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MCID: HYP017
MIFTS: 49

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 44 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 44 D017674
UMLS 71 C0085682
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Summaries for Hypophosphatemia

About this section
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 hereditary hypophosphatemic rickets and dominant hypophosphatemia with nephrolithiasis or osteoporosis. An important gene associated with Hypophosphatemia is SLC9A3R1 (SLC9A3 Regulator 1), and among its related pathways/superpathways are Mineral absorption and Endochondral Ossification. The drugs Iron isomaltoside 1000 and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and prostate, 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...

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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 403)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 32.7 SLC34A3 SLC34A1
2 dominant hypophosphatemia with nephrolithiasis or osteoporosis 32.0 SLC9A3R1 SLC34A1
3 nephrolithiasis/osteoporosis, hypophosphatemic, 1 31.9 SLC34A3 SLC34A1 PTH KL FGF23
4 dent disease 1 31.5 SLC34A3 SLC34A1 OCRL CLCN5
5 hypophosphatemic rickets, autosomal dominant 31.2 SLC34A3 SLC34A1 SFRP4 PTH PHEX MEPE
6 hypophosphatemic rickets with hypercalciuria, hereditary 31.2 SLC34A3 SLC34A1 PTH PHEX MEPE KL
7 oncogenic osteomalacia 31.0 SFRP4 PTHLH PTH PHEX MEPE FGF23
8 hypophosphatemic rickets, x-linked dominant 30.9 SLC34A3 SLC34A1 SFRP4 PTH PHEX MEPE
9 hypophosphatemic rickets, x-linked recessive 30.7 VDR SLC34A3 SLC34A1 SFRP4 PHEX MEPE
10 metaphyseal chondrodysplasia, jansen type 30.7 SLC9A3R1 SLC34A3 PTHLH PTH PHEX KL
11 nephrocalcinosis 30.6 SLC34A3 SLC34A1 PHEX OCRL CLCN5
12 tumoral calcinosis, hyperphosphatemic, familial, 1 30.5 SLC34A3 PTH PHEX MEPE KL FGFR1
13 metabolic acidosis 30.4 PTH FGF23 BGLAP ALB
14 raine syndrome 30.3 FGF23 FAM20C DMP1
15 autosomal recessive hypophosphatemic rickets 30.3 SLC34A3 SFRP4 PTH PHEX MEPE KL
16 fibrous dysplasia 30.2 PTHLH FGF23 BGLAP
17 ankylosis 30.1 FGFR1 ENPP1 BGLAP
18 aminoaciduria 30.1 SLC34A1 OCRL CLCN5
19 mccune-albright syndrome 30.1 SLC34A1 PTHLH FGF23 BGLAP
20 enthesopathy 30.0 SLC34A3 PTH PHEX MEPE KL FGF23
21 nevus, epidermal 30.0 PHEX FGFR1 FGF23 FAM20C ENPP1
22 familial tumoral calcinosis 30.0 PHEX KL FGF23
23 osteitis fibrosa 29.9 PTH FGF23 BGLAP
24 calcinosis 29.9 PHEX MEPE KL FGF23 ENPP1 DMP1
25 fanconi syndrome 29.9 SLC34A3 SLC34A1 PTH PHEX OCRL FGF23
26 autosomal dominant polycystic kidney disease 29.7 SLC9A3R1 KL FGF23 ENPP1 ALB
27 polycystic kidney disease 29.7 SLC9A3R1 KL FGF23 ENPP1 ALB
28 hypophosphatasia 29.7 PTH PHEX FGF23 ENPP1 DSPP BGLAP
29 dental pulp necrosis 29.7 MEPE DSPP DMP1 BGLAP
30 hypercalciuria, absorptive, 2 29.7 VDR SLC34A3 CLCN5
31 schimmelpenning-feuerstein-mims syndrome 29.7 SLC34A3 PHEX MEPE FGFR1 FGF23 ENPP1
32 end stage renal disease 29.6 VDR PTH KL FGF23 ALB
33 hyperphosphatemia 29.6 VDR SLC34A1 SFRP4 PTH PHEX KL
34 secondary hyperparathyroidism 29.6 VDR PTH PHEX KL FGF23 BGLAP
35 hyperparathyroidism 29.5 VDR PTHLH PTH PHEX KL FGF23
36 arterial calcification of infancy 29.5 SLC34A3 PHEX KL FGF23 FAM20C ENPP1
37 kidney disease 29.4 VDR SLC9A3R1 PTH FGF23 ENPP1 CLCN5
38 dental caries 29.4 VDR DSPP DMP1 ALB
39 rickets 29.4 VDR SLC34A3 SLC34A1 PTH PHEX OCRL
40 bone disease 29.4 VDR SLC34A3 PTHLH PTH PHEX FGFR1
41 chronic kidney disease 29.4 VDR PTH KL FGF23 ENPP1 BGLAP
42 glucocorticoid-induced osteoporosis 29.3 VDR PTH BGLAP
43 nephrolithiasis, calcium oxalate 29.3 VDR SLC9A3R1 SLC34A1 CLCN5
44 hypoparathyroidism 29.3 VDR PTHLH PTH FGF23 BGLAP
45 nephrolithiasis 29.3 VDR SLC9A3R1 SLC34A3 SLC34A1 PTH FGF23
46 bone resorption disease 29.2 VDR PTHLH PTH FGF23 BGLAP ALB
47 uremia 29.1 VDR PTH ENPP1 ALB
48 familial hypocalciuric hypercalcemia 29.0 VDR PTHLH PTH
49 primary hyperparathyroidism 29.0 VDR PTHLH PTH KL FGF23 BGLAP
50 osteomalacia 28.9 VDR SLC34A3 SLC34A1 SFRP4 PTHLH PTH

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 ALB ENPP1
5 Decreased viability GR00381-A-1 9.55 DSPP FAM20C SLC34A3
6 Decreased viability GR00386-A-1 9.55 ALB FAM20C FGFR1 KL SLC34A3 VDR
7 Decreased viability GR00402-S-2 9.55 DSPP ENPP1

MGI Mouse Phenotypes related to Hypophosphatemia:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 ALB BGLAP CLCN5 DMP1 ENPP1 FAM20C
2 growth/size/body region MP:0005378 10.35 CLCN5 DMP1 ENPP1 FAM20C FGF23 FGFR1
3 cellular MP:0005384 10.31 ALB BGLAP CLCN5 DMP1 ENPP1 FAM20C
4 cardiovascular system MP:0005385 10.29 ALB DMP1 ENPP1 FGF23 FGFR1 KL
5 digestive/alimentary MP:0005381 10.25 ALB FAM20C FGF23 FGFR1 KL PHEX
6 craniofacial MP:0005382 10.22 CLCN5 DMP1 ENPP1 FAM20C FGFR1 KL
7 hematopoietic system MP:0005397 10.21 BGLAP DMP1 FAM20C FGF23 FGFR1 KL
8 immune system MP:0005387 10.21 ALB BGLAP DMP1 ENPP1 FAM20C FGF23
9 endocrine/exocrine gland MP:0005379 10.19 ALB BGLAP FAM20C FGF23 FGFR1 KL
10 mortality/aging MP:0010768 10.1 ALB ENPP1 FAM20C FGF23 FGFR1 KL
11 limbs/digits/tail MP:0005371 10.06 DMP1 ENPP1 FAM20C FGF23 FGFR1 KL
12 renal/urinary system MP:0005367 10.06 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 BGLAP FAM20C FGF23 FGFR1 KL OCRL
15 skeleton MP:0005390 9.55 BGLAP CLCN5 DMP1 ENPP1 FAM20C FGF23
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 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
3
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
4 Hormones Phase 4
5 Vitamins Phase 4
6 Calcium, Dietary Phase 4
7 Calciferol Phase 4
8 Nutrients Phase 4
9 Micronutrients Phase 4
10 Trace Elements Phase 4
11 Hematinics Phase 4
12 Immunoglobulins Phase 4
13 Antibodies Phase 4
14 Antibodies, Monoclonal Phase 4
15 Immunologic Factors Phase 4
16 Vasoconstrictor Agents Phase 4
17 Anti-Infective Agents Phase 4
18 Antibiotics, Antitubercular Phase 4
19 Anti-Bacterial Agents Phase 4
20
Calcium Nutraceutical Phase 4 7440-70-2 271
21
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
22 Hormone Antagonists Phase 3
23 Mitogens Phase 3
24 Protective Agents Phase 2
25 potassium phosphate Phase 2
26 Dextrans Phase 2
27 Plasma Substitutes Phase 2
28 Anticoagulants Phase 2
29 Blood Substitutes Phase 2
30 Iron-Dextran Complex Phase 2
31 Pharmaceutical Solutions Phase 1, Phase 2
32
Cinacalcet Approved Phase 1 226256-56-0 156419
33
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239 406563
34 Protein Kinase Inhibitors Phase 1
35
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
36
tannic acid Approved 1401-55-4
37
Sevelamer Approved 52757-95-6
38
Calcium acetate Approved, Investigational Early Phase 1 62-54-4
39
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
40
Sodium citrate Approved, Investigational 68-04-2
41
Iron Approved 7439-89-6 23925 29936
42
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
43
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
44
Calcitonin gene-related peptide Investigational 83652-28-2
45 Hydroxycholecalciferols
46 Chelating Agents Early Phase 1
47 Katacalcin
48 calcitonin
49 Vasodilator Agents
50 Caseins

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 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
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 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
4 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
5 Hupophosphatemia Levels Deleteriously Affect Outcome of Patients With Severe Sepsis/Septic Shock Admitted to ICU Not yet recruiting NCT04519762 Phase 4 Glycophos (Sodium Glycerophosphate);Antibiotics;Inotropes
6 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
7 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
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 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 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, 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
13 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
14 An Investigator-sponsored Phase 3b Open-label Study of Anti- FGF23 Antibody Burosumab (KRN23) in Adult Patients With Xlinked Hypophosphatemia (XLH) in GERmany - BurGER Recruiting NCT04695860 Phase 3 Burosumab
15 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
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 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
18 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
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 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 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
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 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
24 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
25 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
26 Mechanistic Evaluations on Sorafenib Induced Hypophosphatemia in Patients With Advanced Renal Cell Carcinoma Terminated NCT00622479 Phase 1 Sorafenib (Nexavar, BAY43-9006)
27 Using Cinacalcet to Treat the Hypophosphatemia of Early Kidney Transplant Unknown status NCT01011114 Cinacalcet;Placebo
28 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
29 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
30 The Prevention of Refeeding Syndrome by a Diet Regime in Patient With Head and Neck Cancer Completed NCT01845922
31 Study of the Effect of the Consumption of Ferric Hydroxide Adipate on Urinary Phosphorus. Completed NCT01991574 Early Phase 1 Calcium acetate;Placebo
32 X-linked Hypophosphatemia and Carbohydrate and Lipid Metabolism: a Role for FGF21? Completed NCT03596554
33 Evaluation of Hypophosphatemia as a Predictive Marker of Mortality During Sepsis in ICU Completed NCT03529058
34 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
35 Hypophosphatemia in the ICU - A One-day Point Prevalence Survey Completed NCT04201899
36 Evaluation of Hypophosphatemia as a Predictor of Sepsis in Surgical Resuscitation Units. Completed NCT03740802
37 Hypophosphatemia Deleteriously Affects Outcome of Septic Shock Patients Admitted to ICU Completed NCT04455113
38 Evaluation of FGF-23 Suppressibility by Calcitonin in Healthy Men - Pilot Study Completed NCT00688077 Calcitonin;Placebo
39 Effect of Dietary Protein Source on Phosphaturia, PTH and FGF23 in Patients With CKD 3 and 4 Completed NCT00764816
40 Dental Implants in Patients With X-linked Hypophosphatemia Recruiting NCT03879915
41 Calcitriol Monotherapy for X-Linked Hypophosphatemia: Effects on Mineral Ions, Growth and Skeletal Parameters Recruiting NCT03748966 Early Phase 1 Calcitriol
42 Interplay of FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993
43 Characterising Pain, Quality of Life, Body Composition, Arterial Stiffness, Muscle Function, Bone Density and Geometry in Adult Persons With Hereditary Hypophosphatemia and Healthy Controls Recruiting NCT04273490
44 X-linked Hypophosphatemia Disease Monitoring Program (XLH-DMP) Recruiting NCT03651505
45 An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-linked Hypophosphatemia (XLH) Recruiting NCT03193476
46 The Impact of Phosphate Metabolism on Healthy Aging Recruiting NCT03771105 Early Phase 1 phosphate
47 An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia Recruiting NCT03745521
48 Simplified Regional Citrate Anticoagulation Protocols for CVVH, CVVHDF and SLED Focused on the Prevention of RRT-related Hypophosphatemia and Optimization of Acid-base Balance: a Pilot Study Active, not recruiting NCT03976440
49 Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH) Active, not recruiting NCT04049877
50 An Open Label Trial to Assess the Safety and Efficacy of Burosumab in a Single Patient With Cutaneous Skeletal Hypophosphatemia Syndrome (CSHS) Active, not recruiting NCT03993821 Early Phase 1 Burosumab

Search NIH Clinical Center for Hypophosphatemia

Inferred drug relations via UMLS 71 / 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,MONOHYDRATE
SODIUM PHOSPHATE,TRIBASIC PWDR
Tribasic Sodium Phosphate

Cochrane evidence based reviews: hypophosphatemia

Sources

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
Kidney, Bone, Prostate, Heart, Myeloid, Breast, Bone Marrow
Sources

Publications for Hypophosphatemia

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Articles related to Hypophosphatemia:

(show top 50) (show all 3702)
# 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. 54 61
20458578 2010
3
Recent advances in renal phosphate handling. 61 54
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. 61 54
20219587 2010
5
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
6
Oral phosphate supplementation corrects hypophosphatemia and normalizes plasma FGF23 and 25-hydroxyvitamin D3 levels in women with chronic metabolic acidosis. 54 61
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. 61 54
19815438 2010
8
Nuclear isoforms of fibroblast growth factor 2 are novel inducers of hypophosphatemia via modulation of FGF23 and KLOTHO. 61 54
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. 54 61
20031638 2009
10
The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. 61 54
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. 61 54
19523546 2009
12
Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. 54 61
19555782 2009
13
Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. 61 54
19581284 2009
14
Hypophosphatemia-mediated hypotension in transgenic mice overexpressing human FGF-23. 54 61
19684183 2009
15
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. 61 54
19609735 2009
16
Emerging topics in pediatric bone and mineral disorders 2008. 61 54
19615558 2009
17
FGF23 elevation and hypophosphatemia after intravenous iron polymaltose: a prospective study. 61 54
19366850 2009
18
Mechanisms of renal phosphate loss in liver resection-associated hypophosphatemia. 54 61
19387319 2009
19
Tumor-induced osteomalacia: a case report. 61 54
19578602 2009
20
Effects of tumor-induced osteomalacia on the bone mineralization process. 54 61
19219382 2009
21
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
22
FGF-23 Levels before and after Renal Transplantation. 61 54
20107581 2009
23
Klotho gene, phosphocalcic metabolism, and survival in dialysis. 61 54
19121771 2009
24
[Rickets]. 54 61
19122271 2009
25
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia. 54 61
18854401 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. 54 61
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. 54 61
18234575 2008
33
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. 54 61
18172553 2008
34
Bone mass does not correlate with the serum fibroblast growth factor 23 in hemodialysis patients. 54 61
17943081 2008
35
Tumor-induced hypophosphatemic osteomalacia diagnosed by the combinatory procedures of magnetic resonance imaging and venous sampling for FGF23. 61 54
18480582 2008
36
A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. 61 54
17710565 2008
37
Sporadic adult-onset hypophosphatemic osteomalacia caused by excessive action of fibroblast growth factor 23. 61 54
18310982 2008
38
Elevated fibroblast growth factor 23 in a patient with metastatic prostate cancer and hypophosphatemia. 54 61
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. 54 61
17699549 2007
40
[Pathophysiology in rickets/osteomalacia]. 54 61
17906401 2007
41
Regulatory mechanisms of circulating fibroblast growth factor 23 in parathyroid diseases. 61 54
17976083 2007
42
[Physiological function of osteocytes]. 61 54
17906408 2007
43
Novel regulators of phosphate homeostasis and bone metabolism. 54 61
17976082 2007
44
Persistent high level of fibroblast growth factor 23 as a cause of post-renal transplant hypophosphatemia. 61 54
17891358 2007
45
Role of fibroblast growth factor 23 in phosphate homeostasis and pathogenesis of disordered mineral metabolism in chronic kidney disease. 54 61
17635819 2007
46
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 61 54
17565275 2007
47
Cinacalcet in the management of tumor-induced osteomalacia. 61 54
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. 61 54
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 SLC9A3R1 NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys) SNV Likely pathogenic 5272 rs119486097 17:72759575-72759575 17:74763436-74763436
2 ALPL NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) Indel not provided 188877 rs786204530 1:21889705-21889706 1:21563212-21563213
Sources

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
11.38 VDR SLC34A3 SLC34A1
2
Endochondral Ossification 1
11.37 PTHLH PTH FGFR1 ENPP1
3
Parathyroid hormone synthesis, secretion and action 36
11.35 VDR SLC9A3R1 SLC34A3 SLC34A1 PTHLH PTH
4
Endocrine and other factor-regulated calcium reabsorption 36
11.3 VDR PTH KL
5
FGF signaling pathway 1
11.22 FGFR1 FGF23 BGLAP
6
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.15 VDR PTH BGLAP
7
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
10.85 VDR PTHLH PTH BGLAP
8
Osteoblast Signaling 1
10.48 PTH FGF23 BGLAP
9
Vitamin D Metabolism 1
10.46 VDR PTH
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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 Golgi apparatus GO:0005794 9.91 PTHLH PHEX OCRL FAM20C CLCN5 BGLAP
2 extracellular space GO:0005615 9.81 SFRP4 PTHLH PTH KL FGF23 FAM20C
3 vesicle GO:0031982 9.56 SLC9A3R1 SLC34A3 SLC34A1 BGLAP
4 brush border membrane GO:0031526 9.5 SLC9A3R1 SLC34A3 SLC34A1
5 extracellular region GO:0005576 9.44 SFRP4 PTHLH PTH MEPE KL FGFR1
6 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 27)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.97 MEPE FGF23 FAM20C DMP1 ALB
2 cellular protein metabolic process GO:0044267 9.8 SLC34A1 MEPE FGF23 FAM20C DMP1 ALB
3 ossification GO:0001503 9.78 SLC34A1 DSPP DMP1 BGLAP
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.77 KL FGFR1 FGF23
5 skeletal system development GO:0001501 9.76 VDR PTHLH PTH PHEX MEPE FGFR1
6 bone mineralization GO:0030282 9.75 PTHLH PHEX BGLAP
7 osteoblast development GO:0002076 9.63 PTHLH BGLAP
8 negative regulation of bone mineralization GO:0030502 9.63 FGF23 ENPP1
9 regulation of bone mineralization GO:0030500 9.63 FGF23 ENPP1 BGLAP
10 response to growth hormone GO:0060416 9.62 SLC34A1 PHEX
11 vitamin D metabolic process GO:0042359 9.62 VDR FGF23
12 response to magnesium ion GO:0032026 9.61 SLC34A1 FGF23
13 phosphate ion transport GO:0006817 9.61 SLC34A3 SLC34A1
14 response to vitamin D GO:0033280 9.61 PTH PHEX BGLAP
15 dentinogenesis GO:0097187 9.59 SLC34A1 DSPP
16 response to parathyroid hormone GO:0071107 9.58 SLC34A1 PTH
17 cellular response to vitamin D GO:0071305 9.58 PHEX FGF23 BGLAP
18 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.56 KL FGF23
19 phosphate ion homeostasis GO:0055062 9.56 SLC34A1 SFRP4 PTH FGF23
20 response to sodium phosphate GO:1904383 9.55 PHEX FGF23
21 odontoblast differentiation GO:0071895 9.54 FAM20C DSPP
22 cellular response to parathyroid hormone stimulus GO:0071374 9.54 SLC34A1 PHEX FGF23
23 cAMP metabolic process GO:0046058 9.52 PTHLH PTH
24 sodium-dependent phosphate transport GO:0044341 9.51 SLC34A3 SLC34A1
25 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.49 VDR FGF23
26 cellular phosphate ion homeostasis GO:0030643 9.35 SLC9A3R1 SLC34A3 SLC34A1 FGF23 ENPP1
27 biomineral tissue development GO:0031214 9.17 PHEX MEPE FAM20C ENPP1 DSPP DMP1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 PTHLH PTH KL
2 peptide hormone receptor binding GO:0051428 8.96 PTHLH PTH
3 sodium:phosphate symporter activity GO:0005436 8.62 SLC34A3 SLC34A1
Sources

Sources for Hypophosphatemia

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