MCID: OST011
MIFTS: 51

Osteomalacia malady

Rare diseases, Bone diseases categories

Summaries for Osteomalacia

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Disease Ontology:10 A bone remodeling disease that has material basis in a vitamin d deficiency which results in softening located in bone.

MalaCards based summary: 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:65 Osteomalacia is the softening of the bones caused by defective bone mineralization secondary to... more...

Aliases & Classifications for Osteomalacia

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Osteomalacia, Aliases & Descriptions:

Name: Osteomalacia 10 43 12 45 62


Classifications:

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


External Ids:

Disease Ontology10 DOID:10573
MeSH35 D010018
NCIt40 C26838
ICD9CM29 268.2

Related Diseases for Osteomalacia

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

(show top 50)    (show all 263)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.9DMP1, FGF23, PHEX, CYP24A1
2hyperparathyroidism30.8PHEX, CALCA, FGF23
3osteoporosis30.6FGF23, CYP24A1, CALCA, PTH1R
4hypophosphatemia30.5PHEX, DMP1, CALCA, FGF23
5primary hyperparathyroidism30.4PTH1R, CALCA, FGF23
6renal osteodystrophy30.3FGF23, CALCA
7paraneoplastic syndromes30.2FGF23, PHEX
8hypophosphatemic rickets, autosomal dominant30.0PHEX, FGF23
9hypophosphatemic rickets, x-linked dominant30.0DMP1, PHEX, FGF23
10hypoparathyroidism29.9FGF23, PTH1R, CALCA
11giant cell tumor29.8CALCA, FGF23
12pseudohypoparathyroidism29.7CALCA, PTH1R
13hypercalcemia29.7FGF23, PTH1R, CALCA
14primary hyperoxaluria29.7PTH1R, FGF23
15oncogenic osteomalacia10.9
16fanconi syndrome10.5
17axial osteomalacia10.5
18hypophosphatemic rickets10.4
19renal tubular acidosis10.4
20hemangiopericytoma10.3
21neurofibromatosis10.2
22hepatitis10.2
23osteitis fibrosa10.2
24prostatitis10.2
25celiac disease10.2
26prostate cancer10.1
27hepatitis b10.1
28primary biliary cirrhosis10.1
29hypophosphatasia10.1
30myeloma10.1
31spondylitis10.1
32multiple myeloma10.1
33arthritis10.1
34hemangioma10.1
35osteoblastoma10.1
36myopathy10.1
37uremia10.1
38secondary hyperparathyroidism of renal origin10.0FGF23, CALCA
39chronic kidney failure10.0FGF23, PHEX, PTH1R
40cholera10.0CALCA, PTH1R
41medullary thyroid carcinoma, familial10.0CALCA, SSTR5
42rheumatoid arthritis10.0
43hyperglycinuria10.0
44adult syndrome10.0
45chondrosarcoma10.0
46fanconi renotubular syndrome 110.0
47obesity10.0
48hypophosphatemic rickets with hypercalciuria10.0
49anorexia nervosa10.0
50osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.0

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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Drug clinical trials:

Search ClinicalTrials for Osteomalacia

Search NIH Clinical Center for Osteomalacia

Genetic Tests for Osteomalacia

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Anatomical Context for Osteomalacia

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MalaCards organs/tissues related to Osteomalacia:

33
Bone, Prostate, Kidney, Bone marrow, Liver, Thyroid, Testes, Brain, Colon, Lung, Breast

FMA organs/tissues related to Osteomalacia:

16
Bone

Animal Models for Osteomalacia or affiliated genes

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MGI Mouse Phenotypes related to Osteomalacia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7DMP1, PTH1R, PHEX, FGF23
2MP:00053678.4FGF23, PHEX, CALCA, CYP24A1
3MP:00107687.9FGF23, PHEX, CALCA, PTH1R, CYP24A1
4MP:00053907.7FGF23, PHEX, CALCA, PTH1R, CYP24A1, DMP1
5MP:00053787.4CYP24A1, PTH1R, SSTR5, PHEX, FGF23
6MP:00053767.2CYP24A1, PTH1R, SSTR5, CALCA, PHEX, FGF23

Publications for Osteomalacia

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Articles related to Osteomalacia:

(show top 50)    (show all 613)
idTitleAuthorsYear
1
Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis: Case report and literature review. (25709169)
2015
2
Oncogenic osteomalacia caused by an occult paranasal sinus tumor. (25682388)
2015
3
Oncogenic osteomalacia presenting as a crippling illness in a young man. (25263679)
2014
4
Periodontitis associated with osteomalacia. (25425827)
2014
5
Tumor-Induced Osteomalacia: Increased Level of FGF-23 in a Patient with a Phosphaturic Mesenchymal Tumor at the Tibia Expressing Periostin. (25221676)
2014
6
Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma. (23393166)
2013
7
Effective detection of the tumors causing osteomalacia using [Tc-99m]-HYNIC-octreotide (99mTc-HYNIC-TOC) whole body scan. (23721625)
2013
8
99mTc-HYNIC-TOC (99mTc-hydrazinonicotinyl-Tyr3-octreotide) scintigraphy identifying two separate causative tumors in a patient with tumor-induced osteomalacia (TIO). (23797229)
2013
9
Is gastrectomy-induced high turnover of bone with hyperosteoidosis and increase of mineralization a typical osteomalacia? (23776526)
2013
10
Radiologic case study. Osteomalacia. (23127434)
2012
11
Pathological femoral fractures due to osteomalacia associated with adefovir dipivoxil treatment for hepatitis B: a case report. (22906214)
2012
12
Osteomalacia as a complication of ileal neobladder. (23037491)
2012
13
Oncogenic osteomalacia from nasal cavity giant cell tumor. (22311466)
2012
14
Intracranial phosphaturic mesenchymal tumor, mixed connective tissue variant presenting without oncogenic osteomalacia. (23372968)
2012
15
Osteomalacia as a result of vitamin D deficiency. (22525844)
2012
16
Oncogenic osteomalacia due to phosphaturic mesenchymal tumor of the craniofacial sinuses. (22461817)
2011
17
Severe hypophosphatemic osteomalacia with Fanconi syndrome, renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis. (19252361)
2009
18
Bone pain due to fractures revealing osteomalacia related to tenofovir-induced proximal renal tubular dysfunction in a human immunodeficiency virus-infected patient. (19265350)
2009
19
Tumor-induced osteomalacia: a case report. (19578602)
2009
20
Disabling osteomalacia and myopathy as the only presenting features of celiac disease: a case report. (19128487)
2009
21
Somatostatin receptor expression in an epitheloid hemangioma causing oncogenic osteomalacia. (19789203)
2009
22
Spine surgeons survey on attitudes regarding osteoporosis and osteomalacia screening and treatment for fractures, fusion surgery, and pseudoarthrosis. (19560054)
2009
23
Sporadic adult-onset hypophosphatemic osteomalacia caused by excessive action of fibroblast growth factor 23. (18310982)
2008
24
Tumor-induced osteomalacia: a case of diagnostic dilemma. (17667438)
2007
25
Intestinal and hepatic CYP3A4 catalyze hydroxylation of 1alpha,25-dihydroxyvitamin D(3): implications for drug-induced osteomalacia. (16207822)
2006
26
Carbamazepine induced osteomalacia: letter to the editor. (15861996)
2005
27
Detection of a mesenchymal tumor responsible for hypophosphatemic osteomalacia using FDG-PET. (16198908)
2005
28
Polymorphisms at the ligand binding site of the vitamin D receptor gene and osteomalacia. (16403954)
2005
29
Oncogenic osteomalacia cured by removal of an organized hematoma. (16239206)
2005
30
Osteomalacia after Roux-en-Y gastric bypass. (15310536)
2004
31
Oncogenic hypophosphatemic osteomalacia associated with a nasal hemangiopericytoma. (17043447)
2003
32
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. (12890852)
2003
33
Vitamin D deficiency rickets and osteomalacia in Israel. (14509137)
2003
34
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
35
Bone and In-111 octreotide imaging in oncogenic osteomalacia: a case report. (12170004)
2002
36
Fibroblast growth factor (FGF)-23 and hypophosphatemic rickets/osteomalacia. (11873859)
2001
37
Lesson of the week: Danger of stereotyping in suspected osteomalacia. (11463688)
2001
38
MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. (10945470)
2000
39
Oncogenic osteomalacia secondary to a hemangiopericytoma of the hip: case report. (10047746)
1999
40
Extensive reflex sympathetic dystrophy syndrome of the lower limbs leading to a diagnosis of osteomalacia due to Fanconi syndrome. (9338939)
1997
41
Phosphatonin--a new phosphaturetic hormone? (lessons from tumour-induced osteomalacia and X-linked hypophosphataemia) (9027763)
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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Search GEO for disease gene expression data for Osteomalacia.

Pathways for genes affiliated with Osteomalacia

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Compounds for genes affiliated with Osteomalacia

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Compounds related to Osteomalacia according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1hydroxyapatite459.7FGF23, DMP1
224,25-dihydroxyvitamin d3459.6CYP24A1, CALCA
3teriparatide45 1310.5PTH1R, CALCA
4alfacalcidol45 61 1311.5CYP24A1, CALCA
5111in-pentetreotide459.3CALCA, SSTR5
6proline459.2PTH1R, PHEX, FGF23
725-hydroxyvitamin d459.2FGF23, CALCA, CYP24A1
8ibmx45 61 3011.0CALCA, PTH1R
9forskolin45 51 1311.0CALCA, PTH1R, CYP24A1
10octreotide45 61 30 1311.9SSTR5, CALCA, FGF23
11pge2458.9CALCA, PTH1R, CYP24A1
12estrogen458.8CALCA, PTH1R, CYP24A1
13phosphorus458.8FGF23, PHEX, CALCA, PTH1R
14cyclic amp45 269.7CYP24A1, PTH1R, CALCA
151,25 dihydroxy vitamin d3458.3CYP24A1, PTH1R, CALCA, PHEX, FGF23
16calcitriol45 61 26 1311.2CYP24A1, PTH1R, CALCA, PHEX, FGF23
17vitamin d457.9FGF23, PHEX, CALCA, PTH1R, CYP24A1, DMP1
18calcium45 51 26 1310.0DMP1, CYP24A1, PTH1R, SSTR5, CALCA, PHEX

GO Terms for genes affiliated with Osteomalacia

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Biological processes related to Osteomalacia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1vitamin D catabolic processGO:00423699.7FGF23, CYP24A1
2bone mineralizationGO:00302829.6PHEX, PTH1R
3skeletal system developmentGO:00015019.5PHEX, PTH1R
4adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.4CALCA, PTH1R
5positive regulation of cytosolic calcium ion concentrationGO:00072049.2CALCA, PTH1R
6G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messengerGO:00071879.1PTH1R, SSTR5
7agingGO:00075689.0CALCA, PTH1R

Products for genes affiliated with Osteomalacia

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Sources for Osteomalacia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet