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MCID: HYP017
MIFTS: 48

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 55 6 44 15 73

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 73 C0085682
Sources

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 hereditary hypophosphatemic rickets and hypophosphatemic rickets, autosomal dominant. 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 Zinc and Insulin Glargine 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 : 76 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 187)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 33.1 SLC34A1 SLC34A3
2 hypophosphatemic rickets, autosomal dominant 32.8 FGF23 PHEX SFRP4 SLC34A3
3 hypophosphatemic rickets, x-linked dominant 32.8 DMP1 FGF23 PHEX PTH SLC34A1 SLC34A3
4 oncogenic osteomalacia 31.7 DMP1 FGF23 PHEX PTH SFRP4
5 metaphyseal chondrodysplasia, jansen type 31.5 FGF23 PTH
6 autosomal recessive hypophosphatemic rickets 31.4 DMP1 ENPP1 FGF23 PHEX
7 hypophosphatemic rickets, x-linked recessive 31.0 CLCN5 DMP1 DSPP ENPP1 FGF23 PHEX
8 hypophosphatemic rickets with hypercalciuria, hereditary 30.7 DMP1 ENPP1 FGF23 PHEX PTH SFRP4
9 fanconi syndrome 30.2 CLCN5 SLC34A1
10 enthesopathy 30.2 DMP1 FGF23 PHEX
11 mccune-albright syndrome 30.1 BGLAP FGF23
12 hyperparathyroidism 30.0 BGLAP FGF23 PHEX PTH
13 hyperphosphatemia 30.0 FGF23 PHEX PTH SLC34A1
14 fibrous dysplasia 29.9 BGLAP FGF23
15 bone disease 29.9 BGLAP FGF23 PTH SLC34A3
16 hypoparathyroidism 29.8 BGLAP FGF23 PTH
17 osteomalacia 29.8 BGLAP DMP1 FGF23 PHEX PTH SFRP4
18 nephrolithiasis, calcium oxalate 29.8 CLCN5 SLC34A1
19 calcinosis 29.7 ENPP1 FGF23 PHEX
20 nephrolithiasis 29.7 CLCN5 FGF23 PTH SLC34A1 SLC34A3
21 arterial calcification of infancy 29.7 ENPP1 FGF23 PHEX
22 nephrocalcinosis 29.7 CLCN5 PHEX PTH SLC34A1 SLC34A3
23 raine syndrome 29.6 DMP1 FAM20C FGF23
24 rickets 29.6 BGLAP CLCN5 DMP1 ENPP1 FGF23 PHEX
25 osteoporosis 29.5 BGLAP FGF23 PTH SLC34A1
26 secondary hyperparathyroidism of renal origin 29.5 BGLAP FGF23 PTH
27 primary hyperparathyroidism 29.5 BGLAP FGF23 PTH
28 bone resorption disease 29.5 BGLAP PTH
29 hypophosphatasia 29.4 DSPP ENPP1 PHEX
30 cutaneous-skeletal hypophosphatemia syndrome 12.4
31 hypophosphatemia, renal, with intracerebral calcifications 12.0
32 dominant hypophosphatemia with nephrolithiasis or osteoporosis 12.0
33 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.8
34 hypophosphatemic rickets, autosomal recessive, 1 11.7
35 hypophosphatemic rickets, autosomal recessive, 2 11.6
36 vitamin d hydroxylation-deficient rickets, type 1a 11.4
37 panostotic fibrous dysplasia 11.3
38 thyrotoxic periodic paralysis 11.3
39 exostoses, multiple, type i 10.9
40 fanconi renotubular syndrome 1 10.9
41 tumoral calcinosis, hyperphosphatemic, familial, 1 10.9
42 dent disease 1 10.9
43 lowe oculocerebrorenal syndrome 10.9
44 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.9
45 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
46 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
47 anorexia nervosa 10.3
48 hypokalemia 10.3
49 respiratory failure 10.2
50 opsismodysplasia 10.2 FGF23 PHEX

Graphical network of the top 20 diseases related to Hypophosphatemia:



Diseases related to Hypophosphatemia
Sources

Symptoms & Phenotypes for Hypophosphatemia

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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 FAM20C FGF23 PHEX
2 homeostasis/metabolism MP:0005376 9.96 CLCN5 DMP1 ENPP1 FAM20C FGF23 PHEX
3 craniofacial MP:0005382 9.77 CLCN5 DMP1 FAM20C PHEX PTH
4 limbs/digits/tail MP:0005371 9.7 DMP1 ENPP1 FAM20C FGF23 PHEX PTH
5 renal/urinary system MP:0005367 9.61 CLCN5 DMP1 ENPP1 FAM20C FGF23 PHEX
6 skeleton MP:0005390 9.32 CLCN5 DMP1 ENPP1 FAM20C FGF23 PHEX
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 183)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6
2
Insulin Glargine Approved Phase 4 160337-95-1
3
Iron Approved Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable 7439-89-6 23925
4 Chelating Agents Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
5 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
6 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
7 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Locust bean gum Phase 4
9 Polystyrene sulfonic acid Phase 4
10 Hypoglycemic Agents Phase 4
11 insulin Phase 4
12 Insulin, Globin Zinc Phase 4
13 Brewer's Yeast Phase 4
14 Hematinics Phase 4,Phase 3,Phase 2,Not Applicable
15 Ferric Compounds Phase 4,Phase 3,Phase 2
16
Sorafenib Approved, Investigational Phase 3,Phase 1 284461-73-0 216239 406563
17
Sevelamer Approved Phase 3,Phase 2 52757-95-6
18
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
19
Lopinavir Approved Phase 3 192725-17-0 92727
20
Ritonavir Approved, Investigational Phase 3 155213-67-5 392622
21
Axitinib Approved, Investigational Phase 3 319460-85-0 6450551
22
Pemetrexed Approved, Investigational Phase 3,Phase 2 150399-23-8, 137281-23-3 446556 60843
23
Carboplatin Approved Phase 3,Phase 2 41575-94-4 10339178 38904 498142
24
Crizotinib Approved Phase 3,Phase 1 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
25
leucovorin Approved Phase 3,Phase 2,Not Applicable 58-05-9 6006 143
26
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 2767 441203 84093
27
Adefovir Dipivoxil Approved, Investigational Phase 3 142340-99-6 60871
28
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 1406-16-2
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 59-30-3 6037
30
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
31
Tenofovir Experimental, Investigational Phase 3,Phase 2 147127-20-6 464205
32
Adefovir Investigational Phase 3 106941-25-7
33 Mitogens Phase 3,Phase 2,Phase 1,Not Applicable
34 Calciferol Phase 3,Not Applicable
35 Vitamins Phase 3,Phase 1,Not Applicable
36 Hormones Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
38 Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
39 Bone Density Conservation Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
40 Cinacalcet Hydrochloride Phase 3,Phase 1,Not Applicable
41 Calcimimetic Agents Phase 3,Phase 1,Not Applicable
42 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
43 Vitamin B Complex Phase 3,Phase 2,Phase 1,Not Applicable
44 Vitamin B9 Phase 3,Phase 2,Phase 1,Not Applicable
45 Folate Phase 3,Phase 2,Phase 1,Not Applicable
46 Vitamin D2 Phase 3,Not Applicable
47 Ergocalciferols Phase 3,Not Applicable
48 Calcium, Dietary Phase 3,Phase 2,Phase 1,Early Phase 1
49 Antiviral Agents Phase 3,Phase 2,Phase 1
50 Reverse Transcriptase Inhibitors Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 103)
# Name Status NCT ID Phase Drugs
1 The Effect of a Diet Based on Low Sodium and Slowly Absorbed Carbohydrates on the Incidence of Refeeding Syndrome in Patients With Head and Neck Cancer Unknown status NCT01845922 Phase 4
2 Efficacy of Sodium Polystyrene Sulfonate in the Treatment of Hyperkaliemia in Pre-dialysis Patients Completed NCT02065076 Phase 4 Sodium polystyrene sulfonate;Lactose with carob gum
3 Insulin in Total Parenteral Nutrition Completed NCT02706119 Phase 4 Subcutaneous glargine insulin;Regular insulin added to TPN bag
4 A Trial Comparing the Incidence of Hypophosphatemia in Relation to Treatment With Iron Isomaltoside and Ferric Carboxymaltose in Subjects With Iron Deficiency Anaemia Due to Inflammatory Bowel Disease Recruiting NCT03466983 Phase 4 Iron Isomaltoside;Ferric Carboxymaltose
5 A Study Comparing the Iron Substitution With the Medicinal Products Ferinject or Monofer Recruiting NCT02905539 Phase 4 Iron Isomaltoside 1000;Ferric Carboxymaltose
6 A 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
7 A 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
8 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
9 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
10 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
11 Treatment of Autonomous Hyperparathyroidism in Post Renal Transplant Recipients Completed NCT00975000 Phase 3 Cinacalcet;Placebo
12 Emtricitabine/Tenofovir Disoproxil Fumarate for HIV Prevention in Men Completed NCT00458393 Phase 3 daily TDF/FTC;Placebo
13 BMS-Reyataz Study in Treatment in Naive Subjects to Compare the Efficacy and Safety Between Boosted Reyataz and Kaletra When in Combination With Fixed Dose Truvada Completed NCT00272779 Phase 3 ATV;RTV;Tenofovi-Emtricitabine (TDF/FTC) tablet;LPV
14 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
15 Axitinib (AG 013736) As Second Line Therapy For Metastatic Renal Cell Cancer Completed NCT00678392 Phase 3 Axitinib (AG-013736);Sorafenib
16 A Clinical Trial Testing The Efficacy Of Crizotinib Versus Standard Chemotherapy Pemetrexed Plus Cisplatin Or Carboplatin In Patients With ALK Positive Non Squamous Cancer Of The Lung Completed NCT01154140 Phase 3 treatment;treatment
17 Efficacy and Safety of Tenofovir Disoproxil Fumarate (TDF) 300mg in Chinese Subjects With Chronic Hepatitis B (CHB) Completed NCT01300234 Phase 3 Tenofovir disoproxil fumarate (TDF) tablets;Adefovir dipivoxil (ADV) tablets
18 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Recruiting NCT03581591 Phase 3
19 A Phase 3 Study of Tenapanor to Treat Hyperphosphatemia in ESRD Patients on Dialysis Recruiting NCT03427125 Phase 3 Tenapanor;Placebo;Sevelamer Carbonate
20 Lanthanum Carbonate (Fosrenol®) to Reduce Oxalate Excretion in Patients With Secondary Hyperoxaluria and Nephrolithiasis Recruiting NCT03346369 Phase 3 Lanthanum Carbonate
21 Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Active, not recruiting NCT02915705 Phase 3 oral phosphate;active vitamin D
22 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
23 Investigating a New Way of Giving Medicine to Newborn and Preterm Babies Unknown status NCT01676844 Phase 2 Oral thin film therapy (Potassium acid phosphate oral thin films);Standard therapy (Potassium acid phosphate oral solution)
24 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
25 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
26 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Completed NCT02163577 Phase 2
27 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Completed NCT02312687 Phase 2
28 Hypophosphatemia With Ferric Carboxymaltose Vs. Iron Dextran in Iron Deficiency Secondary to Heavy Uterine Bleeding Completed NCT01307007 Phase 2 Ferric Carboxymaltose (FCM);Iron Dextran Injection
29 Extended Safety Study of Tenofovir Disoproxil Fumarate (TDF) Among HIV-1 Negative Men Completed NCT00131677 Phase 2 tenofovir disoproxil fumarate;placebo
30 The Effects of Sevelamer Carbonate on Diabetic Nephropathy Completed NCT01493050 Phase 2 Sevelamer Carbonate;calcium carbonate
31 Veliparib and Temozolomide in Treating Patients With Recurrent Glioblastoma Completed NCT01026493 Phase 1, Phase 2 temozolomide 60 mg x 21 days;temozolomide 75 mg x 21 days;ABT-888 20 mg x 21 days;ABT-888 40 mg x 21 days;Temozolomide 150 mg x 5 days;ABT-888 40 mg x 5 days
32 Cixutumumab and Temsirolimus in Treating Patients With Locally Recurrent or Metastatic Breast Cancer Completed NCT00699491 Phase 1, Phase 2 Temsirolimus
33 Cetuximab and Lenalidomide in Head and Neck Completed NCT01133665 Phase 2 Cetuximab and Lenalidomide
34 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
35 Study of AVE0005 (VEGF Trap) in Locally Advanced or Metastatic Platinum- and Erlotinib- Resistant Non-small-cell-lung Adenocarcinoma Completed NCT00284141 Phase 2 Aflibercept (ziv-aflibercept, AVE0005, VEGF trap, ZALTRAP®)
36 Washington Study of Hemofiltration After Out-of-Hospital Cardiac Arrest Completed NCT01509040 Phase 1, Phase 2
37 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Recruiting NCT03510455 Phase 2 BGJ398
38 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
39 Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02750618 Phase 2
40 Study of Ixazomib With Pegylated IFN-alpha 2b (pIFN) in Metastatic Renal Cell Carcinoma (mRCC) Terminated NCT02447887 Phase 1, Phase 2 Ixazomib;Pegylated IFN-alpha 2b
41 Study of CCNU (Lomustine) Plus Dasatinib in Recurrent Glioblastoma (GBM) Terminated NCT00948389 Phase 1, Phase 2 Dasatinib;Lomustine
42 Single-Agent Glasdegib In Patients With Myelofibrosis Previously Treated With Ruxolitinib Terminated NCT02226172 Phase 2 Glasdegib (PF-04449913);Placebo
43 A Study to Evaluate Pazopanib in Comparison to Pemetrexed in Maintenance Setting in Non-progressing Subjects With Metastatic Stage IVA and IVB Non-squamous Non-small Cell Lung Cancer (NSCLC) Population Terminated NCT01313663 Phase 2 pazopanib;pemetrexed
44 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
45 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
46 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
47 This is a Phase 1 Study of Eribulin Mesylate in Pediatric Participants With Recurrent or Refractory Solid Tumors (Excluding [Central Nervous System] CNS), Including Lymphomas Completed NCT02171260 Phase 1 Eribulin Mesylate
48 Multiple Dose Study to Evaluate the Safety of Multiple Doses of Denosumab 120 mg in Adults With Severe Chronic Kidney Disease (CKD) and CKD on Dialysis Completed NCT01464931 Phase 1 Denosumab
49 Study Evaluating Neratinib In Combination With Temsirolimus In Subjects With Solid Tumors Completed NCT00838539 Phase 1 Neratinib;Temsirolimus
50 A Study Of Combined C- MET Inhibitor And PAN-HER Inhibitor (PF-02341066 And PF-00299804) In Patients With Non- Small Cell Lung Cancer Completed NCT01121575 Phase 1 PF-02341066;PF-00299804;PF-02341066;PF-00299804

Search NIH Clinical Center for Hypophosphatemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Bone, Kidney, Liver, Heart, Bone Marrow, Prostate, Myeloid
Sources

Publications for Hypophosphatemia

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Articles related to Hypophosphatemia:

(show top 50) (show all 837)
# Title Authors Year
1
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. ( 29460029 )
2018
2
High-Dose Ferric Carboxymaltose in Patients With HFrEF Induces Significant Hypophosphatemia. ( 29747838 )
2018
3
Hypophosphatemia occurs with insulin administration during refeeding by total parenteral nutrition in rats. ( 29593193 )
2018
4
X-linked hypophosphatemia and FGF23-related hypophosphatemic diseases -Prospect for new treatment. ( 29381780 )
2018
5
Reply: Hypophosphatemia, Severe Bone Pain, Gait Disturbance, and Fatigue Fractures After Iron Substitution in Inflammatory Bowel Disease: A Case Report. ( 29314243 )
2018
6
Burosumab Therapy in Children with X-Linked Hypophosphatemia. ( 29791829 )
2018
7
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. ( 29505567 )
2018
8
Fibroblast Growth Factor 23-Induced Hypophosphatemia in Acute Leukemia. ( 29696242 )
2018
9
Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome. ( 29746006 )
2018
10
Prevention of hypophosphatemia during continuous renal replacement therapy-An overlooked problem. ( 29405468 )
2018
11
Hypophosphatemia as a sign of malnutrition in older hospitalized patients. ( 29967545 )
2018
12
Respiratory failure in a diabetic ketoacidosis patient with severe hypophosphatemia. ( 29969883 )
2018
13
Impaired mineral quality in dentin in X-linked hypophosphatemia. ( 29745817 )
2018
14
Hypercalcemia and hypophosphatemia among preterm infants receiving aggressive parenteral nutrition. ( 29756708 )
2018
15
Three-Month Randomized Clinical Trial of Nasal Calcitonin in Adults with X-linked Hypophosphatemia. ( 29383408 )
2018
16
Association Between Iron-Deficiency Anemia and Hypophosphatemia. ( 29031590 )
2018
17
Early hypophosphatemia in very low birth weight preterm infants. ( 29790700 )
2018
18
Hypophosphatemia as a Predictor of Organ-Specific Complications Following Gastrointestinal Surgery: Analysis of 8034 Patients. ( 29955938 )
2018
19
Hypophosphatemia and duration of respiratory failure and mortality in critically ill patients. ( 29687440 )
2018
20
A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis. ( 29947083 )
2018
21
Hypophosphatemia ( 29630224 )
2018
22
Hypophosphatemia in the setting of metabolic bone disease: case reports and diagnostic algorithm. ( 30023010 )
2018
23
Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation. ( 30373874 )
2018
24
Severe hypophosphatemia induced by denosumab in a patient with osteomalacia and tenofovir disoproxil fumarate-related acquired Fanconi syndrome. ( 30171299 )
2018
25
Ibuprofen Abuse-A Case of Rhabdomyolysis, Hypokalemia, and Hypophosphatemia With Drug-Induced Mixed Renal Tubular Acidosis. ( 30197993 )
2018
26
Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures. ( 28880715 )
2018
27
Suitability of oral administration of monosodium phosphate, disodium phosphate, and magnesium phosphate for the rapid correction of hypophosphatemia in cattle. ( 29572937 )
2018
28
Burosumab: At Long Last, an Effective Treatment for FGF23-Associated Hypophosphatemia. ( 29989668 )
2018
29
Early Hypophosphatemia in High-Risk Preterm Infants: Efficacy and Safety of Sodium Glycerophosphate From First Day on Parenteral Nutrition. ( 30070716 )
2018
30
Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports. ( 30075510 )
2018
31
Qualitative Research to Explore the Patient Experience of X-Linked Hypophosphatemia and Evaluate the Suitability of the BPI-SF and WOMAC® as Clinical Trial End Points. ( 30098676 )
2018
32
Yield of diagnostic tests in unexplained renal hypophosphatemia: a case series. ( 30180816 )
2018
33
Hypophosphatemia Regulates Molecular Mechanisms of Circadian Rhythm. ( 30213970 )
2018
34
Correction to: Hypophosphatemia as a Predictor of Organ-Specific Complications Following Gastrointestinal Surgery: Analysis of 8034 Patients. ( 30406321 )
2018
35
Burosumab in X-linked hypophosphatemia: a profile of its use in the USA. ( 30459508 )
2018
36
Randomized trial of intravenous iron-induced hypophosphatemia. ( 30518682 )
2018
37
Impact of Conventional Medical Therapy on Bone Mineral Density and Bone Turnover in Adult Patients with X-Linked Hypophosphatemia: A 6-Year Prospective Cohort Study. ( 29143140 )
2017
38
Dental management of patients with X-linked hypophosphatemia. ( 28503481 )
2017
39
Correction to: X-linked hypophosphatemia and growth. ( 29110236 )
2017
40
Therapeutic Effects of FGF23 c-tail Fc in a Murine Preclinical Model of X-Linked Hypophosphatemia Via the Selective Modulation of Phosphate Reabsorption. ( 28600887 )
2017
41
Post-Transplant Hypophosphatemia and the Risk of Death-Censored Graft Failure and Mortality after Kidney Transplantation. ( 28546442 )
2017
42
Cardiovascular consequences of hypophosphatemia. ( 28497938 )
2017
43
Hypophosphatemia associated risk factors in pediatric intensive care patients. ( 29168361 )
2017
44
Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia. ( 28608052 )
2017
45
Comparison of calcimimetic R568 and calcitriol in mineral homeostasis in the Hyp mouse, a murine homolog of X-linked hypophosphatemia. ( 28728941 )
2017
46
Hypophosphatemia after nontraumatic intracranial hemorrhage. ( 28497591 )
2017
47
Corn-Soy-Blend Fortified with Phosphorus to Prevent Refeeding Hypophosphatemia in Undernourished Piglets. ( 28081252 )
2017
48
Severe Hypophosphatemia Following Denosumab Administration in a Hemodialysis Patient with Progressive Prostate Cancer. ( 28462158 )
2017
49
The influence of hypophosphatemia on outcomes of low- and high-intensity continuous renal replacement therapy in critically ill patients with acute kidney injury. ( 28904875 )
2017
50
Letter: inconsistency in reporting of hypophosphatemia after intravenous iron. ( 28805320 )
2017
Sources

Variations for Hypophosphatemia

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ClinVar genetic disease variations for Hypophosphatemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC9A3R1 NM_004252.4(SLC9A3R1): c.673G> A (p.Glu225Lys) single nucleotide variant Likely benign rs119486097 GRCh37 Chromosome 17, 72759575: 72759575
2 SLC9A3R1 NM_004252.4(SLC9A3R1): c.673G> A (p.Glu225Lys) single nucleotide variant Likely benign rs119486097 GRCh38 Chromosome 17, 74763436: 74763436
Sources

Expression for Hypophosphatemia

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Search GEO for disease gene expression data for Hypophosphatemia.
Sources

Pathways for Hypophosphatemia

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Pathways related to Hypophosphatemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Parathyroid hormone synthesis, secretion and action 37
11.05 BGLAP FGF23 PTH SLC34A1 SLC34A3
2
FGF signaling pathway 1
10.99 BGLAP FGF23
3
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
10.91 BGLAP PTH
4
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
10.75 BGLAP PTH
5
Osteoblast Signaling 1
10.28 BGLAP FGF23 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 extracellular space GO:0005615 9.73 BGLAP ENPP1 FAM20C FGF23 PTH SFRP4
2 vesicle GO:0031982 9.33 BGLAP SLC34A1 SLC34A3
3 endoplasmic reticulum lumen GO:0005788 9.26 BGLAP DMP1 FAM20C FGF23
4 extracellular region GO:0005576 9.23 BGLAP DMP1 DSPP ENPP1 FAM20C FGF23

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.84 DMP1 FAM20C FGF23 SLC34A1
2 response to mechanical stimulus GO:0009612 9.73 BGLAP DSPP ENPP1
3 ossification GO:0001503 9.73 BGLAP DMP1 DSPP SLC34A1
4 skeletal system development GO:0001501 9.72 BGLAP DSPP FAM20C PHEX PTH
5 bone mineralization GO:0030282 9.67 BGLAP PHEX PTH
6 regulation of bone mineralization GO:0030500 9.65 BGLAP ENPP1 FGF23
7 response to vitamin D GO:0033280 9.63 BGLAP PHEX PTH
8 ATP metabolic process GO:0046034 9.62 ENPP1 FAM20C
9 positive regulation of bone mineralization GO:0030501 9.62 FAM20C PTH
10 response to cadmium ion GO:0046686 9.61 PTH SLC34A1
11 response to lead ion GO:0010288 9.61 PTH SLC34A1
12 phosphate-containing compound metabolic process GO:0006796 9.6 ENPP1 FGF23
13 response to growth hormone GO:0060416 9.59 PHEX SLC34A1
14 response to magnesium ion GO:0032026 9.58 FGF23 SLC34A1
15 phosphate ion transport GO:0006817 9.58 SLC34A1 SLC34A3
16 cellular response to vitamin D GO:0071305 9.58 BGLAP FGF23 PHEX
17 sodium-dependent phosphate transport GO:0044341 9.57 SLC34A1 SLC34A3
18 response to parathyroid hormone GO:0071107 9.55 PTH SLC34A1
19 cellular response to parathyroid hormone stimulus GO:0071374 9.54 FGF23 PHEX SLC34A1
20 odontoblast differentiation GO:0071895 9.52 DSPP FAM20C
21 response to sodium phosphate GO:1904383 9.51 FGF23 PHEX
22 cellular phosphate ion homeostasis GO:0030643 9.46 ENPP1 FGF23 SLC34A1 SLC34A3
23 dentinogenesis GO:0097187 9.43 DSPP FAM20C SLC34A1
24 phosphate ion homeostasis GO:0055062 9.26 FGF23 PTH SFRP4 SLC34A1
25 biomineral tissue development GO:0031214 9.1 BGLAP DMP1 DSPP ENPP1 FAM20C PHEX

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.55 BGLAP DMP1 DSPP ENPP1 FAM20C
2 sodium:phosphate symporter activity GO:0005436 8.96 SLC34A1 SLC34A3
3 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A1 SLC34A3
Sources

Sources for Hypophosphatemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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