Categories: Bone diseases, Metabolic diseases

Aliases & Classifications for Hypophosphatemia

MalaCards integrated aliases for Hypophosphatemia:

Name: Hypophosphatemia 12 29 54 6 43 15 71


External Ids:

Disease Ontology 12 DOID:0050336
MeSH 43 D017674
UMLS 71 C0085682

Summaries for Hypophosphatemia

Disease Ontology : 12 A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.

MalaCards based summary : Hypophosphatemia is related to dominant hypophosphatemia with nephrolithiasis or osteoporosis and hereditary hypophosphatemic rickets. An important gene associated with Hypophosphatemia is ALPL (Alkaline Phosphatase, Biomineralization Associated), and among its related pathways/superpathways are Mineral absorption and Parathyroid hormone synthesis, secretion and action. The drugs Iron and Iron isomaltoside 1000 have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and liver, and related phenotypes are growth/size/body region and cardiovascular system

Wikipedia : 74 Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood.... more...

Related Diseases for Hypophosphatemia

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

(show top 50) (show all 385)
# Related Disease Score Top Affiliating Genes
1 dominant hypophosphatemia with nephrolithiasis or osteoporosis 34.3 SLC9A3R1 SLC34A1
2 hereditary hypophosphatemic rickets 34.0 SLC34A3 SLC34A1
3 hypophosphatemic rickets with hypercalciuria, hereditary 32.3 SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
4 hypophosphatemic rickets, x-linked dominant 32.3 SLC34A3 SLC34A1 PTH PHEX MEPE KL
5 nephrolithiasis/osteoporosis, hypophosphatemic, 1 32.2 SLC34A3 SLC34A1 PTH PHEX KL FGF23
6 hypophosphatemic rickets, autosomal dominant 32.0 SLC34A3 SFRP4 PTH PHEX MEPE KL
7 oncogenic osteomalacia 31.5 SFRP4 PTHLH PTH PHEX MEPE FGF23
8 metaphyseal chondrodysplasia, jansen type 31.1 SLC9A3R1 SLC34A3 PTHLH PTH PHEX KL
9 hypophosphatemic rickets, x-linked recessive 31.0 VDR SLC34A3 SLC34A1 SFRP4 PHEX MEPE
10 enthesopathy 30.7 SLC34A3 PHEX FGF23 ENPP1 DMP1
11 tumoral calcinosis, hyperphosphatemic, familial, 1 30.6 SLC34A3 PTH PHEX MEPE KL FGF23
12 metabolic acidosis 30.5 PTH FGF23 BGLAP ALB
13 autosomal recessive hypophosphatemic rickets 30.5 SLC34A3 SFRP4 PTH PHEX MEPE KL
14 raine syndrome 30.4 FGF23 FAM20C DMP1
15 end stage renal failure 30.3 PTH ENPP1 BGLAP ALB
16 familial tumoral calcinosis 30.2 PHEX KL FGF23
17 fibrous dysplasia 30.2 PTHLH FGF23 BGLAP
18 ankylosis 30.2 FGFR1 ENPP1 BGLAP
19 osteitis fibrosa 30.2 PTH FGF23 BGLAP
20 fanconi syndrome 30.1 SLC34A3 SLC34A1 PTH PHEX FGF23 CLCN5
21 mccune-albright syndrome 30.0 SLC34A1 PTHLH FGF23 BGLAP
22 hyperostosis 30.0 KL FGF23 ALPL
23 autosomal dominant polycystic kidney disease 29.9 SLC9A3R1 KL FGF23 ALB
24 dental pulp necrosis 29.8 MEPE DSPP DMP1 BGLAP
25 hypercalciuria, absorptive, 2 29.7 VDR SLC34A3 CLCN5
26 nephrocalcinosis 29.7 SLC34A3 SLC34A1 PTH PHEX FGF23 FAM20C
27 hypophosphatasia 29.7 PTH PHEX ENPP1 DSPP ALPL
28 calcinosis 29.6 PTH PHEX MEPE KL FGF23 ENPP1
29 vitamin d-dependent rickets, type 2a 29.6 VDR PHEX
30 brittle bone disorder 29.4 PTH MEPE DSPP BGLAP ALPL
31 nevus, epidermal 29.4 SLC34A3 PHEX MEPE FGFR1 FGF23 ENPP1
32 glucocorticoid-induced osteoporosis 29.4 VDR PTH BGLAP
33 arterial calcification of infancy 29.4 SLC34A3 PHEX KL FGF23 ENPP1 DMP1
34 dental caries 29.3 VDR DSPP DMP1 ALB
35 kidney disease 29.3 VDR PTH FGF23 ENPP1 CLCN5 BGLAP
36 secondary hyperparathyroidism 29.2 VDR PTH PHEX KL FGF23 BGLAP
37 rickets 29.1 VDR SLC34A3 SLC34A1 PTH PHEX MEPE
38 hyperphosphatemia 29.1 VDR SLC34A1 SFRP4 PTH PHEX KL
39 hypoparathyroidism 29.1 VDR PTHLH PTH FGF23 BGLAP
40 uremia 29.0 VDR PTH ENPP1 ALB
41 hyperparathyroidism 28.9 VDR PTHLH PTH PHEX KL FGF23
42 chronic kidney disease 28.8 VDR PTH KL FGF23 ENPP1 BGLAP
43 parathyroid adenoma 28.7 VDR PTHLH PTH BGLAP
44 bone disease 28.6 VDR SLC34A3 PTHLH PTH PHEX FGFR1
45 primary hyperparathyroidism 28.5 VDR PTHLH PTH KL FGF23 BGLAP
46 bone resorption disease 28.5 VDR PTHLH PTH KL FGF23 BGLAP
47 osteomalacia 27.5 VDR SLC34A3 SLC34A1 SFRP4 PTHLH PTH
48 nephrolithiasis, calcium oxalate 27.4 VDR SLC9A3R1 SLC34A3 SLC34A1 PTHLH PTH
49 osteoporosis 27.0 VDR SLC9A3R1 SLC34A1 PTHLH PTH MEPE
50 cutaneous-skeletal hypophosphatemia syndrome 12.5

Graphical network of the top 20 diseases related to Hypophosphatemia:

Diseases related to Hypophosphatemia

Symptoms & Phenotypes for Hypophosphatemia

MGI Mouse Phenotypes related to Hypophosphatemia:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.35 ALPL CLCN5 DMP1 ENPP1 FAM20C FGF23
2 cardiovascular system MP:0005385 10.33 ALB ALPL DMP1 ENPP1 FGF23 FGFR1
3 cellular MP:0005384 10.31 ALB ALPL CLCN5 DMP1 ENPP1 FAM20C
4 homeostasis/metabolism MP:0005376 10.31 ALB ALPL CLCN5 DMP1 ENPP1 FAM20C
5 digestive/alimentary MP:0005381 10.29 ALB ALPL FAM20C FGF23 FGFR1 KL
6 craniofacial MP:0005382 10.26 ALPL CLCN5 DMP1 ENPP1 FAM20C FGFR1
7 endocrine/exocrine gland MP:0005379 10.24 ALB ALPL DMP1 FAM20C FGF23 FGFR1
8 hematopoietic system MP:0005397 10.21 ALPL DMP1 FAM20C FGF23 FGFR1 KL
9 immune system MP:0005387 10.21 ALB ALPL DMP1 ENPP1 FAM20C FGF23
10 limbs/digits/tail MP:0005371 10.1 ALPL DMP1 ENPP1 FAM20C FGF23 FGFR1
11 mortality/aging MP:0010768 10.1 ALB ALPL ENPP1 FAM20C FGF23 FGFR1
12 renal/urinary system MP:0005367 10.03 ALB CLCN5 DMP1 ENPP1 FAM20C FGF23
13 hearing/vestibular/ear MP:0005377 9.93 ENPP1 FAM20C FGFR1 KL PHEX VDR
14 reproductive system MP:0005389 9.7 ALPL DMP1 FAM20C FGF23 FGFR1 KL
15 skeleton MP:0005390 9.55 ALPL CLCN5 DMP1 ENPP1 FAM20C FGF23

Drugs & Therapeutics for Hypophosphatemia

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

(show top 50) (show all 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
5 Vasoconstrictor Agents Phase 4
6 Calciferol Phase 4
7 Pharmaceutical Solutions Phase 4
8 Hematinics Phase 4
9 Ferric Compounds Phase 4
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
Sevelamer Approved Phase 3 52757-95-6
Cinacalcet Approved Phase 3 226256-56-0 156419
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
18 Ergocalciferols Phase 3
19 Vitamin D2 Phase 3
20 Antibodies, Monoclonal Phase 3
21 Immunologic Factors Phase 3
22 Immunoglobulins Phase 3
23 Antibodies Phase 3
24 Trace Elements Phase 3
25 Vitamins Phase 3
26 Micronutrients Phase 3
27 Nutrients Phase 3
28 Chelating Agents Phase 3
29 Hormones Phase 3
30 Calcium, Dietary Phase 3
31 Hormone Antagonists Phase 3
32 Calcimimetic Agents Phase 3
33 Vasodilator Agents Phase 3
34 Hypolipidemic Agents Phase 3
35 Vitamin B Complex Phase 3
36 Vitamin B3 Phase 3
37 Folate Phase 3
38 Vitamin B9 Phase 3
39 Nicotinic Acids Phase 3
40 Antimetabolites Phase 3
41 Lipid Regulating Agents Phase 3
42 Protective Agents Phase 2
43 potassium phosphate Phase 2
44 Cariostatic Agents Phase 2
45 Dextrans Phase 2
46 Plasma Substitutes Phase 2
47 Blood Substitutes Phase 2
48 Iron-Dextran Complex Phase 2
49 Mitogens Phase 2
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239 406563

Interventional clinical trials:

(show top 50) (show all 80)
# Name Status NCT ID Phase Drugs
1 Comparing the Effectiveness of High or Low Dose of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia Recruiting NCT03820518 Phase 4 Calcitriol
2 A Randomized, Double-blinded, Comparative Trial Comparing the Incidence of Hypophosphatemia in Relation to Repeated Treatment Courses of Iron Isomaltoside and Ferric Carboxymaltose in Subjects With Iron Deficiency Anaemia Due to Inflammatory Bowel Disease Recruiting NCT03466983 Phase 4 Iron Isomaltoside;Ferric Carboxymaltose
3 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
4 A Randomized, Double-blind Comparative Study Comparing Ferric Carboxymaltose (Ferinject) and Iron Isomaltoside 1000 (Monofer) for Iron Substitution in Iron-deficiency Anemia Active, not recruiting NCT02905539 Phase 4 Iron Isomaltoside 1000;Ferric Carboxymaltose
5 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
6 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study With Open-Label Extension to Assess the Efficacy and Safety of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
7 A Randomized, Open-Label, Phase 3 Study to Assess the Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Completed NCT02915705 Phase 3 oral phosphate;active vitamin D
8 A Randomized, Open-label, Comparative Trial Comparing the Incidence of Hypophosphatemia in Relation to Treatment With Iron Isomaltoside and Ferric Carboxymaltose in Subjects With Iron Deficiency Anaemia (IDA-04) Completed NCT03238911 Phase 3 Iron isomaltoside (Monofer);Ferric carboxymaltose
9 A Randomized, Open-label, Comparative Trial Comparing the Incidence of Hypophosphatemia in Relation to Treatment With Iron Isomaltoside and Ferric Carboxymaltose in Subjects With Iron Deficiency Anaemia (IDA-05) Completed NCT03237065 Phase 3 Iron Isomaltoside (Monofer);Ferric carboxymaltose
10 A Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Using Cinacalcet to Correct Hypercalcemia in Renal Transplant Recipients With Autonomous Hyperparathyroidism Completed NCT00975000 Phase 3 Cinacalcet;Placebo
11 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
12 Randomized Controlled Trial of a Reduced Carbohydrate Formulation of F75 Therapeutic Milk Among Children With Severe Acute Malnutrition Completed NCT02246296 Phase 2, Phase 3
13 A Phase 3b Open-label Study of the Anti-FGF23 Antibody, Burosumab (KRN23) in Adult Patients With X-linked Hypophosphatemia (XLH) Recruiting NCT03920072 Phase 3 Burosumab
14 An Open Label Trial to Assess the Safety and Efficacy of Burosumab (KRN23), an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome(ENS) and Associated Hypophosphatemic Rickets Active, not recruiting NCT03581591 Phase 3
15 Comparison of Nicotinamide and Sevelamer Hydrochloride on Phosphatemia Control on Chronic Hemodialysed Patients Terminated NCT01011699 Phase 3 nicotinamide;sevelamer;cinacalcet
16 Oral Potassium Acid Phosphate Supplementation for Preterm Neonates; a Comparison of Oral Thin Films and Standard Oral Therapy. Unknown status NCT01676844 Phase 2 Oral thin film therapy (Potassium acid phosphate oral thin films);Standard therapy (Potassium acid phosphate oral solution)
17 An Open-Label, Long-Term, Extension Study to Evaluate the Safety and Efficacy of KRN23 in Adult Subjects With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
18 An Open-Label, Phase 2 Study to Assess the Safety, Pharmacodynamics, and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Completed NCT02750618 Phase 2
19 A Phase I/II, Open-Label, Repeat-Dose, Dose-Escalation Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
20 A Randomized, Open-Label, Dose Finding, Phase 2 Study to Assess the Pharmacodynamics and Safety of the Anti-FGF23 Antibody, KRN23, in Pediatric Patients With X-linked Hypophosphatemia (XLH) Completed NCT02163577 Phase 2
21 A Randomized, Controlled Study to Investigate the Safety and Explore the Mechanism of Hypophosphatemia With Intravenous Ferric Carboxymaltose (FCM) Versus Iron Dextran in Women With Iron Deficiency Secondary to Heavy Uterine Bleeding Completed NCT01307007 Phase 2 Ferric Carboxymaltose (FCM);Iron Dextran Injection
22 A Phase 2b, Open-Label, Long-Term Extension Study to Evaluate the Safety and Pharmacodynamics of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Completed NCT02312687 Phase 2
23 Intravenous Iron in paTients With Heart failURe and Reduced Ejection fracTion (HFREF) pLus Iron dEficiency: Effects Upon Phosphate and FGF23 Metabolism Completed NCT03079518 Phase 2 Ferric Carboxymaltose
24 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Recruiting NCT03510455 Phase 2 BGJ398
25 Safety, Tolerability and Efficacy of Regorafenib in Combination With FOLFIRINOX in Patients With RAS-mutated Metastatic Colorectal Cancer: a Dose-escalation, Phase I/II Trial Recruiting NCT03828799 Phase 1, Phase 2
26 A Phase 1/2, Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Pediatric Patients From Birth to Less Than 1 Year of Age With X-linked Hypophosphatemia (XLH) Not yet recruiting NCT04188964 Phase 1, Phase 2 Burosumab
27 A Phase I, Double-blind, Randomized, Placebo-controlled, Single-dose, Dose-escalation Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
28 The Effect of Oral Niacinamide on Serum Phosphorus Levels in Hemodialysis Patients Completed NCT00316472 Phase 1 Niacinamide
29 A Three Week Dose Escalation Study of PTHrP(1-36) in Postmenopausal Women Completed NCT00222872 Phase 1 Parathyroid Hormone-related Protein;Placebo
30 Phase I Study of Intra-peritoneal Cantrixil in Patients With Persistent or Recurrent Ovarian Cancer, Fallopian Tube Cancer or Primary Peritoneal Cancer. Active, not recruiting NCT02903771 Phase 1 Part A: Dose Escalation of Cantrixil;Part B: Expansion Cohort of Cantrixil
31 Mechanistic Evaluations on Sorafenib Induced Hypophosphatemia in Patients With Advanced Renal Cell Carcinoma Terminated NCT00622479 Phase 1 Sorafenib (Nexavar, BAY43-9006)
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 A Dose Escalation Study of Sorafenib (BAY 43-9006, NSC 724772) in Nomotensive Patients With Advanced Malignancies Terminated NCT00436579 Phase 1 sorafenib tosylate
34 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
35 Using Cinacalcet to Treat the Hypophosphatemia of Early Kidney Transplant Unknown status NCT01011114 Cinacalcet;Placebo
36 Perspective Evaluation of Hormones Involved in Serum Phosphate Homeostasis in Patients With Metastatic Renal Cells Carcinoma or Hepatocellular Carcinoma Treated With Sorafenib. Multicenter Cohort Study Unknown status NCT01230697 Sorafenib
37 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
38 68Ga-DOTATATE PET/CT for Detection and Evaluation of the Causative Tumor of Oncogenic Osteomalacia Unknown status NCT01524016 Early Phase 1 68Ga-DOTATATE
39 A Cross-Sectional Study To Investigate The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
40 The Physiological and Cardiovascular Effects of Empagliflozine in Type 2 Diabetes Unknown status NCT02918591 Empagliflozine
41 Evaluation of Hypophosphatemia as a Predictive Marker of Mortality During Sepsis in ICU Completed NCT03529058
42 Evaluation of Hypophosphatemia as a Predictor of Sepsis in Surgical Resuscitation Units. Completed NCT03740802
43 Evaluation of FGF-23 Suppressibility by Calcitonin in Healthy Men - Pilot Study Completed NCT00688077 Calcitonin;Placebo
44 Does Intravenous Iron Therapy Decrease Serum Phosphorous and Vitamin D Levels in Patients With and Without Chronic Renal Failure? Completed NCT02420119
45 Effect of Different Vitamin D Preparations on Circulating FGF23 Levels in Vitamin D Deficient Caucasian and African-American Men and Women Completed NCT00957879
46 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
47 The Effect of Magnesium Therapy to Prevent Post-operative Atrial Fibrillation After Cardiac Surgery in Adults, Concerning the Perioperative Changes in Serum Electrolytes Completed NCT02928315 Magnesium Sulfate
48 Studies in Phosphorus Metabolism Completed NCT00066183
49 Effect of Imatinib on Bone Metabolism in Patients With Chronic Myelogenous Leukemia or Gastrointestinal Stromal Tumors. Completed NCT00580281
50 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Completed NCT02233322

Search NIH Clinical Center for Hypophosphatemia

Inferred drug relations via UMLS 71 / NDF-RT 50 :

Dibasic potassium phosphate
dibasic sodium phosphate heptahydrate
Monobasic potassium phosphate
potassium phosphate
sodium phosphate
Sodium Phosphate, Dibasic
Sodium Phosphate, Monobasic
Tribasic Sodium Phosphate

Cochrane evidence based reviews: hypophosphatemia

Genetic Tests for Hypophosphatemia

Genetic tests related to Hypophosphatemia:

# Genetic test Affiliating Genes
1 Hypophosphatemia 29

Anatomical Context for Hypophosphatemia

MalaCards organs/tissues related to Hypophosphatemia:

Bone, Kidney, Liver, Prostate, Heart, Lung, Bone Marrow

Publications for Hypophosphatemia

Articles related to Hypophosphatemia:

(show top 50) (show all 3453)
# 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
Recent advances in renal phosphate handling. 54 61
20177401 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
Oral phosphate supplementation corrects hypophosphatemia and normalizes plasma FGF23 and 25-hydroxyvitamin D3 levels in women with chronic metabolic acidosis. 61 54
19449283 2010
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. 61 54
19796717 2010
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor. 61 54
19815438 2010
Nuclear isoforms of fibroblast growth factor 2 are novel inducers of hypophosphatemia via modulation of FGF23 and KLOTHO. 61 54
19933269 2010
In vivo genetic evidence for suppressing vascular and soft-tissue calcification through the reduction of serum phosphate levels, even in the presence of high serum calcium and 1,25-dihydroxyvitamin d levels. 54 61
20031638 2009
The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. 54 61
19808223 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
Hypophosphatemia-mediated hypotension in transgenic mice overexpressing human FGF-23. 61 54
19684183 2009
Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy. 61 54
19523546 2009
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. 61 54
19609735 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
Mechanisms of renal phosphate loss in liver resection-associated hypophosphatemia. 61 54
19387319 2009
Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. 54 61
19049339 2009
Tumor-induced osteomalacia: a case report. 54 61
19578602 2009
Effects of tumor-induced osteomalacia on the bone mineralization process. 54 61
19219382 2009
[Rickets]. 61 54
19122271 2009
Klotho gene, phosphocalcic metabolism, and survival in dialysis. 61 54
19121771 2009
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia. 54 61
18854401 2009
FGF-23 Levels before and after Renal Transplantation. 54 61
20107581 2009
Phosphatemic effect of cinacalcet in kidney transplant recipients with persistent hyperparathyroidism. 61 54
18950915 2008
Recovery of hyperphosphatoninism and renal phosphorus wasting one year after successful renal transplantation. 54 61
18922992 2008
Clinical impact of somatostatin receptor scintigraphy in the management of tumor-induced osteomalacia. 61 54
18936605 2008
A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3. 54 61
18996815 2008
Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. 54 61
18288501 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
FGF23 is elevated in Gambian children with rickets. 54 61
18234575 2008
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. 61 54
18172553 2008
A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. 61 54
17710565 2008
Sporadic adult-onset hypophosphatemic osteomalacia caused by excessive action of fibroblast growth factor 23. 54 61
18310982 2008
Bone mass does not correlate with the serum fibroblast growth factor 23 in hemodialysis patients. 61 54
17943081 2008
Tumor-induced hypophosphatemic osteomalacia diagnosed by the combinatory procedures of magnetic resonance imaging and venous sampling for FGF23. 54 61
18480582 2008
Elevated fibroblast growth factor 23 in a patient with metastatic prostate cancer and hypophosphatemia. 54 61
18037105 2007
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. 54 61
17976082 2007
[Physiological function of osteocytes]. 54 61
17906408 2007
[Pathophysiology in rickets/osteomalacia]. 61 54
17906401 2007
Regulatory mechanisms of circulating fibroblast growth factor 23 in parathyroid diseases. 61 54
17976083 2007
Persistent high level of fibroblast growth factor 23 as a cause of post-renal transplant hypophosphatemia. 61 54
17891358 2007
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 61 54
17565275 2007
Role of fibroblast growth factor 23 in phosphate homeostasis and pathogenesis of disordered mineral metabolism in chronic kidney disease. 54 61
17635819 2007
Cinacalcet in the management of tumor-induced osteomalacia. 61 54
17352646 2007
Tertiary 'hyperphosphatoninism' accentuates hypophosphatemia and suppresses calcitriol levels in renal transplant recipients. 54 61
17359508 2007
FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. 61 54
17227222 2007
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. 61 54
17033625 2006

Variations for Hypophosphatemia

ClinVar genetic disease variations for Hypophosphatemia:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALPL NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His)indel Pathogenic/Likely pathogenic 188877 rs786204530 1:21889705-21889706 1:21563212-21563213
2 SLC9A3R1 NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys)SNV Likely benign 5272 rs119486097 17:72759575-72759575 17:74763436-74763436

Expression for Hypophosphatemia

Search GEO for disease gene expression data for Hypophosphatemia.

Pathways for Hypophosphatemia

GO Terms for Hypophosphatemia

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

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.91 VDR SLC9A3R1 SLC34A3 SLC34A1 PTH FGF23
2 extracellular space GO:0005615 9.85 SFRP4 PTHLH PTH KL FGF23 FAM20C
3 extracellular matrix GO:0031012 9.71 MEPE DSPP DMP1 ALPL
4 vesicle GO:0031982 9.56 SLC9A3R1 SLC34A3 SLC34A1 BGLAP
5 brush border membrane GO:0031526 9.5 SLC9A3R1 SLC34A3 SLC34A1
6 extracellular region GO:0005576 9.47 SFRP4 PTHLH PTH MEPE KL FGFR1
7 endoplasmic reticulum lumen GO:0005788 9.43 MEPE FGF23 FAM20C DMP1 BGLAP ALB

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 10 MEPE FGF23 FAM20C DMP1 ALB
2 cellular protein metabolic process GO:0044267 9.91 SLC34A1 MEPE FGF23 FAM20C DMP1 ALB
3 ossification GO:0001503 9.81 SLC34A1 DSPP DMP1 BGLAP
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.79 KL FGFR1 FGF23
5 bone mineralization GO:0030282 9.77 PTHLH PHEX BGLAP
6 positive regulation of bone mineralization GO:0030501 9.75 PTH KL FAM20C
7 regulation of bone mineralization GO:0030500 9.67 FGF23 ENPP1 BGLAP
8 osteoblast development GO:0002076 9.65 PTHLH BGLAP
9 cellular response to vitamin D GO:0071305 9.65 PHEX FGF23 BGLAP
10 negative regulation of bone mineralization GO:0030502 9.64 FGF23 ENPP1
11 response to growth hormone GO:0060416 9.64 SLC34A1 PHEX
12 vitamin D metabolic process GO:0042359 9.63 VDR FGF23
13 response to magnesium ion GO:0032026 9.63 SLC34A1 FGF23
14 cellular response to parathyroid hormone stimulus GO:0071374 9.63 SLC34A1 PHEX FGF23
15 phosphate ion transport GO:0006817 9.62 SLC34A3 SLC34A1
16 response to vitamin D GO:0033280 9.62 PTH PHEX BGLAP ALPL
17 response to parathyroid hormone GO:0071107 9.61 SLC34A1 PTH
18 sodium-dependent phosphate transport GO:0044341 9.61 SLC34A3 SLC34A1
19 odontoblast differentiation GO:0071895 9.58 FAM20C DSPP
20 dentinogenesis GO:0097187 9.58 SLC34A1 FAM20C DSPP
21 response to sodium phosphate GO:1904383 9.57 PHEX FGF23
22 cAMP metabolic process GO:0046058 9.56 PTHLH PTH
23 phosphate ion homeostasis GO:0055062 9.56 SLC34A1 SFRP4 PTH FGF23
24 biomineral tissue development GO:0031214 9.56 PHEX MEPE FAM20C ENPP1 DSPP DMP1
25 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.55 VDR FGF23
26 cellular phosphate ion homeostasis GO:0030643 9.55 SLC9A3R1 SLC34A3 SLC34A1 FGF23 ENPP1
27 regulation of phosphate transport GO:0010966 9.54 FGFR1 FGF23
28 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.54 KL FGFR1 FGF23
29 regulation of phosphorus metabolic process GO:0051174 9.52 FGFR1 FAM20C
30 skeletal system development GO:0001501 9.32 VDR PTHLH PTH PHEX MEPE FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.5 PTHLH PTH KL
2 peptide hormone receptor binding GO:0051428 9.26 PTHLH PTH
3 sodium:phosphate symporter activity GO:0005436 9.16 SLC34A3 SLC34A1
4 vitamin D binding GO:0005499 8.96 VDR KL
5 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A3 SLC34A1

Sources for Hypophosphatemia

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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