Details of Disease

General Information of Disease (ID: DIS9DZYF)

• Disease Name: Hypophosphatemia
• Synonyms: hypophosphatemia (disease); hypophosphatemia
• Definition: Lower than normal levels of phosphates in the circulating blood.
• Disease Hierarchy:
  DIS4VC27: Phosphorus metabolism disease
  DIS9DZYF: Hypophosphatemia
• Disease Identifiers:
  MONDO ID: MONDO_0000313
  MESH ID: D017674
  UMLS CUI: C0085682
  MedGen ID: 39327
  HPO ID: HP:0002148
  SNOMED CT ID: 4996001

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 3 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Calcidiol	DMN4CV5	Approved	Small molecular drug	[1]
Calcitriol	DM8ZVJ7	Approved	Small molecular drug	[2]
Dihydrotachysterol	DMFB97P	Approved	Small molecular drug	[3]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR1	TTRLW2X	Limited	Biomarker	[4]
PTH	TT6F7GZ	Limited	Biomarker	[5]
FGF23	TT2IZ4K	moderate	Biomarker	[6]
NR1I2	TT7LCTF	moderate	Biomarker	[7]
DTL	TT8396I	Strong	Altered Expression	[8]
ENPP1	TTZTIWS	Strong	Genetic Variation	[9]
SFRP4	TTX8I1Y	Strong	Biomarker	[10]
VDR	TTK59TV	Strong	Genetic Variation	[11]

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC34A3	DTKS517	Limited	Genetic Variation	[12]
SLC20A2	DTFD4VB	Strong	Altered Expression	[13]
SLC2A2	DTUJPOL	Strong	Biomarker	[14]
SLC34A1	DT42EWA	Strong	Genetic Variation	[15]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GPT	DER5HFI	Strong	Biomarker	[16]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHEX	OTG7N3J7	Limited	Genetic Variation	[17]
ACOT8	OTHY684G	Strong	Altered Expression	[18]
ALG13	OTOH9PMY	Strong	CausalMutation	[19]
ANKH	OTCN25R5	Strong	Genetic Variation	[20]
AQP2	OTQLBKK6	Strong	Biomarker	[21]
AZI2	OT61Q7Q8	Strong	Altered Expression	[18]
CORO7	OTG7MEAJ	Strong	Biomarker	[22]
FAM20C	OTW5YZ7X	Strong	Altered Expression	[23]
MEPE	OTXJRUW0	Strong	Biomarker	[10]
NAA25	OTS3QVF1	Strong	Altered Expression	[18]
NAP1L1	OTI7WBZV	Strong	Altered Expression	[18]
NCKAP1	OTEZQXXJ	Strong	Altered Expression	[18]
TAB3	OT1ECMDL	Strong	Altered Expression	[18]
TRMO	OTNJ7K9K	Strong	Altered Expression	[18]

References

• [1] Tertiary 'hyperphosphatoninism' accentuates hypophosphatemia and suppresses calcitriol levels in renal transplant recipients. Am J Transplant. 2007 May;7(5):1193-200.
• [2] Calcitriol FDA Label
• [3] 24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study. J Clin Endocrinol Metab. 1996 Jun;81(6):2381-8.
• [4] Osteoglophonic dysplasia: A 'common' mutation in a rare disease.Clin Genet. 2010 Aug;78(2):197-8. doi: 10.1111/j.1399-0004.2010.01382.x. Epub 2010 Mar 5.
• [5] Bone and mineral metabolism at 55 haemodialysis centres in Lima.Nefrologia (Engl Ed). 2018 May-Jun;38(3):279-285. doi: 10.1016/j.nefro.2017.09.011.
• [6] Tumor-induced Osteomalacia due to a Phosphaturic Mesenchymal Tumor in the Cervical Spine: A Case Report and Literature Review.Neurol India. 2019 Sep-Oct;67(5):1334-1340. doi: 10.4103/0028-3886.271274.
• [7] Nuclear xenobiotic receptor PXR-null mouse exhibits hypophosphatemia and represses the Na/Pi-cotransporter SLC34A2.Pharmacogenet Genomics. 2010 Jan;20(1):9-17. doi: 10.1097/FPC.0b013e328333bb28.
• [8] Dose-finding study of modified FLOT (mFLOT) regimen as first-line treatment in Chinese patients with metastatic adenocarcinoma of stomach.Cancer Chemother Pharmacol. 2020 Jan;85(1):113-119. doi: 10.1007/s00280-019-03982-4. Epub 2019 Nov 5.
• [9] Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):967-70. doi: 10.1515/jpem-2014-0531.
• [10] Genetic diseases of renal phosphate handling.Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv45-54. doi: 10.1093/ndt/gfu217.
• [11] Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese.PLoS One. 2015 Sep 30;10(9):e0138152. doi: 10.1371/journal.pone.0138152. eCollection 2015.
• [12] Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney.Clin Exp Nephrol. 2019 Mar;23(3):313-324. doi: 10.1007/s10157-018-1653-4. Epub 2018 Oct 13.
• [13] Phosphaturic action of fibroblast growth factor 23 in Npt2 null mice.Am J Physiol Renal Physiol. 2010 Jun;298(6):F1341-50. doi: 10.1152/ajprenal.00375.2009. Epub 2010 Mar 31.
• [14] Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.J Clin Endocrinol Metab. 2012 Oct;97(10):E1978-86. doi: 10.1210/jc.2012-1279. Epub 2012 Aug 3.
• [15] Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene.Horm Res Paediatr. 2019;91(4):278-284. doi: 10.1159/000492899. Epub 2018 Sep 18.
• [16] Addition of Zoledronate to Chemotherapy in Patients with Osteosarcoma Treated with Limb-Sparing Surgery: A Phase III Clinical Trial.Med Sci Monit. 2019 Feb 23;25:1429-1438. doi: 10.12659/MSM.913236.
• [17] Mineralized tissues in hypophosphatemic rickets.Pediatr Nephrol. 2020 Oct;35(10):1843-1854. doi: 10.1007/s00467-019-04290-y. Epub 2019 Aug 8.
• [18] Phosphatonin washout in Hyp mice proximal tubules: evidence for posttranscriptional regulation.Am J Physiol Renal Physiol. 2005 Feb;288(2):F363-70. doi: 10.1152/ajprenal.00217.2004. Epub 2004 Sep 28.
• [19] De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.
• [20] Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.J Clin Endocrinol Metab. 2011 Jan;96(1):E189-98. doi: 10.1210/jc.2010-1539. Epub 2010 Oct 13.
• [21] Down-regulation of Na+ transporters and AQP2 is responsible for acyclovir-induced polyuria and hypophosphatemia.Kidney Int. 2004 Jan;65(1):175-83. doi: 10.1111/j.1523-1755.2004.00359.x.
• [22] Hypophosphatemia after Hepatectomy or Pancreatectomy: Role of the Nicotinamide Phosphoribosyltransferase.J Am Coll Surg. 2017 Oct;225(4):488-497.e2. doi: 10.1016/j.jamcollsurg.2017.06.012. Epub 2017 Jul 6.
• [23] Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia.Sci Rep. 2017 Jun 15;7(1):3590. doi: 10.1038/s41598-017-03960-x.