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<meta name="keywords" content="C0017926, deficiencies, muscle phosphofructokinase, deficiencies, pfkm, deficiency, muscle phosphofructokinase, deficiency, pfkm, disease or syndrome, disease, tarui, disease, tarui's, glycogen storage disease 7, glycogen storage disease caused by mutation in pfkm, glycogen storage disease due to muscle phosphofructokinase deficiency, glycogen storage disease type 7, glycogen storage disease type vii, glycogen storage disease vii, glycogen storage disease, type 7, glycogen storage disease, type vii, glycogenosis 7, glycogenosis due to muscle phosphofructokinase deficiency, glycogenosis type 7, glycogenosis type vii, gsd 7, gsd due to muscle phosphofructokinase deficiency, gsd type 7, gsd type vii, gsd vii, gsd7, gsdvii, muscle phosphofructokinase deficiencies, muscle phosphofructokinase deficiency, pfkm, pfkm deficiencies, pfkm deficiency, pfkm glycogen storage disease, phosphofructokinase deficiencies, muscle, phosphofructokinase deficiency, phosphofructokinase deficiency, muscle, phosphofructokinase myopathy, tarui disease, tarui's disease, taruis disease, 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="Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=5342
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ConceptID=C0017926
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glycogen storage disease, type VII<span class="h1sub">(GSD7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5342</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.">C0017926</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>Glycogen storage disease type 7; GSD VII; GSD7; MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY; PFKM DEFICIENCY; TARUI DISEASE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Glycogen storage disease, type VII (89597008); Muscle phosphofructokinase deficiency (89597008); Tarui's disease (89597008); GSD VII (89597008); Glycogen storage disease, type 7 (89597008)</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>
|
||
<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="PFKM - ID: 5213 - NCBI Gene" href="/gene/5213" class="medgenPMinfo">PFKM</a> (12q13.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009295" target="_blank">MONDO:0009295</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/232800" target="_blank">232800</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=371">ORPHA371</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">Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder. [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">
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||
<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 />Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.<br /><br />There are four types of GSDVII. They are differentiated by their signs and symptoms and the age at which symptoms first appear.<br /><br />The classical form of GSDVII is the most common form. Its features usually appear in childhood. This form is characterized by muscle pain and cramps, often following moderate exercise; strenuous exercise can lead to nausea and vomiting. During exercise, muscle tissue can be abnormally broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can damage the kidneys and lead to kidney failure. Some people with the classical form of GSDVII develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. Affected individuals may also have elevated levels of a molecule called bilirubin in the blood that can cause yellowing of the skin and whites of the eyes (jaundice). Individuals with classical GSDVII often have elevated levels of an enzyme called creatine kinase in their blood. This finding is a common indicator of muscle disease.<br /><br />Infants with the severe infantile form of GSDVII have low muscle tone (hypotonia) at birth, which leads to muscle weakness (myopathy) that worsens over time. Affected infants have a weakened and enlarged heart (cardiomyopathy) and difficulty breathing normally. Individuals with this form of GSDVII usually do not survive past their first year of life.<br /><br />In the late-onset form of GSDVII, myopathy is typically the only feature. The muscle weakness appears in adulthood, although some individuals have difficulty with sustained exercise starting in childhood. The weakness generally affects the muscles closest to the center of the body (proximal muscles).<br /><br />The hemolytic form of GSDVII is characterized by hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, causing a shortage of red blood cells (anemia). People with the hemolytic form of GSDVII do not experience any signs or symptoms of muscle pain or weakness related to the disorder. <a target="_blank" href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii">https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii</a></div></div>
|
||
</div>
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||
|
||
<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_68541"><div><strong>Myalgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68541</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.">C0231528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pain in muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68541">Feature record</a> | <a href="/medgen?term=%22Myalgia%22%5BClinical%20Features%5D%20OR%2068541%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_603270"><div><strong>Exercise intolerance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>603270</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.">C0424551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/603270">Feature record</a> | <a href="/medgen?term=%22Exercise%20intolerance%22%5BClinical%20Features%5D%20OR%20603270%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340638"><div><strong>Exercise-induced myalgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340638</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.">C1850830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The occurrence of an unusually high amount of muscle pain following exercise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340638">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20myalgia%22%5BClinical%20Features%5D%20OR%20340638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5488"><div><strong>Hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5488</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.">C0018965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5488">Feature record</a> | <a href="/medgen?term=%22Hematuria%22%5BClinical%20Features%5D%20OR%205488%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337172"><div><strong>Exercise-induced myoglobinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337172</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.">C1845155</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of myoglobin in the urine following exercise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337172">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20myoglobinuria%22%5BClinical%20Features%5D%20OR%20337172%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3039"><div><strong>Cholelithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3039</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.">C0008350</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hard, pebble-like deposits that form within the gallbladder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3039">Feature record</a> | <a href="/medgen?term=%22Cholelithiasis%22%5BClinical%20Features%5D%20OR%203039%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</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.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373253"><div><strong>Easy fatigability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373253</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.">C1837098</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to fatigue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373253">Feature record</a> | <a href="/medgen?term=%22Easy%20fatigability%22%5BClinical%20Features%5D%20OR%20373253%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1916"><div><strong>Hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1916</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.">C0002878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of anemia caused by premature destruction of red blood cells (hemolysis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1916">Feature record</a> | <a href="/medgen?term=%22Hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%201916%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_60089"><div><strong>Reticulocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>60089</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.">C0206160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/60089">Feature record</a> | <a href="/medgen?term=%22Reticulocytosis%22%5BClinical%20Features%5D%20OR%2060089%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868155"><div><strong>Reduced erythrocyte 2,3-diphosphoglycerate concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868155</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.">C4022546</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868155">Feature record</a> | <a href="/medgen?term=%22Reduced%20erythrocyte%202%2C3-diphosphoglycerate%20concentration%22%5BClinical%20Features%5D%20OR%20868155%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42280"><div><strong>Gout</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42280</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.">C0018099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42280">Feature record</a> | <a href="/medgen?term=%22Gout%22%5BClinical%20Features%5D%20OR%2042280%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336019"><div><strong>Increased variability in muscle fiber diameter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336019</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.">C1843700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336019">Feature record</a> | <a href="/medgen?term=%22Increased%20variability%20in%20muscle%20fiber%20diameter%22%5BClinical%20Features%5D%20OR%20336019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383715"><div><strong>Exercise-induced muscle cramps</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383715</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.">C1855578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden and involuntary contractions of one or more muscles brought on by physical exertion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383715">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20muscle%20cramps%22%5BClinical%20Features%5D%20OR%20383715%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343388"><div><strong>Exercise-induced muscle stiffness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343388</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.">C1855579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of muscle stiffness that occurs following physical exertion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343388">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20muscle%20stiffness%22%5BClinical%20Features%5D%20OR%20343388%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340906"><div><strong>Exercise-induced muscle fatigue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340906</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.">C1855580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased tendency towards muscle fatigue induced by physical exercise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340906">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20muscle%20fatigue%22%5BClinical%20Features%5D%20OR%20340906%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</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.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%2069128%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_149260"><div><strong>Hyperuricemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>149260</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.">C0740394</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high level of uric acid in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/149260">Feature record</a> | <a href="/medgen?term=%22Hyperuricemia%22%5BClinical%20Features%5D%20OR%20149260%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_152856"><div><strong>Increased total bilirubin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152856</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.">C0741494</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152856">Feature record</a> | <a href="/medgen?term=%22Increased%20total%20bilirubin%22%5BClinical%20Features%5D%20OR%20152856%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_409660"><div><strong>Increased muscle glycogen content</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409660</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.">C1968729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of glycogen in muscle tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409660">Feature record</a> | <a href="/medgen?term=%22Increased%20muscle%20glycogen%20content%22%5BClinical%20Features%5D%20OR%20409660%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868464"><div><strong>Elevated circulating aldolase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868464</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.">C4022858</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868464">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20aldolase%20concentration%22%5BClinical%20Features%5D%20OR%20868464%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1377250"><div><strong>Increased circulating lactate dehydrogenase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1377250</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.">C4477095</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevated level of the enzyme lactate dehydrogenase in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1377250">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20lactate%20dehydrogenase%20concentration%22%5BClinical%20Features%5D%20OR%201377250%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1864318"><div><strong>Reduced muscle 6-phosphofructokinase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864318</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.">C5937153</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Activity of the enzyme 6-phosphofructokinase in muscle tissue is below the lower limit of normal. 6-phosphofructokinase (EC 2.7.1.11) is also known as phosphofructokinase I and phosphohexokinase. The PFKM gene encodes the muscle isoform of phosphofructokinase. PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1864318">Feature record</a> | <a href="/medgen?term=%22Reduced%20muscle%206-phosphofructokinase%20activity%22%5BClinical%20Features%5D%20OR%201864318%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 blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868155" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced erythrocyte 2,3-diphosphoglycerate concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_60089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reticulocytosis</a></span></li></ul></li><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_868464" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating aldolase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_149260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperuricemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1377250" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating lactate dehydrogenase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_409660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased muscle glycogen content</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_152856" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased total bilirubin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1864318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced muscle 6-phosphofructokinase activity</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholelithiasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced myoglobinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematuria</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_383715" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced muscle cramps</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced muscle fatigue</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced muscle stiffness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gout</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased variability in muscle fiber diameter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</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_373253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Easy fatigability</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_603270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise intolerance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced myalgia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myalgia</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><li><a href="#tabORDO">Orphanet</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017919[DISCUI]&test_type=Clinical" ref="ncbi_uid=6639">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=6639" ref="ncbi_uid=6639">V</a></span></span><span class="TLline"><a href="/medgen/6639" ref="tree=GTR&ncbi_uid=6639&link_uid=6639" title="View MedGen record for 'Glycogen storage disease'">Glycogen storage disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268147[DISCUI]&test_type=Clinical" ref="ncbi_uid=468559">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK55061/" ref="ncbi_uid=468559">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468559" ref="ncbi_uid=468559">V</a></span></span><span class="TLline"><a href="/medgen/468559" ref="tree=GTR&ncbi_uid=468559&link_uid=468559" title="View MedGen record for 'Glycogen phosphorylase kinase deficiency'">Glycogen phosphorylase kinase deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3694531[DISCUI]&test_type=Clinical" ref="ncbi_uid=854172">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854172" target="_blank" href="/omim/300798">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK55061/" ref="ncbi_uid=854172">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854172" ref="ncbi_uid=854172">V</a></span></span><span class="TLline"><a href="/medgen/854172" ref="tree=GTR&ncbi_uid=854172&link_uid=854172" title="View MedGen record for 'Glycogen storage disease IXa1'">Glycogen storage disease IXa1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0543514[DISCUI]&test_type=Clinical" ref="ncbi_uid=107772">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=107772" target="_blank" href="/omim/172490">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK55061/" ref="ncbi_uid=107772">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=107772" ref="ncbi_uid=107772">V</a></span></span><span class="TLline"><a href="/medgen/107772" ref="tree=GTR&ncbi_uid=107772&link_uid=107772" title="View MedGen record for 'Glycogen storage disease IXb'">Glycogen storage disease IXb</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751643[DISCUI]&test_type=Clinical" ref="ncbi_uid=442778">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442778" target="_blank" href="/omim/172471">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK55061/" ref="ncbi_uid=442778">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442778" ref="ncbi_uid=442778">V</a></span></span><span class="TLline"><a href="/medgen/442778" ref="tree=GTR&ncbi_uid=442778&link_uid=442778" title="View MedGen record for 'Glycogen storage disease IXc'">Glycogen storage disease IXc</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1845151[DISCUI]&test_type=Clinical" ref="ncbi_uid=335112">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335112" target="_blank" href="/omim/300559">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK55061/" ref="ncbi_uid=335112">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335112" ref="ncbi_uid=335112">V</a></span></span><span class="TLline"><a href="/medgen/335112" ref="tree=GTR&ncbi_uid=335112&link_uid=335112" title="View MedGen record for 'Glycogen storage disease IXd'">Glycogen storage disease IXd</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931743[DISCUI]&test_type=Clinical" ref="ncbi_uid=419152">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419152" target="_blank" href="/omim/150000">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=419152" ref="ncbi_uid=419152">V</a></span></span><span class="TLline"><a href="/medgen/419152" ref="tree=GTR&ncbi_uid=419152&link_uid=419152" title="View MedGen record for 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency'">Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752027[DISCUI]&test_type=Clinical" ref="ncbi_uid=442873">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442873" target="_blank" href="/omim/131370">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=442873" ref="ncbi_uid=442873">V</a></span></span><span class="TLline"><a href="/medgen/442873" ref="tree=GTR&ncbi_uid=442873&link_uid=442873" title="View MedGen record for 'Glycogen storage disease due to muscle beta-enolase deficiency'">Glycogen storage disease due to muscle beta-enolase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017922[DISCUI]&test_type=Clinical" ref="ncbi_uid=6641">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0017922[DISCUI]&test_type=Research" ref="ncbi_uid=6641">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=6641" target="_blank" href="/omim/232400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK26372/" ref="ncbi_uid=6641">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6641" ref="ncbi_uid=6641">V</a></span></span><span class="TLline"><a href="/medgen/6641" ref="tree=GTR&ncbi_uid=6641&link_uid=6641" title="View MedGen record for 'Glycogen storage disease type III'">Glycogen storage disease type III</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1968739[DISCUI]&test_type=Clinical" ref="ncbi_uid=369842">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369842" target="_blank" href="/omim/232400">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=369842" ref="ncbi_uid=369842">V</a></span></span><span class="TLline"><a href="/medgen/369842" ref="tree=GTR&ncbi_uid=369842&link_uid=369842" title="View MedGen record for 'Glycogen storage disease IIIa'">Glycogen storage disease IIIa</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1968740[DISCUI]&test_type=Clinical" ref="ncbi_uid=369843">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369843" target="_blank" href="/omim/232400">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=369843" ref="ncbi_uid=369843">V</a></span></span><span class="TLline"><a href="/medgen/369843" ref="tree=GTR&ncbi_uid=369843&link_uid=369843" title="View MedGen record for 'Glycogen storage disease IIIb'">Glycogen storage disease IIIb</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369844" target="_blank" href="/omim/232400">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=369844" ref="ncbi_uid=369844">V</a></span></span><span class="TLline"><a href="/medgen/369844" ref="tree=GTR&ncbi_uid=369844&link_uid=369844" title="View MedGen record for 'Glycogen storage disease IIIc'">Glycogen storage disease IIIc</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369845" target="_blank" href="/omim/232400">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/369845" ref="tree=GTR&ncbi_uid=369845&link_uid=369845" title="View MedGen record for 'Glycogen storage disease IIId'">Glycogen storage disease IIId</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268149[DISCUI]&test_type=Clinical" ref="ncbi_uid=120613">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=120613" target="_blank" href="/omim/261670">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=120613" ref="ncbi_uid=120613">V</a></span></span><span class="TLline"><a href="/medgen/120613" ref="tree=GTR&ncbi_uid=120613&link_uid=120613" title="View MedGen record for 'Glycogen storage disease type X'">Glycogen storage disease type X</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150754[DISCUI]&test_type=Clinical" ref="ncbi_uid=462104">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462104" target="_blank" href="/omim/603942">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=462104" ref="ncbi_uid=462104">V</a></span></span><span class="TLline"><a href="/medgen/462104" ref="tree=GTR&ncbi_uid=462104&link_uid=462104" title="View MedGen record for 'Glycogen storage disease XV'">Glycogen storage disease XV</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017920[DISCUI]&test_type=Clinical" ref="ncbi_uid=6640">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1312/" ref="ncbi_uid=6640">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6640" ref="ncbi_uid=6640">V</a></span></span><span class="TLline"><a href="/medgen/6640" ref="tree=GTR&ncbi_uid=6640&link_uid=6640" title="View MedGen record for 'Glycogen storage disease, type I'">Glycogen storage disease, type I</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268146[DISCUI]&test_type=Clinical" ref="ncbi_uid=78644">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78644" target="_blank" href="/omim/232220">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1312/" ref="ncbi_uid=78644">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78644" ref="ncbi_uid=78644">V</a></span></span><span class="TLline"><a href="/medgen/78644" ref="tree=GTR&ncbi_uid=78644&link_uid=78644" title="View MedGen record for 'Glucose-6-phosphate transport defect'">Glucose-6-phosphate transport defect</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2919796[DISCUI]&test_type=Clinical" ref="ncbi_uid=415885">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2919796[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=415885">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=415885" target="_blank" href="/omim/232200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1312/" ref="ncbi_uid=415885">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=415885" ref="ncbi_uid=415885">V</a></span></span><span class="TLline"><a href="/medgen/415885" ref="tree=GTR&ncbi_uid=415885&link_uid=415885" title="View MedGen record for 'Glycogen storage disease due to glucose-6-phosphatase deficiency type IA'">Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017921[DISCUI]&test_type=Clinical" ref="ncbi_uid=5340">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=5340" target="_blank" href="/omim/232300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1261/" ref="ncbi_uid=5340">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5340" ref="ncbi_uid=5340">V</a></span></span><span class="TLline"><a href="/medgen/5340" ref="tree=GTR&ncbi_uid=5340&link_uid=5340" title="View MedGen record for 'Glycogen storage disease, type II'">Glycogen storage disease, type II</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/148252" ref="tree=GTR&ncbi_uid=148252&link_uid=148252" title="View MedGen record for 'Glycogen storage disease type II, infantile'">Glycogen storage disease type II, infantile</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017923[DISCUI]&test_type=Clinical" ref="ncbi_uid=6642">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=6642" target="_blank" href="/omim/232500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK115333/" ref="ncbi_uid=6642">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6642" ref="ncbi_uid=6642">V</a></span></span><span class="TLline"><a href="/medgen/6642" ref="tree=GTR&ncbi_uid=6642&link_uid=6642" title="View MedGen record for 'Glycogen storage disease, type IV'">Glycogen storage disease, type IV</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017924[DISCUI]&test_type=Clinical" ref="ncbi_uid=5341">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=5341" target="_blank" href="/omim/232600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1344/" ref="ncbi_uid=5341">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5341" ref="ncbi_uid=5341">V</a></span></span><span class="TLline"><a href="/medgen/5341" ref="tree=GTR&ncbi_uid=5341&link_uid=5341" title="View MedGen record for 'Glycogen storage disease, type V'">Glycogen storage disease, type V</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017926[DISCUI]&test_type=Clinical" ref="ncbi_uid=5342">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=5342" target="_blank" href="/omim/232800">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=5342" ref="ncbi_uid=5342">V</a></span></span><span class="TLline">Glycogen storage disease, type VII</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0272066[DISCUI]&test_type=Clinical" ref="ncbi_uid=82895">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0272066[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=82895">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82895" target="_blank" href="/omim/103850">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=82895" ref="ncbi_uid=82895">V</a></span></span><span class="TLline"><a href="/medgen/82895" ref="tree=GTR&ncbi_uid=82895&link_uid=82895" title="View MedGen record for 'HNSHA due to aldolase A deficiency'">HNSHA due to aldolase A deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752015[DISCUI]&test_type=Clinical" ref="ncbi_uid=414536">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414536" target="_blank" href="/omim/171900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=414536">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414536" ref="ncbi_uid=414536">V</a></span></span><span class="TLline"><a href="/medgen/414536" ref="tree=GTR&ncbi_uid=414536&link_uid=414536" title="View MedGen record for 'PGM1-congenital disorder of glycosylation'">PGM1-congenital disorder of glycosylation</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/44376" ref="tree=MeSH" title="MedGen record for Metabolic disease">Metabolic disease</a></span><ul><li><span class="TLline"><a href="/medgen/472889" ref="tree=MeSH" title="MedGen record for Carbohydrate metabolism disease">Carbohydrate metabolism disease</a></span><ul><li><span class="TLline"><a href="/medgen/2825" ref="tree=MeSH" title="MedGen record for Inborn carbohydrate metabolic disorder">Inborn carbohydrate metabolic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/6639" ref="tree=MeSH" title="MedGen record for Glycogen storage disease">Glycogen storage disease</a></span><ul><li><span class="matched_ds">Glycogen storage disease, type VII</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=19&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Glycogen storage disease, type VII</span> in Orphanet.</div></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/32773572">The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reason SL,
|
||
Godfrey RJ</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2020 Oct;27(5):283-290.
|
||
doi: 10.1097/MED.0000000000000567.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32773572" target="_blank">32773572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32472082">Exercise efficiency impairment in metabolic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noury JB,
|
||
Zagnoli F,
|
||
Petit F,
|
||
Marcorelles P,
|
||
Rannou F</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2020 May 29;10(1):8765.
|
||
doi: 10.1038/s41598-020-65770-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32472082" target="_blank">32472082</a><a href="/pmc/articles/PMC7260200" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31363843">Update on polyglucosan storage diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cenacchi G,
|
||
Papa V,
|
||
Costa R,
|
||
Pegoraro V,
|
||
Marozzo R,
|
||
Fanin M,
|
||
Angelini C</span><br />
|
||
<span class="medgenPMjournal">Virchows Arch</span>
|
||
2019 Dec;475(6):671-686.
|
||
Epub 2019 Jul 30
|
||
doi: 10.1007/s00428-019-02633-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31363843" target="_blank">31363843</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15070817">Gas exchange responses to constant work-rate exercise in patients with glycogenosis type V and VII.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ong HY,
|
||
O'Dochartaigh CS,
|
||
Lovell S,
|
||
Patterson VH,
|
||
Wasserman K,
|
||
Nicholls DP,
|
||
Riley MS</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2004 Jun 1;169(11):1238-44.
|
||
Epub 2004 Apr 7
|
||
doi: 10.1164/rccm.200307-974OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15070817" target="_blank">15070817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3861621">Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mineo I,
|
||
Kono N,
|
||
Shimizu T,
|
||
Hara N,
|
||
Yamada Y,
|
||
Sumi S,
|
||
Nonaka K,
|
||
Tarui S</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
1985 Aug;76(2):556-60.
|
||
doi: 10.1172/JCI112006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3861621" target="_blank">3861621</a><a href="/pmc/articles/PMC423860" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20VII%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31363843">Update on polyglucosan storage diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cenacchi G,
|
||
Papa V,
|
||
Costa R,
|
||
Pegoraro V,
|
||
Marozzo R,
|
||
Fanin M,
|
||
Angelini C</span><br />
|
||
<span class="medgenPMjournal">Virchows Arch</span>
|
||
2019 Dec;475(6):671-686.
|
||
Epub 2019 Jul 30
|
||
doi: 10.1007/s00428-019-02633-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31363843" target="_blank">31363843</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30133734">My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michelson J</span><br />
|
||
<span class="medgenPMjournal">Hastings Cent Rep</span>
|
||
2018 Jul;48 Suppl 2:S32-S34.
|
||
doi: 10.1002/hast.882.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30133734" target="_blank">30133734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27922496">Metabolic Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tarnopolsky MA</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1829-1851.
|
||
doi: 10.1212/CON.0000000000000403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27922496" target="_blank">27922496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26108272">Infantile form of muscle phosphofructokinase deficiency in a premature neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu PL,
|
||
Yang YN,
|
||
Tey SL,
|
||
Yang CH,
|
||
Yang SN,
|
||
Lin CS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2015 Aug;57(4):746-9.
|
||
Epub 2015 Jun 25
|
||
doi: 10.1111/ped.12616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26108272" target="_blank">26108272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/153468">Type VII glycogenosis (muscle and erythrocyte phosphofructokinase deficiency).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tarui S,
|
||
Kono N,
|
||
Kuwajima M,
|
||
Ikura Y</span><br />
|
||
<span class="medgenPMjournal">Monogr Hum Genet</span>
|
||
1978;9:42-7.
