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, Thyroid, Bone marrow, Liver, Testes, Lung, Breast, Endothelial, 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
Deliberate total parathyroidectomy: a potentially novel therapy for tumor-induced hypophosphatemic osteomalacia. (23956343)
2013
2
Oncogenic osteomalacia due to phosphaturic mesenchymal tumor of the craniofacial sinuses. (22461817)
2011
3
Dual paraneoplastic syndromes: small cell lung carcinoma-related oncogenic osteomalacia, and syndrome of inappropriate antidiuretic hormone secretion: report of a case and review of the literature. (21886301)
2011
4
Osteomalacia with severe thoracic and spondylous deformity complicated by osteoporosis. (22689602)
2011
5
Tenofovir-induced Fanconi syndrome and osteomalacia in two HIV-infected patients: role of intracellular tenofovir diphosphate levels and review of the literature. (21563880)
2011
6
Interesting image. The search for primary tumor in a patient with oncogenic osteomalacia: F-18 FDG PET resolves the conundrum. (20940555)
2010
7
Early predisposition to osteomalacia in Indian adults on phenytoin or valproate monotherapy and effective prophylaxis by simultaneous supplementation with calcium and 25-hydroxy vitamin D at recommended daily allowance dosage: a prospective study. (20508338)
2010
8
The levels of somatostatin receptors in causative tumors of oncogenic osteomalacia are insufficient for their agonist to normalize serum phosphate levels. (20458578)
2010
9
Osteoporosis and osteomalacia. (21092845)
2010
10
Severe hypophosphatemic osteomalacia with Fanconi syndrome, renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis. (19252361)
2009
11
Spine surgeons survey on attitudes regarding osteoporosis and osteomalacia screening and treatment for fractures, fusion surgery, and pseudoarthrosis. (19560054)
2009
12
Tumor-induced osteomalacia. (20228870)
2009
13
Oncogenic osteomalacia from pterygopalatine fossa mass. (19250593)
2009
14
Osteomalacia presenting as pain syndromes of uncertain etiology. (19489344)
2009
15
Snails in bottles and language cuckoos: an evaluation of patient information resources for South Asians with osteomalacia. (19174572)
2009
16
Phosphaturic mesenchymal tumour-mixed connective tissue variant without oncogenic osteomalacia. (19638551)
2009
17
Oncogenic osteomalacia, a rare paraneoplastic syndrome due to phosphate wasting--a case report and review of the literature. (19000546)
2008
18
Case report: Solitary plasmacytoma of bone with oncogenic osteomalacia: recurrence of tumour confirmed by PET/CT. A case report with a review of the radiological literature. (18344267)
2008
19
Acquired hypophosphatemia osteomalacia associated with Fanconi's syndrome in SjAPgren's syndrome. (17094001)
2007
20
Osteomalacia and secondary hyperparathyroidism after kidney transplantation: Relationship to vitamin D deficiency. (17220696)
2007
21
A case of phosphaturic mesenchymal tumour (mixed connective tissue variant) that developed in the subcutaneous tissue of a patient with oncogenic osteomalacia and produced fibroblast growth factor 23. (17489977)
2007
22
Phenobarbital suppresses vitamin D3 25-hydroxylase expression: a potential new mechanism for drug-induced osteomalacia. (17445763)
2007
23
Radiofrequency ablation of a tumor causing oncogenic osteomalacia. (17652663)
2007
24
Rickets/osteomalacia due to tubular dysfunction]. (17906404)
2007
25
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. (17033621)
2006
26
Severe hypophosphatemic osteomalacia in hormone-refractory prostate cancer metastatic to the skeleton: natural history and pitfalls in management. (15663996)
2005
27
Meat consumption reduces the risk of nutritional rickets and osteomalacia. (16351777)
2005
28
Presentation of osteomalacia in Kohistani women. (15631376)
2004
29
Bilateral simultaneous combined intra- and extracapsular femoral neck fracture secondary to nutritional osteomalacia: a case report. (12769024)
2003
30
False-positive magnetic resonance imaging skeletal survey in a patient with sporadic hypophosphatemic osteomalacia. (12491095)
2003
31
FGF-23 on hypophosphatemic rickets/osteomalacia]. (15775350)
2002
32
Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. (12414858)
2002
33
Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone. (11414762)
2001
34
Osteomalacia in a vitamin D-deficient woman with Graves' disease. (11603577)
2001
35
Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem. (11157997)
2001
36
Osteomalacia associated with carbamazepine/valproate. (10676838)
2000
37
Oncogenic osteomalacia secondary to a hemangiopericytoma of the hip: case report. (10047746)
1999
38
Oncogenic osteomalacia as a harbinger of recurrent osteosarcoma. (18521270)
1999
39
Oncogenic osteomalacia: is there a new phosphate regulating hormone? (9497867)
1997
40
Coexisting hyperthyroidism and primary hyperparathyroidism with vitamin D-deficient osteomalacia in a Vietnamese immigrant. (15251523)
1996
41
Osteomalacia with hypophosphatemia and hypercalciuria: a possible new variant of osteomalacia. (7608793)
1995
42
Hypophosphatemic osteomalacia acquired after renal transplantation: a a cause of severe osteoporosis]. (7569451)
1995
43
Oncogenic osteomalacia. (8084347)
1994
44
Oncogenic osteomalacia: a clinicopathologic study of 17 bone lesions. (7848576)
1994
45
Oncogenic osteomalacia: imaging studies. (8387360)
1993
46
1 alpha,25-dihydroxyvitamin D3 corrects osteomalacia in hypoparathyroidism and pseudohypoparathyroidism. (6687971)
1983
47
Atypical axial osteomalacia. Report of four cases with two having features of ankylosing spondylitis. (737002)
1978
48
Neurogenic muscle atrophy and osteomalacia in adult Fanconi syndrome. (889295)
1977
49
Osteomalacia and spontaneous fractures in twins with congenital cytomegalic inclusion disease. (4338382)
1972
50
A CASE OF OSTEITIS FIBROSA CYSTICA (OSTEOMALACIA?) WITH EVIDENCE OF HYPERACTIVITY OF THE PARA-THYROID BODIES. METABOLIC STUDY I. (16693892)
1930

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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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-2302810.6SSTR5, SSTR2, SSTR1, SSTR3
3l-362,8552810.5SSTR2, SSTR5, SSTR1, SSTR3
4bim 236272810.5SSTR3, SSTR1, SSTR2, SSTR5
5ke 1082810.5SSTR5, SSTR2, SSTR1, SSTR3
6cgp 239962810.5SSTR5, SSTR2, SSTR1, SSTR3
7bim 234542810.5SSTR3, SSTR1, SSTR5, SSTR2
8pasireotide44 1111.5SSTR2, SSTR1, SSTR3, SSTR5
9[d-tyr8]cyn 1548062810.5SSTR5, SSTR2, SSTR1, SSTR3
10[l-tyr8]cyn 1548062810.5SSTR5, SSTR2, SSTR1, SSTR3
11deoxypyridinoline4410.5BGLAP, CALCA, PTH
12srif-282810.5SSTR3, SSTR1, SSTR2, SSTR5
13srif-142810.5SSTR5, SSTR2, SSTR1, SSTR3
14[125i]tyr10-cst142810.5SSTR5, SSTR2, SSTR1, SSTR3
15ipriflavone4410.5BGLAP, CALCA, SLPI, ALPP
16[125i]ltt-srif-282810.5SSTR5, SSTR2, SSTR1, SSTR3
17bim 230522810.5SSTR5, SSTR2, SSTR1, SSTR3
18[125i]cgp 239962810.5SSTR5, SSTR2, SSTR1, SSTR3
19cst-172810.5SSTR5, SSTR2, SSTR1, SSTR3
20(1r,1s,3r/1r,1r,3s)-l-054,2645910.5SSTR1, SSTR2, SSTR5, SSTR3
21alfacalcidol44 59 1112.5BGLAP, CALCA, CYP24A1, CYP27B1, SLPI
22cst-142810.5SSTR3, SSTR1, SSTR2, SSTR5
2324,25-dihydroxyvitamin d34410.5BGLAP, CALCA, CYP24A1, CYP27B1, ALPP
24cyclosomatostatin5910.5SSTR5, SSTR3, SSTR1, SSTR2
25calcium carbonate4410.5BGLAP, CALCA, PTH
26cyn 1548065910.4SSTR3, SSTR1, SSTR2, SSTR5
27111in-pentetreotide4410.4CALCA, SSTR5, SSTR2, SSTR1
28vitamin k24410.4BGLAP, CALCA, NR1I2, SLPI, ALPP
29somatostatin59 2411.4SSTR5, SSTR2, SSTR1, SSTR3
30etidronate4410.4BGLAP, CALCA, SLPI, ALPP
31octreotide44 59 28 1113.3CALCA, SSTR5, SSTR2, SSTR1, SSTR3, FGF23
32alizarin4410.3ALPP, ALPL, SLPI, BGLAP
33hydroxyapatite4410.3BGLAP, DMP1, FGF23, SLPI, ALPL, ALPP
34alendronate44 49 1112.3BGLAP, CALCA, SLPI, PTH, ALPP
35tartrate4410.2ALPP, SLPI, CALCA, BGLAP
36l-363,3012810.2SSTR3, SSTR2, SSTR5
37lanreotide44 2811.2SSTR5, SSTR2, SSTR1, SSTR3
38phosphorus4410.2BGLAP, CALCA, PHEX, CYP27B1, FGF23, SLPI
3925-hydroxyvitamin d4410.1ALPP, BGLAP, CALCA, SFRP4, CYP24A1, CYP27B1
40hydrocortisone44 2 59 1113.1BGLAP, CALCA, NR1I2, FGF7, SLPI, ALPP
41hydroxyproline44 11 2412.1BGLAP, CALCA, SLPI, PTH, ALPP
42pamidronate44 49 1112.1BGLAP, CALCA, PTH, ALPP
431,25 dihydroxy vitamin d34410.0PHEX, NR1I2, CYP24A1, CYP27B1, FGF7, FGF23
44tamoxifen44 49 28 1113.0BGLAP, NR1I2, SSTR2, FGF7, SLPI, PTH
45risedronate44 59 49 28 1114.0BGLAP, CALCA, SLPI, ALPP
46thymidine44 2411.0NR1I2, SSTR5, SSTR2, FGF7, SLPI, PTH1R
47bim 23023289.9SSTR3, SSTR2, SSTR5
48calcitriol44 59 11 2412.8BGLAP, CALCA, SFRP4, PHEX, MEPE, NR1I2
49vitamin d449.7ALPP, ALPL, BGLAP, CALCA, PHEX, DMP1
50calcium44 49 11 2412.4ALPP, CALCA, SFRP4, PHEX, DMP1, 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