Categories: Bone diseases, Rare diseases

Aliases & Classifications for Osteomalacia

MalaCards integrated aliases for Osteomalacia:

Name: Osteomalacia 12 74 52 54 15 17 71
Adult Rickets 71


External Ids:

Disease Ontology 12 DOID:10573
ICD9CM 34 268.2
NCIt 49 C26838
SNOMED-CT 67 4598005
UMLS 71 C0029442 C3887650

Summaries for Osteomalacia

NIH Rare Diseases : 52 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 Cells and Lineage-specific Markers and Endochondral Ossification. The drugs Dinoprostone and Parathyroid hormone 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 : 74 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 443)
# Related Disease Score Top Affiliating Genes
1 oncogenic osteomalacia 34.0 SFRP4 PTHLH PTH PHEX MEPE FGF23
2 hypophosphatasia, adult 32.7 PTH ENPP1 ALPL
3 hereditary hypophosphatemic rickets 32.6 SLC34A3 SLC34A1
4 hypophosphatasia 32.1 PTH PHEX FGF23 ENPP1 BGLAP ALPP
5 hypophosphatemic rickets, x-linked dominant 30.9 SLC34A3 SLC34A1 SFRP4 PTH PHEX MEPE
6 hypophosphatemic rickets, autosomal dominant 30.9 SLC34A3 SFRP4 PTH PHEX MEPE FGF23
7 autosomal recessive hypophosphatemic rickets 30.9 SLC34A3 SFRP4 PTH PHEX MEPE FGF23
8 fanconi syndrome 30.9 SLC34A3 SLC34A1 PTH PHEX FGF23
9 hypophosphatemic rickets, x-linked recessive 30.9 VDR SLC34A3 SLC34A1 SFRP4 PHEX MEPE
10 raine syndrome 30.7 FGF23 DMP1
11 mammary paget's disease 30.6 PTH CALCA BGLAP
12 paraneoplastic syndromes 30.5 PTHLH FGF23
13 osteonecrosis 30.5 PTH CYP3A4 BGLAP
14 uremia 30.4 VDR PTH ENPP1 CASR
15 osteitis fibrosa 30.2 PTH FGF23 CASR CALCA BGLAP
16 benign giant cell tumor 30.2 FGF23 CALCA BGLAP
17 primary biliary cirrhosis 30.2 VDR NR1I2 CYP3A4 BGLAP ALPP
18 hyperthyroidism 30.2 PTH CALCA BGLAP ALPP
19 osteogenic sarcoma 30.1 VDR PTHLH PTH BGLAP
20 metabolic acidosis 30.1 PTH FGF23 BGLAP
21 osteoblastoma 30.0 SLC34A3 MEPE FGF23 BGLAP
22 paget's disease of bone 30.0 PTH CALCA BGLAP ALPP
23 fibrous dysplasia 30.0 PTHLH FGF23 CALCA BGLAP
24 renal osteodystrophy 30.0 VDR PTH FGF23 CASR CALCA BGLAP
25 chondrocalcinosis 30.0 ENPP1 CASR ALPL
26 calcinosis 29.9 PHEX MEPE FGF23 ENPP1 DMP1 CALCA
27 enthesopathy 29.9 SLC34A3 PHEX MEPE FGF23 ENPP1 DMP1
28 vitamin d-dependent rickets, type 2a 29.8 VDR PHEX CYP27B1
29 calciphylaxis 29.7 VDR PTH FGF23 CASR
30 hypophosphatemia 29.7 VDR SLC34A3 SLC34A1 SFRP4 PTHLH PTH
31 idiopathic hypercalciuria 29.7 VDR SLC34A3 CASR BGLAP
32 kidney disease 29.7 VDR PTH FGF23 ENPP1 CYP27B1 CASR
33 nevus, epidermal 29.6 SLC34A3 PHEX FGF23 ENPP1 DMP1
34 pseudohypoparathyroidism 29.6 PTHLH PTH CALCA BGLAP
35 mccune-albright syndrome 29.6 SLC34A1 PTHLH FGF23 BGLAP ALPP
36 hypophosphatemic rickets with hypercalciuria, hereditary 29.5 SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
37 bone resorption disease 29.5 VDR PTHLH PTH FGF23 CASR CALCA
38 nephrocalcinosis 29.4 SLC34A3 SLC34A1 PTH PHEX FGF23 CYP24A1
39 hyperphosphatemia 29.4 VDR SLC34A1 SFRP4 PTH PHEX FGF23
40 parathyroid adenoma 29.3 VDR PTHLH PTH CASR CALCA BGLAP
41 hyperparathyroidism 29.2 VDR PTHLH PTH PHEX FGF23 CYP27B1
42 chronic kidney disease 29.2 VDR PTH FGF23 ENPP1 CYP27B1 CASR
43 secondary hyperparathyroidism 29.0 VDR PTH PHEX FGF23 CYP27B1 CYP24A1
44 hypoparathyroidism 29.0 VDR PTHLH PTH FGF23 CASR CALCA
45 bone disease 29.0 VDR SLC34A3 PTHLH PTH PHEX FGF23
46 nephrolithiasis 28.9 VDR SLC34A3 SLC34A1 PTH FGF23 CYP24A1
47 primary hyperparathyroidism 28.8 VDR PTHLH PTH FGF23 CYP27B1 CASR
48 rickets 28.7 VDR SLC34A3 SLC34A1 SFRP4 PTH PHEX
49 diabetes mellitus 28.1 VDR PTH FGF23 ENPP1 CYP3A4 CYP27B1
50 osteoporosis 27.9 VDR SLC34A1 PTHLH PTH MEPE FGF23

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

Acute Cystitis Deficiency Anemia

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:

# 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:

45 (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 cellular MP:0005384 10.25 ALPL BGLAP CASR CYP27B1 DMP1 ENPP1
3 homeostasis/metabolism MP:0005376 10.24 ALPL BGLAP CASR CYP24A1 CYP27B1 DMP1
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 DMP1 FGF23
6 immune system MP:0005387 10.13 ALPL BGLAP CASR CYP27B1 DMP1 ENPP1
7 craniofacial MP:0005382 10.1 ALPL CYP27B1 DMP1 ENPP1 PHEX PTH
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 9.7 ALPL BGLAP CYP24A1 CYP27B1 DMP1 FGF23
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 top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Dinoprostone Approved Phase 4 363-24-6 5280360
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
6 Vitamins Phase 4
7 Calciferol Phase 4
8 Hormones Phase 4
9 Calcium, Dietary Phase 4
10 Trace Elements Phase 4
11 Micronutrients Phase 4
12 Nutrients Phase 4
13 Retinol palmitate Phase 4
14 retinol Phase 4
15 Immunoglobulins Phase 4
16 Antibodies Phase 4
17 Antibodies, Monoclonal Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
Teriparatide Approved, Investigational Phase 3 52232-67-4 16133850
Peginterferon alfa-2a Approved, Investigational Phase 2, Phase 3 198153-51-4 5360545
21 interferons Phase 2, Phase 3
22 Antiviral Agents Phase 2, Phase 3
23 Anti-Infective Agents Phase 2, Phase 3
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
Alendronate Approved Phase 2 66376-36-1, 121268-17-5 2088
26 Insulin, Globin Zinc Phase 2
27 insulin Phase 2
28 Immunoglobulins, Intravenous Phase 2
29 Immunologic Factors Phase 2
30 Immunoglobulin G Phase 2
31 Fluorides Phase 2
32 Protective Agents Phase 2
Cinacalcet Approved Phase 1 226256-56-0 156419
34 Mitogens Phase 1
Cimetidine Approved, Investigational 51481-61-9 2756
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
Acetylcholine Approved, Investigational 51-84-3 187
Nitroprusside Approved, Investigational 15078-28-1 11963622
Risedronate Approved, Investigational 105462-24-6 5245
Zoledronic Acid Approved 118072-93-8 68740
Etidronic acid Approved 2809-21-4, 7414-83-7 3305
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
Dimenhydrinate Approved 523-87-5 441281
Phenylalanine Approved, Investigational, Nutraceutical Early Phase 1 63-91-2 6140
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
Calcifediol Approved, Nutraceutical 19356-17-3 5283731 6433735
49 Maxacalcitol Investigational 103909-75-7
Calcitonin gene-related peptide Investigational 83652-28-2

Interventional clinical trials:

(show top 50) (show all 91)
# Name Status NCT ID Phase Drugs
1 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
2 A Multicenter, Post-Approval Clinical Study for Asfotase Alfa (Human Recombinant Tissue-nonspecific Alkaline Phosphatase Fusion Protein) Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
3 A Single Wintertime Dose of Vitamin D3 to Prevent Winter Decline in Vitamin D Concentrations in Healthy Adults: A Pilot Study Completed NCT01924910 Phase 4
4 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
5 Vitamin D Supplementation in Children and Adolescents Seen in the Paediatric Nephrology Service: Study of the Efficacy of Service Usual Care (Cholecalciferol) and Its Impact on Calciuria. Completed NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
6 Prospective Double Blind Multicentre Randomized Trial of Vitamine D Estimating the Profit of a Treatment by Vitamin D3 at the Dose of 100000 UI by Comparison With a Treatment in the Dose of 12 000 UI at Renal Transplanted Patients Completed NCT01431430 Phase 4 Cholecalciferol 100 000 UI;Cholecalciferol 12 000 UI
7 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 Not yet recruiting NCT04320316 Phase 4 Crysvita (burosumab-twza) Treatment
8 A Pilot Study to Evaluate the Effect of Forsteo (Teriparatide, 1-34-rh-PTH) in Anorexia Nervosa Patients With Low Bone Mineral Density and Increased Bone Fagility (FAN-Trial) Unknown status NCT01801397 Phase 3 osteoanabolic therapy
9 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
10 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
11 An Open-Label, Multicenter, Multinational Study of the Safety, Efficacy and Pharmacokinetics of Asfotase Alfa (Human Recombinant Tissue-nonspecific Alkaline Phosphatase Fusion Protein) in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Completed NCT01176266 Phase 2, Phase 3 asfotase alfa
12 Can Vitamin D Supplementation Improve Hepatitis C Cure Rates : A Pilot Multicentre Randomised Controlled Clinical Trial Completed NCT02053519 Phase 3 Active Comparator: Vigantol Oil (Vitamin D3);Mygliol Oil
13 A Phase 3 Long-term Extension Study of KRN23 in Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT04308096 Phase 3 KRN23
14 Randomised Control Study for Inactive Chronic Hepatitis B Patients With Low Viral Load, With Peg-Interferon (INACTIVE) Active, not recruiting NCT02992704 Phase 2, Phase 3 Peginterferon Alfa-2A
15 The Prevalence of Vitamin D Deficiency and Effects of Vitamin D Supplementation in HIV-1 Infected Patients Unknown status NCT00306410 Phase 2 colecalciferol
16 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Completed NCT03510455 Phase 2 BGJ398
17 Long-Term Effects of Giving Nursing-Home Residents Bread Fortified With 125 Micrograms (5000 IU) Vitamin D3 Per Daily Serving Completed NCT00789503 Phase 1, Phase 2
18 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
19 Extension Study of ENB-0040 (Human Recombinant Tissue-Nonspecific Alkaline Phosphatase Fusion Protein) in Severely Affected Infants and Young Children With Hypophosphatasia (HPP) Completed NCT01205152 Phase 2
20 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
21 Combination Osteogenic Therapy in Established Osteoporosis Completed NCT00018447 Phase 2 PTH 1-34;MFPSR-fluoride
22 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
23 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
24 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
25 Multicentered, Randomized Study of Safety and Efficacy of Whole-body Vibration as add-on to Standard Pharmacological Treatment of Osteoporosis in Post-menopausal Women Completed NCT01415050 Phase 2
26 68Ga-DOTATATE PET for Localization of Phosphaturic Mesenchymal Tumors in Patients With Tumor Induced Osteomalacia Recruiting NCT03736564 Phase 1, Phase 2
27 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 Active, not recruiting NCT02304367 Phase 2
28 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
29 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
30 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
31 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
32 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
33 68Ga-DOTATATE PET/CT for Detection and Evaluation of the Causative Tumor of Oncogenic Osteomalacia Unknown status NCT01524016 Early Phase 1 68Ga-DOTATATE
34 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
35 Molecular Pathways Involved in the Pathogenesis and Behavior of Mesenchymal Phosphaturic Tumors Unknown status NCT02331966
36 Vitamin D Level and Risk of Infections in Cirrhotic Patients: Does it Have a Role? Unknown status NCT03391245
37 Empirical Comperative Study Of Variation Blood Level Antibody Vitamin D at Different Groups Of Patients Compared Healthy Peoples And The Correlation Between Vitamin D Level Unknown status NCT02795234
38 Osteoporosis in Egypt: Screening Tools' Re-validation and a Local Guide for the Management of the Condition in Males Unknown status NCT03513107
39 The Association of Serum Sclerostin Levels,Echocardiographic Parameters, Arteriovenous Fistula Thrombosis and Carpal Tunnel Syndrome in Maintenance Hemodialysis Patients Unknown status NCT01382966
40 Effects of Low Level Laser Therapy on Functional Capacity and DNA Damage of Patients With Chronic Kidney Failure on Hemodialysis: Randomized Clinical Trial Unknown status NCT03250715
41 Assessment of Nutritional Consequences of Sleeve Gastrectomy Unknown status NCT01475903
42 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
43 Effects Of Vitamin D Replacement Therapy on Serum FGF-23 Concentrations in Vitamin D Deficient Women In Short Term Completed NCT01102751
44 Selective Venous Catheterization for the Localization of Phosphaturic Mesenchymal Tumors Completed NCT00099762
45 The Impact of Severe Vitamin D Deficiency and Its Correction on Bone Mineral Density (BMD) in Postmenopausal Women Completed NCT01694355 Vitamin D
46 A Retrospective, Non-interventional Epidemiologic Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP) Completed NCT01419028
47 A Retrospective, Non-interventional, Epidemiologic Study of the Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP) Completed NCT02104219
48 Effect of Different Vitamin D Preparations on Circulating FGF23 Levels in Vitamin D Deficient Caucasian and African-American Men and Women Completed NCT00957879
49 Vitamin D Status in the First 9 Months of Life Completed NCT02548520
50 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

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:


MalaCards organs/tissues related to Osteomalacia:

Bone, Kidney, Liver, Testes, Prostate, Skin, Bone Marrow

Publications for Osteomalacia

Articles related to Osteomalacia:

(show top 50) (show all 4945)
# Title Authors PMID Year
[Bone and joint diseases in children. Phosphaturic hormone, FGF23, and bone metabolism]. 54 61
20513948 2010
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
Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism. 61 54
19669798 2010
Phosphorylation-dependent inhibition of mineralization by osteopontin ASARM peptides is regulated by PHEX cleavage. 61 54
19775205 2010
[Disorders of phosphate metabolism]. 61 54
20408440 2010
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
Physiological role of alkaline phosphatase explored in hypophosphatasia. 61 54
20392236 2010
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
MEPE's diverse effects on mineralization. 54 61
19998030 2010
Bone turnover and the osteoprotegerin-RANKL pathway in tumor-induced osteomalacia: a longitudinal study of five cases. 61 54
19763378 2009
Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. 54 61
19555782 2009
Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. 61 54
19581284 2009
RT-PCR analysis for FGF23 using paraffin sections in the diagnosis of phosphaturic mesenchymal tumors with and without known tumor induced osteomalacia. 61 54
19609206 2009
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. 54 61
19609735 2009
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. 54 61
19335222 2009
FGF23 elevation and hypophosphatemia after intravenous iron polymaltose: a prospective study. 61 54
19366850 2009
Emerging topics in pediatric bone and mineral disorders 2008. 54 61
19615558 2009
Relation between fibroblast growth factor-23, body weight and bone mineral density in elderly men. 61 54
18974917 2009
[Clinical aspect of recent progress in phosphate metabolism. Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23)]. 54 61
19483276 2009
Oncogenic osteomalacia: two case reports with surprisingly different outcomes. 54 61
19125258 2009
Fibroblast growth factor 23 (FGF23) and the kidney. 54 61
19569031 2009
Tumor-induced osteomalacia: a case report. 61 54
19578602 2009
Effects of tumor-induced osteomalacia on the bone mineralization process. 54 61
19219382 2009
Iron polymaltose-induced FGF23 elevation complicated by hypophosphataemic osteomalacia. 54 61
19151167 2009
Fibroblast Growth Factor 23 (FGF23) and Disorders of Phosphate Metabolism. 61 54
19956747 2009
Klotho gene, phosphocalcic metabolism, and survival in dialysis. 54 61
19121771 2009
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. 54 61
19158050 2008
Clinical impact of somatostatin receptor scintigraphy in the management of tumor-induced osteomalacia. 61 54
18936605 2008
Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. 54 61
18288501 2008
Rapid detection of intact FGF-23 in tumor tissue from patients with oncogenic osteomalacia. 61 54
18593970 2008
Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. 61 54
18396126 2008
Preoperative tumor localization by means of venous sampling for fibroblast growth factor-23 in a patient with tumor-induced osteomalacia. 61 54
18463045 2008
Tumor-induced osteomalacia: lessons learned. 61 54
18311810 2008
Generation of a conditional null allele for Dmp1 in mouse. 61 54
18257058 2008
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. 61 54
18172553 2008
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
Sporadic adult-onset hypophosphatemic osteomalacia caused by excessive action of fibroblast growth factor 23. 61 54
18310982 2008
Tumor-induced hypophosphatemic osteomalacia diagnosed by the combinatory procedures of magnetic resonance imaging and venous sampling for FGF23. 61 54
18480582 2008
Development of tumor-induced osteomalacia in a subcutaneous tumor, defined by venous blood sampling of fibroblast growth factor-23. 61 54
18379151 2008
Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro. 61 54
17699549 2007
Novel regulators of phosphate homeostasis and bone metabolism. 61 54
17976082 2007
[Phosphatonin]. 54 61
17906412 2007
[Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -]. 54 61
17906414 2007
[Metabolic bone diseases]. 54 61
17882394 2007
Osteomalacia associated with a fibroblast growth factor-23 secreting chest wall tumor. 61 54
17723842 2007
Regulation of phosphate homeostasis in infants, children, and adolescents, and the role of phosphatonins in this process. 54 61
17630616 2007
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 54 61
17565275 2007
Role of fibroblast growth factor 23 in phosphate homeostasis and pathogenesis of disordered mineral metabolism in chronic kidney disease. 61 54
17635819 2007
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
[Fibroblast growth factor (FGF) 23 works as a phosphate-regulating hormone and is involved in the pathogenesis of several disorders of phosphate metabolism]. 61 54
17657990 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 extracellular space GO:0005615 9.76 SFRP4 PTHLH PTH FGF23 ENPP1 CALCA
2 extracellular region GO:0005576 9.65 SFRP4 PTHLH PTH MEPE FGF23 ENPP1
3 endoplasmic reticulum lumen GO:0005788 9.56 MEPE FGF23 DMP1 BGLAP
4 cell GO:0005623 9.23 VDR SLC34A3 SLC34A1 PTH FGF23 ENPP1

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.92 PTHLH PTH PHEX CALCA
2 cellular protein metabolic process GO:0044267 9.92 SLC34A1 MEPE FGF23 DMP1 CALCA
3 skeletal system development GO:0001501 9.87 VDR PTHLH PTH PHEX MEPE BGLAP
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 9.81 CYP24A1 BGLAP ALPL
8 bone mineralization GO:0030282 9.8 PTHLH PHEX CYP27B1 BGLAP
9 regulation of bone mineralization GO:0030500 9.78 FGF23 ENPP1 CYP27B1 BGLAP
10 cellular response to vitamin D GO:0071305 9.71 PHEX FGF23 CASR BGLAP
11 cellular response to parathyroid hormone stimulus GO:0071374 9.69 SLC34A1 PHEX FGF23
12 cellular phosphate ion homeostasis GO:0030643 9.67 SLC34A3 SLC34A1 FGF23 ENPP1
13 osteoblast development GO:0002076 9.65 PTHLH BGLAP
14 positive regulation of keratinocyte differentiation GO:0045618 9.65 VDR CYP27B1
15 negative regulation of bone mineralization GO:0030502 9.64 FGF23 ENPP1
16 response to growth hormone GO:0060416 9.63 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 response to fibroblast growth factor GO:0071774 9.61 PTH CASR
21 vitamin metabolic process GO:0006766 9.61 CYP27B1 CYP24A1
22 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.61 VDR FGF23 CYP27B1
23 response to parathyroid hormone GO:0071107 9.6 SLC34A1 PTH
24 calcitriol biosynthetic process from calciol GO:0036378 9.59 CYP3A4 CYP27B1
25 response to sodium phosphate GO:1904383 9.58 PHEX FGF23
26 vitamin D receptor signaling pathway GO:0070561 9.58 VDR CYP24A1
27 cAMP metabolic process GO:0046058 9.57 PTHLH PTH
28 sodium-dependent phosphate transport GO:0044341 9.56 SLC34A3 SLC34A1
29 phosphate ion homeostasis GO:0055062 9.56 SLC34A1 SFRP4 PTH FGF23
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 10.11 VDR PHEX NR1I2 ENPP1 CYP3A4 CYP27B1
2 hormone activity GO:0005179 9.65 PTHLH PTH CALCA
3 monooxygenase activity GO:0004497 9.61 CYP3A4 CYP27B1 CYP24A1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.58 CYP3A4 CYP27B1 CYP24A1
5 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 9.46 VDR NR1I2
6 peptide hormone receptor binding GO:0051428 9.32 PTHLH PTH
7 sodium:phosphate symporter activity GO:0005436 9.26 SLC34A3 SLC34A1
8 alkaline phosphatase activity GO:0004035 9.16 ALPP ALPL
9 vitamin D 24-hydroxylase activity GO:0070576 8.96 CYP3A4 CYP24A1
10 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A3 SLC34A1

Sources for Osteomalacia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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