MCID: HYP017
MIFTS: 48

Hypophosphatemia

Categories: Bone diseases, Metabolic diseases

Aliases & Classifications for Hypophosphatemia

MalaCards integrated aliases for Hypophosphatemia:

Name: Hypophosphatemia 12 29 55 6 44 15 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0050336
MeSH 44 D017674
UMLS 72 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 FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and FGF signaling pathway. 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 homeostasis/metabolism

Wikipedia : 75 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 358)
# Related Disease Score Top Affiliating Genes
1 dominant hypophosphatemia with nephrolithiasis or osteoporosis 34.2 SLC9A3R1 SLC34A1
2 hereditary hypophosphatemic rickets 33.9 SLC34A3 SLC34A1
3 hypophosphatemic rickets, autosomal dominant 32.8 SLC34A3 SFRP4 PHEX FGF23
4 autosomal recessive hypophosphatemic rickets 32.0 PHEX FGF23 ENPP1 DMP1
5 tumoral calcinosis, hyperphosphatemic, familial, 1 31.8 KL FGF23
6 metaphyseal chondrodysplasia, jansen type 31.6 PTH FGF23
7 hypophosphatemic rickets, x-linked dominant 31.2 SLC34A3 SLC34A1 PTH PHEX KL FGF23
8 fanconi syndrome 30.9 SLC34A1 CLCN5
9 enthesopathy 30.9 PHEX FGF23 DMP1
10 oncogenic osteomalacia 30.9 SFRP4 PTH PHEX FGF23 DMP1
11 raine syndrome 30.6 FGF23 DMP1
12 nephrolithiasis, calcium oxalate 30.6 SLC34A1 CLCN5
13 hypercalciuria, absorptive, 2 30.3 SLC34A3 CLCN5
14 hypophosphatasia 30.3 PHEX ENPP1
15 hypophosphatemic rickets, x-linked recessive 30.2 SLC34A3 SLC34A1 SFRP4 PHEX FGF23 ENPP1
16 aminoaciduria 30.2 SLC34A1 CLCN5
17 mccune-albright syndrome 30.2 FGF23 BGLAP
18 fibrous dysplasia 30.1 FGF23 BGLAP
19 arterial calcification of infancy 29.9 PHEX FGF23 ENPP1
20 hyperparathyroidism 29.9 PTH PHEX FGF23 BGLAP
21 familial tumoral calcinosis 29.8 PHEX KL FGF23
22 calcinosis 29.6 PHEX KL FGF23 ENPP1
23 primary hyperparathyroidism 29.6 PTH FGF23 BGLAP
24 hypoparathyroidism 29.5 PTH FGF23 BGLAP
25 bone disease 29.5 SLC34A3 PTH FGF23 BGLAP
26 hyperphosphatemia 29.4 SLC34A1 PTH PHEX KL FGF23
27 osteitis fibrosa 29.3 PTH BGLAP
28 nephrocalcinosis 29.3 SLC34A3 SLC34A1 PTH PHEX CLCN5
29 glucocorticoid-induced osteoporosis 29.2 PTH BGLAP
30 bone resorption disease 29.0 PTH BGLAP
31 osteomalacia 28.9 SFRP4 PTH PHEX FGF23 DMP1 BGLAP
32 rickets 28.8 SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
33 hypophosphatemic rickets with hypercalciuria, hereditary 28.6 SLC34A3 SLC34A1 SFRP4 PTH PHEX KL
34 osteoporosis 27.8 SLC9A3R1 SLC34A1 PTH KL FGF23 BGLAP
35 cutaneous-skeletal hypophosphatemia syndrome 12.5
36 hypophosphatemia, renal, with intracerebral calcifications 12.4
37 hypophosphatemic rickets, autosomal recessive, 1 12.1
38 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.9
39 hypophosphatemic rickets, autosomal recessive, 2 11.7
40 panostotic fibrous dysplasia 11.5
41 thyrotoxic periodic paralysis 11.4
42 fanconi renotubular syndrome 1 11.4
43 vitamin d hydroxylation-deficient rickets, type 1a 11.2
44 exostoses, multiple, type i 11.1
45 dent disease 1 11.1
46 lowe oculocerebrorenal syndrome 11.1
47 nephrolithiasis/osteoporosis, hypophosphatemic, 2 11.1
48 tumoral calcinosis, hyperphosphatemic, familial, 2 11.1
49 tumoral calcinosis, hyperphosphatemic, familial, 3 11.1
50 idiopathic infantile hypercalcemia 11.1

Graphical network of the top 20 diseases related to Hypophosphatemia:



Diseases related to Hypophosphatemia

Symptoms & Phenotypes for Hypophosphatemia

MGI Mouse Phenotypes related to Hypophosphatemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 CLCN5 DMP1 ENPP1 FGF23 KL PHEX
2 homeostasis/metabolism MP:0005376 10 CLCN5 DMP1 ENPP1 FGF23 KL PHEX
3 cardiovascular system MP:0005385 9.98 DMP1 ENPP1 FGF23 KL PHEX PTH
4 digestive/alimentary MP:0005381 9.85 FGF23 KL PHEX SFRP4 SLC34A3 SLC9A3R1
5 craniofacial MP:0005382 9.8 CLCN5 DMP1 KL PHEX PTH
6 limbs/digits/tail MP:0005371 9.7 DMP1 ENPP1 FGF23 KL PHEX PTH
7 renal/urinary system MP:0005367 9.65 CLCN5 DMP1 ENPP1 FGF23 KL PHEX
8 skeleton MP:0005390 9.36 CLCN5 DMP1 ENPP1 FGF23 KL PHEX

Drugs & Therapeutics for Hypophosphatemia

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Sodium phosphate, monobasic Used to treat constipation or to clean the bowel before a colonoscopy [FDA Label]. DB09449

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

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
2
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
4
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
5 Vasoconstrictor Agents Phase 4
6 Calciferol Phase 4
7 Bone Density Conservation Agents Phase 4
8 Pharmaceutical Solutions Phase 4
9 Hematinics Phase 4
10 Ferric Compounds Phase 4
11
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
12
Sevelamer Approved Phase 3 52757-95-6
13
Cinacalcet Approved Phase 3 226256-56-0 156419
14
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
15
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
16
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
17
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
18
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
19 Vitamin D2 Phase 3
20 Ergocalciferols Phase 3
21 Antibodies Phase 3
22 Immunologic Factors Phase 3
23 Antibodies, Monoclonal Phase 3
24 Immunoglobulins Phase 3
25 Trace Elements Phase 3
26 Hormones Phase 3
27 Micronutrients Phase 3
28 Vitamins Phase 3
29 Nutrients Phase 3
30 Calcium, Dietary Phase 3
31 Chelating Agents Phase 3
32 Hormone Antagonists Phase 3
33 Calcimimetic Agents Phase 3
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
35 Vasodilator Agents Phase 3
36 Folate Phase 3
37 Vitamin B9 Phase 3
38 Vitamin B Complex Phase 3
39 Vitamin B3 Phase 3
40 Nicotinic Acids Phase 3
41 Hypolipidemic Agents Phase 3
42 Lipid Regulating Agents Phase 3
43 Antimetabolites Phase 3
44 Cariostatic Agents Phase 2
45 Protective Agents Phase 2
46 potassium phosphate Phase 2
47 Immunoglobulin G Phase 2
48 Dextrans Phase 2
49 Iron-Dextran Complex Phase 2
50 Plasma Substitutes Phase 2

Interventional clinical trials:

(show top 50) (show all 76)
# Name Status NCT ID Phase Drugs
1 The Prevention of Refeeding Syndrome by a Diet Regime in Patient With Head and Neck Cancer Unknown status NCT01845922 Phase 4
2 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
3 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
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 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
19 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
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 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
23 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Recruiting NCT03510455 Phase 2 BGJ398
24 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
25 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) Active, not recruiting NCT02750618 Phase 2
26 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
27 The Effect of Oral Niacinamide on Serum Phosphorus Levels in Hemodialysis Patients Completed NCT00316472 Phase 1 Niacinamide
28 A Three Week Dose Escalation Study of PTHrP(1-36) in Postmenopausal Women Completed NCT00222872 Phase 1 Parathyroid Hormone-related Protein;Placebo
29 Phase I Study of Intra-peritoneal Cantrixil in Patients With Persistent or Recurrent Ovarian Cancer, Fallopian Tube Cancer or Primary Peritoneal Cancer. Recruiting NCT02903771 Phase 1 Part A: Dose Escalation of Cantrixil;Part B: Expansion Cohort of Cantrixil
30 Mechanistic Evaluations on Sorafenib Induced Hypophosphatemia in Patients With Advanced Renal Cell Carcinoma Terminated NCT00622479 Phase 1 Sorafenib (Nexavar, BAY43-9006)
31 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
32 A Dose Escalation Study of Sorafenib (BAY 43-9006, NSC 724772) in Nomotensive Patients With Advanced Malignancies Terminated NCT00436579 Phase 1 sorafenib tosylate
33 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
34 Using Cinacalcet to Treat the Hypophosphatemia of Early Kidney Transplant Unknown status NCT01011114 Cinacalcet;Placebo
35 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
36 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
37 68Ga-DOTATATE PET/CT for Detection and Evaluation of the Causative Tumor of Oncogenic Osteomalacia Unknown status NCT01524016 Early Phase 1 68Ga-DOTATATE
38 A Cross-Sectional Study To Investigate The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
39 Evaluation of Hypophosphatemia as a Predictor of Sepsis in Surgical Resuscitation Units. Completed NCT03740802
40 Evaluation of Hypophosphatemia as a Predictive Marker of Mortality During Sepsis in ICU Completed NCT03529058
41 Evaluation of FGF-23 Suppressibility by Calcitonin in Healthy Men - Pilot Study Completed NCT00688077 Calcitonin;Placebo
42 Does Intravenous Iron Therapy Decrease Serum Phosphorous and Vitamin D Levels in Patients With and Without Chronic Renal Failure? Completed NCT02420119
43 Effect of Different Vitamin D Preparations on Circulating FGF23 Levels in Vitamin D Deficient Caucasian and African-American Men and Women Completed NCT00957879
44 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
45 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
46 Effect of Imatinib on Bone Metabolism in Patients With Chronic Myelogenous Leukemia or Gastrointestinal Stromal Tumors. Completed NCT00580281
47 Studies in Phosphorus Metabolism Completed NCT00066183
48 Study of the Effect of the Consumption of Ferric Hydroxide Adipate on Urinary Phosphorus. Completed NCT01991574 Early Phase 1 Calcium acetate;Placebo
49 A Prospective Cohort Study to Describe the Evolution of Persistent Hyperparathyroidism in Kidney Transplant Recipients Completed NCT01163669
50 Incidence and Predictor of TDF Associated Nephrotoxicity and Pharmacokinetic of TDF in HIV-1 Infected Thai Patients: A Sub-study of HIV-NAT 006 Long Term Cohort Completed NCT01138241

Search NIH Clinical Center for Hypophosphatemia

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Dibasic potassium phosphate
dibasic sodium phosphate heptahydrate
Ergocalciferol
Monobasic potassium phosphate
potassium phosphate
POTASSIUM TRIPOLYPHOSPHATE
sodium phosphate
SODIUM PHOSPHATE DIHYDRATE
Sodium Phosphate, Dibasic
SODIUM PHOSPHATE, DIBASIC, ANHYDROUS
Sodium phosphate, monobasic
Sodium Phosphate, Monobasic
SODIUM PHOSPHATE,MONOBASIC,MONOHYDRATE
SODIUM PHOSPHATE,TRIBASIC PWDR
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:

41
Bone, Kidney, Liver, Prostate, Heart, Lung, Bone Marrow

Publications for Hypophosphatemia

Articles related to Hypophosphatemia:

(show top 50) (show all 3390)
# Title Authors PMID Year
1
The levels of somatostatin receptors in causative tumors of oncogenic osteomalacia are insufficient for their agonist to normalize serum phosphate levels. 9 38
20458578 2010
2
[Bone and joint diseases in children. Phosphaturic hormone, FGF23, and bone metabolism]. 9 38
20513948 2010
3
Recent advances in renal phosphate handling. 9 38
20177401 2010
4
Tumor-induced osteomalacia associated with a maxillofacial tumor producing fibroblast growth factor 23: report of a case and review of the literature. 9 38
20219587 2010
5
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. 9 38
19796717 2010
6
Oral phosphate supplementation corrects hypophosphatemia and normalizes plasma FGF23 and 25-hydroxyvitamin D3 levels in women with chronic metabolic acidosis. 9 38
19449283 2010
7
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. 9 38
19815438 2010
8
Nuclear isoforms of fibroblast growth factor 2 are novel inducers of hypophosphatemia via modulation of FGF23 and KLOTHO. 9 38
19933269 2010
9
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. 9 38
20031638 2009
10
The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. 9 38
19808223 2009
11
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. 9 38
19523546 2009
12
Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. 9 38
19555782 2009
13
Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. 9 38
19581284 2009
14
Hypophosphatemia-mediated hypotension in transgenic mice overexpressing human FGF-23. 9 38
19684183 2009
15
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. 9 38
19609735 2009
16
Emerging topics in pediatric bone and mineral disorders 2008. 9 38
19615558 2009
17
FGF23 elevation and hypophosphatemia after intravenous iron polymaltose: a prospective study. 9 38
19366850 2009
18
Mechanisms of renal phosphate loss in liver resection-associated hypophosphatemia. 9 38
19387319 2009
19
Tumor-induced osteomalacia: a case report. 9 38
19578602 2009
20
Effects of tumor-induced osteomalacia on the bone mineralization process. 9 38
19219382 2009
21
Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. 9 38
19049339 2009
22
FGF-23 Levels before and after Renal Transplantation. 9 38
20107581 2009
23
Klotho gene, phosphocalcic metabolism, and survival in dialysis. 9 38
19121771 2009
24
[Rickets]. 9 38
19122271 2009
25
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia. 9 38
18854401 2009
26
Phosphatemic effect of cinacalcet in kidney transplant recipients with persistent hyperparathyroidism. 9 38
18950915 2008
27
Recovery of hyperphosphatoninism and renal phosphorus wasting one year after successful renal transplantation. 9 38
18922992 2008
28
Clinical impact of somatostatin receptor scintigraphy in the management of tumor-induced osteomalacia. 9 38
18936605 2008
29
A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3. 9 38
18996815 2008
30
Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. 9 38
18288501 2008
31
Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. 9 38
18396126 2008
32
FGF23 is elevated in Gambian children with rickets. 9 38
18234575 2008
33
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. 9 38
18172553 2008
34
Bone mass does not correlate with the serum fibroblast growth factor 23 in hemodialysis patients. 9 38
17943081 2008
35
A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. 9 38
17710565 2008
36
Sporadic adult-onset hypophosphatemic osteomalacia caused by excessive action of fibroblast growth factor 23. 9 38
18310982 2008
37
Tumor-induced hypophosphatemic osteomalacia diagnosed by the combinatory procedures of magnetic resonance imaging and venous sampling for FGF23. 9 38
18480582 2008
38
Elevated fibroblast growth factor 23 in a patient with metastatic prostate cancer and hypophosphatemia. 9 38
18037105 2007
39
Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro. 9 38
17699549 2007
40
[Physiological function of osteocytes]. 9 38
17906408 2007
41
Regulatory mechanisms of circulating fibroblast growth factor 23 in parathyroid diseases. 9 38
17976083 2007
42
Novel regulators of phosphate homeostasis and bone metabolism. 9 38
17976082 2007
43
[Pathophysiology in rickets/osteomalacia]. 9 38
17906401 2007
44
Persistent high level of fibroblast growth factor 23 as a cause of post-renal transplant hypophosphatemia. 9 38
17891358 2007
45
Role of fibroblast growth factor 23 in phosphate homeostasis and pathogenesis of disordered mineral metabolism in chronic kidney disease. 9 38
17635819 2007
46
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 9 38
17565275 2007
47
Cinacalcet in the management of tumor-induced osteomalacia. 9 38
17352646 2007
48
Tertiary 'hyperphosphatoninism' accentuates hypophosphatemia and suppresses calcitriol levels in renal transplant recipients. 9 38
17359508 2007
49
FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. 9 38
17227222 2007
50
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. 9 38
17033625 2006

Variations for Hypophosphatemia

ClinVar genetic disease variations for Hypophosphatemia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC9A3R1 NM_004252.5(SLC9A3R1): c.673G> A (p.Glu225Lys) single nucleotide variant Likely benign 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 extracellular space GO:0005615 9.8 SFRP4 PTH KL FGF23 ENPP1 BGLAP
2 extracellular region GO:0005576 9.8 SFRP4 PTH KL FGF23 ENPP1 DMP1
3 apical plasma membrane GO:0016324 9.46 SLC9A3R1 SLC34A3 SLC34A1 KL
4 brush border membrane GO:0031526 9.13 SLC9A3R1 SLC34A3 SLC34A1
5 vesicle GO:0031982 8.92 SLC9A3R1 SLC34A3 SLC34A1 BGLAP

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.78 SLC34A1 FGF23 DMP1
2 skeletal system development GO:0001501 9.75 PTH PHEX BGLAP
3 ossification GO:0001503 9.71 SLC34A1 DMP1 BGLAP
4 positive regulation of bone mineralization GO:0030501 9.6 PTH KL
5 response to cadmium ion GO:0046686 9.59 SLC34A1 PTH
6 response to lead ion GO:0010288 9.58 SLC34A1 PTH
7 regulation of bone mineralization GO:0030500 9.58 FGF23 ENPP1 BGLAP
8 phosphate-containing compound metabolic process GO:0006796 9.57 FGF23 ENPP1
9 response to magnesium ion GO:0032026 9.56 SLC34A1 FGF23
10 response to growth hormone GO:0060416 9.55 SLC34A1 PHEX
11 response to vitamin D GO:0033280 9.54 PTH PHEX BGLAP
12 phosphate ion transport GO:0006817 9.52 SLC34A3 SLC34A1
13 sodium-dependent phosphate transport GO:0044341 9.51 SLC34A3 SLC34A1
14 cellular response to vitamin D GO:0071305 9.5 PHEX FGF23 BGLAP
15 response to parathyroid hormone GO:0071107 9.49 SLC34A1 PTH
16 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.48 KL FGF23
17 response to sodium phosphate GO:1904383 9.46 PHEX FGF23
18 biomineral tissue development GO:0031214 9.46 PHEX ENPP1 DMP1 BGLAP
19 bone mineralization GO:0030282 9.43 PHEX BGLAP
20 cellular response to parathyroid hormone stimulus GO:0071374 9.43 SLC34A1 PHEX FGF23
21 phosphate ion homeostasis GO:0055062 9.26 SLC34A1 SFRP4 PTH FGF23
22 cellular phosphate ion homeostasis GO:0030643 9.02 SLC9A3R1 SLC34A3 SLC34A1 FGF23 ENPP1

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 9.16 KL FGF23
2 sodium:phosphate symporter activity GO:0005436 8.96 SLC34A3 SLC34A1
3 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A3 SLC34A1

Sources for Hypophosphatemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....