis fibrosa cystica). (14771322)
1950
35
Renal rickets and osteitis fibrosa in children and adolescents. (14783721)
1950
36
Hyperplasia of the parathyroids associated with osteitis fibrosa in rats treated with thiouracil and related compounds. (18128092)
1949
37
A case of osteitis fibrosa cystica. (18124462)
1949
38
Osteitis fibrosa disseminata. (18124584)
1949
39
Renal hyperparathyroidism or renal rickets, renal dwarfism, renal infantilism, renal osteitis fibrosa cystica. (15390727)
1949
40
A case of localized osteitis fibrosa of the skull. (18895135)
1948
41
Three Cysts in the Same Mandible, Not of Dental Origin.A ? Solitary Cysts or Osteitis Fibrosa. (20918057)
1947
42
Regional Osteitis Fibrosa Affecting the Facial Bones: Two Cases. (19993551)
1947
43
Osteitis Fibrosa of Left Superior Maxilla. (19992021)
1939
44
Osseous dystrophy following icterus gravis neonatorum: Generalized Osteitis Fibrosa with Areas of Pigmentation of the Skin and Precocious Puberty in the Female. (21032145)
1939
45
Generalized Osteitis Fibrosa. Rapid Recalcification of Bone after Complete Parathyroidectomy. (19990406)
1935
46
Osteitis Fibrosa of Maxilla and Cranium: (Section of Odontology). (19990491)
1935
47
Osteitis Fibrosa. (19970015)
1932
48
Hyperparathyroidism: Generalized Osteitis Fibrosa with Multiple Osteoclastomata. (19987984)
1931
49
OSTEITIS FIBROSA WITH INITIAL SYMPTOMS RESEMBLING RHEUMATIC INFECTION: REPORT OF CASE. (20775568)
1930
50
OSTEITIS FIBROSA: CASE REPORTS SUGGESTING A TRAUMATIC ORIGIN. (17866324)
1930

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

Search GEO for disease gene expression data for Osteitis Fibrosa.

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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Sources:
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
1sevelamer449.8CASR, BGLAP
2calcium gluconate449.8BGLAP, CALCA
3thiazide449.7CALCA, BGLAP, CASR
422-oxacalcitriol449.6ALPP, BGLAP, CASR
5etidronic acid44 49 1111.6ALPP, CALCA
6pmma449.5CALCA, B2M, ALPP
7ipriflavone449.5ALPP, BGLAP, CALCA
8etidronate449.5ALPP, CALCA, BGLAP
924,25-dihydroxyvitamin d3449.5BGLAP, CALCA, ALPP
10vitamin k2449.5BGLAP, CALCA, ALPP
11tartrate449.5ALPP, CALCA, BGLAP
12sodium fluoride449.5BGLAP, ALPP, CALCA
13forskolin44 49 1111.5CALCA, IL11, PTH
14alizarin449.5BGLAP, ALPL, ALPP
15risedronate44 59 49 28 1113.5CALCA, ALPP, BGLAP
167,8-dihydroneopterin44 2410.4ALPL, ALPP, ALPPL2
17dihydroneopterin triphosphate44 2410.4ALPPL2, ALPL, ALPP
18dihydroxyacetone44 2410.4ALPPL2, ALPP, ALPL
19pyridinoline449.4ALPP, CALCA, BGLAP
20zoledronic acid449.4CALCA, ALPP, BGLAP
21methimazole44 2 1111.4BGLAP, B2M, ALPP
22levamisole44 1110.4ALPP, ALPL, ALPPL2
23amifostine44 1110.3ALPL, ALPPL2, IL11
24hydroxyproline44 11 2411.2ALPP, PTH, CALCA, BGLAP
25fluoride449.2ALPP, B2M, CALCA, BGLAP
26deoxypyridinoline449.2BGLAP, CALCA, IL11, PTH
27titanium449.2BGLAP, IL11, ALPP
28creatinine449.1CASR, ALPP, PTH, PDLIM3, BGLAP
29acth449.0CASR, GNAS, IL11, CALCA
30calcium carbonate448.9BGLAP, CALCA, PTH, ALPP, B2M
31thyroxine44 249.9ALPP, B2M, CALCA, BGLAP, PTH
32ribonucleic acid448.8CASR, GNAS, IL11, PTH
33cysteine448.8CASR, GNAS, B2M, IL11, ALPL
34alendronate44 49 1110.7CALCA, PTH, IL11, BGLAP, ALPP
35pamidronate44 49 1110.6B2M, PTH, ALPP, CALCA, CASR, BGLAP
3625-hydroxyvitamin d448.6PTH, B2M, CASR, CALCA, ALPP, BGLAP
37phosphorus448.6ALPP, PTH, CASR, CALCA, B2M, BGLAP
38thymidine44 249.6PTH, IL11, GNAS, B2M, ALPP
39hydroxyapatite448.6BGLAP, CASR, IL11, ALPL, ALPP
40magnesium44 11 2410.4ALPP, ALPPL2, CASR, PTH, ALPL
41cyclic amp44 249.4IL11, ALPPL2, CASR, CALCA, GNAS, PTH
421,25 dihydroxy vitamin d3448.3CASR, BGLAP, CALCA, PTH, IL11, ALPP
43aspartate448.3IL11, BGLAP, B2M, ALPL, ALPP
44cyclosporin a44 28 5910.3CALCA, ALPP, IL11, B2M, CASR, BGLAP
45testosterone44 59 11 2411.2BGLAP, B2M, CALCA, PTH, ALPP
46vegf448.2CALCA, ALPP, PTH, IL11, BGLAP, B2M
47alanine448.1B2M, CASR, ALPP, BGLAP, GNAS, IL11
48calcitriol44 59 11 2411.0CALCA, ALPP, PTH, IL11, BGLAP, B2M
49vitamin d447.6B2M, ALPL, PTH, IL11, CASR, ALPP
50calcium44 49 11 2410.0GNAS, BGLAP, CALCA, ALPP, ALPL, PTH

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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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