MCID: ONC003
MIFTS: 54

Oncogenic Osteomalacia malady

Rare diseases, Bone diseases, Metabolic diseases, Endocrine diseases, Cardiovascular diseases, Cancer diseases categories

Summaries for Oncogenic Osteomalacia

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Wikipedia:65 Tumor-induced osteomalacia, also known as oncogenic hypophosphatemic osteomalacia or oncogenic... more...

MalaCards based summary: Oncogenic Osteomalacia, also known as tumor-induced osteomalacia, is related to osteomalacia and hypophosphatemia. An important gene associated with Oncogenic Osteomalacia is MRPL44 (mitochondrial ribosomal protein L44), and among its related pathways are Development Hedgehog and PTH signaling pathways in bone and cartilage development and Signaling by FGFR1 mutants. The compounds bim 23030 and boc-ate have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and colon, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Aliases & Classifications for Oncogenic Osteomalacia

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Sources:
43NIH Rare Diseases, 49Orphanet, 62UMLS, 28ICD10 via Orphanet
See all sources

Oncogenic Osteomalacia, Aliases & Descriptions:

Name: Oncogenic Osteomalacia 43 49 62
Tumor-Induced Osteomalacia 43 49 62
Infantile Hypertrophic Cardiomyopathy Due to Mrpl44 Deficiency 43 49
Combined Oxidative Phosphorylation Defect Type 16 43 49
Coxpd16 43 49
 
Oncogenic Hypophosphatemic Osteomalacia 49
Tio 49
Oom 43
Oo 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
infantile hypertrophic cardiomyopathy due to mrpl44 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
tumor-induced osteomalacia:
Inheritance: Not applicable; Age of onset: All ages


External Ids:

Orphanet49 352563, 352540
ICD10 via Orphanet28 I42.2, M83.8

Related Diseases for Oncogenic Osteomalacia

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

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1osteomalacia31.6FGF23, DMP1, PHEX, CALCA, MEPE, PTH1R
2hypophosphatemia30.6DMP1, SFRP4, PTH, MEPE, CALCA, PHEX
3paraneoplastic syndromes30.6FGF23, PHEX
4rickets30.6DMP1, SFRP4, PTH, MEPE, PHEX, FGF23
5hyperparathyroidism30.6PTH, CALCA, PHEX, FGF23
6prostate cancer30.3SFRP4, PTH1R, SSTR5, SSTR1, SSTR2, FGF7
7giant cell tumor30.2CALCA, FGF23
8primary hyperparathyroidism30.2FGF23, CALCA, PTH1R, PTH
9hemangiopericytoma10.5
10prostatitis10.4
11hemangioma10.3
12fanconi syndrome10.3
13neurofibromatosis10.3
14avascular necrosis of the femoral head10.1
15fibrous dysplasia10.1
16myopathy10.1
17uremia10.1
18chondrosarcoma10.1
19renal cell carcinoma10.1
20sinusitis10.1
21fibroma10.1
22adenocarcinoma10.1
23cervicitis10.1
24colon adenocarcinoma10.1
25meningitis10.1
26mesenchymal chondrosarcoma10.1
27plasmacytoma10.1
28syndrome of inappropriate antidiuretic hormone10.1
29myopericytoma10.1
30chondromyxoid fibroma10.1
31combined oxidative phosphorylation deficiency 110.1
32adenoiditis10.1
33overuse syndrome10.1
34hypervitaminosis d10.1FGF23
35dentin dysplasia10.1MEPE
36osteitis fibrosa10.0PTH
37dentinogenesis imperfecta10.0MEPE, DMP1
38calcinosis10.0FGF23, PTH
39glucagonoma10.0SSTR2, SSTR5
40hyperphosphatemia10.0FGF23, PTH, SFRP4
41gastrinoma10.0SSTR5, SSTR1, SSTR2
42pseudohypoparathyroidism, type ib10.0PTH1R, PTH
43acromegaly10.0SSTR2, SSTR1, SSTR5
44nephrolithiasis10.0FGF23, PTH
45hypophosphatemic rickets, autosomal dominant10.0SFRP4, MEPE, PHEX, FGF23
46multiple endocrine neoplasia iia10.0PTH, CALCA
47autosomal dominant disease10.0CALCA, PTH
48somatostatinoma10.0SSTR2, CALCA
49dwarfism10.0PTH1R, PTH
50prolactinoma10.0SSTR3, SSTR2, SSTR1, SSTR5

Graphical network of the top 20 diseases related to Oncogenic Osteomalacia:



Diseases related to oncogenic osteomalacia

Symptoms for Oncogenic Osteomalacia

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Drugs & Therapeutics for Oncogenic Osteomalacia

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Drug clinical trials:

Search ClinicalTrials for Oncogenic Osteomalacia

Search NIH Clinical Center for Oncogenic Osteomalacia

Genetic Tests for Oncogenic Osteomalacia

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Anatomical Context for Oncogenic Osteomalacia

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MalaCards organs/tissues related to Oncogenic Osteomalacia:

33
Bone, Prostate, Colon, Kidney, Lung, Breast

Animal Models for Oncogenic Osteomalacia or affiliated genes

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MGI Mouse Phenotypes related to Oncogenic Osteomalacia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9DMP1, PTH, PTH1R, PHEX, FGF23
2MP:00053818.7FGF23, PHEX, SSTR2, PTH1R, SFRP4
3MP:00053678.2SFRP4, CALCA, PHEX, FGF7, FGF23
4MP:00053908.1DMP1, PTH, PTH1R, MEPE, CALCA, PHEX
5MP:00053766.6FGF23, SFRP4, PTH, PTH1R, SSTR5, SSTR1

Publications for Oncogenic Osteomalacia

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Articles related to Oncogenic Osteomalacia:

(show top 50)    (show all 150)
idTitleAuthorsYear
1
Oncogenic osteomalacia caused by an occult paranasal sinus tumor. (25682388)
2015
2
Phosphaturic mesenchymal tumor of the tibia with oncogenic osteomalacia in a teenager. (25721582)
2015
3
Oncogenic osteomalacia presenting as a crippling illness in a young man. (25263679)
2014
4
Oncogenic osteomalacia caused by phosphaturic mesenchymal tumours in the proximal and shaft of the tibia: a case report. (25163969)
2014
5
Oncogenic osteomalacia induced by a sinonasal tumour: case report and review. (25090814)
2014
6
Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma. (23393166)
2013
7
Diagnostic Findings and Treatment in a 51-Year-Old Woman With Oncogenic Osteomalacia. (24423314)
2013
8
Thoracic phosphaturic mesenchymal tumors causing oncogenic osteomalacia. (23618679)
2013
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
Oncogenic osteomalacia should be considered in hypophosphatemia, bone pain and pathological fractures. (22744630)
2012
12
Matrix extracellular phosphoglycoprotein is expressed in causative tumors of oncogenic osteomalacia. (21739089)
2012
13
Oncogenic osteomalacia: loss of hypophosphatemia might be the key to avoid misdiagnosis. (23295300)
2012
14
Oncogenic osteomalacia due to phosphaturic mesenchymal tumor of the craniofacial sinuses. (22461817)
2011
15
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
16
Oncogenic osteomalacia of the cervical spine: a rare case of curative resection and reconstruction. (21275557)
2011
17
Oncogenic osteomalacia in a patient with an ethmoid sinus tumour. (20003602)
2010
18
Bilateral insufficiency fracture of the femoral head and neck in a case of oncogenic osteomalacia. (20595128)
2010
19
Interesting image. The search for primary tumor in a patient with oncogenic osteomalacia: F-18 FDG PET resolves the conundrum. (20940555)
2010
20
Somatostatin receptor expression in an epitheloid hemangioma causing oncogenic osteomalacia. (19789203)
2009
21
Oncogenic osteomalacia from pterygopalatine fossa mass. (19250593)
2009
22
A phosphaturic mesenchymal tumor of the floor of the mouth with oncogenic osteomalacia: report of a case. (19138617)
2009
23
Phosphaturic mesenchymal tumour-mixed connective tissue variant without oncogenic osteomalacia. (19638551)
2009
24
Rapid detection of intact FGF-23 in tumor tissue from patients with oncogenic osteomalacia. (18593970)
2008
25
Oncogenic osteomalacia, a rare paraneoplastic syndrome due to phosphate wasting--a case report and review of the literature. (19000546)
2008
26
Oncogenic osteomalacia: muscular weakness and multiple fractures. (16864847)
2006
27
Oncogenic osteomalacia associated with an occult phosphaturic mesenchymal tumour: clinico-radiologico-pathological correlation and ultrastructural studies. (16912362)
2006
28
Oncogenic osteomalacia caused by phosphaturic mesenchymal tumor of the temporal bone. (17011438)
2006
29
Oncogenic osteomalacia cured by removal of an organized hematoma. (16239206)
2005
30
Case 3. Oncogenic osteomalacia associated with hemangiopericytoma localized by octreotide scan. (15908675)
2005
31
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. (12890852)
2003
32
Clinical case seminar: Fibroblast growth factor 23: a new clinical marker for oncogenic osteomalacia. (12970268)
2003
33
Bone and In-111 octreotide imaging in oncogenic osteomalacia: a case report. (12170004)
2002
34
Oncogenic osteomalacia. (12541196)
2002
35
Diagnosis of a patient with oncogenic osteomalacia using a phosphate uptake bioassay of serum and magnetic resonance imaging. (11581007)
2001
36
Extracts from tumors causing oncogenic osteomalacia inhibit phosphate uptake in opossum kidney cells. (11375132)
2001
37
Oncogenic osteomalacia associated with soft tissue chondromyxoid fibroma. (11522411)
2001
38
Oncogenic osteomalacia secondary to a hemangiopericytoma of the hip: case report. (10047746)
1999
39
Oncogenic osteomalacia presenting as bilateral stress fractures of the tibia. (10068075)
1999
40
Bone scintigraphy in a case of oncogenous osteomalacia. (9676956)
1998
41
Oncogenic osteomalacia: evidence for a humoral phosphaturic factor. (7745010)
1995
42
Oncogenic osteomalacia. (8084347)
1994
43
Brief report: inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia. (8177270)
1994
44
Oncogenic osteomalacia: imaging studies. (8387360)
1993
45
Oncogenic osteomalacia associated with metastatic prostate carcinoma: case report and review of the literature. (8409185)
1993
46
A neuroendocrine cause of oncogenic osteomalacia. (1378890)
1992
47
Oncogenic osteomalacia. A case report. (2743673)
1989
48
Oncogenic osteomalacia. (2983596)
1985
49
Oncogenic osteomalacia and renal adenomatoid dysplasia. (4039546)
1985
50
Oncogenic osteomalacia. (6469602)
1984

Variations for Oncogenic Osteomalacia

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Clinvar genetic disease variations for Oncogenic Osteomalacia:

7
id Gene Variation Type Significance SNP ID Assembly Location
1MRPL44NM_022915.3(MRPL44): c.467T> G (p.Leu156Arg)single nucleotide variantPathogenicrs143697995GRCh37Chr 2, 224824538: 224824538

Expression for genes affiliated with Oncogenic Osteomalacia

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Search GEO for disease gene expression data for Oncogenic Osteomalacia.

Pathways for genes affiliated with Oncogenic Osteomalacia

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Pathways related to Oncogenic Osteomalacia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PTH1R, PTH
2
Show member pathways
9.7FGF23, FGF7
39.5PTH, PTH1R, FGF23
4
Show member pathways
9.4CALCA, PTH1R, PTH
59.4PTH, PTH1R, CALCA
69.4CALCA, PTH1R, PTH
7
Show member pathways
Peptide GPCRs38
8.4SSTR3, SSTR2, SSTR1, SSTR5
8
Show member pathways
7.3CALCA, PTH, PTH1R, SSTR5, SSTR1, SSTR2
9
Show member pathways
6.5PTH, PTH1R, SSTR5, SSTR1, SSTR2, SSTR3

Compounds for genes affiliated with Oncogenic Osteomalacia

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Compounds related to Oncogenic Osteomalacia according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1bim 23030309.4SSTR5, SSTR2, SSTR3
2boc-ate309.4SSTR5, SSTR2, SSTR3
3[111in,90y]dota-oc309.3SSTR5, SSTR2, SSTR3
4[111in,90y]dota-lan309.3SSTR2, SSTR3, SSTR5
5bim 23056309.3SSTR3, SSTR2, SSTR5
6[111in,90y]dota-toc309.3SSTR3, SSTR2, SSTR5
7noc-ate309.3SSTR5, SSTR2, SSTR3
8l-363,301309.3SSTR5, SSTR2, SSTR3
9[111in]dota-noc-ate309.3SSTR3, SSTR2, SSTR5
10[111in]dota-noc309.2SSTR5, SSTR2, SSTR3
11bim 23023309.2SSTR5, SSTR2, SSTR3
12[111in]dota-boc-ate309.2SSTR5, SSTR2, SSTR3
13111in-pentetreotide459.2SSTR2, SSTR5, SSTR1, CALCA
14phosphorus459.2PTH, CALCA, FGF23, PTH1R, PHEX
15mk-678309.2SSTR3, SSTR5, SSTR2
16bim 23197309.1SSTR5, SSTR2, SSTR3
17[111in,90y]dota-noc309.1SSTR5, SSTR2, SSTR3
18vapreotide45 30 1311.0SSTR3, SSTR2, SSTR5
19nc 4-28b308.9SSTR1, SSTR2, SSTR3
20som-230308.9SSTR1, SSTR2, SSTR3, SSTR5
21[125i]ltt-srif-28308.8SSTR2, SSTR3, SSTR1, SSTR5
22cst-17308.8SSTR2, SSTR3, SSTR5, SSTR1
23bim 23052308.8SSTR2, SSTR1, SSTR5, SSTR3
24cgp 23996308.8SSTR3, SSTR2, SSTR1, SSTR5
25ke 108308.8SSTR3, SSTR2, SSTR5, SSTR1
26srif-28308.8SSTR1, SSTR5, SSTR2, SSTR3
27[125i]cgp 23996308.8SSTR3, SSTR2, SSTR1, SSTR5
28[125i]tyr10-cst14308.8SSTR3, SSTR2, SSTR1, SSTR5
29srif-14308.8SSTR3, SSTR2, SSTR1, SSTR5
30[l-tyr8]cyn 154806308.8SSTR1, SSTR2, SSTR3, SSTR5
31bim 23454308.8SSTR5, SSTR1, SSTR2, SSTR3
32bim 23627308.8SSTR5, SSTR1, SSTR2, SSTR3
33l-362,855308.8SSTR1, SSTR5, SSTR2, SSTR3
34pasireotide45 139.8SSTR5, SSTR2, SSTR3, SSTR1
35[d-tyr8]cyn 154806308.8SSTR5, SSTR1, SSTR2, SSTR3
36(1r,1s,3r/1r,1r,3s)-l-054,264618.8SSTR3, SSTR2, SSTR1, SSTR5
37cst-14308.8SSTR1, SSTR3, SSTR5, SSTR2
38cyn 154806618.8SSTR2, SSTR5, SSTR1, SSTR3
39cyclosomatostatin618.8SSTR3, SSTR2, SSTR1, SSTR5
40somatostatin61 269.8SSTR2, SSTR1, SSTR5, SSTR3
41lanreotide45 309.8SSTR3, SSTR1, SSTR2, SSTR5
42bim 23050308.8SSTR5, SSTR1, SSTR3
431,25 dihydroxy vitamin d3458.7PTH1R, CALCA, PHEX, FGF23, PTH, FGF7
4425-hydroxyvitamin d458.7CALCA, FGF23, PTH, SFRP4
45des-aa5-[d-trp8]srif308.6SSTR3, SSTR1, SSTR5
46vitamin d458.4FGF7, PTH, DMP1, PHEX, PTH1R, CALCA
47ribonucleic acid458.4PTH1R, SSTR5, FGF7, SSTR2, PTH, SSTR1
48calcitriol45 61 26 1311.3PTH, SFRP4, PTH1R, MEPE, CALCA, FGF23
49octreotide45 61 30 1311.2SSTR1, SSTR5, FGF23, CALCA, SSTR3, SSTR2
50calcium45 51 26 139.6DMP1, PTH1R, SSTR5, SSTR1, SSTR2, PTH

GO Terms for genes affiliated with Oncogenic Osteomalacia

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Cellular components related to Oncogenic Osteomalacia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.7FGF23, FGF7, CALCA, PTH, DMP1
2integral component of plasma membraneGO:00058877.4PHEX, PTH1R, SSTR5, SSTR1, SSTR2, SSTR3

Biological processes related to Oncogenic Osteomalacia according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of bone mineralizationGO:00305029.9FGF23, MEPE
2phosphate ion homeostasisGO:00550629.9SFRP4, FGF23
3bone resorptionGO:00454539.9PTH, PTH1R
4biomineral tissue developmentGO:00312149.8MEPE, DMP1
5bone mineralizationGO:00302829.8PHEX, PTH1R
6vasculature developmentGO:00019449.7CALCA, SFRP4
7somatostatin signaling pathwayGO:00381709.7SSTR5, SSTR3
8positive regulation of cAMP biosynthetic processGO:00308199.6PTH, CALCA
9adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.6CALCA, PTH1R, PTH
10hormone-mediated apoptotic signaling pathwayGO:00086289.6PTH, SSTR3
11cellular response to glucocorticoid stimulusGO:00713859.5SSTR3, SSTR2
12digestionGO:00075869.5SSTR2, SSTR1
13skeletal system developmentGO:00015019.3PTH, PTH1R, MEPE, PHEX
14G-protein coupled receptor signaling pathwayGO:00071869.2SSTR5, PTH1R, PTH
15cellular response to estradiol stimulusGO:00713929.0SSTR3, SSTR2, SSTR1
16cerebellum developmentGO:00215499.0SSTR3, SSTR2, SSTR1
17response to starvationGO:00425949.0SSTR3, SSTR2, SSTR1
18forebrain developmentGO:00309008.9SSTR3, SSTR2, SSTR1
19G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messengerGO:00071878.4SSTR3, SSTR2, SSTR1, SSTR5, PTH1R
20cell-cell signalingGO:00072678.0PTH, SSTR1, SSTR2, SSTR3, CALCA, PHEX
21negative regulation of cell proliferationGO:00082857.8SFRP4, PTH1R, SSTR5, SSTR1, SSTR2, SSTR3

Molecular functions related to Oncogenic Osteomalacia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1somatostatin receptor activityGO:00049948.4SSTR3, SSTR2, SSTR1, SSTR5

Products for genes affiliated with Oncogenic Osteomalacia

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Sources for Oncogenic 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