MCID: OST011
MIFTS: 53

Osteomalacia malady

Rare diseases, Bone diseases categories
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Summaries for Osteomalacia

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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 based summary: Osteomalacia is related to hyperparathyroidism and rickets. 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 8 42 10 44 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:10573
ICD9CM27 268.2
MeSH34 D010018
NCIt39 C26838

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 272)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism30.7CALCA, PHEX, FGF23
2rickets30.7DMP1, CYP24A1, PHEX, FGF23
3paraneoplastic syndromes30.5PHEX, FGF23
4renal osteodystrophy30.5CALCA, FGF23
5x-linked hypophosphatemia30.4DMP1, PHEX, FGF23
6primary hyperparathyroidism30.3FGF23, CALCA, PTH1R
7osteoporosis30.2FGF23, CALCA, PTH1R, CYP24A1
8hypophosphatemia30.2DMP1, CALCA, PHEX, FGF23
9hypophosphatemic rickets, autosomal dominant30.0FGF23, PHEX
10giant cell tumor29.9CALCA, FGF23
11pseudohypoparathyroidism29.9CALCA, PTH1R
12hypoparathyroidism29.8PTH1R, CALCA, FGF23
13hypercalcemia29.6FGF23, CALCA, PTH1R
14oncogenic osteomalacia10.9
15fanconi syndrome10.5
16axial osteomalacia10.4
17renal tubular acidosis10.4
18hemangiopericytoma10.3
19hepatitis10.2
20neurofibromatosis10.2
21osteitis fibrosa10.2
22prostatitis10.2
23celiac disease10.1
24hepatitis b10.1
25prostate cancer10.1
26hypophosphatasia10.1
27spondylitis10.1
28secondary hyperparathyroidism of renal origin10.1CALCA, FGF23
29ankylosing spondylitis10.1
30arthritis10.1
31hemangioma10.1
32primary biliary cirrhosis10.1
33osteoblastoma10.1
34myeloma10.1
35myopathy10.1
36uremia10.1
37multiple myeloma10.0
38obesity10.0
39pseudoarthrosis10.0
40rheumatoid arthritis10.0
41gaucher's disease10.0
42reflex sympathetic dystrophy10.0
43sjogren's syndrome10.0
44adult syndrome10.0
45graves' disease10.0
46fibrous dysplasia10.0
47steatorrhea10.0
48chondrosarcoma10.0
49dermatitis10.0
50diarrhea10.0

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:

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Genetic Tests for Osteomalacia

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Anatomical Context for Osteomalacia

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MalaCards organs/tissues related to Osteomalacia:

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

FMA organs/tissues related to Osteomalacia:

14
Bone

Animal Models for Osteomalacia or affiliated genes

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MGI Mouse Phenotypes related to Osteomalacia:

