MCID: OST011
MIFTS: 52

Osteomalacia

Categories: Bone diseases, Muscle diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Osteomalacia

MalaCards integrated aliases for Osteomalacia:

Name: Osteomalacia 12 73 20 54 15 17 70
Adult Rickets 70

Classifications:



External Ids:

Disease Ontology 12 DOID:10573
ICD9CM 34 268.2
NCIt 50 C26838
SNOMED-CT 67 190639009
UMLS 70 C0029442 C3887650

Summaries for Osteomalacia

GARD : 20 Osteomalacia is a disease that is characterized by a weakening of the bone, often due to a deficiency of vitamin D. This vitamin supports the development of the bones of the body, so when there are low levels of vitamin D, the bones are not strong enough. Symptoms of osteomalacia can include muscle weakness, bone pain, and walking with a waddling gait. Pain is especially likely to occur in the lower back, hips, and legs. The weakening of the bones may also cause them to easily fracture. Osetomalacia can be caused by having a low level of vitamin D in the diet or lack of sun exposure. The condition may also be the result of an underlying disease such as celiac disease, or kidney or liver disorders. Diagnosis of osteomalacia is possible through blood or urine tests to check for vitamin D levels or a bone biopsy. Treatment options include supplementing the diet with more vitamin D or calcium. Any underlying condition will also need to be treated.

MalaCards based summary : Osteomalacia, also known as adult rickets, is related to oncogenic osteomalacia and hypophosphatasia, adult. An important gene associated with Osteomalacia is DMP1 (Dentin Matrix Acidic Phosphoprotein 1), and among its related pathways/superpathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. The drugs Parathyroid hormone and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and liver, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A bone remodeling disease that has material basis in a vitamin D deficiency which results in softening located in bone.

Wikipedia : 73 Osteomalacia is a disease characterized by the softening of the bones caused by impaired bone metabolism... more...

Related Diseases for Osteomalacia

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

(show top 50) (show all 451)
# Related Disease Score Top Affiliating Genes
1 oncogenic osteomalacia 32.2 SFRP4 PTHLH PTH PHEX MEPE FGF23
2 hypophosphatasia, adult 31.6 PTH ENPP1 ALPL
3 fanconi renotubular syndrome 2 31.3 SLC34A3 SLC34A1 PHEX
4 hypophosphatasia 31.2 PTH PHEX FGF23 ENPP1 BGLAP ALPP
5 dent disease 1 31.1 SLC34A3 SLC34A1 CASR
6 fanconi syndrome 30.6 SLC34A3 SLC34A1 PTH PHEX FGF23
7 hereditary hypophosphatemic rickets 30.6 SLC34A3 SLC34A1
8 raine syndrome 30.4 FGF23 DMP1
9 metabolic acidosis 30.4 PTH FGF23 BGLAP
10 mammary paget's disease 30.4 PTH CALCA BGLAP
11 hypophosphatemic rickets, x-linked recessive 30.4 VDR SLC34A3 SLC34A1 SFRP4 PHEX MEPE
12 osteoblastoma 30.3 MEPE FGF23 BGLAP
13 paraneoplastic syndromes 30.2 PTHLH FGF23
14 fibrous dysplasia 30.2 FGF23 CALCA BGLAP
15 autosomal recessive hypophosphatemic rickets 30.2 SLC34A3 SFRP4 PTH PHEX MEPE FGF23
16 osteonecrosis 30.2 PTH CYP3A4 BGLAP
17 uremia 30.1 VDR PTH ENPP1 CASR
18 primary biliary cholangitis 30.1 VDR NR1I2 CYP3A4 BGLAP ALPP
19 osteitis fibrosa 30.1 PTH FGF23 CASR CALCA BGLAP
20 hypophosphatemic rickets, autosomal dominant 30.0 SLC34A3 SLC34A1 SFRP4 PTH PHEX MEPE
21 hyperthyroidism 30.0 PTH CALCA BGLAP ALPP
22 benign giant cell tumor 30.0 FGF23 CALCA BGLAP
23 renal osteodystrophy 29.9 VDR PTH FGF23 CASR CALCA BGLAP
24 bone resorption disease 29.9 VDR PTHLH PTH FGF23 CALCA BGLAP
25 nevus, epidermal 29.8 PHEX MEPE FGF23 ENPP1
26 nephrocalcinosis 29.8 SLC34A3 SLC34A1 PHEX CYP24A1 CASR
27 kidney disease 29.7 VDR PTH FGF23 ENPP1 CYP27B1 CASR
28 end stage renal disease 29.7 VDR PTH FGF23 CASR
29 calcinosis 29.7 PHEX MEPE FGF23 ENPP1 DMP1 CALCA
30 vitamin d-dependent rickets, type 2a 29.7 VDR PHEX CYP27B1
31 ossification of the posterior longitudinal ligament of spine 29.7 ENPP1 BGLAP
32 hypophosphatemic rickets, x-linked dominant 29.6 SLC34A3 SLC34A1 SFRP4 PTH PHEX MEPE
33 nephrolithiasis, calcium oxalate 29.6 VDR SLC34A1 CASR
34 chondrocalcinosis 29.6 ENPP1 CASR ALPL
35 secondary hyperparathyroidism 29.6 VDR PTH PHEX FGF23 CYP27B1 CYP24A1
36 calciphylaxis 29.6 VDR PTH FGF23 CASR
37 enthesopathy 29.6 SLC34A3 PTH PHEX MEPE FGF23 ENPP1
38 idiopathic hypercalciuria 29.5 VDR SLC34A3 CASR BGLAP
39 vitamin d-dependent rickets 29.4 VDR PTH PHEX CYP3A4 CYP27B1 BGLAP
40 hyperparathyroidism 29.4 VDR PTHLH PTH PHEX FGF23 CYP27B1
41 pseudohypoparathyroidism 29.4 PTHLH PTH CALCA BGLAP
42 hypophosphatemia 29.4 VDR SLC34A3 SLC34A1 SFRP4 PTHLH PTH
43 mccune-albright syndrome 29.4 SLC34A1 PTHLH FGF23 BGLAP ALPP
44 hyperphosphatemia 29.3 VDR SLC34A1 SFRP4 PTH PHEX FGF23
45 arterial calcification of infancy 29.3 SLC34A3 PHEX FGF23 ENPP1 ALPL
46 hypophosphatemic rickets with hypercalciuria, hereditary 29.3 SLC34A3 SLC34A1 PTH PHEX MEPE FGF23
47 parathyroid adenoma 29.3 VDR PTHLH PTH CASR CALCA BGLAP
48 bartter disease 29.1 SLC34A3 SLC34A1 PTH CASR
49 rickets 29.1 VDR SLC34A3 SLC34A1 PTH PHEX MEPE
50 bone disease 29.0 VDR SLC34A3 PTHLH PTH PHEX FGF23

Comorbidity relations with Osteomalacia via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Osteoporosis

Graphical network of the top 20 diseases related to Osteomalacia:



Diseases related to Osteomalacia

Symptoms & Phenotypes for Osteomalacia

GenomeRNAi Phenotypes related to Osteomalacia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.44 NR1I2
2 Decreased viability GR00221-A-2 9.44 NR1I2
3 Decreased viability GR00240-S-1 9.44 SLC34A3
4 Decreased viability GR00249-S 9.44 ALPL CYP24A1 ENPP1
5 Decreased viability GR00301-A 9.44 NR1I2
6 Decreased viability GR00381-A-1 9.44 CALCA SLC34A3
7 Decreased viability GR00386-A-1 9.44 ALPL SLC34A3 VDR
8 Decreased viability GR00402-S-2 9.44 ENPP1

MGI Mouse Phenotypes related to Osteomalacia:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 ALPL CASR CYP24A1 CYP27B1 DMP1 ENPP1
2 homeostasis/metabolism MP:0005376 10.27 ALPL BGLAP CASR CYP24A1 CYP27B1 DMP1
3 cellular MP:0005384 10.25 ALPL BGLAP CASR CYP27B1 DMP1 ENPP1
4 hematopoietic system MP:0005397 10.18 ALPL BGLAP CASR CYP27B1 DMP1 FGF23
5 endocrine/exocrine gland MP:0005379 10.16 ALPL BGLAP CASR CYP27B1 FGF23 PHEX
6 craniofacial MP:0005382 10.15 ALPL CASR CYP27B1 DMP1 ENPP1 PHEX
7 immune system MP:0005387 10.13 ALPL BGLAP CASR CYP27B1 DMP1 ENPP1
8 digestive/alimentary MP:0005381 10.08 ALPL CASR FGF23 PHEX PTHLH SFRP4
9 limbs/digits/tail MP:0005371 9.96 ALPL CYP27B1 DMP1 ENPP1 FGF23 PHEX
10 renal/urinary system MP:0005367 9.93 CASR CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
11 reproductive system MP:0005389 9.65 ALPL BGLAP CYP24A1 CYP27B1 FGF23 NR1I2
12 skeleton MP:0005390 9.53 ALPL BGLAP CASR CYP24A1 CYP27B1 DMP1

Drugs & Therapeutics for Osteomalacia

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
3 Vitamins Phase 4
4 Calciferol Phase 4
5 Hormones Phase 4
6 Trace Elements Phase 4
7 Nutrients Phase 4
8 Micronutrients Phase 4
9 Immunoglobulins Phase 4
10 Antibodies Phase 4
11 Antibodies, Monoclonal Phase 4
12 Pharmaceutical Solutions Phase 3
13 Mitogens Phase 3
14
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
15 Immunologic Factors Phase 2
16 Immunoglobulin G Phase 2
17 Immunoglobulins, Intravenous Phase 2
18
Cinacalcet Approved Phase 1 226256-56-0 156419
19
Teriparatide Approved, Investigational 52232-67-4 16133850
20
Cimetidine Approved, Investigational 51481-61-9 2756
21
Dimenhydrinate Approved 523-87-5 441281
22
Phenylalanine Approved, Investigational, Nutraceutical Early Phase 1 63-91-2 6140
23
Calcifediol Approved, Nutraceutical 19356-17-3 5283731 6433735
24 glucocorticoids
25 Calcium, Dietary
26 Fluorodeoxyglucose F18
27 Hydroxycholecalciferols
28 Anabolic Agents
29 Diphosphonates
30
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density Completed NCT01025128 Phase 4 25 OH vitamin D
2 An Open Label Trial to Assess the Safety and Efficacy of KRN23, an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome (ENS) and Associated Hypophosphatemic Rickets Active, not recruiting NCT04320316 Phase 4 Crysvita (burosumab-twza) Treatment
3 A Phase 3 Open-Label Trial to Assess the Efficacy and Safety of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT03233126 Phase 3 KRN23
4 An Open-Label, Single-Arm, Phase 3 Study to Evaluate the Effects of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
5 A Phase 3 Long-term Extension Study of KRN23 in Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT04308096 Phase 3 KRN23
6 Extension Study of Protocol ENB-006-09 Evaluating the Long-term Safety and Efficacy of Asfotase Alfa (Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein) in Children With Hypophosphatasia (HPP) Completed NCT01203826 Phase 2
7 A Randomized, Open-Label, Multicenter, Multinational, Dose-Ranging, Concurrent Control Study of the Safety, Efficacy, Pharmacokinetic of ENB-0040 (Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein) in Adolescents and Adults With Hypophosphatasia (HPP) Completed NCT01163149 Phase 2 asfotase alfa;asfotase alfa
8 A Multicenter, Open-Label Study of the Safety, Tolerability and Pharmacology of Asfotase Alfa in up to 10 Severely Affected Patients With for the Treatment of Severely Affected Patients With Infantile Hypophosphatasia (HPP) Completed NCT00744042 Phase 1, Phase 2
9 A Randomized, Open-Label, Multicenter, Multinational, Dose-Ranging, Historical Control Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of ENB-0040 (Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein) in Children With Hypophosphatasia (HPP) Completed NCT00952484 Phase 2
10 A Phase 2 Open-Label Trial to Assess the Efficacy and Safety of KRN23, an Antibody to FGF23, in Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)-Associated Osteomalacia Completed NCT02304367 Phase 2
11 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
12 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Completed NCT03510455 Phase 2 BGJ398
13 68Ga-DOTATATE PET for Localization of Phosphaturic Mesenchymal Tumors in Patients With Tumor Induced Osteomalacia Recruiting NCT03736564 Phase 1, Phase 2
14 A Phase 2 Open-Label Trial to Assess the Efficacy and Safety of KRN23 in Patients With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
15 Single-Center, Case-Control Study of Safety, Efficacy and Pharmacokinetics of ENB-0040 (Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein) for Treatment of Hypophosphatasia in Children Withdrawn NCT00894075 Phase 2
16 A Multicenter, Open-Label, Dose Escalating Study of the Safety, Tolerability and Pharmacology of Human Recombinant Tissue Non-Specific Alkaline Phosphatase Fusion Protein Asfotase Alfa in Adults With Hypophosphatasia (HPP) Completed NCT00739505 Phase 1
17 A Phase 1, Multicenter, Open-label, Sequential Dose-escalation, Single-dose Study to Assess the Safety and Tolerability of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia. Completed NCT02181764 Phase 1 KRN23
18 Head-to-head Comparison of 68Ga-DOTA-TATE and 68Ga-DOTA-JR11 PET/CT in Patients With Tumor-induced Osteomalacia Recruiting NCT04689893 Phase 1 68Ga-Dotatate;68Ga-DOTA-JR11
19 Open-label Dose-titration Study of the Tolerability and Efficacy of Cinacalcet to Treat Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia Terminated NCT01748812 Phase 1 Osteomalacia
20 Molecular Pathways Involved in the Pathogenesis and Behavior of Mesenchymal Phosphaturic Tumors Unknown status NCT02331966
21 68Ga-DOTATATE PET/CT for Detection and Evaluation of the Causative Tumor of Oncogenic Osteomalacia Unknown status NCT01524016 Early Phase 1 68Ga-DOTATATE
22 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
23 An Open-label, Multicenter, Expanded Access Program for Asfotase Alfa (Human Recombinant Tissue-nonspecific Alkaline Phosphatase Fusion Protein) Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP) Approved for marketing NCT02496689
24 A Single-Center, Non-interventional Substudy of ALX-HPP-502 to Assess Functional Natural History Data of Patients With Juvenile Historical Controls in ENB-006-09 Completed NCT02235493
25 Serum Sclerostin Level in Patients With Vitamin D Deficiency Completed NCT01553344
26 A Retrospective, Non-interventional, Epidemiologic Study of the Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP) Completed NCT02104219
27 Selective Venous Catheterization for the Localization of Phosphaturic Mesenchymal Tumors Completed NCT00099762
28 Effects Of Vitamin D Replacement Therapy on Serum FGF-23 Concentrations in Vitamin D Deficient Women In Short Term Completed NCT01102751
29 Vitamin D Status in the First 9 Months of Life Completed NCT02548520
30 Endogenous Calcium Stable Isotope Study (eCaSIS): Evaluation of MC-ICP-MS as a Diagnostic Tool for Metabolic Bone Diseases and Disorders of Calcium Metabolism Completed NCT02252679
31 Evaluate Survivorship for the Biomet® Comprehensive® Reverse Shoulder Mini Baseplate. Completed NCT02084693
32 An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia Recruiting NCT03745521
33 Study of the Diagnostic Value of Hybrid PET/MR and PET/CT in Neuroendocrine Diseases and Tumor Induced Osteomalacia Recruiting NCT04045834
34 Evaluation and Treatment of Bone and Mineral Disorders Recruiting NCT00024804
35 Studies of States With Resistance to Vitamin D and Parathyroid Hormone Recruiting NCT00001242
36 Expanded Access to Burosumab Available NCT03775187
37 Tumor-induced Osteomalacia Disease Monitoring Program (TIO DMP) Not yet recruiting NCT04783428
38 Development of a Novel, Safe Method for the Non-invasive Assessment of Human Bone Quality, In Vivo, Using Spatially Offset Raman Spectroscopy Suspended NCT02814591

Search NIH Clinical Center for Osteomalacia

Genetic Tests for Osteomalacia

Anatomical Context for Osteomalacia

The Foundational Model of Anatomy Ontology organs/tissues related to Osteomalacia:

19
Bone

MalaCards organs/tissues related to Osteomalacia:

40
Bone, Kidney, Liver, Prostate, Bone Marrow, Thyroid, Breast

Publications for Osteomalacia

Articles related to Osteomalacia:

(show top 50) (show all 5083)
# Title Authors PMID Year
1
[Bone and joint diseases in children. Phosphaturic hormone, FGF23, and bone metabolism]. 54 61
20513948 2010
2
The levels of somatostatin receptors in causative tumors of oncogenic osteomalacia are insufficient for their agonist to normalize serum phosphate levels. 61 54
20458578 2010
3
Phosphorylation-dependent inhibition of mineralization by osteopontin ASARM peptides is regulated by PHEX cleavage. 61 54
19775205 2010
4
Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism. 54 61
19669798 2010
5
Tumor-induced osteomalacia associated with a maxillofacial tumor producing fibroblast growth factor 23: report of a case and review of the literature. 54 61
20219587 2010
6
Physiological role of alkaline phosphatase explored in hypophosphatasia. 54 61
20392236 2010
7
[Disorders of phosphate metabolism]. 61 54
20408440 2010
8
Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active. 54 61
19965919 2010
9
MEPE's diverse effects on mineralization. 61 54
19998030 2010
10
Bone turnover and the osteoprotegerin-RANKL pathway in tumor-induced osteomalacia: a longitudinal study of five cases. 54 61
19763378 2009
11
Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. 54 61
19581284 2009
12
Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. 54 61
19555782 2009
13
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. 54 61
19609735 2009
14
RT-PCR analysis for FGF23 using paraffin sections in the diagnosis of phosphaturic mesenchymal tumors with and without known tumor induced osteomalacia. 54 61
19609206 2009
15
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. 54 61
19335222 2009
16
Relation between fibroblast growth factor-23, body weight and bone mineral density in elderly men. 54 61
18974917 2009
17
FGF23 elevation and hypophosphatemia after intravenous iron polymaltose: a prospective study. 61 54
19366850 2009
18
Emerging topics in pediatric bone and mineral disorders 2008. 61 54
19615558 2009
19
[Clinical aspect of recent progress in phosphate metabolism. Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23)]. 54 61
19483276 2009
20
Oncogenic osteomalacia: two case reports with surprisingly different outcomes. 61 54
19125258 2009
21
Effects of tumor-induced osteomalacia on the bone mineralization process. 61 54
19219382 2009
22
Tumor-induced osteomalacia: a case report. 61 54
19578602 2009
23
Fibroblast growth factor 23 (FGF23) and the kidney. 54 61
19569031 2009
24
Iron polymaltose-induced FGF23 elevation complicated by hypophosphataemic osteomalacia. 61 54
19151167 2009
25
Klotho gene, phosphocalcic metabolism, and survival in dialysis. 61 54
19121771 2009
26
Fibroblast Growth Factor 23 (FGF23) and Disorders of Phosphate Metabolism. 54 61
19956747 2009
27
Expression analysis of fibroblast growth factor-23, matrix extracellular phosphoglycoprotein, secreted frizzled-related protein-4, and fibroblast growth factor-7: identification of fibroblast growth factor-23 and matrix extracellular phosphoglycoprotein as major factors involved in tumor-induced osteomalacia. 61 54
19158050 2008
28
Clinical impact of somatostatin receptor scintigraphy in the management of tumor-induced osteomalacia. 61 54
18936605 2008
29
Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. 54 61
18288501 2008
30
Rapid detection of intact FGF-23 in tumor tissue from patients with oncogenic osteomalacia. 61 54
18593970 2008
31
Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. 61 54
18396126 2008
32
Preoperative tumor localization by means of venous sampling for fibroblast growth factor-23 in a patient with tumor-induced osteomalacia. 61 54
18463045 2008
33
Tumor-induced osteomalacia: lessons learned. 61 54
18311810 2008
34
Oncogenic hypophosphataemic osteomalacia: biomarker roles of fibroblast growth factor 23, 1,25-dihydroxyvitamin D3 and lymphatic vessel endothelial hyaluronan receptor 1. 61 54
18230836 2008
35
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. 61 54
18172553 2008
36
Generation of a conditional null allele for Dmp1 in mouse. 61 54
18257058 2008
37
Development of tumor-induced osteomalacia in a subcutaneous tumor, defined by venous blood sampling of fibroblast growth factor-23. 61 54
18379151 2008
38
Tumor-induced hypophosphatemic osteomalacia diagnosed by the combinatory procedures of magnetic resonance imaging and venous sampling for FGF23. 54 61
18480582 2008
39
Sporadic adult-onset hypophosphatemic osteomalacia caused by excessive action of fibroblast growth factor 23. 61 54
18310982 2008
40
Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro. 54 61
17699549 2007
41
[Metabolic bone diseases]. 54 61
17882394 2007
42
Novel regulators of phosphate homeostasis and bone metabolism. 54 61
17976082 2007
43
[Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -]. 54 61
17906414 2007
44
[Phosphatonin]. 54 61
17906412 2007
45
Osteomalacia associated with a fibroblast growth factor-23 secreting chest wall tumor. 61 54
17723842 2007
46
Regulation of phosphate homeostasis in infants, children, and adolescents, and the role of phosphatonins in this process. 54 61
17630616 2007
47
A case of phosphaturic mesenchymal tumour (mixed connective tissue variant) that developed in the subcutaneous tissue of a patient with oncogenic osteomalacia and produced fibroblast growth factor 23. 54 61
17489977 2007
48
Role of fibroblast growth factor 23 in phosphate homeostasis and pathogenesis of disordered mineral metabolism in chronic kidney disease. 54 61
17635819 2007
49
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 54 61
17565275 2007
50
Determination of the elimination half-life of fibroblast growth factor-23. 61 54
17374707 2007

Variations for Osteomalacia

Expression for Osteomalacia

Search GEO for disease gene expression data for Osteomalacia.

Pathways for Osteomalacia

GO Terms for Osteomalacia

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.65 SLC34A1 SFRP4 ENPP1 CASR ALPP
2 extracellular space GO:0005615 9.56 SFRP4 PTHLH PTH FGF23 ENPP1 CALCA
3 endoplasmic reticulum lumen GO:0005788 9.46 MEPE FGF23 DMP1 BGLAP
4 extracellular region GO:0005576 9.32 SFRP4 PTHLH PTH MEPE FGF23 ENPP1

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.03 VDR SFRP4 NR1I2 FGF23 CASR
2 cell-cell signaling GO:0007267 9.92 PTHLH PTH PHEX CALCA
3 cellular protein metabolic process GO:0044267 9.92 SLC34A1 MEPE FGF23 DMP1 CALCA
4 cellular calcium ion homeostasis GO:0006874 9.85 VDR PTH CASR CALCA
5 ossification GO:0001503 9.84 SLC34A1 DMP1 CASR BGLAP
6 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.83 PTHLH PTH CALCA
7 osteoblast differentiation GO:0001649 9.82 CYP24A1 BGLAP ALPL
8 bone mineralization GO:0030282 9.8 PTHLH PHEX CYP27B1 BGLAP
9 skeletal system development GO:0001501 9.8 VDR PTHLH PTH PHEX MEPE BGLAP
10 regulation of bone mineralization GO:0030500 9.78 FGF23 ENPP1 CYP27B1 BGLAP
11 cellular response to vitamin D GO:0071305 9.71 PHEX FGF23 CASR BGLAP
12 cellular response to parathyroid hormone stimulus GO:0071374 9.69 SLC34A1 PHEX FGF23
13 cellular phosphate ion homeostasis GO:0030643 9.67 SLC34A3 SLC34A1 FGF23 ENPP1
14 osteoblast development GO:0002076 9.65 PTHLH BGLAP
15 negative regulation of bone mineralization GO:0030502 9.65 FGF23 ENPP1
16 response to growth hormone GO:0060416 9.64 SLC34A1 PHEX
17 response to magnesium ion GO:0032026 9.63 SLC34A1 FGF23
18 vitamin D catabolic process GO:0042369 9.63 FGF23 CYP27B1 CYP24A1
19 phosphate ion transport GO:0006817 9.62 SLC34A3 SLC34A1
20 phosphate ion homeostasis GO:0055062 9.62 SLC34A1 SFRP4 PTH FGF23
21 response to fibroblast growth factor GO:0071774 9.61 PTH CASR
22 vitamin metabolic process GO:0006766 9.61 CYP27B1 CYP24A1
23 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.61 VDR FGF23 CYP27B1
24 response to parathyroid hormone GO:0071107 9.6 SLC34A1 PTH
25 calcitriol biosynthetic process from calciol GO:0036378 9.59 CYP3A4 CYP27B1
26 response to sodium phosphate GO:1904383 9.58 PHEX FGF23
27 vitamin D receptor signaling pathway GO:0070561 9.58 VDR CYP24A1
28 cAMP metabolic process GO:0046058 9.57 PTHLH PTH
29 sodium-dependent phosphate transport GO:0044341 9.56 SLC34A3 SLC34A1
30 vitamin D metabolic process GO:0042359 9.55 VDR FGF23 CYP3A4 CYP27B1 CYP24A1
31 biomineral tissue development GO:0031214 9.43 PHEX MEPE ENPP1 DMP1 BGLAP ALPL
32 response to vitamin D GO:0033280 9.1 PTH PHEX CYP27B1 CYP24A1 BGLAP ALPL

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.06 VDR PHEX NR1I2 ENPP1 CYP3A4 CYP27B1
2 hormone activity GO:0005179 9.61 PTHLH PTH CALCA
3 monooxygenase activity GO:0004497 9.58 CYP3A4 CYP27B1 CYP24A1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.54 CYP3A4 CYP27B1 CYP24A1
5 peptide hormone receptor binding GO:0051428 9.26 PTHLH PTH
6 sodium:phosphate symporter activity GO:0005436 9.16 SLC34A3 SLC34A1
7 alkaline phosphatase activity GO:0004035 8.96 ALPP ALPL
8 vitamin D 24-hydroxylase activity GO:0070576 8.62 CYP3A4 CYP24A1

Sources for Osteomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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