MCID: OST011
MIFTS: 57

Osteomalacia malady

Bone diseases category

Summaries for Osteomalacia

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Disease Ontology:8 A bone remodeling disease that has material basis in a vitamin d deficiency which results in softening located in bone.

MalaCards: Osteomalacia is related to rickets and hyperparathyroidism. An important gene associated with Osteomalacia is DMP1 (dentin matrix acidic phosphoprotein 1), and among its related pathways are Folate biosynthesis and Osteoblast Signaling. The compounds pge2 and som-230 have been mentioned in the context of this disorder. Affiliated tissues include bone, bone and prostate, and related mouse phenotypes are limbs/digits/tail and skeleton.

Wikipedia:63 Osteomalacia is the softening of the bones caused by defective bone mineralization secondary to... more...

Aliases & Classifications for Osteomalacia

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 27ICD9CM, 39NCIt, 34MeSH
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Classifications:

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


Aliases & Descriptions:

osteomalacia 8 42 10 44 60


External Ids:

Disease Ontology8 DOID:10573
ICD9CM27 268.2
NCIt39 C26838
MeSH34 D010018

Related Diseases for Osteomalacia

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

(show top 50)    (show all 320)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.8BGLAP, NR1I2, CYP27B1, PTH, ALPP
2hyperparathyroidism30.7BGLAP, CALCA, PHEX, CYP27B1, FGF23, SLPI
3osteoporosis30.5SLPI, PTH1R, PTH, ALPL, ALPP, FGF23
4hypophosphatemia30.4BGLAP, CALCA, SFRP4, PHEX, DMP1, MEPE
5primary hyperparathyroidism30.3PTH, ALPP, PTH1R, FGF23, CYP27B1, BGLAP
6hepatitis30.2ALPP
7osteitis fibrosa30.2ALPP, ALPL, PTH, BGLAP
8x-linked hypophosphatemia30.2SFRP4, PHEX, DMP1, MEPE, CYP24A1, CYP27B1
9renal osteodystrophy30.2SLPI, PTH, ALPL, ALPP, FGF23, BGLAP
10hypophosphatasia30.1SLPI, ALPL, ALPP
11uremia30.0PTH
12myeloma30.0BGLAP, ALPL, ALPP
13primary biliary cirrhosis30.0BGLAP, NR1I2, SLPI, ALPP
14prostate cancer30.0BGLAP, FGF7, SLPI, PTH1R
15thyroiditis29.8CALCA
16pancreatitis29.8ALPP, ALPL
17graves' disease29.8BGLAP, CYP27B1, FGF23
18fibrous dysplasia29.8BGLAP, FGF23, ALPL, ALPP
19hypoparathyroidism29.8BGLAP, CALCA, FGF23, PTH1R, PTH, ALPP
20rheumatoid arthritis29.8FGF7, CYP27B1, BGLAP
21galactosemia29.8BGLAP, NR1I2, SLPI, ALPP
22osteosarcoma29.8BGLAP, MEPE, CYP24A1, CYP27B1, SLPI, PTH1R
23mccune albright syndrome29.6FGF23
24giant cell tumor29.6CALCA
25metabolic acidosis29.6PTH, BGLAP
26hypophosphatemic rickets, autosomal dominant29.6SFRP4, PHEX, MEPE, FGF23
27paget's disease of bone29.6BGLAP, CALCA
28osteonecrosis29.6ALPP, ALPL, BGLAP
29colon adenocarcinoma29.6NR1I2, CYP27B1
30adenocarcinoma29.6SSTR2, SSTR1, CYP27B1, FGF7
31pseudohypoparathyroidism29.6BGLAP, CALCA, PTH1R, PTH
32hypothyroidism29.6PTH
33parathyroid adenoma29.6CALCA, PTH, ALPL, ALPP
34psoriasis29.6CYP24A1, CYP27B1, FGF7, SLPI
35adenoma29.6PTH, SSTR3, SSTR1, SSTR2, SSTR5, CALCA
36hyperthyroidism29.6BGLAP, FGF23, SLPI, PTH, ALPL, ALPP
37diabetes mellitus29.6BGLAP, CALCA, CYP27B1, PTH, ALPL, ALPP
38hypercalcemia29.6FGF23, SLPI, PTH1R, PTH, ALPL, ALPP
39fanconi syndrome10.5
40axial osteomalacia10.4
41adult syndrome10.4
42oncogenic osteomalacia10.4
43renal tubular acidosis10.3
44hemangiopericytoma10.2
45neurofibromatosis10.2
46prostatitis10.1
47celiac disease10.1
48hepatitis b10.1
49spondylitis10.1
50osteoblastoma10.0

