MCID: OST011
MIFTS: 56

Osteomalacia malady

Bone category

Summaries for Osteomalacia

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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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 osteoporosis. 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 marrow and whole blood, and related mouse phenotypes are limbs/digits/tail and skeleton.

Wikipedia:64 Osteomalacia is the softening of the bones caused by defective bone mineralization secondary to... more...

Aliases & Classifications for Osteomalacia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 27ICD9CM, 40NCIt, 35MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

osteomalacia 8 43 10 45 61


External Ids:

Disease Ontology8 DOID:10573
ICD9CM27 268.2
NCIt40 C26838
MeSH35 D010018

Related Diseases for Osteomalacia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 314)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.9BGLAP, NR1I2, CYP27B1, PTH, ALPP
2osteoporosis30.5SLPI, PTH1R, PTH, ALPL, ALPP, FGF23
3hypophosphatemia30.4BGLAP, CALCA, SFRP4, PHEX, DMP1, MEPE
4primary hyperparathyroidism30.4PTH, ALPP, PTH1R, FGF23, CYP27B1, BGLAP
5osteitis fibrosa30.2ALPP, ALPL, PTH, BGLAP
6renal osteodystrophy30.2SLPI, PTH, ALPL, ALPP, FGF23, BGLAP
7hypophosphatasia30.1SLPI, ALPL, ALPP
8uremia30.0PTH
9primary biliary cirrhosis30.0BGLAP, NR1I2, SLPI, ALPP
10graves' disease29.9BGLAP, CYP27B1, FGF23
11hypophosphatemic rickets, autosomal dominant29.9SFRP4, PHEX, MEPE, FGF23
12fibrous dysplasia29.9BGLAP, FGF23, ALPL, ALPP
13x-linked hypophosphatemia29.9SFRP4, PHEX, DMP1, MEPE, CYP24A1, CYP27B1
14hypoparathyroidism29.9BGLAP, CALCA, FGF23, PTH1R, PTH, ALPP
15adenoma29.9PTH, SSTR3, SSTR1, SSTR2, SSTR5, CALCA
16paraneoplastic syndromes29.7FGF23, PHEX
17mccune albright syndrome29.7FGF23
18metabolic acidosis29.7PTH, BGLAP
19osteonecrosis29.7ALPP, ALPL, BGLAP
20adenocarcinoma29.7SSTR2, SSTR1, CYP27B1, FGF7
21osteoporosis, postmenopausal29.7BGLAP, CALCA, CYP27B1, PTH
22hypercalcemia29.6FGF23, SLPI, PTH1R, PTH, ALPL, ALPP
23oncogenic osteomalacia10.9
24osteomalacia, tumor-induced10.7
25fanconi syndrome10.5
26axial osteomalacia10.4
27adult syndrome10.4
28renal tubular acidosis10.3
29n syndrome10.2
30neurofibromatosis10.2
31primary renal tubular acidosis10.2
32celiac disease10.1
33osteoblastoma10.0
34ankylosing spondylitis10.0
35hepatitis a10.0
36arthritis10.0
37spondylitis10.0
38thyroiditis10.0CALCA
39hepatitis10.0ALPP
40peritonitis10.0SLPI
41infectious mononucleosis10.0FGF7
42nephrolithiasis10.0PTH, FGF23
43giant cell tumor10.0CALCA
44craniosynostosis10.0ALPL
45gingivitis10.0ALPP
46hyperostosis10.0BGLAP, FGF23
47growth hormone deficiency10.0BGLAP
48hypervitaminosis d10.0FGF23, CYP27B1
49pancreatitis10.0ALPP, ALPL
50dysgerminoma10.0ALPP

Graphical network of the top 20 diseases related to Osteomalacia:



Diseases related to osteomalacia

Clinical Features for Osteomalacia

Drugs & Therapeutics for Osteomalacia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Osteomalacia

Sources:
14FMA, 33MalaCards
See all sources

MalaCards organs/tissues related to Osteomalacia:

33
Bone marrow, Whole blood, Skeletal muscle, Small intestine, Colon, Kidney, Liver, Lung, Thyroid, Breast, Prostate, B cells, Endothelial

FMA organs/tissues related to Osteomalacia:

14
Bone

Animal Models for Osteomalacia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Osteomalacia

Sources:
51PubMed
See all sources

Articles related to Osteomalacia:

(show top 50)    (show all 576)
idTitleAuthorsYear
1
Histopathological analysis for osteomalacia and tubulopathy in itai-itai disease. (24418713)
2014
2
Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma. (23393166)
2013
3
Visual vignette. Carbamazapine-induced osteomalacia. (23757623)
2013
4
Clinical presentation and etiology of osteomalacia/rickets in adolescents. (24029258)
2013
5
Osteomalacia induced peripheral neuropathy after obesity reduction surgery. (24339611)
2013
6
Proximal femoral changes related to bisphosphonate use and looser zones in hypophosphatemic osteomalacia: dual-energy X-ray absorptiometry findings. (23473957)
2013
7
Osteomalacia as a complication of ileal neobladder. (23037491)
2012
8
Tumor-induced osteomalacia caused by primary fibroblast growth factor 23 secreting neoplasm in axial skeleton: a case report. (23346426)
2012
9
Perioperative concerns in patients with tumor-induced osteomalacia for surgical excision of tumor. (23396031)
2012
10
Osteomalacia: a case series of patients with atypical clinical orthopaedic presentations. (21135425)
2010
11
Clinical utility of systemic venous sampling of FGF23 for identifying tumours responsible for tumour-induced osteomalacia. (20698924)
2010
12
Development of osteomalacia in a post-liver transplant patient receiving adefovir dipivoxil. (21191520)
2010
13
Hypophosphataemic osteomalacia in neurofibromatosis. (20166371)
2009
14
Iron polymaltose-induced FGF23 elevation complicated by hypophosphataemic osteomalacia. (19151167)
2009
15
Oncogenic osteomalacia: two case reports with surprisingly different outcomes. (19125258)
2009
16
Oncogenic osteomalacia associated with phosphaturic mesenchymal tumour, mixed connective tissue type of the knee. (20200786)
2009
17
Clinical impact of somatostatin receptor scintigraphy in the management of tumor-induced osteomalacia. (18936605)
2008
18
FGF23-related hypophosphatemic rickets/osteomalacia]. (17906402)
2007
19
Severe kyphoscoliosis associated with osteomalacia. (16934733)
2006
20
Oncogenic osteomalacia in a case with a maxillary sinus mesenchymal tumor. (16969146)
2006
21
Detection of a mesenchymal tumor responsible for hypophosphatemic osteomalacia using FDG-PET. (16198908)
2005
22
Polymorphisms at the ligand binding site of the vitamin D receptor gene and osteomalacia. (16403954)
2005
23
Severe osteomalacia in a patient with idiopathic chronic pancreatitis. (16374983)
2005
24
Acquired hypophosphatemic osteomalacia associated with multiple myeloma. (16112595)
2005
25
Atypical axial osteomalacia: report of a HLA-B27 negative elderly female patient without features of sacroiliitis. (16173260)
2005
26
Oncogenic osteomalacia: the role of the phosphatonins. Diagnostic usefulness of the Fibroblast Growth Factor 23 measurement in one patient]. (15777586)
2005
27
Biochemical recovery time scales in elderly patients with osteomalacia. (15520146)
2004
28
Oncogenic hypophosphatemic osteomalacia associated with a nasal hemangiopericytoma. (17043447)
2003
29
Clinical case seminar: Fibroblast growth factor 23: a new clinical marker for oncogenic osteomalacia. (12970268)
2003
30
Osteomalacia and sacroiliitis. (12951319)
2003
31
Nutritional rickets and osteomalacia in school children and adolescents. (11938395)
2002
32
Pentavalent technetium-99m DMSA uptake in pseudofractures of osteomalacia. (11139060)
2001
33
A case of osteomalacia mimicking ankylosing spondylitis. (11563583)
2001
34
Osteomalacia. (14639317)
2001
35
A case of neuroendocrine oncogenic osteomalacia associated with a PHEX and fibroblast growth factor-23 expressing sinusidal malignant schwannoma. (11595624)
2001
36
"Osteoporosis," "osteomalacia," and "osteopenia": proper terminology in childhood. (10882288)
2000
37
Reflex sympathetic dystrophy in hypophosphataemic osteomalacia with femoral neck fracture: a case report. (10817779)
2000
38
Oncogenic osteomalacia presenting as bilateral stress fractures of the tibia. (10068075)
1999
39
Tumor-induced osteomalacia and symptomatic looser zones secondary to mesenchymal chondrosarcoma. (10362094)
1999
40
An interesting case of osteomalacia due to antacid use associated with stainable bone aluminum in a patient with normal renal function. (9626411)
1998
41
Oncogenic osteomalacia: case report and review of head and neck associated tumours. (9659507)
1998
42
Extensive reflex sympathetic dystrophy syndrome of the lower limbs leading to a diagnosis of osteomalacia due to Fanconi syndrome. (9338939)
1997
43
Genetic rickets and osteomalacia. (9174800)
1997
44
Oncogenic osteomalacia: lesion detection by MR skeletal survey. (8686600)
1996
45
Historical overview of rickets, osteomalacia, and vitamin D. (7606422)
1995
46
A neuroendocrine cause of oncogenic osteomalacia. (1378890)
1992
47
Vitamin D metabolites and osteomalacia in the human Fanconi syndrome. (3991574)
1985
48
Oncogenic osteomalacia and inappropriate antidiuretic hormone secretion due to oat-cell carcinoma. (6093661)
1984
49
Benign osteoblastoma as a cause of osteomalacia. A report of two cases. (893505)
1977
50
Hypophosphatemic osteomalacia with hyperglycinuria. (6015585)
1967

Genetic Variations for Osteomalacia

Expression for genes affiliated with Osteomalacia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore
See all sources

Compounds for genes affiliated with Osteomalacia

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Osteomalacia according to GeneCards/GeneDecks:

(show top 50)    (show all 134)
idCompoundScoreTop Affiliating Genes
1pge24510.8PTH1R
2som-2302910.6SSTR3, SSTR5, SSTR2, SSTR1
3srif-142910.5SSTR3, SSTR2, SSTR5, SSTR1
4srif-282910.5SSTR3, SSTR1, SSTR2, SSTR5
5pasireotide45 1111.5SSTR5, SSTR2, SSTR1, SSTR3
6[d-tyr8]cyn 1548062910.5SSTR5, SSTR2, SSTR1, SSTR3
7[125i]tyr10-cst142910.5SSTR1, SSTR5, SSTR2, SSTR3
8[125i]ltt-srif-282910.5SSTR3, SSTR1, SSTR5, SSTR2
9bim 230522910.5SSTR2, SSTR5, SSTR1, SSTR3
10cgp 239962910.5SSTR3, SSTR1, SSTR2, SSTR5
11deoxypyridinoline4510.5PTH, CALCA, BGLAP
12ke 1082910.5SSTR3, SSTR1, SSTR2, SSTR5
13bim 236272910.5SSTR5, SSTR1, SSTR3, SSTR2
14ipriflavone4510.5ALPP, BGLAP, SLPI, CALCA
15l-362,8552910.5SSTR1, SSTR3, SSTR5, SSTR2
16[l-tyr8]cyn 1548062910.5SSTR5, SSTR2, SSTR1, SSTR3
17bim 234542910.5SSTR5, SSTR2, SSTR1, SSTR3
18cst-172910.5SSTR3, SSTR1, SSTR2, SSTR5
19[125i]cgp 239962910.5SSTR3, SSTR1, SSTR2, SSTR5
20(1r,1s,3r/1r,1r,3s)-l-054,2646010.5SSTR2, SSTR1, SSTR5, SSTR3
21alfacalcidol45 60 1112.5SLPI, CYP27B1, CYP24A1, CALCA, BGLAP
22cyclosomatostatin6010.5SSTR5, SSTR2, SSTR1, SSTR3
2324,25-dihydroxyvitamin d34510.5BGLAP, CALCA, ALPP, CYP27B1, CYP24A1
24cyn 1548066010.5SSTR1, SSTR5, SSTR3, SSTR2
25111in-pentetreotide4510.5SSTR5, CALCA, SSTR2, SSTR1
26calcium carbonate4510.5CALCA, PTH, BGLAP
27cst-142910.4SSTR3, SSTR1, SSTR2, SSTR5
28vitamin k24510.4SLPI, CALCA, BGLAP, ALPP, NR1I2
29somatostatin60 2411.4SSTR2, SSTR5, SSTR1, SSTR3
30etidronate4510.4ALPP, SLPI, BGLAP, CALCA
31octreotide45 60 29 1113.3CALCA, FGF23, SSTR3, SSTR1, SSTR5, SSTR2
32alizarin4510.3SLPI, ALPP, ALPL, BGLAP
33hydroxyapatite4510.3DMP1, BGLAP, FGF23, SLPI, ALPP, ALPL
34alendronate45 50 1112.3SLPI, ALPP, PTH, CALCA, BGLAP
35tartrate4510.2SLPI, CALCA, BGLAP, ALPP
36[111in]dota-boc-ate2910.2SSTR3, SSTR2, SSTR5
37lanreotide45 2911.2SSTR3, SSTR1, SSTR2, SSTR5
38phosphorus4510.2ALPP, PTH, PTH1R, SLPI, FGF23, CYP27B1
3925-hydroxyvitamin d4510.1CALCA, BGLAP, SFRP4, CYP24A1, ALPP, PTH
40hydrocortisone45 2 60 1113.1CALCA, BGLAP, NR1I2, FGF7, SLPI, ALPP
41hydroxyproline45 11 2412.1SLPI, BGLAP, CALCA, PTH, ALPP
42pamidronate45 50 1112.1ALPP, CALCA, PTH, BGLAP
431,25 dihydroxy vitamin d34510.0FGF23, CALCA, BGLAP, PHEX, NR1I2, CYP24A1
44tamoxifen45 50 29 1113.0NR1I2, BGLAP, SSTR2, FGF7, SLPI, PTH
45risedronate45 60 50 29 1114.0ALPP, SLPI, BGLAP, CALCA
46thymidine45 2411.0SSTR2, FGF7, SLPI, PTH1R, SSTR5, ALPP
47bim 23056299.9SSTR3, SSTR5, SSTR2
48calcitriol45 60 11 2412.8PTH, SFRP4, PHEX, MEPE, NR1I2, CYP24A1
49vitamin d459.8ALPP, ALPL, PTH, PTH1R, SLPI, FGF23
50calcium45 50 11 2412.4ALPP, DMP1, PHEX, CALCA, BGLAP, NR1I2

GO Terms for genes affiliated with Osteomalacia

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet