Intestinal Hypomagnesemia 1

A rare autosomal recessive disorder characterized by very low serum magnesium levels. Hypocalcemia is a secondary consequence of PARATHYROID GLANDS failure and PARATHYROID HORMONE resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or TETANY. Untreated, the disease may be fatal or lead to severe neurologic damage. Mutations in the TRPM6 gene have been identified. OMIM: 602014

Also Known As:

Networked: 24 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Gitelman Syndrome
2.	Hypercalciuria
3.	Inborn Genetic Diseases (Disease, Hereditary)
4.	Seizures (Absence Seizure)
5.	Nephrocalcinosis

Experts

1.	Hoenderop, Joost G J: 4 articles (01/2011 - 01/2004)
2.	Gudermann, Thomas: 3 articles (01/2014 - 04/2004)
3.	Bindels, René J M: 3 articles (01/2011 - 08/2007)
4.	Konrad, Martin: 3 articles (08/2007 - 01/2003)
5.	Chubanov, Vladimir: 2 articles (01/2014 - 08/2007)
6.	Woudenberg-Vrenken, Titia E: 2 articles (01/2011 - 08/2009)
7.	Schlingmann, Karl P: 2 articles (08/2007 - 04/2004)
8.	Bos, Caro: 1 article (05/2022)
9.	Carotti, Valentina: 1 article (05/2022)
10.	Claverie-Martin, Felix: 1 article (05/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Intestinal Hypomagnesemia 1:

1.	MagnesiumIBA 01/01/2022 - "Primary hypomagnesemia with secondary hypocalcemia (HSH) is caused by loss-of-function mutations in the TRPM6 gene encoding the epithelial magnesium channel. " 01/01/2021 - "Familial hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disease caused by a mutation in the transient receptor potential melastatin 6 (TRPM6) gene and is characterized by selective magnesium malabsorption. " 01/01/2011 - "Hypomagnesemia with secondary hypocalcemia is due to disturbed renal and intestinal magnesium (Mg(2+)) (re)absorption. " 12/01/2008 - "The active transcellular transport of magnesium in the DCT was similarly enhanced by the realization that defects in transient receptor potential melastatin 6 (TRPM6) cause hypomagnesemia with secondary hypocalcemia. " 06/01/2002 - "Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion."
2.	Ion Channels (Ion Channel)IBA 11/01/2010 - "Ion channel dysfunction can cause endocrine disorders or endocrine-related manifestations, such as pseudohypoaldosteronism type 1, Liddle syndrome, Bartter syndrome, persistent hyperinsulinemic hypoglycemia of infancy, neonatal diabetes mellitus, cystic fibrosis, Dent's disease, hypomagnesemia with secondary hypocalcemia, nephrogenic diabetes insipidus and, the most recently genetically identified channelopathy, thyrotoxic hypokalemic periodic paralysis. " 08/01/2007 - "Patients with Hypomagnesemia with Secondary Hypocalcemia (HSH), a primary defect in intestinal magnesium absorption, were found to carry mutations in TRPM6, a member of the melastatin-related subfamily of transient receptor potential (TRP) ion channels. " 04/01/2004 - "In this review, we focus on TRPM6, an ion channel of the "transient receptor potential (TRP) gene family, which, when mutated, causes a combined defect of intestinal magnesium absorption and renal magnesium conservation as observed in primary hypomagnesemia with secondary hypocalcemia."
3.	TRPC6 Cation ChannelIBA 12/01/2019 - "Human genetics point to three additional TRP channels as plausible therapeutic targets: TRPC6 in FSGS, PKD2 in polycystic kidney disease, and TRPM6 in familial hypomagnesemia with secondary hypocalcemia (HSH). " 08/01/2009 - "TRPC6 dysfunction has been associated with the onset of focal segmental glomerosclerosis; TRPP2 dysfunction is linked to autosomal-dominant polycystic kidney disease, TRPM6 mutations underlie hypomagnesemia with secondary hypocalcemia, and TRPV1 dysfunction is implicated in renal hypertension. " 08/01/2007 - "TRPC6, TRPM6, and TRPP2 have been implicated in hereditary focal segmental glomerulosclerosis (FSGS), hypomagnesemia with secondary hypocalcemia (HSH), and polycystic kidney disease (PKD), respectively. "
4.	N-Methylaspartate (NMDA)IBA 01/01/2014 - "These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). "
5.	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/01/2014 - "These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). "
6.	SaltsIBA 01/01/2003 - "Besides isolated renal forms of hereditary hypomagnesemia, the following disorders will also be presented: familial hypomagnesemia with hypercalciuria and nephrocalcinosis, hypomagnesemia with secondary hypocalcemia, Ca2+/Mg2+-sensing receptor-associated disorders, and disorders associated with renal salt-wasting and hypokalemic metabolic alkalosis, comprising the Gitelman syndrome and the Bartter-like syndromes."
7.	Proteins (Proteins, Gene)FDA Link 10/01/2000 - "The described disorders include (1) hypomagnesemia with secondary hypocalcemia, an earlyonset, autosomal-recessive disease segregating with chromosome 9q12-22.2; (2) autosomal-dominant hypomagnesemia caused by isolated renal magnesium wasting, mapped to chromosome 11q23; (3) hypomagnesemia with hypercalciuria and nephrocalcinosis, a recessive condition caused by a mutation of the claudin 16 gene (3q27) coding for a tight junctional protein that regulates paracellular Mg(2+) transport in the loop of Henle; (4) autosomal-dominant hypoparathyroidism, a variably hypomagnesemic disorder caused by inactivating mutations of the extracellular Ca(2+)/Mg(2+)-sensing receptor, CASR: gene, at 3q13.3-21 (a significant association between common polymorphisms of the CASR: and extracellular Mg(2+) concentration has been demonstrated in a healthy adult population); and (5) Gitelman syndrome, a recessive form of hypomagnesemia caused by mutations in the distal tubular NaCl cotransporter gene, SLC12A3, at 16q13. "
8.	Phosphotransferases (Kinase)IBA 01/01/2014 - "Loss-of-function mutations in the human TRPM6 gene give rise to hypomagnesemia with secondary hypocalcemia (HSH), suggesting that the TRPM6 channel kinase plays a central role in systemic Mg(2+) homeostasis. "
9.	Parathyroid Hormone (Parathormone)IBA 07/01/1972 - "Primary hypomagnesemia with secondary hypocalcemia, diarrhea and insensitivity to parathyroid hormone."
10.	ElectrolytesIBA 06/01/2002 - "Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. "