MCID: ONC003
MIFTS: 45

Oncogenic Osteomalacia

Categories: Rare diseases, Bone diseases, Endocrine diseases

Aliases & Classifications for Oncogenic Osteomalacia

MalaCards integrated aliases for Oncogenic Osteomalacia:

Name: Oncogenic Osteomalacia 49 55 69
Oncogenic Hypophosphatemic Osteomalacia 49 55
Tumor-Induced Osteomalacia 49 55
Tio 49 55
Osteomalacia, Tumor-Induced 13

Characteristics:

Orphanet epidemiological data:

55
oncogenic osteomalacia
Inheritance: Not applicable; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 55 ORPHA352540
UMLS via Orphanet 70 C1274103
ICD10 via Orphanet 33 M83.8
UMLS 69 C1274103

Summaries for Oncogenic Osteomalacia

NIH Rare Diseases : 49 Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed. Last updated: 10/19/2017

MalaCards based summary : Oncogenic Osteomalacia, also known as oncogenic hypophosphatemic osteomalacia, is related to osteomalacia and paraneoplastic syndromes. An important gene associated with Oncogenic Osteomalacia is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Osteoblast Signaling. The drugs Somatostatin and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and skin, and related phenotypes are growth/size/body region and hematopoietic system

Wikipedia : 72 Oncogenic osteomalacia or tumor-induced osteomalacia, also known as oncogenic hypophosphatemic... more...

Related Diseases for Oncogenic Osteomalacia

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 osteomalacia 30.2 DMP1 FGF23 PHEX PTHLH SFRP4
2 paraneoplastic syndromes 30.0 FGF23 PTHLH
3 secondary hyperparathyroidism of renal origin 29.8 FGF23 PTH
4 rickets 29.7 DMP1 FGF23 PHEX PTH
5 hypophosphatemia 29.4 DMP1 FGF23 PHEX PTH SFRP4
6 hyperparathyroidism 29.2 FGF23 PHEX PTH PTHLH
7 opsismodysplasia 10.4 FGF23 PHEX
8 familial tumoral calcinosis 10.4 FGF23 PHEX
9 raine syndrome 10.3 DMP1 FGF23
10 arterial calcification of infancy 10.3 FGF23 PHEX
11 hypervitaminosis d 10.2 FGF23 PTH
12 calciphylaxis 10.2 FGF23 PTH
13 impaired renal function disease 10.2 FGF23 PTH
14 pulmonary alveolar microlithiasis 10.2 FGF23 PTH
15 enthesopathy 10.2 DMP1 FGF23 PHEX
16 autosomal recessive hypophosphatemic rickets 10.2 DMP1 FGF23 PHEX
17 hemangiopericytoma, malignant 10.1
18 renal osteodystrophy 10.1 FGF23 PTH
19 bone remodeling disease 10.1 FGF23 PHEX PTH
20 prostatitis 10.0
21 episodic pain syndrome, familial, 1 10.0
22 hemangioma 10.0
23 hypophosphatemic rickets, autosomal dominant 9.9 FGF23 MEPE PHEX SFRP4
24 hyperphosphatemia 9.9 FGF23 PTH
25 lacrimoauriculodentodigital syndrome 9.9 FGF23 FGF7
26 fanconi syndrome 9.9
27 neurofibromatosis, type iv, of riccardi 9.9
28 prostate cancer 9.9
29 extraskeletal chondroma 9.9 PTH PTHLH
30 sclerosing hepatic carcinoma 9.9 PTH PTHLH
31 invasive malignant thymoma 9.8 PTH PTHLH
32 pyle disease 9.8 PTHLH SFRP4
33 clear cell adenoma 9.8 PTH PTHLH
34 hypercalcemia, infantile, 1 9.8 PTH PTHLH
35 phosphorus metabolism disease 9.8 DMP1 FGF23 PHEX PTH
36 jaw cancer 9.8 PTH PTHLH
37 myopericytoma 9.7
38 chondromyxoid fibroma 9.7
39 neurofibromatosis, type ii 9.7
40 blood group, i system 9.7
41 fanconi renotubular syndrome 1 9.7
42 giant cell tumor 9.7
43 renal cell carcinoma, nonpapillary 9.7
44 colon adenocarcinoma 9.7
45 glomus tumor 9.7
46 cervicitis 9.7
47 chondrosarcoma 9.7
48 adenocarcinoma 9.7
49 plasmacytoma 9.7
50 mesenchymal chondrosarcoma 9.7

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



Diseases related to Oncogenic Osteomalacia

Symptoms & Phenotypes for Oncogenic Osteomalacia

MGI Mouse Phenotypes related to Oncogenic Osteomalacia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.01 FGF23 PTHLH FGF7 SFRP4 SSTR5 PHEX
2 hematopoietic system MP:0005397 9.97 FGF7 SFRP4 MEPE PHEX DMP1 PTH
3 homeostasis/metabolism MP:0005376 9.97 FGF7 SFRP4 SSTR1 SSTR5 PHEX DMP1
4 immune system MP:0005387 9.86 PTHLH FGF7 SFRP4 MEPE PHEX DMP1
5 limbs/digits/tail MP:0005371 9.63 SFRP4 PHEX DMP1 PTH FGF23 PTHLH
6 renal/urinary system MP:0005367 9.43 FGF7 SFRP4 PHEX DMP1 FGF23 PTHLH
7 skeleton MP:0005390 9.23 FGF7 SFRP4 MEPE PHEX DMP1 PTH

Drugs & Therapeutics for Oncogenic Osteomalacia

Drugs for Oncogenic Osteomalacia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 2,Early Phase 1 38916-34-6, 51110-01-1 53481605
2 Mitogens Phase 2,Phase 1
3 Antibodies, Monoclonal Phase 2
4 Immunoglobulins Phase 2
5 Antibodies Phase 2
6 Cinacalcet Hydrochloride Phase 1
7 Hormone Antagonists Phase 1
8 Hormones Phase 1
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
10 Calcimimetic Agents Phase 1
11
Menthol Approved Early Phase 1 2216-51-5 16666
12 Pharmaceutical Solutions Early Phase 1
13 phenylalanine Nutraceutical Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
2 Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS) Active, not recruiting NCT02304367 Phase 2 KRN23
3 Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors Active, not recruiting NCT01967537 Phase 2 68Gallium DOTATATE
4 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1 Osteomalacia
5 68Ga-DOTATATE PET/CT in Oncogenic Osteomalacia Unknown status NCT01524016 Early Phase 1 68Ga-DOTATATE
6 Molecular Pathways Involved in the Pathogenesis and Behavior of Mesenchymal Phosphaturic Tumors Causing Oncogenic Osteomalacia Unknown status NCT02331966
7 Catheterization to Locate Mesenchymal Tumors in Patients With Tumor-Induced Osteomalacia or Oncogenic Osteomalacia Completed NCT00099762
8 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308

Search NIH Clinical Center for Oncogenic Osteomalacia

Genetic Tests for Oncogenic Osteomalacia

Anatomical Context for Oncogenic Osteomalacia

MalaCards organs/tissues related to Oncogenic Osteomalacia:

38
Bone, Kidney, Skin, Prostate, Breast, Lung, Cortex

Publications for Oncogenic Osteomalacia

Articles related to Oncogenic Osteomalacia:

(show top 50) (show all 166)
# Title Authors Year
1
Occult phosphaturic mesenchymal tumor of femur cortex causing oncogenic osteomalacia: Diagnostic challenges and clinical outcomes. ( 29442350 )
2018
2
Oncogenic Osteomalacia. ( 29319792 )
2018
3
Perioperative management of patients with severe hypophosphataemia secondary to oncogenic osteomalacia: Our experience and review of literature. ( 28794533 )
2017
4
Musculoskeletal oncogenic osteomalacia-An experience from a single centre in South India. ( 28123260 )
2017
5
Oncogenic osteomalacia: role of Ga-68 DOTANOC PET/CT scan in identifying the culprit lesion and its management. ( 28181822 )
2017
6
Localization of Oncogenic Osteomalacia by Systemic Venous Sampling of Fibroblast Growth Factor 23. ( 28792142 )
2017
7
Glomus tumor as a cause of oncogenic osteomalacia. ( 29354168 )
2017
8
Oncogenic Osteomalacia Secondary to a Metastatic Phosphaturic Mesenchymal Tumor in the Talus: A Case Report and Review of the Literature. ( 29244678 )
2017
9
Oncogenic Osteomalacia: An Approach to Diagnosis with a Case Report. ( 28571152 )
2017
10
Correction to Oncogenic osteomalacia: role of Ga-68 DOTANOC PET/CT scan in identifying the culprit lesion and its management. ( 29034744 )
2017
11
Unusual calvarial tumour-oncogenic osteomalacia. ( 27010121 )
2016
12
"Slow and steady wins the race": the importance of perseverance in the management of oncogenic osteomalacia. ( 27900654 )
2016
13
177Lu-DOTATATE PRRT as promising new treatment approach in Recurrent Skull Base Phosphaturic Mesenchymal Tumor causing paraneoplastic oncogenic osteomalacia: a potential therapeutic application of PRRT beyond NET. ( 27634982 )
2016
14
A case of oncogenic osteomalacia due to occult nasal sinus tumor. ( 26136801 )
2015
15
Oncogenic osteomalacia caused by occult nasal mesenchymal tumor: a monster in the cave. ( 26634142 )
2015
16
Phosphaturic mesenchymal tumor of the tibia with oncogenic osteomalacia in a teenager. ( 25721582 )
2015
17
Oncogenic osteomalacia caused by an occult paranasal sinus tumor. ( 25682388 )
2015
18
Sinonasal glomangiopericytoma causing oncogenic osteomalacia. ( 24917914 )
2014
19
Oncogenic osteomalacia presenting as a crippling illness in a young man. ( 25263679 )
2014
20
Oncogenic osteomalacia, raised FGF-23, and renal Fanconi syndrome. ( 22179099 )
2014
21
Comparison of 18F-FDG and 68Ga DOTATATE PET/CT in Localization of Tumor Causing Oncogenic Osteomalacia. ( 24999675 )
2014
22
Oncogenic Osteomalacia From a Primary Phosphaturic Mesenchymal Tumor of the Toe: A Case Report. ( 25441266 )
2014
23
Oncogenic osteomalacia caused by phosphaturic mesenchymal tumours in the proximal and shaft of the tibia: a case report. ( 25163969 )
2014
24
Oncogenic osteomalacia induced by a sinonasal tumour: case report and review. ( 25090814 )
2014
25
Thoracic phosphaturic mesenchymal tumors causing oncogenic osteomalacia. ( 23618679 )
2013
26
Oncogenic osteomalacia -- hypophosphataemic spectrum from "benignancy" to "malignancy". ( 23220596 )
2013
27
Oncogenic osteomalacia caused by renal cell carcinoma. ( 24217907 )
2013
28
Diagnostic Findings and Treatment in a 51-Year-Old Woman With Oncogenic Osteomalacia. ( 24423314 )
2013
29
Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma. ( 23393166 )
2013
30
Insufficiency fracture associated with oncogenic osteomalacia. ( 23319023 )
2013
31
Oncogenic osteomalacia should be considered in hypophosphatemia, bone pain and pathological fractures. ( 22744630 )
2012
32
Striking pathology gold: a singular experience with daily reverberations: sinonasal hemangiopericytoma (glomangiopericytoma) and oncogenic osteomalacia. ( 22430770 )
2012
33
Oncogenic osteomalacia: loss of hypophosphatemia might be the key to avoid misdiagnosis. ( 23295300 )
2012
34
Nasal hemangiopericytoma causing oncogenic osteomalacia. ( 22977716 )
2012
35
Matrix extracellular phosphoglycoprotein is expressed in causative tumors of oncogenic osteomalacia. ( 21739089 )
2012
36
Oncogenic osteomalacia associated with mesenchymal tumor in the middle cranial fossa: a case report. ( 22747833 )
2012
37
Advanced prostate cancer as a cause of oncogenic osteomalacia: an underdiagnosed condition. ( 22552356 )
2012
38
Comparison of whole body diffusion weighted magnetic resonance imaging and somatostatin receptor scintigraphy for oncogenic osteomalacia. ( 23134817 )
2012
39
Intracranial phosphaturic mesenchymal tumor, mixed connective tissue variant presenting without oncogenic osteomalacia. ( 23372968 )
2012
40
Oncogenic osteomalacia from nasal cavity giant cell tumor. ( 22311466 )
2012
41
Anesthesia for oncogenic osteomalacia--a rare paraneoplastic syndrome. ( 23026174 )
2012
42
Oncogenic osteomalacia due to phosphaturic mesenchymal tumor of the craniofacial sinuses. ( 22461817 )
2011
43
Case 165: Oncogenic osteomalacia. ( 21183494 )
2011
44
Oncogenic osteomalacia of the cervical spine: a rare case of curative resection and reconstruction. ( 21275557 )
2011
45
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
46
Oncogenic osteomalacia diagnosed by blood pool scintigraphy. ( 23559714 )
2011
47
Photoclinic. Oncogenic osteomalacia. ( 20433234 )
2010
48
Oncogenic osteomalacia: A reversible metabolic bone disorder. ( 20924474 )
2010
49
Multiple phosphaturic mesenchymal tumors associated with oncogenic osteomalacia: case report and review of the literature. ( 20556724 )
2010
50
Oncogenic osteomalacia: Problems in diagnosis and long-term management. ( 20924490 )
2010

Variations for Oncogenic Osteomalacia

Expression for Oncogenic Osteomalacia

Search GEO for disease gene expression data for Oncogenic Osteomalacia.

Pathways for Oncogenic Osteomalacia

Pathways related to Oncogenic Osteomalacia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.55 PTH PTHLH
2 9.77 FGF23 PTH

GO Terms for Oncogenic Osteomalacia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.17 DMP1 FGF23 FGF7 MEPE PTH PTHLH

Biological processes related to Oncogenic Osteomalacia according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.97 PTH PTHLH SFRP4 SSTR1 SSTR3 SSTR5
2 regulation of receptor activity GO:0010469 9.86 FGF23 FGF7 PTH PTHLH
3 cellular protein metabolic process GO:0044267 9.76 DMP1 FGF23 MEPE
4 negative regulation of cell proliferation GO:0008285 9.72 PTHLH SFRP4 SSTR1 SSTR3 SSTR5
5 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.61 FGF23 FGF7
6 cerebellum development GO:0021549 9.61 SSTR1 SSTR3
7 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.61 SSTR1 SSTR3 SSTR5
8 positive regulation of cAMP biosynthetic process GO:0030819 9.6 PTH PTHLH
9 cellular response to estradiol stimulus GO:0071392 9.59 SSTR1 SSTR3
10 response to starvation GO:0042594 9.58 SSTR1 SSTR3
11 cellular response to glucocorticoid stimulus GO:0071385 9.57 SSTR3 SSTR5
12 skeletal system development GO:0001501 9.56 MEPE PHEX PTH PTHLH
13 response to vitamin D GO:0033280 9.55 PHEX PTH
14 negative regulation of chondrocyte differentiation GO:0032331 9.54 PTH PTHLH
15 cellular response to vitamin D GO:0071305 9.52 FGF23 PHEX
16 cellular response to parathyroid hormone stimulus GO:0071374 9.51 FGF23 PHEX
17 hormone-mediated apoptotic signaling pathway GO:0008628 9.48 PTH SSTR3
18 phosphate ion homeostasis GO:0055062 9.46 FGF23 SFRP4
19 cAMP metabolic process GO:0046058 9.4 PTH PTHLH
20 response to sodium phosphate GO:1904383 9.37 FGF23 PHEX
21 cell-cell signaling GO:0007267 9.35 PHEX PTH PTHLH SSTR1 SSTR3
22 biomineral tissue development GO:0031214 9.33 DMP1 MEPE PHEX
23 somatostatin signaling pathway GO:0038170 8.8 SSTR1 SSTR3 SSTR5

Molecular functions related to Oncogenic Osteomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 1-phosphatidylinositol-3-kinase activity GO:0016303 9.32 FGF23 FGF7
2 fibroblast growth factor receptor binding GO:0005104 9.26 FGF23 FGF7
3 peptide hormone receptor binding GO:0051428 9.16 PTH PTHLH
4 neuropeptide binding GO:0042923 9.13 SSTR1 SSTR3 SSTR5
5 somatostatin receptor activity GO:0004994 8.8 SSTR1 SSTR3 SSTR5

Sources for Oncogenic Osteomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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