Graphical network of the top 20 diseases related to Osteomalacia:



Diseases related to osteomalacia

Clinical Features for Osteomalacia

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Drugs & Therapeutics for Osteomalacia

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

Search CenterWatch for Osteomalacia

Drug clinical trials:

Search ClinicalTrials for Osteomalacia

Search NIH Clinical Center for Osteomalacia

Search CenterWatch for Osteomalacia

Genetic Tests for Osteomalacia

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Anatomical Context for Osteomalacia

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Osteomalacia:

32
Bone, Prostate, Kidney, Bone marrow, Testes, Liver, Thyroid, Endothelial, Breast, Lung, Colon

FMA organs/tissues related to Osteomalacia:

14
Bone

Animal Models for Osteomalacia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Osteomalacia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.4FGF23, DMP1, PHEX
2MP:000539010.1PHEX, DMP1, MEPE, CYP24A1, CYP27B1, FGF23
3MP:000536710.0SFRP4, PHEX, CYP24A1, CYP27B1, FGF7, FGF23
4MP:00053899.8SFRP4, NR1I2, CYP24A1, CYP27B1, FGF7, FGF23
5MP:00107689.6CYP24A1, NR1I2, PHEX, SFRP4, FGF23, SLPI
6MP:00053769.5ALPL, CALCA, SFRP4, PHEX, NR1I2, SSTR5
7MP:00053789.4SFRP4, PHEX, SSTR5, CYP24A1, CYP27B1, FGF23

Publications for Osteomalacia

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50PubMed
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Articles related to Osteomalacia:

(show top 50)    (show all 576)
idTitleAuthorsYear
1
Osteomalacia-inducing renal clear cell carcinoma uncovered by 99mTc-Hydrazinonicotinyl-Tyr3-octreotide (99mTc-HYNIC-TOC) scintigraphy. (24089059)
2013
2
Thoracic phosphaturic mesenchymal tumors causing oncogenic osteomalacia. (23618679)
2013
3
Bone scintigraphy and secondary osteomalacia due to nephrotoxicity in a chronic hepatitis B patient treated with tenofovir. (23920225)
2013
4
Hypophosphatemic vitamin D-resistant osteomalacia: A case report. (24137267)
2013
5
Pathological femoral fractures due to osteomalacia associated with adefovir dipivoxil treatment for hepatitis B: a case report. (22906214)
2012
6
Successful treatment of tumor-induced osteomalacia with CT-guided percutaneous ethanol and cryoablation. (22837186)
2012
7
A case of hypophosphatemic osteomalacia secondary to deferasirox therapy. (21956684)
2012
8
Matrix extracellular phosphoglycoprotein is expressed in causative tumors of oncogenic osteomalacia. (21739089)
2012
9
Advanced prostate cancer as a cause of oncogenic osteomalacia: an underdiagnosed condition. (22552356)
2012
10
Osteomalacia: the missing link in the pathogenesis of bisphosphonate-related osteonecrosis of the jaws? (22723507)
2012
11
Osteomalacia due to a bladder reconstruction performed 35 years previously. (22864136)
2012
12
Tumor induced osteomalacia: a forgotten paraneoplastic syndrome? (21985764)
2012
13
Evaluation of bone markers in hypophosphatemic rickets/osteomalacia. (21822687)
2011
14
The importance of whole body imaging in tumor-induced osteomalacia. (22143830)
2011
15
Tumor-induced osteomalacia: a single center experience. (20713341)
2011
16
Coeliac disease causing symptomatic hypocalcaemia, osteomalacia and coagulapathy. (22798310)
2010
17
Levels and dynamic changes of serum fibroblast growth factor 23 in hypophosphatemic rickets/osteomalacia. (20529556)
2010
18
Somatostatin receptor expression in an epitheloid hemangioma causing oncogenic osteomalacia. (19789203)
2009
19
Resolution of severe oncogenic hypophosphatemic osteomalacia after resection of a deeply located soft-tissue tumour. (19862367)
2009
20
Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia. (19419316)
2009
21
Osteomalacia in an HIV-infected man receiving rifabutin, a cytochrome P450 enzyme inducer: a case report. (18226256)
2008
22
Falls and fractures linked to anemia, delirium, osteomalacia, medications, and more: the path to success is strewn with obstacles! (17931586)
2007
23
Osteomalacia associated with a fibroblast growth factor-23 secreting chest wall tumor. (17723842)
2007
24
Oncogenic osteomalacia: muscular weakness and multiple fractures. (16864847)
2006
25
Oncogenic osteomalacia caused by phosphaturic mesenchymal tumor of the temporal bone. (17011438)
2006
26
Severe osteomalacia due to undiagnosed coeliac disease: three case reports of Tunisian women. (15977009)
2006
27
Phosphaturic mesenchymal tumor with symptoms related to osteomalacia that appeared one year after tumorectomy. (17106161)
2006
28
Coexisting hyperparathyroidism and oncogenic osteomalacia: Sestamibi and somatostatin receptor scintigraphy. (16985379)
2006
29
Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice. (15920156)
2005
30
Case 3. Oncogenic osteomalacia associated with hemangiopericytoma localized by octreotide scan. (15908675)
2005
31
Distal renal tubular acidosis: alkali heals osteomalacia and increases net production of 1,25-dihydroxyvitamin D. (16110243)
2005
32
Osteomalacia. (15476000)
2004
33
Vitamin D deficiency rickets and osteomalacia in Israel. (14509137)
2003
34
Iron lactate-induced osteomalacia in association with osteoblast dynamics. (14585733)
2003
35
Spontaneous bilateral displaced femoral neck fractures in nutritional osteomalacia--a case report. (11327423)
2001
36
Phosphate wasting in oncogenic osteomalacia: PHEX is normal and the tumor-derived factor has unique properties. (11336925)
2001
37
Cadmium induces osteomalacia mediated by proximal tubular atrophy and disturbances of phosphate reabsorption. A study of 11 autopsies. (10997741)
2000
38
Nutritional osteomalacia: substantial clinical improvement and gain in bone density posttherapy. (10745306)
2000
39
Indium-111 pentetreotide scintigraphy of mesenchymal tumor with oncogenic osteomalacia. (9988077)
1999
40
High-dose phosphate treatment leads to hypokalemia in hypophosphatemic osteomalacia. (9831311)
1998
41
The PEX gene: its role in X-linked rickets, osteomalacia, and bone mineral metabolism. (9386970)
1997
42
Hypophosphatemic osteomalacia in an elderly patient with generalized bone pain. (8737738)
1996
43
Axial osteomalacia: report of a new case with selective increase in axial bone mineral density. (8806007)
1996
44
A rare cause of osteomalacia: osteosarcoma. (8938876)
1996
45
Musculoskeletal case of the day. Oncogenic osteomalacia. (8659391)
1996
46
Inhibitors of renal epithelial phosphate transport in tumor-induced osteomalacia and uremia. (8608414)
1995
47
Osteomalacia secondary to renal tubular acidosis in a patient with primary SjAPgren's syndrome. (1764843)
1991
48
Severe hypophosphataemia in a patient with Paget's disease of bone: paraneoplastic osteomalacia? (2261746)
1990
49
Oncogenic osteomalacia. (3584490)
1987
50
Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance. Possible relationship with diabetes mellitus. (948541)
1976

Genetic Variations for Osteomalacia

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Expression for genes affiliated with Osteomalacia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteomalacia

Search GEO for disease gene expression data for Osteomalacia.

