Details of Disease

General Information of Disease (ID: DIS6TTKI)

• Disease Name: Familial primary hypomagnesemia
• Synonyms: hypomagnesemia; primary familial hypomagnesemia; familial primary hypomagnesemia; HOMG
• Definition: A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.
• Disease Hierarchy:
  DISZ75RJ: Inherited renal tubular disease
  DISTT17J: Disorder of magnesium transport
  DIS0HB59: Inborn metal metabolism disorder
  DIS6TTKI: Familial primary hypomagnesemia
• Disease Identifiers:
  MONDO ID: MONDO_0018100
  UMLS CUI: C0151723
  MedGen ID: 57481
  HPO ID: HP:0002917
  SNOMED CT ID: 190855004

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Magnesium Sulfate	DMVEK07	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC12A3	TTP362L	Limited	Genetic Variation	[2]
TRPM6	TTV76RD	Limited	Genetic Variation	[3]
KCND3	TTPLQO0	moderate	Genetic Variation	[4]
ATP1A1	TTWK8D0	Strong	Genetic Variation	[5]
ATP4A	TTF1QVM	Strong	Genetic Variation	[6]
CASR	TTBUYHA	Strong	Genetic Variation	[7]
CLCNKB	TTR68GQ	Strong	Genetic Variation	[8]
EGF	TTED8JB	Strong	Biomarker	[9]
KCNA1	TTS3DIK	Strong	Genetic Variation	[10]
KCNJ10	TTG140O	Strong	Biomarker	[2]
PTH	TT6F7GZ	Strong	Biomarker	[11]

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC34A1	DT42EWA	moderate	Genetic Variation	[7]
ATP12A	DT5NLZA	Strong	Genetic Variation	[6]
SLC34A3	DTKS517	Strong	Genetic Variation	[7]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXYD2	DEULQ45	Limited	Genetic Variation	[12]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLCN5	OT9YXZSO	Limited	Genetic Variation	[13]
CLDN19	OTVD6IBL	Limited	Genetic Variation	[14]
CCNL2	OT0NIKYM	moderate	Genetic Variation	[15]
CCNQ	OT183N7L	moderate	Genetic Variation	[15]
CLDN10	OT2CVAKY	moderate	Biomarker	[16]
CNNM4	OTUXJRM1	moderate	Biomarker	[17]
CNNM2	OTZHO8WU	Strong	Genetic Variation	[18]
PCBD1	OTDSRUD5	Strong	Genetic Variation	[19]
HNF1B	OTSYIC3T	Definitive	Genetic Variation	[20]

References

• [1] Magnesium Sulfate FDA Label
• [2] Potassium conservation is impaired in mice with reduced renal expression of Kir4.1.Am J Physiol Renal Physiol. 2018 Nov 1;315(5):F1271-F1282. doi: 10.1152/ajprenal.00022.2018. Epub 2018 Aug 15.
• [3] Common single nucleotide polymorphisms in transient receptor potential melastatin type 6 increase the risk for proton pump inhibitor-induced hypomagnesemia: a case-control study.Pharmacogenet Genomics. 2017 Mar;27(3):83-88. doi: 10.1097/FPC.0000000000000259.
• [4] The voltage-gated K+ channel subunit Kv1.1 links kidney and brain.J Clin Invest. 2009 Apr;119(4):763-6. doi: 10.1172/jci38835.
• [5] Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.Clin Genet. 2020 Mar;97(3):521-526. doi: 10.1111/cge.13668. Epub 2019 Dec 5.
• [6] Magnesium and Drugs.Int J Mol Sci. 2019 Apr 28;20(9):2094. doi: 10.3390/ijms20092094.
• [7] Genetic causes of hypercalciuric nephrolithiasis.Pediatr Nephrol. 2009 Dec;24(12):2321-32. doi: 10.1007/s00467-008-0807-0. Epub 2008 Apr 30.
• [8] The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies.J Clin Endocrinol Metab. 2010 Dec;95(12):E511-8. doi: 10.1210/jc.2010-0392. Epub 2010 Sep 1.
• [9] Magnesium attenuates cisplatin-induced nephrotoxicity by regulating the expression of renal transporters.Eur J Pharmacol. 2017 Sep 15;811:191-198. doi: 10.1016/j.ejphar.2017.05.034. Epub 2017 May 18.
• [10] A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.Nephron. 2018;139(4):359-366. doi: 10.1159/000488954. Epub 2018 May 23.
• [11] Immunosuppressive therapy of autoimmune hypoparathyroidism in a patient with activating autoantibodies against the calcium-sensing receptor.Clin Endocrinol (Oxf). 2019 Jan;90(1):214-221. doi: 10.1111/cen.13886. Epub 2018 Nov 14.
• [12] Hypermagnesuria in Humans Following Acute Intravenous Administration of Digoxin.Nephron. 2018;138(2):113-118. doi: 10.1159/000481468. Epub 2017 Oct 30.
• [13] Genetics of hypercalciuric nephrolithiasis: renal stone disease.Ann N Y Acad Sci. 2007 Nov;1116:461-84. doi: 10.1196/annals.1402.030. Epub 2007 Sep 13.
• [14] Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.Gene. 2019 Mar 20;689:227-234. doi: 10.1016/j.gene.2018.12.024. Epub 2018 Dec 18.
• [15] Molecular function and biological importance of CNNM family Mg2+ transporters.J Biochem. 2019 Mar 1;165(3):219-225. doi: 10.1093/jb/mvy095.
• [16] Deletion of claudin-10 rescues claudin-16-deficient mice from hypomagnesemia and hypercalciuria.Kidney Int. 2018 Mar;93(3):580-588. doi: 10.1016/j.kint.2017.08.029. Epub 2017 Nov 10.
• [17] Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model.PLoS Genet. 2013;9(12):e1003983. doi: 10.1371/journal.pgen.1003983. Epub 2013 Dec 5.
• [18] CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.Eur J Med Genet. 2019 Mar;62(3):198-203. doi: 10.1016/j.ejmg.2018.07.014. Epub 2018 Jul 17.
• [19] Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol. 2014 Mar;25(3):574-86.
• [20] Serum magnesium, hepatocyte nuclear factor 1 genotype and post-transplant diabetes mellitus: a prospective study.Nephrol Dial Transplant. 2020 Jan 1;35(1):176-183. doi: 10.1093/ndt/gfz145.