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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 30 56 6 45 15 74

Classifications:

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


External Ids:

Disease Ontology 12 DOID:0050336
MeSH 45 D017674
UMLS 74 C0085682
Sources

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 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 : 77 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 189)
# Related Disease Score Top Affiliating Genes
1 dominant hypophosphatemia with nephrolithiasis or osteoporosis 33.5 SLC34A1 SLC9A3R1
2 hereditary hypophosphatemic rickets 33.2 SLC34A1 SLC34A3
3 hypophosphatemic rickets, autosomal dominant 32.3 FGF23 MEPE PHEX SFRP4 SLC34A3
4 hypophosphatemic rickets, x-linked dominant 32.3 DMP1 FGF23 PHEX PTH SLC34A1 SLC34A3
5 metaphyseal chondrodysplasia, jansen type 31.4 FGF23 PTH
6 autosomal recessive hypophosphatemic rickets 31.4 DMP1 ENPP1 FGF23 PHEX
7 oncogenic osteomalacia 30.8 DMP1 FGF23 MEPE PHEX PTH SFRP4
8 hypophosphatemic rickets, x-linked recessive 30.4 CLCN5 DMP1 ENPP1 FGF23 MEPE PHEX
9 fanconi syndrome 30.4 CLCN5 SLC34A1
10 enthesopathy 30.3 DMP1 FGF23 PHEX
11 mccune-albright syndrome 30.1 BGLAP FGF23
12 raine syndrome 30.1 DMP1 FGF23
13 hypophosphatasia 30.0 ENPP1 PHEX
14 fibrous dysplasia 29.9 BGLAP FGF23
15 nephrolithiasis, calcium oxalate 29.9 CLCN5 SLC34A1
16 calcinosis 29.8 ENPP1 FGF23 PHEX
17 arterial calcification of infancy 29.8 ENPP1 FGF23 PHEX
18 hyperphosphatemia 29.7 FGF23 PHEX PTH SLC34A1
19 hyperparathyroidism 29.7 BGLAP FGF23 PHEX PTH
20 hypoparathyroidism 29.6 BGLAP FGF23 PTH
21 bone disease 29.4 BGLAP FGF23 PTH SLC34A3
22 hypophosphatemic rickets with hypercalciuria, hereditary 29.4 DMP1 ENPP1 FGF23 MEPE PHEX PTH
23 nephrocalcinosis 29.3 CLCN5 PHEX PTH SLC34A1 SLC34A3
24 bone resorption disease 29.2 BGLAP PTH
25 primary hyperparathyroidism 29.2 BGLAP FGF23 PTH
26 osteomalacia 29.1 BGLAP DMP1 FGF23 PHEX PTH SFRP4
27 nephrolithiasis 29.0 CLCN5 FGF23 PTH SLC34A1 SLC34A3 SLC9A3R1
28 rickets 28.6 BGLAP CLCN5 DMP1 ENPP1 FGF23 PHEX
29 osteoporosis 28.4 BGLAP FGF23 MEPE PTH SLC34A1 SLC9A3R1
30 cutaneous-skeletal hypophosphatemia syndrome 12.4
31 hypophosphatemia, renal, with intracerebral calcifications 12.1
32 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.8
33 hypophosphatemic rickets, autosomal recessive, 1 11.7
34 hypophosphatemic rickets, autosomal recessive, 2 11.6
35 vitamin d hydroxylation-deficient rickets, type 1a 11.4
36 panostotic fibrous dysplasia 11.4
37 thyrotoxic periodic paralysis 11.3
38 exostoses, multiple, type i 11.0
39 fanconi renotubular syndrome 1 11.0
40 tumoral calcinosis, hyperphosphatemic, familial, 1 11.0
41 dent disease 1 11.0
42 lowe oculocerebrorenal syndrome 11.0
43 nephrolithiasis/osteoporosis, hypophosphatemic, 2 11.0
44 tumoral calcinosis, hyperphosphatemic, familial, 2 11.0
45 tumoral calcinosis, hyperphosphatemic, familial, 3 11.0
46 opsismodysplasia 10.3 FGF23 PHEX
47 anorexia nervosa 10.3
48 familial tumoral calcinosis 10.3 FGF23 PHEX
49 hypokalemia 10.3
50 leukemia 10.3

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 CLCN5 DMP1 ENPP1 FGF23 PHEX PTH
2 homeostasis/metabolism MP:0005376 9.96 CLCN5 DMP1 ENPP1 FGF23 PHEX PTH
3 limbs/digits/tail MP:0005371 9.63 DMP1 ENPP1 FGF23 PHEX PTH SFRP4
4 renal/urinary system MP:0005367 9.61 CLCN5 DMP1 ENPP1 FGF23 PHEX SFRP4
5 skeleton MP:0005390 9.36 CLCN5 DMP1 ENPP1 FGF23 MEPE 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 199)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 7439-89-6, 15438-31-0 23925 27284
2
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
3
Insulin glargine Approved Phase 4 160337-95-1
4
Zinc Approved, Investigational Phase 4 7440-66-6 32051
5
Calcitriol Approved, Nutraceutical Phase 4,Not Applicable,Early Phase 1 32222-06-3 134070 5280453
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable,Early Phase 1 1406-16-2
7
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 7440-70-2 271
8 Calciferol Phase 4,Phase 3,Not Applicable,Early Phase 1
9 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
10 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
11 Nutrients Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
12 Trace Elements Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
13 Vitamins Phase 4,Phase 3,Not Applicable,Early Phase 1
14 Micronutrients Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
15 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
16 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Chelating Agents Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
18 Vasoconstrictor Agents Phase 4,Phase 1,Phase 2,Early Phase 1
19 Ferric Compounds Phase 4,Phase 3,Phase 2
20 Hematinics Phase 4,Phase 3,Phase 2,Not Applicable
21 Locust bean gum Phase 4
22 Polystyrene sulfonic acid Phase 4
23 Brewer's Yeast Phase 4
24 Hypoglycemic Agents Phase 4
25 insulin Phase 4
26 Insulin, Globin Zinc Phase 4
27
Parathyroid hormone Approved, Investigational Phase 3,Phase 1,Early Phase 1 9002-64-6
28
Cinacalcet Approved Phase 3,Phase 1,Not Applicable 226256-56-0 156419
29
Sevelamer Approved Phase 3,Phase 2 52757-95-6
30
Sorafenib Approved, Investigational Phase 3,Phase 1 284461-73-0 216239 406563
31
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
32
Lopinavir Approved Phase 3 192725-17-0 92727
33
Ritonavir Approved, Investigational Phase 3 155213-67-5 392622
34
Axitinib Approved, Investigational Phase 3 319460-85-0 6450551
35
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 441203 84093 2767
36
Crizotinib Approved Phase 3,Phase 1 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
37
leucovorin Approved Phase 3,Phase 2,Not Applicable 58-05-9 6006 143
38
Carboplatin Approved Phase 3,Phase 2 41575-94-4 38904 10339178 498142
39
Pemetrexed Approved, Investigational Phase 3,Phase 2 150399-23-8, 137281-23-3 60843 446556
40
Adefovir Dipivoxil Approved, Investigational Phase 3 142340-99-6 60871
41
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
42
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Not Applicable 59-30-3 6037
43
Tenofovir Experimental, Investigational Phase 3,Phase 2 147127-20-6 464205
44
Adefovir Investigational Phase 3 106941-25-7
45 Mitogens Phase 3,Phase 2,Phase 1,Not Applicable
46 Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
47 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
48 Calcimimetic Agents Phase 3,Phase 1,Not Applicable
49 Protein Kinase Inhibitors Phase 3,Phase 1,Phase 2
50 Ergocalciferols Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 106)
# 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 Using Different Doses of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia Recruiting NCT03820518 Phase 4 Calcitriol
3 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
4 A Study Comparing the Iron Substitution With the Medicinal Products Ferinject or Monofer Recruiting NCT02905539 Phase 4 Iron Isomaltoside 1000;Ferric Carboxymaltose
5 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
6 Insulin in Total Parenteral Nutrition Completed NCT02706119 Phase 4 Subcutaneous glargine insulin;Regular insulin added to TPN bag
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-05) Completed NCT03237065 Phase 3 Iron Isomaltoside (Monofer);Ferric carboxymaltose
8 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
9 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
10 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
11 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
12 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
13 Treatment of Autonomous Hyperparathyroidism in Post Renal Transplant Recipients Completed NCT00975000 Phase 3 Cinacalcet;Placebo
14 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Active, not recruiting NCT03581591 Phase 3
15 A Phase 3 Study of Tenapanor to Treat Hyperphosphatemia in ESRD Patients on Dialysis Active, not recruiting NCT03427125 Phase 3 Tenapanor;Placebo;Sevelamer Carbonate
16 Lanthanum Carbonate (Fosrenol®) to Reduce Oxalate Excretion in Patients With Secondary Hyperoxaluria and Nephrolithiasis Recruiting NCT03346369 Phase 3 Lanthanum Carbonate
17 Emtricitabine/Tenofovir Disoproxil Fumarate for HIV Prevention in Men Completed NCT00458393 Phase 3 daily TDF/FTC;Placebo
18 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
19 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
20 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
21 Axitinib (AG 013736) As Second Line Therapy For Metastatic Renal Cell Cancer Completed NCT00678392 Phase 3 Axitinib (AG-013736);Sorafenib
22 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
23 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
24 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)
25 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
26 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
27 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
28 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
29 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Completed NCT02312687 Phase 2
30 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
31 Extended Safety Study of Tenofovir Disoproxil Fumarate (TDF) Among HIV-1 Negative Men Completed NCT00131677 Phase 2 tenofovir disoproxil fumarate;placebo
32 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Recruiting NCT03510455 Phase 2 BGJ398
33 The Effects of Sevelamer Carbonate on Diabetic Nephropathy Completed NCT01493050 Phase 2 Sevelamer Carbonate;calcium carbonate
34 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
35 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
36 Cixutumumab and Temsirolimus in Treating Patients With Locally Recurrent or Metastatic Breast Cancer Completed NCT00699491 Phase 1, Phase 2 Temsirolimus
37 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
38 Study of CCNU (Lomustine) Plus Dasatinib in Recurrent Glioblastoma (GBM) Terminated NCT00948389 Phase 1, Phase 2 Dasatinib;Lomustine
39 Single-Agent Glasdegib In Patients With Myelofibrosis Previously Treated With Ruxolitinib Terminated NCT02226172 Phase 2 Glasdegib (PF-04449913);Placebo
40 Cetuximab and Lenalidomide in Head and Neck Completed NCT01133665 Phase 2 Cetuximab and Lenalidomide
41 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
42 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®)
43 Washington Study of Hemofiltration After Out-of-Hospital Cardiac Arrest Completed NCT01509040 Phase 1, Phase 2
44 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
45 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
46 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
47 Mechanistic Evaluation on Sorafenib Induced Hypophosphatemia. Terminated NCT00622479 Phase 1 Sorafenib (Nexavar, BAY43-9006)
48 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
49 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1 Osteomalacia
50 A Study of PF-04217903 in Patients With Advanced Cancer Terminated NCT00706355 Phase 1 PF-04217903

Search NIH Clinical Center for Hypophosphatemia

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30
Sources

Anatomical Context for Hypophosphatemia

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MalaCards organs/tissues related to Hypophosphatemia:

42
Bone, Kidney, Liver, Lung, Myeloid, Breast, Skeletal Muscle
Sources

Publications for Hypophosphatemia

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Articles related to Hypophosphatemia:

(show top 50) (show all 852)
# Title Authors Year
1
Hypocalcemia and hypophosphatemia after treatment with zoledronic acid in a patient with AL amyloidosis. ( 30771083 )
2019
2
Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score. ( 30772600 )
2019
3
FGF23 and its role in X-linked hypophosphatemia-related morbidity. ( 30808384 )
2019
4
First-in-Asian Phase I Study of the Anti-Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X-linked Hypophosphatemia. ( 30828689 )
2019
5
Oral symptoms and oral health-related quality of life of individuals with x-linked hypophosphatemia. ( 30904023 )
2019
6
Phosphate supplementation for hypophosphatemia during continuous renal replacement therapy in adults. ( 30909778 )
2019
7
Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia. ( 30607568 )
2019
8
Joint replacement in X-linked hypophosphatemia. ( 30662239 )
2019
9
Hypophosphatemia is Prevalent among Preterm Infants Less than 1,500 Grams. ( 30665240 )
2019
10
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. ( 30682568 )
2019
11
Elevated Bone Remodeling Markers of CTX and P1NP in Addition to Sclerostin in Patients with X-linked Hypophosphatemia: A Cross-Sectional Controlled Study. ( 30710161 )
2019
12
X-Linked Hypophosphatemia: Management and Treatment Prospects. ( 30711691 )
2019
13
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. ( 29460029 )
2018
14
High-Dose Ferric Carboxymaltose in Patients With HFrEF Induces Significant Hypophosphatemia. ( 29747838 )
2018
15
Hypophosphatemia occurs with insulin administration during refeeding by total parenteral nutrition in rats. ( 29593193 )
2018
16
X-linked hypophosphatemia and FGF23-related hypophosphatemic diseases -Prospect for new treatment. ( 29381780 )
2018
17
Reply: Hypophosphatemia, Severe Bone Pain, Gait Disturbance, and Fatigue Fractures After Iron Substitution in Inflammatory Bowel Disease: A Case Report. ( 29314243 )
2018
18
Burosumab Therapy in Children with X-Linked Hypophosphatemia. ( 29791829 )
2018
19
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. ( 29505567 )
2018
20
Fibroblast Growth Factor 23-Induced Hypophosphatemia in Acute Leukemia. ( 29696242 )
2018
21
Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome. ( 29746006 )
2018
22
Prevention of hypophosphatemia during continuous renal replacement therapy-An overlooked problem. ( 29405468 )
2018
23
Hypophosphatemia as a sign of malnutrition in older hospitalized patients. ( 29967545 )
2018
24
Respiratory failure in a diabetic ketoacidosis patient with severe hypophosphatemia. ( 29969883 )
2018
25
Impaired mineral quality in dentin in X-linked hypophosphatemia. ( 29745817 )
2018
26
Hypercalcemia and hypophosphatemia among preterm infants receiving aggressive parenteral nutrition. ( 29756708 )
2018
27
Three-Month Randomized Clinical Trial of Nasal Calcitonin in Adults with X-linked Hypophosphatemia. ( 29383408 )
2018
28
Association Between Iron-Deficiency Anemia and Hypophosphatemia. ( 29031590 )
2018
29
Early hypophosphatemia in very low birth weight preterm infants. ( 29790700 )
2018
30
Hypophosphatemia as a Predictor of Organ-Specific Complications Following Gastrointestinal Surgery: Analysis of 8034 Patients. ( 29955938 )
2018
31
Hypophosphatemia and duration of respiratory failure and mortality in critically ill patients. ( 29687440 )
2018
32
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
33
Hypophosphatemia ( 29630224 )
2018
34
Suitability of oral administration of monosodium phosphate, disodium phosphate, and magnesium phosphate for the rapid correction of hypophosphatemia in cattle. ( 29572937 )
2018
35
Hypophosphatemia in the setting of metabolic bone disease: case reports and diagnostic algorithm. ( 30023010 )
2018
36
Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation. ( 30373874 )
2018
37
Severe hypophosphatemia induced by denosumab in a patient with osteomalacia and tenofovir disoproxil fumarate-related acquired Fanconi syndrome. ( 30171299 )
2018
38
Ibuprofen Abuse-A Case of Rhabdomyolysis, Hypokalemia, and Hypophosphatemia With Drug-Induced Mixed Renal Tubular Acidosis. ( 30197993 )
2018
39
Hypophosphatemia before endoscopic gastrostomy predicts higher mortality during the first week and first month post-gastrostomy: a risk marker of refeeding syndrome in gastrostomy-fed patients. ( 30810047 )
2018
40
Burosumab: At Long Last, an Effective Treatment for FGF23-Associated Hypophosphatemia. ( 29989668 )
2018
41
Early Hypophosphatemia in High-Risk Preterm Infants: Efficacy and Safety of Sodium Glycerophosphate From First Day on Parenteral Nutrition. ( 30070716 )
2018
42
Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports. ( 30075510 )
2018
43
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
44
Yield of diagnostic tests in unexplained renal hypophosphatemia: a case series. ( 30180816 )
2018
45
Hypophosphatemia Regulates Molecular Mechanisms of Circadian Rhythm. ( 30213970 )
2018
46
Correction to: Hypophosphatemia as a Predictor of Organ-Specific Complications Following Gastrointestinal Surgery: Analysis of 8034 Patients. ( 30406321 )
2018
47
Burosumab in X-linked hypophosphatemia: a profile of its use in the USA. ( 30459508 )
2018
48
Randomized trial of intravenous iron-induced hypophosphatemia. ( 30518682 )
2018
49
Efficacy and safety of a phosphate replacement strategy for severe hypophosphatemia in the ICU. ( 30569887 )
2018
50
Vibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia. ( 30719271 )
2018
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 38
11.13 BGLAP FGF23 PTH SLC34A1 SLC34A3 SLC9A3R1
2
FGF signaling pathway 1
10.99 BGLAP FGF23
3
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
10.91 BGLAP PTH
4
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
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 region GO:0005576 9.8 BGLAP DMP1 ENPP1 FGF23 MEPE PTH
2 endoplasmic reticulum lumen GO:0005788 9.46 BGLAP DMP1 FGF23 MEPE
3 brush border membrane GO:0031526 9.13 SLC34A1 SLC34A3 SLC9A3R1
4 vesicle GO:0031982 8.92 BGLAP SLC34A1 SLC34A3 SLC9A3R1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.8 DMP1 FGF23 MEPE SLC34A1
2 skeletal system development GO:0001501 9.73 BGLAP MEPE PHEX PTH
3 ossification GO:0001503 9.72 BGLAP DMP1 SLC34A1
4 bone mineralization GO:0030282 9.63 BGLAP PHEX PTH
5 response to cadmium ion GO:0046686 9.59 PTH SLC34A1
6 response to lead ion GO:0010288 9.58 PTH SLC34A1
7 phosphate-containing compound metabolic process GO:0006796 9.58 ENPP1 FGF23
8 regulation of bone mineralization GO:0030500 9.58 BGLAP ENPP1 FGF23
9 response to growth hormone GO:0060416 9.57 PHEX SLC34A1
10 response to magnesium ion GO:0032026 9.56 FGF23 SLC34A1
11 biomineral tissue development GO:0031214 9.55 BGLAP DMP1 ENPP1 MEPE PHEX
12 phosphate ion transport GO:0006817 9.54 SLC34A1 SLC34A3
13 response to vitamin D GO:0033280 9.54 BGLAP PHEX PTH
14 sodium-dependent phosphate transport GO:0044341 9.52 SLC34A1 SLC34A3
15 response to parathyroid hormone GO:0071107 9.51 PTH SLC34A1
16 cellular response to vitamin D GO:0071305 9.5 BGLAP FGF23 PHEX
17 response to sodium phosphate GO:1904383 9.48 FGF23 PHEX
18 cellular response to parathyroid hormone stimulus GO:0071374 9.43 FGF23 PHEX SLC34A1
19 phosphate ion homeostasis GO:0055062 9.26 FGF23 PTH SFRP4 SLC34A1
20 cellular phosphate ion homeostasis GO:0030643 9.02 ENPP1 FGF23 SLC34A1 SLC34A3 SLC9A3R1

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

# Name GO ID Score Top Affiliating Genes
1 sodium:phosphate symporter activity GO:0005436 8.96 SLC34A1 SLC34A3
2 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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