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<meta name="keywords" content="C1865974, disease or syndrome, familial primary hypomagnesemia caused by mutation in trpm6, familial primary hypomagnesemia with hypocalcuria, homg, homg1, hsh, hypomagnesemia 1, intestinal, hypomagnesemia caused by selective magnesium malabsorption, hypomagnesemia intestinal type 1, hypomagnesemia with secondary hypocalcemia, hypomagnesemia, intestinal, with secondary hypocalcemia, hypomagnesemic tetany, intestinal hypomagnesemia 1, intestinal hypomagnesemia type 1, intestinal hypomagnesemia with secondary hypocalcemia, phsh, primary hypomagnesemia caused by mutation in trpm6, primary hypomagnesemia with secondary hypocalcemia, trpm6, trpm6 familial primary hypomagnesemia, trpm6 primary hypomagnesemia, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Familial hypomagnesemia with secondary hypocalcemia (HOMG1) is a rare autosomal recessive disorder characterized by very low serum magnesium levels. Hypocalcemia is a secondary consequence of parathyroid 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. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium (review by Knoers, 2009). Genetic Heterogeneity of Hypomagnesemia A form of hypomagnesemia due to kidney defects and high urinary magnesium excretion associated with hypocalciuria (HOMG2; 154020) is caused by mutation in the FXYD2 gene (601814). Renal hypomagnesemia-3 (HOMG3; 248250), associated with hypercalciuria and nephrocalcinosis, is caused by mutation in the CLDN16 gene (603959). Renal hypomagnesemia-4 (HOMG4; 611718), which is normocalciuric, is caused by mutation in the EGF gene (131530). Renal hypomagnesemia-5 with or without ocular involvement (HOMG5; 248190), associated with hypercalciuria and nephrocalcinosis, is caused by mutation in the CLDN19 gene (610036). Renal hypomagnesemia-6 (HOMG6; 613882) is caused by mutation in the CNNM2 gene (607803). Renal hypomagnesemia-7 with or without dilated cardiomyopathy (HOMG7; 620152) is caused by mutation in the RRAGD gene (608268). Patients with Gitelman syndrome (263800) and Bartter syndrome (see 241200) also show hypomagnesemia, and steatorrhea and severe chronic diarrhea states, such as Crohn disease (see 226600) and Whipple disease, that can result in severe hypomagnesemia." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=355596
|
||
ConceptID=C1865974
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intestinal hypomagnesemia 1<span class="h1sub">(HOMG1; HSH)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355596</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1865974</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hypomagnesemia with Secondary Hypocalcemia; HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA; HYPOMAGNESEMIC TETANY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hypomagnesemia with secondary hypocalcemia (711151004); Intestinal hypomagnesemia 1 (711151004); Intestinal hypomagnesemia with secondary hypocalcemia (711151004); Familial primary hypomagnesemia with hypocalcuria (711151004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="TRPM6 - ID: 140803 - NCBI Gene" href="/gene/140803" class="medgenPMinfo">TRPM6</a> (9q21.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011176" target="_blank">MONDO:0011176</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/602014" target="_blank">602014</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=30924">ORPHA30924</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Familial hypomagnesemia with secondary hypocalcemia (HOMG1) is a rare autosomal recessive disorder characterized by very low serum magnesium levels. Hypocalcemia is a secondary consequence of parathyroid 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. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium (review by Knoers, 2009). Genetic Heterogeneity of Hypomagnesemia A form of hypomagnesemia due to kidney defects and high urinary magnesium excretion associated with hypocalciuria (HOMG2; 154020) is caused by mutation in the FXYD2 gene (601814). Renal hypomagnesemia-3 (HOMG3; 248250), associated with hypercalciuria and nephrocalcinosis, is caused by mutation in the CLDN16 gene (603959). Renal hypomagnesemia-4 (HOMG4; 611718), which is normocalciuric, is caused by mutation in the EGF gene (131530). Renal hypomagnesemia-5 with or without ocular involvement (HOMG5; 248190), associated with hypercalciuria and nephrocalcinosis, is caused by mutation in the CLDN19 gene (610036). Renal hypomagnesemia-6 (HOMG6; 613882) is caused by mutation in the CNNM2 gene (607803). Renal hypomagnesemia-7 with or without dilated cardiomyopathy (HOMG7; 620152) is caused by mutation in the RRAGD gene (608268). Patients with Gitelman syndrome (263800) and Bartter syndrome (see 241200) also show hypomagnesemia, and steatorrhea and severe chronic diarrhea states, such as Crohn disease (see 226600) and Whipple disease, that can result in severe hypomagnesemia. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia).<br /><br />Hypomagnesemia impairs the function of the parathyroid glands, which are small hormone-producing glands located in the neck. Normally, the parathyroid glands release a hormone that increases blood calcium levels when they are low. Magnesium is required for the production and release of parathyroid hormone, so when magnesium is too low, insufficient parathyroid hormone is produced and blood calcium levels are also reduced (hypocalcemia). The hypocalcemia is described as "secondary" because it occurs as a consequence of hypomagnesemia.<br /><br />Shortages of magnesium and calcium can cause neurological problems that begin in infancy, including painful muscle spasms (tetany) and seizures. If left untreated, hypomagnesemia with secondary hypocalcemia can lead to developmental delay, intellectual disability, a failure to gain weight and grow at the expected rate (failure to thrive), and heart failure. <a target="_blank" href="https://medlineplus.gov/genetics/condition/hypomagnesemia-with-secondary-hypocalcemia">https://medlineplus.gov/genetics/condition/hypomagnesemia-with-secondary-hypocalcemia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52431"><div><strong>Muscle spasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52431</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0037763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden and involuntary contractions of one or more muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52431">Feature record</a> | <a href="/medgen?term=%22Muscle%20spasm%22%5BClinical%20Features%5D%20OR%2052431%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11748"><div><strong>Tetany</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11748</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0039621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11748">Feature record</a> | <a href="/medgen?term=%22Tetany%22%5BClinical%20Features%5D%20OR%2011748%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5705"><div><strong>Hypocalcemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5705</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020598</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased calcium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5705">Feature record</a> | <a href="/medgen?term=%22Hypocalcemia%22%5BClinical%20Features%5D%20OR%205705%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57481"><div><strong>Hypomagnesemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57481</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased magnesium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57481">Feature record</a> | <a href="/medgen?term=%22Hypomagnesemia%22%5BClinical%20Features%5D%20OR%2057481%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypocalcemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57481" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomagnesemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle spasm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11748" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetany</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865974[DISCUI]&test_type=Clinical" ref="ncbi_uid=355596">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355596" target="_blank" href="/omim/602014">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355596" ref="ncbi_uid=355596">V</a></span></span><span class="TLline">Intestinal hypomagnesemia 1</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842842" ref="tree=MeSH" title="MedGen record for Disorder of magnesium transport">Disorder of magnesium transport</a></span><ul><li><span class="matched_ds">Intestinal hypomagnesemia 1</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/18298894">Arsenic trioxide: safety issues and their management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Au WY,
|
||
Kwong YL</span><br />
|
||
<span class="medgenPMjournal">Acta Pharmacol Sin</span>
|
||
2008 Mar;29(3):296-304.
|
||
doi: 10.1111/j.1745-7254.2008.00771.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18298894" target="_blank">18298894</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6766197">Hypomagnesemia: higher risk using total parenteral nutrition in the treatment of patients with malignancies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frazier TG,
|
||
Mucha ME,
|
||
Rush IH,
|
||
Trull EJ,
|
||
Carlson SA,
|
||
O'Connor JA</span><br />
|
||
<span class="medgenPMjournal">J Surg Oncol</span>
|
||
1980;13(1):35-8.
|
||
doi: 10.1002/jso.2930130106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6766197" target="_blank">6766197</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/837701">Neonatal hypocalcemia mechanism of occurrence and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsang RC,
|
||
Steichen JJ,
|
||
Chan GM</span><br />
|
||
<span class="medgenPMjournal">Crit Care Med</span>
|
||
1977 Jan-Feb;5(1):56-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/837701" target="_blank">837701</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intestinal%20hypomagnesemia%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (7)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34275986">Convulsive Seizure Due to Hypomagnesemia Caused by Short-term Vonoprazan Intake.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aiba M,
|
||
Tsutsumi Y,
|
||
Nagai J,
|
||
Tateno T,
|
||
Ito S</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2022 Jan 15;61(2):237-240.
|
||
Epub 2021 Jul 17
|
||
doi: 10.2169/internalmedicine.7758-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34275986" target="_blank">34275986</a><a href="/pmc/articles/PMC8851186" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27219040">Mechanisms and causes of hypomagnesemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agus ZS</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2016 Jul;25(4):301-7.
|
||
doi: 10.1097/MNH.0000000000000238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27219040" target="_blank">27219040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23482516">Hypomagnesaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Drug Ther Bull</span>
|
||
2013 Mar;51(3):33-6.
|
||
doi: 10.1136/dtb.2013.1.0169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23482516" target="_blank">23482516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10227930">Jejunostomy: techniques, indications, and complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tapia J,
|
||
Murguia R,
|
||
Garcia G,
|
||
de los Monteros PE,
|
||
Oñate E</span><br />
|
||
<span class="medgenPMjournal">World J Surg</span>
|
||
1999 Jun;23(6):596-602.
|
||
doi: 10.1007/pl00012353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10227930" target="_blank">10227930</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2650023">Cisplatin nephrotoxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fillastre JP,
|
||
Raguenez-Viotte G</span><br />
|
||
<span class="medgenPMjournal">Toxicol Lett</span>
|
||
1989 Mar;46(1-3):163-75.
|
||
doi: 10.1016/0378-4274(89)90125-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2650023" target="_blank">2650023</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intestinal%20hypomagnesemia%201%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (30)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35570283">Hypomagnesemia in intestinal lymphangiectasia: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng H,
|
||
Zou L,
|
||
Zhai X,
|
||
Zhang S,
|
||
Li J</span><br />
|
||
<span class="medgenPMjournal">BMC Gastroenterol</span>
|
||
2022 May 15;22(1):246.
|
||
doi: 10.1186/s12876-022-02318-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35570283" target="_blank">35570283</a><a href="/pmc/articles/PMC9107688" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24798177">Severe hypomagnesemia and electrolyte disturbances induced by proton pump inhibitors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turnock M,
|
||
Pagnoux C,
|
||
Shore K</span><br />
|
||
<span class="medgenPMjournal">J Dig Dis</span>
|
||
2014 Aug;15(8):459-62.
|
||
doi: 10.1111/1751-2980.12155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24798177" target="_blank">24798177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24310148">Proton pump inhibitor therapy and potential long-term harm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corleto VD,
|
||
Festa S,
|
||
Di Giulio E,
|
||
Annibale B</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2014 Feb;21(1):3-8.
|
||
doi: 10.1097/MED.0000000000000031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24310148" target="_blank">24310148</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23733901">Stiff, numb hands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaheen K,
|
||
Merugu S</span><br />
|
||
<span class="medgenPMjournal">Cleve Clin J Med</span>
|
||
2013 Jun;80(6):360-2.
|
||
doi: 10.3949/ccjm.80a.11186.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23733901" target="_blank">23733901</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22409531">Drug-induced alterations in Mg2+ homoeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lameris AL,
|
||
Monnens LA,
|
||
Bindels RJ,
|
||
Hoenderop JG</span><br />
|
||
<span class="medgenPMjournal">Clin Sci (Lond)</span>
|
||
2012 Jul;123(1):1-14.
|
||
doi: 10.1042/CS20120045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22409531" target="_blank">22409531</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intestinal%20hypomagnesemia%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (33)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26069375">Proton pump inhibitor-induced hypomagnesemic hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swaminathan K</span><br />
|
||
<span class="medgenPMjournal">Indian J Pharmacol</span>
|
||
2015 May-Jun;47(3):330-1.
|
||
doi: 10.4103/0253-7613.157135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26069375" target="_blank">26069375</a><a href="/pmc/articles/PMC4450563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">Fillastre JP,
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<div class="nl"><a target="_blank" href="/pubmed/38350738">Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Nieto VM,
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Claverie-Martin F,
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<span class="bold">PMID: </span><a href="/pubmed/38350738" target="_blank">38350738</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26160100">HNF1B-associated clinical phenotypes: the kidney and beyond.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bockenhauer D,
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Jaureguiberry G</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/26160100" target="_blank">26160100</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23942199">New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lainez S,
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Schlingmann KP,
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van der Wijst J,
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Dworniczak B,
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van Zeeland F,
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Konrad M,
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2014 Apr;22(4):497-504.
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<div class="nl"><a target="_blank" href="/pubmed/23689795">Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Z,
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Pei Y,
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Huang X,
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Liu Y,
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Yang W,
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Sun J,
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Si N,
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Xing X,
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Li M,
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<span class="bold">PMID: </span><a href="/pubmed/23689795" target="_blank">23689795</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/12763862">Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Meij IC,
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Koenderink JB,
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De Jong JC,
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De Pont JJ,
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Monnens LA,
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Van Den Heuvel LP,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intestinal%20hypomagnesemia%201%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38347260">Refeeding syndrome and psychopharmacological interventions in children and adolescents with Anorexia Nervosa: a focus on olanzapine-related modifications of electrolyte balance.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pruccoli J,
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Barbieri E,
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Visconti C,
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Pranzetti B,
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Pettenuzzo I,
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Moscano F,
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Malaspina E,
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Marino M,
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Valeriani B,
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Parmeggiani A</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/38347260" target="_blank">38347260</a><a href="/pmc/articles/PMC11001716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26160100">HNF1B-associated clinical phenotypes: the kidney and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bockenhauer D,
|
||
Jaureguiberry G</span><br />
|
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<span class="medgenPMjournal">Pediatr Nephrol</span>
|
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2016 May;31(5):707-14.
|
||
Epub 2015 Jul 8
|
||
doi: 10.1007/s00467-015-3142-2.
|
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<span class="bold">PMID: </span><a href="/pubmed/26160100" target="_blank">26160100</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/25475137">Hypocalcemia secondary to hypomagnesemia in a patient with Crohn's disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mukai A,
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Yamamoto S,
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Matsumura K</span><br />
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<span class="medgenPMjournal">Clin J Gastroenterol</span>
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2015 Feb;8(1):22-5.
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Epub 2014 Dec 5
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doi: 10.1007/s12328-014-0544-9.
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<span class="bold">PMID: </span><a href="/pubmed/25475137" target="_blank">25475137</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23942199">New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lainez S,
|
||
Schlingmann KP,
|
||
van der Wijst J,
|
||
Dworniczak B,
|
||
van Zeeland F,
|
||
Konrad M,
|
||
Bindels RJ,
|
||
Hoenderop JG</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Apr;22(4):497-504.
|
||
Epub 2013 Aug 14
|
||
doi: 10.1038/ejhg.2013.178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23942199" target="_blank">23942199</a><a href="/pmc/articles/PMC3953905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2650023">Cisplatin nephrotoxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fillastre JP,
|
||
Raguenez-Viotte G</span><br />
|
||
<span class="medgenPMjournal">Toxicol Lett</span>
|
||
1989 Mar;46(1-3):163-75.
|
||
doi: 10.1016/0378-4274(89)90125-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2650023" target="_blank">2650023</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intestinal%20hypomagnesemia%201%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (24)</a></div></div>
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|
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|
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35570283">Hypomagnesemia in intestinal lymphangiectasia: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng H,
|
||
Zou L,
|
||
Zhai X,
|
||
Zhang S,
|
||
Li J</span><br />
|
||
<span class="medgenPMjournal">BMC Gastroenterol</span>
|
||
2022 May 15;22(1):246.
|
||
doi: 10.1186/s12876-022-02318-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35570283" target="_blank">35570283</a><a href="/pmc/articles/PMC9107688" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intestinal%20hypomagnesemia%201%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1865974%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
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<li><a href="/gtr/tests?term=C1865974%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (21)</a></li>
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<li><a href="/gtr/tests?term=C1865974%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hypomagnesemia+1%2C+intestinal/8613" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hypomagnesemia_1_intestinal" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Intestinal%20hypomagnesemia%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hypomagnesemia-with-secondary-hypocalcemia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/13072/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5528b15b832ebc156ab0">Intestinal hypomagnesemia 1</a>
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