MCID: OST011
MIFTS: 52

Osteomalacia malady

Rare diseases, Bone diseases categories

Summaries for Osteomalacia

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Disease Ontology:9 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 Osteoblast Signaling and G alpha (s) signalling events. The compounds hydroxyapatite and 24,25-dihydroxyvitamin d3 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 renal/urinary system.

Wikipedia:66 Osteomalacia is the softening of the bones caused by defective bone mineralization secondary to... more...

Aliases & Classifications for Osteomalacia

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 63UMLS, 28ICD9CM, 59SNOMED-CT, 41NCIt, 36MeSH
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Classifications:

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


Aliases & Descriptions:

osteomalacia 9 44 11 46 63


External Ids:

Disease Ontology9 DOID:10573
ICD9CM28 268.2
NCIt41 C26838
MeSH36 D010018

Related Diseases for Osteomalacia

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Osteomalacia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 274)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.9DMP1, FGF23, PHEX, CYP24A1
2hyperparathyroidism30.8PHEX, CALCA, FGF23
3osteoporosis30.5FGF23, CYP24A1, CALCA, PTH1R
4hypophosphatemia30.4PHEX, DMP1, CALCA, FGF23
5primary hyperparathyroidism30.4PTH1R, CALCA, FGF23
6x-linked hypophosphatemia30.3DMP1, PHEX, FGF23
7renal osteodystrophy30.3FGF23, CALCA
8paraneoplastic syndromes30.2FGF23, PHEX
9hypoparathyroidism29.9FGF23, PTH1R, CALCA
10hypophosphatemic rickets, autosomal dominant29.8PHEX, FGF23
11giant cell tumor29.7CALCA, FGF23
12pseudohypoparathyroidism29.7CALCA, PTH1R
13hypercalcemia29.7FGF23, PTH1R, CALCA
14oncogenic osteomalacia10.9
15fanconi syndrome10.5
16axial osteomalacia10.4
17renal tubular acidosis10.3
18hemangiopericytoma10.3
19neurofibromatosis10.2
20osteitis fibrosa10.2
21hepatitis10.2
22prostatitis10.2
23celiac disease10.1
24hepatitis b10.1
25hypophosphatasia10.1
26spondylitis10.1
27ankylosing spondylitis10.0
28osteoblastoma10.0
29primary biliary cirrhosis10.0
30arthritis10.0
31hemangioma10.0
32myeloma10.0
33prostate cancer10.0
34uremia10.0
35secondary hyperparathyroidism of renal origin10.0FGF23, CALCA
36chronic kidney failure10.0FGF23, PHEX, PTH1R
37primary hyperoxaluria10.0PTH1R, FGF23
38cholera10.0CALCA, PTH1R
39thyroid medullary carcinoma10.0CALCA, SSTR5
40carcinoid syndrome10.0CALCA, SSTR5
41insulinoma10.0CALCA, SSTR5
42pheochromocytoma10.0CALCA, SSTR5
43pseudoarthrosis10.0
44reflex sympathetic dystrophy10.0
45steatorrhea10.0
46adult syndrome10.0
47graves' disease10.0
48fibrous dysplasia10.0
49chondrosarcoma10.0
50galactosemia10.0

Graphical network of the top 20 diseases related to Osteomalacia:



Diseases related to osteomalacia

Symptoms for Osteomalacia

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Drugs & Therapeutics for Osteomalacia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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Sources:
34MalaCards, 15FMA
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MalaCards organs/tissues related to Osteomalacia:

34
Bone, Prostate, Kidney, Bone marrow, Testes, Liver, Thyroid, Endothelial, Breast, Lung, Colon

FMA organs/tissues related to Osteomalacia:

15
Bone

Animal Models for Osteomalacia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Osteomalacia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7PHEX, FGF23, PTH1R, DMP1
2MP:00053678.4FGF23, PHEX, CALCA, CYP24A1
3MP:00107687.9PTH1R, CALCA, PHEX, FGF23, CYP24A1
4MP:00053907.7FGF23, DMP1, CYP24A1, PTH1R, CALCA, PHEX
5MP:00053787.4CYP24A1, FGF23, PHEX, SSTR5, PTH1R
6MP:00053767.2PHEX, FGF23, SSTR5, PTH1R, CYP24A1, CALCA

Publications for Osteomalacia

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Sources:
53PubMed
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Articles related to Osteomalacia:

(show top 50)    (show all 570)
idTitleAuthorsYear
1
Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma. (23393166)
2013
2
Effective detection of the tumors causing osteomalacia using [Tc-99m]-HYNIC-octreotide (99mTc-HYNIC-TOC) whole body scan. (23721625)
2013
3
99mTc-HYNIC-TOC (99mTc-hydrazinonicotinyl-Tyr3-octreotide) scintigraphy identifying two separate causative tumors in a patient with tumor-induced osteomalacia (TIO). (23797229)
2013
4
Is gastrectomy-induced high turnover of bone with hyperosteoidosis and increase of mineralization a typical osteomalacia? (23776526)
2013
5
Tumor localization and biochemical response to cure in tumor-induced osteomalacia. (23362135)
2013
6
Radiologic case study. Osteomalacia. (23127434)
2012
7
Pathological femoral fractures due to osteomalacia associated with adefovir dipivoxil treatment for hepatitis B: a case report. (22906214)
2012
8
Osteomalacia as a complication of ileal neobladder. (23037491)
2012
9
Oncogenic osteomalacia from nasal cavity giant cell tumor. (22311466)
2012
10
Intracranial phosphaturic mesenchymal tumor, mixed connective tissue variant presenting without oncogenic osteomalacia. (23372968)
2012
11
Osteomalacia as a result of vitamin D deficiency. (22525844)
2012
12
Oncogenic osteomalacia due to phosphaturic mesenchymal tumor of the craniofacial sinuses. (22461817)
2011
13
Severe hypophosphatemic osteomalacia with Fanconi syndrome, renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis. (19252361)
2009
14
Bone pain due to fractures revealing osteomalacia related to tenofovir-induced proximal renal tubular dysfunction in a human immunodeficiency virus-infected patient. (19265350)
2009
15
Tumor-induced osteomalacia: a case report. (19578602)
2009
16
Disabling osteomalacia and myopathy as the only presenting features of celiac disease: a case report. (19128487)
2009
17
Somatostatin receptor expression in an epitheloid hemangioma causing oncogenic osteomalacia. (19789203)
2009
18
Spine surgeons survey on attitudes regarding osteoporosis and osteomalacia screening and treatment for fractures, fusion surgery, and pseudoarthrosis. (19560054)
2009
19
Sporadic adult-onset hypophosphatemic osteomalacia caused by excessive action of fibroblast growth factor 23. (18310982)
2008
20
Tumor-induced osteomalacia: a case of diagnostic dilemma. (17667438)
2007
21
Intestinal and hepatic CYP3A4 catalyze hydroxylation of 1alpha,25-dihydroxyvitamin D(3): implications for drug-induced osteomalacia. (16207822)
2006
22
Carbamazepine induced osteomalacia: letter to the editor. (15861996)
2005
23
Detection of a mesenchymal tumor responsible for hypophosphatemic osteomalacia using FDG-PET. (16198908)
2005
24
Polymorphisms at the ligand binding site of the vitamin D receptor gene and osteomalacia. (16403954)
2005
25
Oncogenic osteomalacia cured by removal of an organized hematoma. (16239206)
2005
26
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
27
Case 3. Oncogenic osteomalacia associated with hemangiopericytoma localized by octreotide scan. (15908675)
2005
28
Osteomalacia after Roux-en-Y gastric bypass. (15310536)
2004
29
Oncogenic hypophosphatemic osteomalacia associated with a nasal hemangiopericytoma. (17043447)
2003
30
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. (12890852)
2003
31
Vitamin D deficiency rickets and osteomalacia in Israel. (14509137)
2003
32
New insights into phosphate homeostasis: fibroblast growth factor 23 and frizzled-related protein-4 are phosphaturic factors derived from tumors associated with osteomalacia. (12187320)
2002
33
Bone and In-111 octreotide imaging in oncogenic osteomalacia: a case report. (12170004)
2002
34
Fibroblast growth factor (FGF)-23 and hypophosphatemic rickets/osteomalacia. (11873859)
2001
35
Lesson of the week: Danger of stereotyping in suspected osteomalacia. (11463688)
2001
36
Oncogenic osteomalacia. (11344782)
2000
37
MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. (10945470)
2000
38
Oncogenic osteomalacia secondary to a hemangiopericytoma of the hip: case report. (10047746)
1999
39
Extensive reflex sympathetic dystrophy syndrome of the lower limbs leading to a diagnosis of osteomalacia due to Fanconi syndrome. (9338939)
1997
40
Phosphatonin--a new phosphaturetic hormone? (lessons from tumour-induced osteomalacia and X-linked hypophosphataemia) (9027763)
1997
41
Acquired osteomalacia. (9174801)
1997
42
Osteomalacia and osteoporosis in a woman with ankylosing spondylitis. (9157786)
1996
43
Coexisting hyperthyroidism and primary hyperparathyroidism with vitamin D-deficient osteomalacia in a Vietnamese immigrant. (15251523)
1996
44
Hypophosphatemic osteomalacia in an elderly patient with generalized bone pain. (8737738)
1996
45
Are elderly Asians in Britain at a high risk of vitamin D deficiency and osteomalacia? (7793330)
1995
46
Oncogenic osteomalacia: imaging studies. (8387360)
1993
47
Osteomalacia secondary to renal tubular acidosis in a patient with primary SjAPgren's syndrome. (1764843)
1991
48
Oncogenic osteomalacia. (2983596)
1985
49
Osteomalacia complicating a blind loop syndrome from congenital megaesophagus-megaduodenum. (439112)
1979
50
Osteomalacia and renal glycosuria in adults; metabolic investigation of a case with particular reference to its relation to the Fanconi syndrome and to treatment. (14900385)
1952

Variations for Osteomalacia

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Expression for genes affiliated with Osteomalacia

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2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 31KEGG
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Compounds for genes affiliated with Osteomalacia

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Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB, 25HMDB
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Compounds related to Osteomalacia according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1hydroxyapatite469.7FGF23, DMP1
224,25-dihydroxyvitamin d3469.6CALCA, CYP24A1
3teriparatide46 1210.5PTH1R, CALCA
4alfacalcidol46 62 1211.5CYP24A1, CALCA
5111in-pentetreotide469.3SSTR5, CALCA
6proline469.2PTH1R, PHEX, FGF23
725-hydroxyvitamin d469.2FGF23, CYP24A1, CALCA
8ibmx46 62 3011.0CALCA, PTH1R
9forskolin46 52 1211.0CYP24A1, PTH1R, CALCA
10octreotide46 62 30 1211.9CALCA, SSTR5, FGF23
11pge2468.9CALCA, CYP24A1, PTH1R
12estrogen468.8PTH1R, CYP24A1, CALCA
13phosphorus468.8FGF23, PTH1R, CALCA, PHEX
14cyclic amp46 259.7CALCA, PTH1R, CYP24A1
151,25 dihydroxy vitamin d3468.3CYP24A1, PTH1R, CALCA, PHEX, FGF23
16calcitriol46 62 25 1211.2CYP24A1, PTH1R, CALCA, PHEX, FGF23
17vitamin d467.9PTH1R, CALCA, PHEX, FGF23, DMP1, CYP24A1
18calcium46 52 25 1210.0FGF23, PHEX, CALCA, SSTR5, PTH1R, CYP24A1

GO Terms for genes affiliated with Osteomalacia

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17Gene Ontology
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Biological processes related to Osteomalacia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1vitamin D catabolic processGO:0423699.7CYP24A1, FGF23
2bone mineralizationGO:0302829.6PTH1R, PHEX
3skeletal system developmentGO:0015019.5PTH1R, PHEX
4adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.4CALCA, PTH1R
5positive regulation of cytosolic calcium ion concentrationGO:0072049.2PTH1R, CALCA
6G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messengerGO:0071879.1SSTR5, PTH1R
7agingGO:0075689.0CALCA, PTH1R

Products for genes affiliated with Osteomalacia

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Sources for Osteomalacia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet