Details of Disease

General Information of Disease (ID: DISKMKFJ)

Disease Name Intestinal hypomagnesemia 1
Synonyms
hypomagnesemia 1, intestinal; Homg; hypomagnesemia with secondary hypocalcemia; hypomagnesemia, intestinal, with secondary hypocalcemia; TRPM6 primary hypomagnesemia; HOMG1; PHSH; TRPM6 familial primary hypomagnesemia; intestinal hypomagnesemia type 1; HSH; intestinal hypomagnesemia with secondary hypocalcemia; hypomagnesemic tetany; primary hypomagnesemia with secondary hypocalcemia; hypomagnesemia caused by selective magnesium malabsorption; hypomagnesemia intestinal type 1; primary hypomagnesemia caused by mutation in TRPM6; familial primary hypomagnesemia caused by mutation in TRPM6
Definition
Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.
Disease Hierarchy
DIS6TTKI: Familial primary hypomagnesemia
DISNS4MA: Familial primary hypomagnesemia with normocalcuria
DISKMKFJ: Intestinal hypomagnesemia 1
Disease Identifiers
MONDO ID
MONDO_0011176
MESH ID
C566593
UMLS CUI
C1865974
OMIM ID
602014
MedGen ID
355596
Orphanet ID
30924
SNOMED CT ID
711151004

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Dihydrotachysterol DMFB97P Approved Small molecular drug [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TRPM6 TTV76RD Limited Biomarker [2]
TRPM6 TTV76RD Strong Autosomal recessive [3]
TRPM7 TTFPVZO Strong Genetic Variation [4]
TRPV6 TTBK14N Strong Autosomal recessive [5]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLDN16 OTTHAIKR moderate Genetic Variation [6]
TRPM6 OTW7SPUV Strong Autosomal recessive [3]
TRPV6 OTZ0LGNO Strong Autosomal recessive [5]
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References

1 Vitamin D resistance in magnesium deficiency. Am J Clin Nutr. 1976 Aug;29(8):854-8.
2 Charting a TRP to Novel Therapeutic Destinations for Kidney Diseases.Trends Pharmacol Sci. 2019 Dec;40(12):911-918. doi: 10.1016/j.tips.2019.10.001. Epub 2019 Nov 5.
3 Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet. 2002 Jun;31(2):171-4. doi: 10.1038/ng901. Epub 2002 May 28.
4 Genetic background of HSH in three Polish families and a patient with an X;9 translocation.Eur J Hum Genet. 2006 Jan;14(1):55-62. doi: 10.1038/sj.ejhg.5201515.
5 TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism. Am J Hum Genet. 2018 Jun 7;102(6):1104-1114. doi: 10.1016/j.ajhg.2018.04.006. Epub 2018 May 31.
6 Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.Nephrol Dial Transplant. 2012 Feb;27(2):667-73. doi: 10.1093/ndt/gfr300. Epub 2011 Jun 9.