Pathways for genes affiliated with Osteomalacia

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Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome, 12EMD Millipore
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Compounds for genes affiliated with Osteomalacia

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

(show top 50)    (show all 134)
idCompoundScoreTop Affiliating Genes
1pge24410.8PTH1R
2som-2302810.6SSTR3, SSTR5, SSTR2, SSTR1
3srif-142810.5SSTR3, SSTR2, SSTR5, SSTR1
4srif-282810.5SSTR3, SSTR1, SSTR2, SSTR5
5pasireotide44 1111.5SSTR5, SSTR2, SSTR1, SSTR3
6[d-tyr8]cyn 1548062810.5SSTR5, SSTR2, SSTR1, SSTR3
7[125i]tyr10-cst142810.5SSTR1, SSTR5, SSTR2, SSTR3
8[125i]ltt-srif-282810.5SSTR3, SSTR1, SSTR5, SSTR2
9bim 230522810.5SSTR2, SSTR5, SSTR1, SSTR3
10cgp 239962810.5SSTR3, SSTR1, SSTR2, SSTR5
11deoxypyridinoline4410.5PTH, CALCA, BGLAP
12ke 1082810.5SSTR3, SSTR1, SSTR2, SSTR5
13bim 236272810.5SSTR5, SSTR1, SSTR3, SSTR2
14ipriflavone4410.5ALPP, BGLAP, SLPI, CALCA
15l-362,8552810.5SSTR1, SSTR3, SSTR5, SSTR2
16[l-tyr8]cyn 1548062810.5SSTR5, SSTR2, SSTR1, SSTR3
17bim 234542810.5SSTR5, SSTR2, SSTR1, SSTR3
18cst-172810.5SSTR3, SSTR1, SSTR2, SSTR5
19[125i]cgp 239962810.5SSTR3, SSTR1, SSTR2, SSTR5
20(1r,1s,3r/1r,1r,3s)-l-054,2645910.5SSTR2, SSTR1, SSTR5, SSTR3
21alfacalcidol44 59 1112.5SLPI, CYP27B1, CYP24A1, CALCA, BGLAP
22cyclosomatostatin5910.5SSTR5, SSTR2, SSTR1, SSTR3
2324,25-dihydroxyvitamin d34410.5BGLAP, CALCA, ALPP, CYP27B1, CYP24A1
24cyn 1548065910.5SSTR1, SSTR5, SSTR3, SSTR2
25111in-pentetreotide4410.5SSTR5, CALCA, SSTR2, SSTR1
26calcium carbonate4410.5CALCA, PTH, BGLAP
27cst-142810.4SSTR3, SSTR1, SSTR2, SSTR5
28vitamin k24410.4SLPI, CALCA, BGLAP, ALPP, NR1I2
29somatostatin59 2411.4SSTR2, SSTR5, SSTR1, SSTR3
30etidronate4410.4ALPP, SLPI, BGLAP, CALCA
31octreotide44 59 28 1113.3CALCA, FGF23, SSTR3, SSTR1, SSTR5, SSTR2
32alizarin4410.3SLPI, ALPP, ALPL, BGLAP
33hydroxyapatite4410.3DMP1, BGLAP, FGF23, SLPI, ALPP, ALPL
34alendronate44 49 1112.3SLPI, ALPP, PTH, CALCA, BGLAP
35tartrate4410.2CALCA, BGLAP, SLPI, ALPP
36[111in,90y]dota-oc2810.2SSTR2, SSTR5, SSTR3
37lanreotide44 2811.2SSTR2, SSTR1, SSTR3, SSTR5
38phosphorus4410.2ALPP, PTH, PTH1R, SLPI, FGF23, CYP27B1
3925-hydroxyvitamin d4410.1CALCA, BGLAP, SFRP4, CYP24A1, ALPP, PTH
40hydrocortisone44 2 59 1113.1CALCA, BGLAP, NR1I2, FGF7, SLPI, ALPP
41hydroxyproline44 11 2412.1CALCA, ALPP, PTH, BGLAP, SLPI
42pamidronate44 49 1112.1PTH, ALPP, CALCA, BGLAP
431,25 dihydroxy vitamin d34410.0FGF23, CALCA, BGLAP, PHEX, NR1I2, CYP24A1
44tamoxifen44 49 28 1113.0NR1I2, BGLAP, SSTR2, FGF7, SLPI, PTH
45risedronate44 59 49 28 1114.0BGLAP, CALCA, SLPI, ALPP
46thymidine44 2411.0SSTR2, FGF7, SLPI, PTH1R, SSTR5, ALPP
47bim 23197289.9SSTR3, SSTR5, SSTR2
48calcitriol44 59 11 2412.8PTH, SFRP4, PHEX, MEPE, NR1I2, CYP24A1
49vitamin d449.8ALPP, ALPL, PTH, PTH1R, SLPI, FGF23
50calcium44 49 11 2412.4ALPP, DMP1, PHEX, CALCA, BGLAP, NR1I2