36
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 594)
idTitleAuthorsYear
1
Oncogenic osteomalacia presenting as a crippling illness in a young man. (25263679)
2014
2
Tumor-Induced Osteomalacia: Increased Level of FGF-23 in a Patient with a Phosphaturic Mesenchymal Tumor at the Tibia Expressing Periostin. (25221676)
2014
3
Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma. (23393166)
2013
4
Effective detection of the tumors causing osteomalacia using [Tc-99m]-HYNIC-octreotide (99mTc-HYNIC-TOC) whole body scan. (23721625)
2013
5
99mTc-HYNIC-TOC (99mTc-hydrazinonicotinyl-Tyr3-octreotide) scintigraphy identifying two separate causative tumors in a patient with tumor-induced osteomalacia (TIO). (23797229)
2013
6
Is gastrectomy-induced high turnover of bone with hyperosteoidosis and increase of mineralization a typical osteomalacia? (23776526)
2013
7
Radiologic case study. Osteomalacia. (23127434)
2012
8
Pathological femoral fractures due to osteomalacia associated with adefovir dipivoxil treatment for hepatitis B: a case report. (22906214)
2012
9
Osteomalacia as a complication of ileal neobladder. (23037491)
2012
10
Oncogenic osteomalacia from nasal cavity giant cell tumor. (22311466)
2012
11
Intracranial phosphaturic mesenchymal tumor, mixed connective tissue variant presenting without oncogenic osteomalacia. (23372968)
2012
12
Osteomalacia as a result of vitamin D deficiency. (22525844)
2012
13
Oncogenic osteomalacia due to phosphaturic mesenchymal tumor of the craniofacial sinuses. (22461817)
2011
14
Severe hypophosphatemic osteomalacia with Fanconi syndrome, renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis. (19252361)
2009
15
Bone pain due to fractures revealing osteomalacia related to tenofovir-induced proximal renal tubular dysfunction in a human immunodeficiency virus-infected patient. (19265350)
2009
16
Tumor-induced osteomalacia: a case report. (19578602)
2009
17
Disabling osteomalacia and myopathy as the only presenting features of celiac disease: a case report. (19128487)
2009
18
Somatostatin receptor expression in an epitheloid hemangioma causing oncogenic osteomalacia. (19789203)
2009
19
Spine surgeons survey on attitudes regarding osteoporosis and osteomalacia screening and treatment for fractures, fusion surgery, and pseudoarthrosis. (19560054)
2009
20
Sporadic adult-onset hypophosphatemic osteomalacia caused by excessive action of fibroblast growth factor 23. (18310982)
2008
21
Tumor-induced osteomalacia: a case of diagnostic dilemma. (17667438)
2007
22
Intestinal and hepatic CYP3A4 catalyze hydroxylation of 1alpha,25-dihydroxyvitamin D(3): implications for drug-induced osteomalacia. (16207822)
2006
23
Carbamazepine induced osteomalacia: letter to the editor. (15861996)
2005
24
Detection of a mesenchymal tumor responsible for hypophosphatemic osteomalacia using FDG-PET. (16198908)
2005
25
Polymorphisms at the ligand binding site of the vitamin D receptor gene and osteomalacia. (16403954)
2005
26
Oncogenic osteomalacia cured by removal of an organized hematoma. (16239206)
2005
27
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
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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Expression patterns in normal tissues for genes affiliated with Osteomalacia

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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
1hydroxyapatite449.7FGF23, DMP1
224,25-dihydroxyvitamin d3449.6CYP24A1, CALCA
3teriparatide44 1110.5PTH1R, CALCA
4alfacalcidol44 61 1111.5CYP24A1, CALCA
5111in-pentetreotide449.3CALCA, SSTR5
6proline449.2PTH1R, PHEX, FGF23
725-hydroxyvitamin d449.2FGF23, CALCA, CYP24A1
8ibmx44 61 2811.0CALCA, PTH1R
9forskolin44 50 1111.0CALCA, PTH1R, CYP24A1
10octreotide44 61 28 1111.9SSTR5, CALCA, FGF23
11pge2448.9CALCA, PTH1R, CYP24A1
12estrogen448.8CALCA, PTH1R, CYP24A1
13phosphorus448.8FGF23, PHEX, CALCA, PTH1R
14cyclic amp44 249.7CYP24A1, PTH1R, CALCA
151,25 dihydroxy vitamin d3448.3CYP24A1, PTH1R, CALCA, PHEX, FGF23
16calcitriol44 61 24 1111.2CYP24A1, PTH1R, CALCA, PHEX, FGF23
17vitamin d447.9FGF23, PHEX, CALCA, PTH1R, CYP24A1, DMP1
18calcium44 50 24 1110.0DMP1, 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:0423699.7FGF23, CYP24A1
2bone mineralizationGO:0302829.6PHEX, PTH1R
3skeletal system developmentGO:0015019.5PHEX, PTH1R
4adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.4CALCA, PTH1R
5positive regulation of cytosolic calcium ion concentrationGO:0072049.2CALCA, PTH1R
6G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messengerGO:0071879.1PTH1R, SSTR5
7agingGO:0075689.0CALCA, PTH1R

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet