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MCID: HYP017
MIFTS: 50

Hypophosphatemia

Categories: Bone diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hypophosphatemia

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MalaCards integrated aliases for Hypophosphatemia:

Name: Hypophosphatemia 12 29 54 6 43 15 71

Classifications:

MalaCards categories:
Global: Metabolic diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


External Ids:

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

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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 Decreased viability and Decreased viability

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

Sources

Related Diseases for Hypophosphatemia

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

(show top 50) (show all 390)
# Related Disease Score Top Affiliating Genes
1 dominant hypophosphatemia with nephrolithiasis or osteoporosis 34.3 SLC9A3R1 SLC34A1
2 hereditary hypophosphatemic rickets 34.1 SLC34A3 SLC34A1
3 nephrolithiasis/osteoporosis, hypophosphatemic, 1 33.1 SLC34A3 SLC34A1 PTH KL FGF23
4 hypophosphatemic rickets with hypercalciuria, hereditary 32.4 SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
5 hypophosphatemic rickets, x-linked dominant 32.3 SLC34A3 SLC34A1 SFRP4 PTH PHEX MEPE
6 hypophosphatemic rickets, autosomal dominant 32.2 SLC34A3 SFRP4 PTH PHEX MEPE KL
7 dent disease 1 32.1 SLC34A3 SLC34A1 OCRL CLCN5
8 oncogenic osteomalacia 31.7 SFRP4 PTHLH PTH PHEX MEPE FGF23
9 metaphyseal chondrodysplasia, jansen type 31.3 SLC9A3R1 SLC34A3 PTHLH PTH PHEX KL
10 hypophosphatemic rickets, x-linked recessive 31.1 VDR SLC34A3 SLC34A1 SFRP4 PHEX MEPE
11 raine syndrome 30.6 FGF23 FAM20C DMP1
12 aminoaciduria 30.5 SLC34A1 OCRL CLCN5
13 metabolic acidosis 30.5 PTH FGF23 BGLAP
14 tumoral calcinosis, hyperphosphatemic, familial, 1 30.5 SLC34A3 PTH PHEX MEPE KL FGFR1
15 autosomal recessive hypophosphatemic rickets 30.5 SLC34A3 SFRP4 PTH PHEX MEPE KL
16 fibrous dysplasia 30.4 PTHLH FGF23 BGLAP
17 fanconi syndrome 30.3 SLC34A3 SLC34A1 PTH PHEX OCRL FGF23
18 mccune-albright syndrome 30.3 SLC34A1 PTHLH FGF23 BGLAP
19 familial tumoral calcinosis 30.3 PHEX KL FGF23
20 ankylosis 30.3 FGFR1 ENPP1 BGLAP
21 osteitis fibrosa 30.2 PTH FGF23 BGLAP
22 enthesopathy 30.2 SLC34A3 PHEX MEPE KL FGF23 ENPP1
23 craniometaphyseal dysplasia, autosomal dominant 30.2 ENPP1 BGLAP ALPL
24 nephrocalcinosis 30.0 SLC34A3 SLC34A1 PTH PHEX OCRL FGF23
25 hyperostosis 30.0 KL FGF23 ALPL
26 nevus, epidermal 30.0 SLC34A3 PHEX FGFR1 FGF23 ENPP1 DMP1
27 hypercalciuria, absorptive, 2 30.0 VDR SLC34A3 CLCN5
28 calcinosis 30.0 PHEX MEPE KL FGF23 ENPP1 DMP1
29 secondary hyperparathyroidism 29.9 VDR PTH PHEX KL FGF23 BGLAP
30 hyperphosphatemia 29.9 VDR SLC34A1 SFRP4 PTH PHEX KL
31 dental pulp necrosis 29.8 MEPE DSPP DMP1 BGLAP
32 vitamin d-dependent rickets, type 2a 29.8 VDR PHEX
33 hyperparathyroidism 29.8 VDR PTHLH PTH PHEX KL FGF23
34 nephrolithiasis, calcium oxalate 29.8 VDR SLC34A1 CLCN5
35 kidney disease 29.8 VDR SLC9A3R1 PTH FGF23 ENPP1 CLCN5
36 bone resorption disease 29.7 VDR PTHLH PTH FGF23 BGLAP
37 glucocorticoid-induced osteoporosis 29.6 VDR PTH BGLAP
38 hypophosphatasia 29.6 PTH PHEX FGF23 ENPP1 DSPP BGLAP
39 rickets 29.6 VDR SLC34A3 SLC34A1 SFRP4 PTH PHEX
40 chronic kidney disease 29.5 VDR PTH KL FGF23 ENPP1 BGLAP
41 uremia 29.5 VDR PTH ENPP1
42 schimmelpenning-feuerstein-mims syndrome 29.5 SLC34A3 PHEX MEPE FGFR1 FGF23 ENPP1
43 hypoparathyroidism 29.5 VDR PTHLH PTH FGF23 BGLAP
44 brittle bone disorder 29.4 PTH PHEX MEPE DSPP BGLAP ALPL
45 primary hyperparathyroidism 29.4 VDR PTHLH PTH KL FGF23 BGLAP
46 arterial calcification of infancy 29.2 SLC34A3 PHEX KL FGF23 FAM20C ENPP1
47 nephrolithiasis 29.2 VDR SLC9A3R1 SLC34A3 SLC34A1 PTH OCRL
48 bone disease 29.1 VDR SLC34A3 PTHLH PTH PHEX FGFR1
49 parathyroid adenoma 29.1 VDR PTHLH PTH BGLAP
50 osteogenic sarcoma 28.9 VDR PTHLH PTH BGLAP

Graphical network of the top 20 diseases related to Hypophosphatemia:



Diseases related to Hypophosphatemia
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Symptoms & Phenotypes for Hypophosphatemia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.55 FGFR1
2 Decreased viability GR00221-A-2 9.55 FGFR1
3 Decreased viability GR00240-S-1 9.55 DSPP SLC34A3
4 Decreased viability GR00249-S 9.55 ALPL ENPP1
5 Decreased viability GR00381-A-1 9.55 DSPP FAM20C SLC34A3
6 Decreased viability GR00386-A-1 9.55 ALPL FAM20C FGFR1 KL SLC34A3 VDR
7 Decreased viability GR00402-S-2 9.55 DSPP ENPP1

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 10.38 ALPL CLCN5 DMP1 ENPP1 FAM20C FGF23
2 homeostasis/metabolism MP:0005376 10.33 ALPL BGLAP CLCN5 DMP1 ENPP1 FAM20C
3 cellular MP:0005384 10.31 ALPL BGLAP CLCN5 DMP1 ENPP1 FAM20C
4 cardiovascular system MP:0005385 10.29 ALPL DMP1 ENPP1 FGF23 FGFR1 KL
5 craniofacial MP:0005382 10.26 ALPL CLCN5 DMP1 ENPP1 FAM20C FGFR1
6 digestive/alimentary MP:0005381 10.25 ALPL FAM20C FGF23 FGFR1 KL PHEX
7 hematopoietic system MP:0005397 10.25 ALPL BGLAP DMP1 FAM20C FGF23 FGFR1
8 endocrine/exocrine gland MP:0005379 10.24 ALPL BGLAP DMP1 FAM20C FGF23 FGFR1
9 immune system MP:0005387 10.21 ALPL BGLAP 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 ALPL ENPP1 FAM20C FGF23 FGFR1 KL
12 renal/urinary system MP:0005367 10.03 CLCN5 DMP1 ENPP1 FAM20C FGF23 FGFR1
13 hearing/vestibular/ear MP:0005377 9.93 ENPP1 FAM20C FGFR1 KL PHEX VDR
14 reproductive system MP:0005389 9.77 ALPL BGLAP DMP1 FAM20C FGF23 FGFR1
15 skeleton MP:0005390 9.58 ALPL BGLAP CLCN5 DMP1 ENPP1 FAM20C
Sources

Drugs & Therapeutics for Hypophosphatemia

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

(show top 50) (show all 92)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
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 Immunologic Factors Phase 4
8 Pharmaceutical Solutions Phase 4
9 Hematinics Phase 4
10 Immunoglobulins Phase 4
11 Antibodies Phase 4
12 Antibodies, Monoclonal Phase 4
13
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
14
Sevelamer Approved Phase 3 52757-95-6
15
Cinacalcet Approved Phase 3 226256-56-0 156419
16
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
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 Micronutrients Phase 3
20 Trace Elements Phase 3
21 Chelating Agents Phase 3
22 Vitamins Phase 3
23 Nutrients Phase 3
24 Hormones Phase 3
25 Calcium, Dietary Phase 3
26 Hormone Antagonists Phase 3
27 Vasodilator Agents Phase 3
28 Vitamin B Complex Phase 3
29 Nicotinic Acids Phase 3
30 Vitamin B3 Phase 3
31 Lipid Regulating Agents Phase 3
32 Folate Phase 3
33 Hypolipidemic Agents Phase 3
34 Vitamin B9 Phase 3
35 Antimetabolites Phase 3
36
Calcium Nutraceutical Phase 3 7440-70-2 271
37 Protective Agents Phase 2
38 potassium phosphate Phase 2
39 Mitogens Phase 2
40 Dextrans Phase 2
41 Anticoagulants Phase 2
42 Plasma Substitutes Phase 2
43 Iron-Dextran Complex Phase 2
44 Blood Substitutes Phase 2
45 Folfirinox Phase 1, Phase 2
46
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239 406563
47 Parathyroid Hormone-Related Protein Phase 1
48 Protein Kinase Inhibitors Phase 1
49
tannic acid Approved 1401-55-4
50
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337

Interventional clinical trials:

(show top 50) (show all 83)
# 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 12-months of Treatment With Burosumab in Children and Adolescents With X-linked Hypophosphatemia: a Prospective Longitudinal Cohort Study Recruiting NCT04419363 Phase 4 Burosumab Injection
4 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
5 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
6 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
7 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
8 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
9 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 Supplement;active vitamin D
10 A Randomized, Open-label, Comparative Trial Comparing the Incidence of Hypophosphatemia in Relation to Treatment With Iron Isomaltoside/Ferric Derisomaltose and Ferric Carboxymaltose in Subjects With Iron Deficiency Anaemia (Phosphare-IDA-04) Completed NCT03238911 Phase 3 Iron isomaltoside/ferric derisomaltose;Ferric carboxymaltose
11 A Randomized, Open-label, Comparative Trial Comparing the Incidence of Hypophosphatemia in Relation to Treatment With Iron Isomaltoside/Ferric Derisomaltose and Ferric Carboxymaltose in Subjects With Iron Deficiency Anaemia (Phosphare-IDA-05) Completed NCT03237065 Phase 3 Iron isomaltoside/ferric derisomaltose;Ferric carboxymaltose
12 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
13 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
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 Completed NCT03581591 Phase 3
15 Randomized Controlled Trial of a Reduced Carbohydrate Formulation of F75 Therapeutic Milk Among Children With Severe Acute Malnutrition Completed NCT02246296 Phase 2, Phase 3
16 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
17 Comparison of Nicotinamide and Sevelamer Hydrochloride on Phosphatemia Control on Chronic Hemodialysed Patients Terminated NCT01011699 Phase 3 nicotinamide;sevelamer;cinacalcet
18 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)
19 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
20 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
21 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
22 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
23 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
24 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
25 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
26 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Completed NCT03510455 Phase 2 BGJ398
27 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) Recruiting NCT04188964 Phase 1, Phase 2 Burosumab
28 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
29 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
30 The Effect of Oral Niacinamide on Serum Phosphorus Levels in Hemodialysis Patients Completed NCT00316472 Phase 1 Niacinamide
31 A Three Week Dose Escalation Study of PTHrP(1-36) in Postmenopausal Women Completed NCT00222872 Phase 1 Parathyroid Hormone-related Protein;Placebo
32 Phase I Study of Intra-peritoneal Cantrixil in Patients With Persistent or Recurrent Ovarian Cancer, Fallopian Tube Cancer or Primary Peritoneal Cancer. Completed NCT02903771 Phase 1 Part A: Dose Escalation of Cantrixil;Part B: Expansion Cohort of Cantrixil
33 Mechanistic Evaluations on Sorafenib Induced Hypophosphatemia in Patients With Advanced Renal Cell Carcinoma Terminated NCT00622479 Phase 1 Sorafenib (Nexavar, BAY43-9006)
34 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
35 A Dose Escalation Study of Sorafenib (BAY 43-9006, NSC 724772) in Nomotensive Patients With Advanced Malignancies Terminated NCT00436579 Phase 1 sorafenib tosylate
36 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
37 Using Cinacalcet to Treat the Hypophosphatemia of Early Kidney Transplant Unknown status NCT01011114 Cinacalcet;Placebo
38 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
39 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
40 68Ga-DOTATATE PET/CT for Detection and Evaluation of the Causative Tumor of Oncogenic Osteomalacia Unknown status NCT01524016 Early Phase 1 68Ga-DOTATATE
41 A Cross-Sectional Study To Investigate The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
42 The Physiological and Cardiovascular Effects of Empagliflozine in Type 2 Diabetes Unknown status NCT02918591 Empagliflozine
43 Evaluation of Hypophosphatemia as a Predictive Marker of Mortality During Sepsis in ICU Completed NCT03529058
44 Evaluation of Hypophosphatemia as a Predictor of Sepsis in Surgical Resuscitation Units. Completed NCT03740802
45 Evaluation of FGF-23 Suppressibility by Calcitonin in Healthy Men - Pilot Study Completed NCT00688077 Calcitonin;Placebo
46 Does Intravenous Iron Therapy Decrease Serum Phosphorous and Vitamin D Levels in Patients With and Without Chronic Renal Failure? Completed NCT02420119
47 Effect of Different Vitamin D Preparations on Circulating FGF23 Levels in Vitamin D Deficient Caucasian and African-American Men and Women Completed NCT00957879
48 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
49 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
50 Effect of Imatinib on Bone Metabolism in Patients With Chronic Myelogenous Leukemia or Gastrointestinal Stromal Tumors. Completed NCT00580281

Search NIH Clinical Center for Hypophosphatemia

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


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,MONOHYDRATE
SODIUM PHOSPHATE,TRIBASIC PWDR
Tribasic Sodium Phosphate

Cochrane evidence based reviews: hypophosphatemia

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Genetic Tests for Hypophosphatemia

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Genetic tests related to Hypophosphatemia:

# Genetic test Affiliating Genes
1 Hypophosphatemia 29
Sources

Anatomical Context for Hypophosphatemia

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MalaCards organs/tissues related to Hypophosphatemia:

40
Bone, Kidney, Liver, Prostate, Heart, Lung, Bone Marrow
Sources

Publications for Hypophosphatemia

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Articles related to Hypophosphatemia:

(show top 50) (show all 3566)
# 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
Recent advances in renal phosphate handling. 54 61
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. 54 61
20219587 2010
5
Oral phosphate supplementation corrects hypophosphatemia and normalizes plasma FGF23 and 25-hydroxyvitamin D3 levels in women with chronic metabolic acidosis. 54 61
19449283 2010
6
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. 54 61
19796717 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. 61 54
19815438 2010
8
Nuclear isoforms of fibroblast growth factor 2 are novel inducers of hypophosphatemia via modulation of FGF23 and KLOTHO. 54 61
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. 61 54
20031638 2009
10
The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. 54 61
19808223 2009
11
Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. 54 61
19555782 2009
12
Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. 61 54
19581284 2009
13
Hypophosphatemia-mediated hypotension in transgenic mice overexpressing human FGF-23. 61 54
19684183 2009
14
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
15
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. 61 54
19609735 2009
16
FGF23 elevation and hypophosphatemia after intravenous iron polymaltose: a prospective study. 61 54
19366850 2009
17
Emerging topics in pediatric bone and mineral disorders 2008. 54 61
19615558 2009
18
Mechanisms of renal phosphate loss in liver resection-associated hypophosphatemia. 61 54
19387319 2009
19
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
20
Tumor-induced osteomalacia: a case report. 61 54
19578602 2009
21
Effects of tumor-induced osteomalacia on the bone mineralization process. 54 61
19219382 2009
22
Klotho gene, phosphocalcic metabolism, and survival in dialysis. 61 54
19121771 2009
23
[Rickets]. 54 61
19122271 2009
24
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia. 61 54
18854401 2009
25
FGF-23 Levels before and after Renal Transplantation. 61 54
20107581 2009
26
Phosphatemic effect of cinacalcet in kidney transplant recipients with persistent hyperparathyroidism. 54 61
18950915 2008
27
Recovery of hyperphosphatoninism and renal phosphorus wasting one year after successful renal transplantation. 61 54
18922992 2008
28
Clinical impact of somatostatin receptor scintigraphy in the management of tumor-induced osteomalacia. 61 54
18936605 2008
29
A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3. 61 54
18996815 2008
30
Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. 54 61
18288501 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
FGF23 is elevated in Gambian children with rickets. 61 54
18234575 2008
33
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. 61 54
18172553 2008
34
A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. 54 61
17710565 2008
35
Sporadic adult-onset hypophosphatemic osteomalacia caused by excessive action of fibroblast growth factor 23. 61 54
18310982 2008
36
Bone mass does not correlate with the serum fibroblast growth factor 23 in hemodialysis patients. 61 54
17943081 2008
37
Tumor-induced hypophosphatemic osteomalacia diagnosed by the combinatory procedures of magnetic resonance imaging and venous sampling for FGF23. 61 54
18480582 2008
38
Elevated fibroblast growth factor 23 in a patient with metastatic prostate cancer and hypophosphatemia. 61 54
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. 61 54
17699549 2007
40
Novel regulators of phosphate homeostasis and bone metabolism. 61 54
17976082 2007
41
[Physiological function of osteocytes]. 61 54
17906408 2007
42
[Pathophysiology in rickets/osteomalacia]. 61 54
17906401 2007
43
Regulatory mechanisms of circulating fibroblast growth factor 23 in parathyroid diseases. 61 54
17976083 2007
44
Persistent high level of fibroblast growth factor 23 as a cause of post-renal transplant hypophosphatemia. 61 54
17891358 2007
45
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 54 61
17565275 2007
46
Role of fibroblast growth factor 23 in phosphate homeostasis and pathogenesis of disordered mineral metabolism in chronic kidney disease. 54 61
17635819 2007
47
Cinacalcet in the management of tumor-induced osteomalacia. 54 61
17352646 2007
48
Tertiary 'hyperphosphatoninism' accentuates hypophosphatemia and suppresses calcitriol levels in renal transplant recipients. 54 61
17359508 2007
49
FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. 54 61
17227222 2007
50
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. 54 61
17033625 2006
Sources

Variations for Hypophosphatemia

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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
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Expression for Hypophosphatemia

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Search GEO for disease gene expression data for Hypophosphatemia.
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Pathways for Hypophosphatemia

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Pathways related to Hypophosphatemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Mineral absorption 36
11.37 VDR SLC34A3 SLC34A1
2
Parathyroid hormone synthesis, secretion and action 36
11.35 VDR SLC9A3R1 SLC34A3 SLC34A1 PTHLH PTH
3
Endocrine and other factor-regulated calcium reabsorption 36
11.3 VDR PTH KL
4
FGF signaling pathway 1
11.22 FGFR1 FGF23 BGLAP
5
Endochondral Ossification 1
11.17 PTHLH PTH FGFR1 ENPP1 ALPL
6
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.15 VDR PTH BGLAP
7
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.05 VDR PTHLH PTH BGLAP
8
Osteoblast Signaling 1
10.58 PTH FGF23 BGLAP
9
Vitamin D Metabolism 1
10.46 VDR PTH
Sources

GO Terms for Hypophosphatemia

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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 9.81 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 9.44 SFRP4 PTHLH PTH MEPE KL FGFR1
7 endoplasmic reticulum lumen GO:0005788 9.35 MEPE FGF23 FAM20C DMP1 BGLAP

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.88 SLC34A1 MEPE FGF23 FAM20C DMP1
2 ossification GO:0001503 9.83 SLC34A1 DSPP DMP1 BGLAP
3 fibroblast growth factor receptor signaling pathway GO:0008543 9.79 KL FGFR1 FGF23
4 bone mineralization GO:0030282 9.77 PTHLH PHEX BGLAP
5 positive regulation of bone mineralization GO:0030501 9.76 PTH KL FAM20C
6 regulation of bone mineralization GO:0030500 9.67 FGF23 ENPP1 BGLAP
7 osteoblast development GO:0002076 9.64 PTHLH BGLAP
8 negative regulation of bone mineralization GO:0030502 9.64 FGF23 ENPP1
9 response to growth hormone GO:0060416 9.63 SLC34A1 PHEX
10 vitamin D metabolic process GO:0042359 9.63 VDR FGF23
11 cellular response to vitamin D GO:0071305 9.63 PHEX FGF23 BGLAP
12 response to magnesium ion GO:0032026 9.62 SLC34A1 FGF23
13 phosphate ion transport GO:0006817 9.62 SLC34A3 SLC34A1
14 response to vitamin D GO:0033280 9.62 PTH PHEX BGLAP ALPL
15 response to parathyroid hormone GO:0071107 9.61 SLC34A1 PTH
16 cellular response to parathyroid hormone stimulus GO:0071374 9.61 SLC34A1 PHEX FGF23
17 odontoblast differentiation GO:0071895 9.59 FAM20C DSPP
18 response to sodium phosphate GO:1904383 9.58 PHEX FGF23
19 dentinogenesis GO:0097187 9.58 SLC34A1 FAM20C DSPP
20 cAMP metabolic process GO:0046058 9.57 PTHLH PTH
21 sodium-dependent phosphate transport GO:0044341 9.56 SLC34A3 SLC34A1
22 phosphate ion homeostasis GO:0055062 9.56 SLC34A1 SFRP4 PTH FGF23
23 biomineral tissue development GO:0031214 9.56 PHEX MEPE FAM20C ENPP1 DSPP DMP1
24 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.55 VDR FGF23
25 cellular phosphate ion homeostasis GO:0030643 9.55 SLC9A3R1 SLC34A3 SLC34A1 FGF23 ENPP1
26 regulation of phosphate transport GO:0010966 9.54 FGFR1 FGF23
27 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.54 KL FGFR1 FGF23
28 regulation of phosphorus metabolic process GO:0051174 9.51 FGFR1 FAM20C
29 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
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Sources for Hypophosphatemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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