GO Terms for genes affiliated with Osteomalacia

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

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:00588710.0SSTR5, SSTR2, SSTR1, SSTR3, PTH1R, PHEX
2extracellular spaceGO:0056159.7ALPL, PTH, FGF23, SFRP4, CALCA, BGLAP

Biological processes related to Osteomalacia according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1vitamin D catabolic processGO:04236910.6FGF23, CYP27B1, CYP24A1
2somatostatin signaling pathwayGO:03817010.6SSTR3, SSTR5
3positive regulation of vitamin D 24-hydroxylase activityGO:01098010.6FGF23, CYP27B1
4hormone-mediated apoptotic signaling pathwayGO:00862810.5PTH, SSTR3
5phosphate ion homeostasisGO:05506210.5SFRP4, FGF23
6cellular response to estradiol stimulusGO:07139210.5SSTR2, SSTR1, SSTR3
7cerebellum developmentGO:02154910.5SSTR3, SSTR1, SSTR2
8adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00718910.5PTH, PTH1R, CALCA
9response to vitamin DGO:03328010.5BGLAP, CYP24A1, CYP27B1, ALPL
10response to starvationGO:04259410.5SSTR2, SSTR1, SSTR3
11bone mineralizationGO:03028210.5BGLAP, PHEX, CYP27B1, PTH1R
12G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messengerGO:00718710.4PTH1R, SSTR3, SSTR1, SSTR2, SSTR5
13steroid metabolic processGO:00820210.4CYP27B1, CYP24A1, NR1I2
14vitamin D metabolic processGO:04235910.4CYP24A1, CYP27B1
15forebrain developmentGO:03090010.3SSTR3, SSTR1, SSTR2
16cellular response to glucocorticoid stimulusGO:07138510.3SSTR3, SSTR2
17skeletal system developmentGO:00150110.3BGLAP, PHEX, MEPE, PTH1R, PTH, ALPL
18decidualizationGO:04669710.3CYP27B1, SFRP4
19cell-cell signalingGO:00726710.3CALCA, PHEX, SSTR2, SSTR1, SSTR3, PTH
20negative regulation of cell proliferationGO:00828510.2SFRP4, SSTR5, SSTR2, SSTR1, SSTR3, CYP27B1
21regulation of bone mineralizationGO:03050010.2CYP27B1, BGLAP
22negative regulation of bone mineralizationGO:03050210.0FGF23, MEPE

Molecular functions related to Osteomalacia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:00403510.3ALPP, ALPL
2somatostatin receptor activityGO:0049949.8SSTR3, SSTR1, SSTR2, SSTR5

Products for genes affiliated with Osteomalacia

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Sources for Osteomalacia

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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