MCID: ONC003
MIFTS: 47

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

MalaCards based summary: Oncogenic Osteomalacia, also known as infantile hypertrophic cardiomyopathy due to mrpl44 deficiency, is related to paraneoplastic syndromes and osteomalacia. 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 23056 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:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Oncogenic Osteomalacia, Aliases & Descriptions:

Name: Oncogenic Osteomalacia 41 47 60
Infantile Hypertrophic Cardiomyopathy Due to Mrpl44 Deficiency 41 47
Combined Oxidative Phosphorylation Defect Type 16 41 47
Tumor-Induced Osteomalacia 41 47
Coxpd16 41 47
 
Oncogenic Hypophosphatemic Osteomalacia 47
Tio 47
Oom 41
Oo 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
infantile hypertrophic cardiomyopathy due to mrpl44 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
oncogenic osteomalacia:
Inheritance: Not applicable; Age of onset: All ages


External Ids:

Orphanet47 352563, 352540
ICD10 via Orphanet26 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 Suite gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1paraneoplastic syndromes31.0FGF23, PHEX
2osteomalacia30.6FGF23, DMP1, PHEX, CALCA, MEPE, PTH1R
3rickets30.4DMP1, SFRP4, PTH, MEPE, PHEX, FGF23
4hyperparathyroidism30.4PTH, CALCA, PHEX, FGF23
5giant cell tumor30.3CALCA, FGF23
6hypophosphatemia29.9DMP1, SFRP4, PTH, MEPE, CALCA, PHEX
7primary hyperparathyroidism29.8FGF23, CALCA, PTH1R, PTH
8prostate cancer29.7SFRP4, PTH1R, SSTR5, SSTR1, SSTR2, FGF7
9hypervitaminosis d10.5FGF23
10dentin dysplasia10.5MEPE
11hemangiopericytoma10.5
12osteitis fibrosa10.4PTH
13prostatitis10.4
14hemangioma10.3
15dentinogenesis imperfecta10.3MEPE, DMP1
16calcinosis10.3FGF23, PTH
17fanconi syndrome10.3
18neurofibromatosis10.3
19glucagonoma10.2SSTR2, SSTR5
20hyperphosphatemia10.2FGF23, PTH, SFRP4
21gastrinoma10.2SSTR5, SSTR1, SSTR2
22pseudohypoparathyroidism, type ib10.2PTH1R, PTH
23acromegaly10.2SSTR2, SSTR1, SSTR5
24avascular necrosis of the femoral head10.1
25fibrous dysplasia10.1
26myopathy10.1
27uremia10.1
28nephrolithiasis10.1FGF23, PTH
29hypophosphatemic rickets, autosomal dominant10.1SFRP4, MEPE, PHEX, FGF23
30chondrosarcoma10.1
31renal cell carcinoma10.1
32sinusitis10.1
33fibroma10.1
34adenocarcinoma10.1
35cervicitis10.1
36colon adenocarcinoma10.1
37meningitis10.1
38mesenchymal chondrosarcoma10.1
39plasmacytoma10.1
40syndrome of inappropriate antidiuretic hormone10.1
41myopericytoma10.1
42chondromyxoid fibroma10.1
43combined oxidative phosphorylation deficiency 110.1
44adenoiditis10.1
45overuse syndrome10.1
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:

31
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:

35
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:

6
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 Suite gene sharing:

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
7.3CALCA, PTH, PTH1R, SSTR5, SSTR1, SSTR2
8
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 Suite gene sharing:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1bim 23056289.4SSTR2, SSTR3, SSTR5
2boc-ate289.4SSTR5, SSTR2, SSTR3
3[111in,90y]dota-oc289.3SSTR5, SSTR2, SSTR3
4bim 23197289.3SSTR5, SSTR2, SSTR3
5l-363,301289.3SSTR3, SSTR5, SSTR2
6[111in,90y]dota-toc289.3SSTR5, SSTR2, SSTR3
7[111in,90y]dota-lan289.3SSTR5, SSTR2, SSTR3
8noc-ate289.3SSTR5, SSTR2, SSTR3
9[111in,90y]dota-noc289.3SSTR5, SSTR2, SSTR3
10[111in]dota-noc289.2SSTR5, SSTR2, SSTR3
11bim 23023289.2SSTR5, SSTR2, SSTR3
12[111in]dota-boc-ate289.2SSTR5, SSTR2, SSTR3
13111in-pentetreotide439.2SSTR5, SSTR1, SSTR2, CALCA
14phosphorus439.2PTH, PTH1R, CALCA, PHEX, FGF23
15[111in]dota-noc-ate289.2SSTR3, SSTR5, SSTR2
16bim 23030289.1SSTR5, SSTR2, SSTR3
17mk-678289.0SSTR5, SSTR2, SSTR3
18vapreotide43 28 1211.0SSTR3, SSTR2, SSTR5
19nc 4-28b288.9SSTR2, SSTR3, SSTR1
20bim 23050288.9SSTR5, SSTR1, SSTR3
21som-230288.9SSTR5, SSTR1, SSTR2, SSTR3
22l-362,855288.8SSTR1, SSTR5, SSTR2, SSTR3
23bim 23627288.8SSTR3, SSTR2, SSTR1, SSTR5
24ke 108288.8SSTR5, SSTR1, SSTR2, SSTR3
25cgp 23996288.8SSTR5, SSTR1, SSTR2, SSTR3
26bim 23454288.8SSTR3, SSTR2, SSTR5, SSTR1
27pasireotide43 129.8SSTR1, SSTR2, SSTR3, SSTR5
28[d-tyr8]cyn 154806288.8SSTR5, SSTR1, SSTR2, SSTR3
29[l-tyr8]cyn 154806288.8SSTR5, SSTR1, SSTR2, SSTR3
30[125i]ltt-srif-28288.8SSTR3, SSTR5, SSTR1, SSTR2
31srif-28288.8SSTR2, SSTR3, SSTR1, SSTR5
32srif-14288.8SSTR5, SSTR1, SSTR2, SSTR3
33[125i]tyr10-cst14288.8SSTR5, SSTR1, SSTR2, SSTR3
34bim 23052288.8SSTR5, SSTR1, SSTR2, SSTR3
35[125i]cgp 23996288.8SSTR5, SSTR1, SSTR3, SSTR2
36cst-17288.8SSTR3, SSTR2, SSTR1, SSTR5
37(1r,1s,3r/1r,1r,3s)-l-054,264598.8SSTR2, SSTR1, SSTR5, SSTR3
38cst-14288.8SSTR3, SSTR2, SSTR1, SSTR5
39cyclosomatostatin598.8SSTR5, SSTR3, SSTR2, SSTR1
40cyn 154806598.8SSTR3, SSTR2, SSTR1, SSTR5
41somatostatin59 249.8SSTR5, SSTR1, SSTR2, SSTR3
42lanreotide43 289.8SSTR5, SSTR1, SSTR2, SSTR3
431,25 dihydroxy vitamin d3438.7PTH, PTH1R, CALCA, PHEX, FGF7, FGF23
4425-hydroxyvitamin d438.7FGF23, CALCA, PTH, SFRP4
45des-aa5-[d-trp8]srif288.6SSTR5, SSTR1, SSTR3
46vitamin d438.4DMP1, PTH, PTH1R, CALCA, PHEX, FGF7
47ribonucleic acid438.4PTH, PTH1R, SSTR5, SSTR1, SSTR2, FGF7
48calcitriol43 59 24 1211.3SFRP4, PTH, PTH1R, MEPE, CALCA, PHEX
49octreotide43 59 28 1211.2FGF23, CALCA, SSTR3, SSTR2, SSTR1, SSTR5
50calcium43 49 24 129.6DMP1, SFRP4, PTH, PTH1R, SSTR5, SSTR1

GO Terms for genes affiliated with Oncogenic Osteomalacia

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Cellular components related to Oncogenic Osteomalacia according to GeneCards Suite gene sharing:

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 Suite gene sharing:

(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 Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet