MCID: HYP017
MIFTS: 49

Hypophosphatemia

Categories: Bone diseases, Metabolic diseases

Aliases & Classifications for Hypophosphatemia

MalaCards integrated aliases for Hypophosphatemia:

Name: Hypophosphatemia 12 30 56 6 45 15 74

Classifications:



External Ids:

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

Summaries for Hypophosphatemia

Disease Ontology : 12 A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.

MalaCards based summary : Hypophosphatemia is related to dominant hypophosphatemia with nephrolithiasis or osteoporosis and hereditary hypophosphatemic rickets. An important gene associated with Hypophosphatemia is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and FGF signaling pathway. The drugs 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 : 77 Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood.... more...

Related Diseases for Hypophosphatemia

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

(show top 50) (show all 204)
# Related Disease Score Top Affiliating Genes
1 dominant hypophosphatemia with nephrolithiasis or osteoporosis 33.6 SLC34A1 SLC9A3R1
2 hereditary hypophosphatemic rickets 33.3 SLC34A1 SLC34A3
3 hypophosphatemic rickets, autosomal dominant 32.8 FGF23 PHEX SFRP4 SLC34A3
4 hypophosphatemic rickets, x-linked dominant 31.9 DMP1 FGF23 KL PHEX PTH SLC34A1
5 tumoral calcinosis, hyperphosphatemic, familial, 1 31.6 FGF23 KL
6 metaphyseal chondrodysplasia, jansen type 31.4 FGF23 PTH
7 autosomal recessive hypophosphatemic rickets 31.4 DMP1 ENPP1 FGF23 PHEX
8 oncogenic osteomalacia 31.3 DMP1 FGF23 PHEX PTH SFRP4
9 hypophosphatemic rickets, x-linked recessive 30.9 CLCN5 DMP1 ENPP1 FGF23 PHEX SFRP4
10 fanconi syndrome 30.4 CLCN5 SLC34A1
11 enthesopathy 30.4 DMP1 FGF23 PHEX
12 mccune-albright syndrome 30.1 BGLAP FGF23
13 raine syndrome 30.1 DMP1 FGF23
14 hypophosphatasia 30.0 ENPP1 PHEX
15 nephrolithiasis, calcium oxalate 29.9 CLCN5 SLC34A1
16 fibrous dysplasia 29.9 BGLAP FGF23
17 arterial calcification of infancy 29.8 ENPP1 FGF23 PHEX
18 hyperparathyroidism 29.7 BGLAP FGF23 PHEX PTH
19 hypoparathyroidism 29.6 BGLAP FGF23 PTH
20 bone disease 29.5 BGLAP FGF23 PTH SLC34A3
21 hypophosphatemic rickets with hypercalciuria, hereditary 29.4 DMP1 ENPP1 FGF23 KL PHEX PTH
22 calcinosis 29.3 ENPP1 FGF23 KL PHEX
23 nephrocalcinosis 29.3 CLCN5 PHEX PTH SLC34A1 SLC34A3
24 hyperphosphatemia 29.3 FGF23 KL PHEX PTH SLC34A1
25 primary hyperparathyroidism 29.2 BGLAP FGF23 PTH
26 osteomalacia 29.1 BGLAP DMP1 FGF23 PHEX PTH SFRP4
27 bone resorption disease 29.1 BGLAP PTH
28 nephrolithiasis 29.0 CLCN5 FGF23 PTH SLC34A1 SLC34A3 SLC9A3R1
29 rickets 28.6 BGLAP CLCN5 DMP1 ENPP1 FGF23 PHEX
30 osteoporosis 28.5 BGLAP FGF23 KL PTH SLC34A1 SLC9A3R1
31 cutaneous-skeletal hypophosphatemia syndrome 12.4
32 hypophosphatemia, renal, with intracerebral calcifications 12.1
33 hypophosphatemic rickets, autosomal recessive, 1 12.0
34 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.8
35 hypophosphatemic rickets, autosomal recessive, 2 11.6
36 vitamin d hydroxylation-deficient rickets, type 1a 11.5
37 panostotic fibrous dysplasia 11.4
38 thyrotoxic periodic paralysis 11.3
39 exostoses, multiple, type i 11.0
40 fanconi renotubular syndrome 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 hypokalemia 10.3
49 leukemia 10.3
50 respiratory failure 10.3

Graphical network of the top 20 diseases related to Hypophosphatemia:



Diseases related to Hypophosphatemia

Symptoms & Phenotypes for Hypophosphatemia

MGI Mouse Phenotypes related to Hypophosphatemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 CLCN5 DMP1 ENPP1 FGF23 KL PHEX
2 homeostasis/metabolism MP:0005376 10 CLCN5 DMP1 ENPP1 FGF23 KL PHEX
3 cardiovascular system MP:0005385 9.98 DMP1 ENPP1 FGF23 KL PHEX PTH
4 digestive/alimentary MP:0005381 9.85 FGF23 KL PHEX SFRP4 SLC34A3 SLC9A3R1
5 craniofacial MP:0005382 9.8 CLCN5 DMP1 KL PHEX PTH
6 limbs/digits/tail MP:0005371 9.7 DMP1 ENPP1 FGF23 KL PHEX PTH
7 renal/urinary system MP:0005367 9.65 CLCN5 DMP1 ENPP1 FGF23 KL PHEX
8 skeleton MP:0005390 9.36 CLCN5 DMP1 ENPP1 FGF23 KL PHEX

Drugs & Therapeutics for Hypophosphatemia

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
Zinc Approved, Investigational Phase 4 7440-66-6 32051
2
Insulin glargine Approved Phase 4 160337-95-1
3
Iron Approved, Experimental Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable 7439-89-6, 15438-31-0 27284 23925
4
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable,Early Phase 1 1406-16-2
6
Calcitriol Approved, Nutraceutical Phase 4,Not Applicable,Early Phase 1 32222-06-3 5280453 134070
7
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 7440-70-2 271
8 Chelating Agents Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
9 Calciferol Phase 4,Phase 3,Not Applicable,Early Phase 1
10 Vitamins Phase 4,Phase 3,Not Applicable,Early Phase 1
11 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Trace Elements Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
13 Micronutrients Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
14 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
15 Nutrients Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
16 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Locust bean gum Phase 4
19 Polystyrene sulfonic acid Phase 4
20 Hypoglycemic Agents Phase 4
21 Insulin, Globin Zinc Phase 4
22 insulin Phase 4
23 Brewer's Yeast Phase 4
24 Vasoconstrictor Agents Phase 4,Phase 1,Phase 2,Early Phase 1
25 Ferric Compounds Phase 4,Phase 3,Phase 2
26 Hematinics Phase 4,Phase 3,Phase 2,Not Applicable
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
Sorafenib Approved, Investigational Phase 3,Phase 1 284461-73-0 216239 406563
30
Sevelamer Approved Phase 3,Phase 2 52757-95-6
31
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
32
Tenofovir Approved, Experimental, Investigational Phase 3,Phase 2 147127-20-6 464205
33
Ritonavir Approved, Investigational Phase 3 155213-67-5 392622
34
Lopinavir Approved Phase 3 192725-17-0 92727
35
Axitinib Approved, Investigational Phase 3 319460-85-0 6450551
36
Carboplatin Approved Phase 3,Phase 2 41575-94-4 10339178 38904 498142
37
leucovorin Approved Phase 3,Phase 2,Not Applicable 58-05-9 143 6006
38
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 2767 441203 84093
39
Crizotinib Approved Phase 3,Phase 1 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
40
Pemetrexed Approved, Investigational Phase 3,Phase 2 150399-23-8, 137281-23-3 60843 446556
41
Adefovir dipivoxil Approved, Investigational Phase 3 142340-99-6 60871
42
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Not Applicable 59-30-3 6037
44
Adefovir Investigational Phase 3 106941-25-7
45 Mitogens Phase 3,Phase 2,Phase 1,Not Applicable
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
47 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 2,Phase 1
50 Ergocalciferols Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 107)
# 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 Using Different Doses of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia Recruiting NCT03820518 Phase 4 Calcitriol
5 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
6 A Study Comparing the Iron Substitution With the Medicinal Products Ferinject or Monofer Active, not recruiting NCT02905539 Phase 4 Iron Isomaltoside 1000;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-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 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
12 Treatment of Autonomous Hyperparathyroidism in Post Renal Transplant Recipients Completed NCT00975000 Phase 3 Cinacalcet;Placebo
13 Emtricitabine/Tenofovir Disoproxil Fumarate for HIV Prevention in Men Completed NCT00458393 Phase 3 daily TDF/FTC;Placebo
14 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
15 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
16 Axitinib (AG 013736) As Second Line Therapy For Metastatic Renal Cell Cancer Completed NCT00678392 Phase 3 Axitinib (AG-013736);Sorafenib
17 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
18 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
19 Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH Recruiting NCT03920072 Phase 3 Burosumab
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 Burosumab (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 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Active, not recruiting NCT03581591 Phase 3
23 A Phase 3 Study of Tenapanor to Treat Hyperphosphatemia in ESRD Patients on Dialysis Active, not recruiting NCT03427125 Phase 3 Tenapanor;Placebo;Sevelamer Carbonate
24 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
25 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)
26 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
27 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
28 Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Completed NCT02163577 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 The Effects of Sevelamer Carbonate on Diabetic Nephropathy Completed NCT01493050 Phase 2 Sevelamer Carbonate;calcium carbonate
33 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
34 Cixutumumab and Temsirolimus in Treating Patients With Locally Recurrent or Metastatic Breast Cancer Completed NCT00699491 Phase 1, Phase 2 Temsirolimus
35 Cetuximab and Lenalidomide in Head and Neck Completed NCT01133665 Phase 2 Cetuximab and Lenalidomide
36 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
37 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®)
38 Washington Study of Hemofiltration After Out-of-Hospital Cardiac Arrest Completed NCT01509040 Phase 1, Phase 2
39 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Recruiting NCT03510455 Phase 2 BGJ398
40 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
41 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
42 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
43 Study of CCNU (Lomustine) Plus Dasatinib in Recurrent Glioblastoma (GBM) Terminated NCT00948389 Phase 1, Phase 2 Dasatinib;Lomustine
44 Single-Agent Glasdegib In Patients With Myelofibrosis Previously Treated With Ruxolitinib Terminated NCT02226172 Phase 2 Glasdegib (PF-04449913);Placebo
45 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
46 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
47 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
48 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
49 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
50 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

Search NIH Clinical Center for Hypophosphatemia

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


Cochrane evidence based reviews: hypophosphatemia

Genetic Tests for Hypophosphatemia

Genetic tests related to Hypophosphatemia:

# Genetic test Affiliating Genes
1 Hypophosphatemia 30

Anatomical Context for Hypophosphatemia

MalaCards organs/tissues related to Hypophosphatemia:

42
Bone, Kidney, Liver, Myeloid, Lung, Prostate, Breast

Publications for Hypophosphatemia

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
Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome. ( 29746006 )
2019
3
Severe hypophosphatemia induced by denosumab in a patient with osteomalacia and tenofovir disoproxil fumarate-related acquired Fanconi syndrome. ( 30171299 )
2019
4
Hypophosphatemia as a Predictor of Organ-Specific Complications Following Gastrointestinal Surgery: Analysis of 8034 Patients. ( 29955938 )
2019
5
Hypophosphatemia as a sign of malnutrition in older hospitalized patients. ( 29967545 )
2019
6
Early Hypophosphatemia in High-Risk Preterm Infants: Efficacy and Safety of Sodium Glycerophosphate From First Day on Parenteral Nutrition. ( 30070716 )
2019
7
Correction to: Hypophosphatemia as a Predictor of Organ-Specific Complications Following Gastrointestinal Surgery: Analysis of 8034 Patients. ( 30406321 )
2019
8
Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia. ( 30607568 )
2019
9
Joint replacement in X-linked hypophosphatemia. ( 30662239 )
2019
10
Hypophosphatemia is Prevalent among Preterm Infants Less than 1,500 Grams. ( 30665240 )
2019
11
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. ( 30682568 )
2019
12
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
13
X-linked hypophosphatemia: Management and treatment prospects. ( 30711691 )
2019
14
Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score. ( 30772600 )
2019
15
FGF23 and its role in X-linked hypophosphatemia-related morbidity. ( 30808384 )
2019
16
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
17
Oral symptoms and oral health-related quality of life of individuals with x-linked hypophosphatemia. ( 30904023 )
2019
18
Phosphate supplementation for hypophosphatemia during continuous renal replacement therapy in adults. ( 30909778 )
2019
19
Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signaling. ( 30920082 )
2019
20
Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH). ( 30928313 )
2019
21
Prosthetic rehabilitation of a patient with X-linked hypophosphatemia using dental implants: a case report and review of the literature. ( 31006822 )
2019
22
A novel heterozygous mutation c.680A>G (p. N227S) in SLC34A1 gene leading to autosomal dominant hypophosphatemia: A case report. ( 31096470 )
2019
23
Fibroblast Growth Factor 23-Induced Hypophosphatemia in Acute Leukemia. ( 29696242 )
2018
24
Hypophosphatemia in the setting of metabolic bone disease: case reports and diagnostic algorithm. ( 30023010 )
2018
25
Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation. ( 30373874 )
2018
26
Association Between Iron-Deficiency Anemia and Hypophosphatemia. ( 29031590 )
2018
27
Ibuprofen Abuse-A Case of Rhabdomyolysis, Hypokalemia, and Hypophosphatemia With Drug-Induced Mixed Renal Tubular Acidosis. ( 30197993 )
2018
28
Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures. ( 28880715 )
2018
29
Hypophosphatemia, Severe Bone Pain, Gait Disturbance, and Fatigue Fractures After Iron Substitution in Inflammatory Bowel Disease: A Case Report. ( 29068481 )
2018
30
Hormonal Regulation of Osteocyte Perilacunar and Canalicular Remodeling in the Hyp Mouse Model of X-Linked Hypophosphatemia. ( 29083055 )
2018
31
Aggressive Treatment of Life-Threatening Hypophosphatemia During Recovery From Fulminant Hepatic Failure: A Case Report. ( 29088996 )
2018
32
Evidence for a role of PDZ domain-containing proteins to mediate hypophosphatemia in calcium stone formers. ( 29126251 )
2018
33
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 )
2018
34
Re: Hypophosphatemia, Severe Bone Pain, Gait Disturbance, and Fatigue Fractures After Iron Substitution in Inflammatory Bowel Disease: A Case Report. ( 29281128 )
2018
35
Reply: Hypophosphatemia, Severe Bone Pain, Gait Disturbance, and Fatigue Fractures After Iron Substitution in Inflammatory Bowel Disease: A Case Report. ( 29314243 )
2018
36
X-Linked Hypophosphatemia and FGF23-Related Hypophosphatemic Diseases: Prospect for New Treatment. ( 29381780 )
2018
37
Three-Month Randomized Clinical Trial of Nasal Calcitonin in Adults with X-linked Hypophosphatemia. ( 29383408 )
2018
38
Prevention of hypophosphatemia during continuous renal replacement therapy-An overlooked problem. ( 29405468 )
2018
39
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. ( 29460029 )
2018
40
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. ( 29505567 )
2018
41
Suitability of oral administration of monosodium phosphate, disodium phosphate, and magnesium phosphate for the rapid correction of hypophosphatemia in cattle. ( 29572937 )
2018
42
Hypophosphatemia occurs with insulin administration during refeeding by total parenteral nutrition in rats. ( 29593193 )
2018
43
Hypophosphatemia and duration of respiratory failure and mortality in critically ill patients. ( 29687440 )
2018
44
Impaired mineral quality in dentin in X-linked hypophosphatemia. ( 29745817 )
2018
45
High-Dose Ferric Carboxymaltose in Patients With HFrEF Induces Significant Hypophosphatemia. ( 29747838 )
2018
46
Hypercalcemia and hypophosphatemia among preterm infants receiving aggressive parenteral nutrition. ( 29756708 )
2018
47
Early hypophosphatemia in very low birth weight preterm infants. ( 29790700 )
2018
48
Burosumab Therapy in Children with X-Linked Hypophosphatemia. ( 29791829 )
2018
49
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
50
Respiratory failure in a diabetic ketoacidosis patient with severe hypophosphatemia. ( 29969883 )
2018

Variations for Hypophosphatemia

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

Expression for Hypophosphatemia

Search GEO for disease gene expression data for Hypophosphatemia.

Pathways for Hypophosphatemia

GO Terms for Hypophosphatemia

Cellular components related to Hypophosphatemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.8 BGLAP ENPP1 FGF23 KL PTH SFRP4
2 extracellular region GO:0005576 9.8 BGLAP DMP1 ENPP1 FGF23 KL PTH
3 apical plasma membrane GO:0016324 9.46 KL SLC34A1 SLC34A3 SLC9A3R1
4 brush border membrane GO:0031526 9.13 SLC34A1 SLC34A3 SLC9A3R1
5 vesicle GO:0031982 8.92 BGLAP SLC34A1 SLC34A3 SLC9A3R1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.78 DMP1 FGF23 SLC34A1
2 skeletal system development GO:0001501 9.75 BGLAP PHEX PTH
3 ossification GO:0001503 9.71 BGLAP DMP1 SLC34A1
4 positive regulation of bone mineralization GO:0030501 9.6 KL PTH
5 response to cadmium ion GO:0046686 9.59 PTH SLC34A1
6 response to lead ion GO:0010288 9.58 PTH SLC34A1
7 regulation of bone mineralization GO:0030500 9.58 BGLAP ENPP1 FGF23
8 phosphate-containing compound metabolic process GO:0006796 9.57 ENPP1 FGF23
9 response to growth hormone GO:0060416 9.56 PHEX SLC34A1
10 response to magnesium ion GO:0032026 9.55 FGF23 SLC34A1
11 response to vitamin D GO:0033280 9.54 BGLAP PHEX PTH
12 phosphate ion transport GO:0006817 9.52 SLC34A1 SLC34A3
13 sodium-dependent phosphate transport GO:0044341 9.51 SLC34A1 SLC34A3
14 cellular response to vitamin D GO:0071305 9.5 BGLAP FGF23 PHEX
15 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.49 FGF23 KL
16 response to parathyroid hormone GO:0071107 9.48 PTH SLC34A1
17 response to sodium phosphate GO:1904383 9.46 FGF23 PHEX
18 biomineral tissue development GO:0031214 9.46 BGLAP DMP1 ENPP1 PHEX
19 bone mineralization GO:0030282 9.43 BGLAP PHEX
20 cellular response to parathyroid hormone stimulus GO:0071374 9.43 FGF23 PHEX SLC34A1
21 phosphate ion homeostasis GO:0055062 9.26 FGF23 PTH SFRP4 SLC34A1
22 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 fibroblast growth factor receptor binding GO:0005104 9.16 FGF23 KL
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 for Hypophosphatemia

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
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47 MGI
50 NCI
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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
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