|
||
doi: 10.1159/000401609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/153468" target="_blank">153468</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20VII%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 (27)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/14718702">No spontaneous second wind in muscle phosphofructokinase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haller RG,
|
||
Vissing J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2004 Jan 13;62(1):82-6.
|
||
doi: 10.1212/wnl.62.1.82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14718702" target="_blank">14718702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7824108">Glucose infusion paradoxically accelerates degradation of adenine nucleotide in working muscle of patients with glycogen storage disease type VII.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ono A,
|
||
Kuwajima M,
|
||
Kono N,
|
||
Mineo I,
|
||
Nakagawa C,
|
||
Tarui S,
|
||
Matsuzawa Y</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1995 Jan;45(1):161-4.
|
||
doi: 10.1212/wnl.45.1.161.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7824108" target="_blank">7824108</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6227585">Isozymes of human phosphofructokinase: biochemical and genetic aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vora S</span><br />
|
||
<span class="medgenPMjournal">Isozymes Curr Top Biol Med Res</span>
|
||
1983;11:3-23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6227585" target="_blank">6227585</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20VII%22%20AND%20Therapy%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32472082">Exercise efficiency impairment in metabolic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noury JB,
|
||
Zagnoli F,
|
||
Petit F,
|
||
Marcorelles P,
|
||
Rannou F</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2020 May 29;10(1):8765.
|
||
doi: 10.1038/s41598-020-65770-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32472082" target="_blank">32472082</a><a href="/pmc/articles/PMC7260200" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26108272">Infantile form of muscle phosphofructokinase deficiency in a premature neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu PL,
|
||
Yang YN,
|
||
Tey SL,
|
||
Yang CH,
|
||
Yang SN,
|
||
Lin CS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2015 Aug;57(4):746-9.
|
||
Epub 2015 Jun 25
|
||
doi: 10.1111/ped.12616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26108272" target="_blank">26108272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10924019">Congenital and metabolic myopathies of childhood or adult onset.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miró O,
|
||
Laguno M,
|
||
Masanés F,
|
||
Perea M,
|
||
Urbano-Márquez A,
|
||
Grau JM</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2000 Jun;29(6):335-47.
|
||
doi: 10.1053/sarh.2000.5753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10924019" target="_blank">10924019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8659544">Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nichols RC,
|
||
Rudolphi O,
|
||
Ek B,
|
||
Exelbert R,
|
||
Plotz PH,
|
||
Raben N</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1996 Jul;59(1):59-65.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8659544" target="_blank">8659544</a><a href="/pmc/articles/PMC1915105" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2624217">Myogenic hyperuricemia: a comparative study between type V and type VII glycogenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hara N,
|
||
Mineo I,
|
||
Kono N,
|
||
Kiyokawa H,
|
||
Kawachi M,
|
||
Yamada Y,
|
||
Nakajima H,
|
||
Shimizu T,
|
||
Kuwajima M,
|
||
Wang YL</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
1989;253A:381-6.
|
||
doi: 10.1007/978-1-4684-5673-8_62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2624217" target="_blank">2624217</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20VII%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32472082">Exercise efficiency impairment in metabolic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noury JB,
|
||
Zagnoli F,
|
||
Petit F,
|
||
Marcorelles P,
|
||
Rannou F</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2020 May 29;10(1):8765.
|
||
doi: 10.1038/s41598-020-65770-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32472082" target="_blank">32472082</a><a href="/pmc/articles/PMC7260200" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22364848">Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malfatti E,
|
||
Birouk N,
|
||
Romero NB,
|
||
Piraud M,
|
||
Petit FM,
|
||
Hogrel JY,
|
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Laforêt P</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2012 May 15;316(1-2):173-7.
|
||
Epub 2012 Feb 23
|
||
doi: 10.1016/j.jns.2012.01.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22364848" target="_blank">22364848</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10924019">Congenital and metabolic myopathies of childhood or adult onset.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miró O,
|
||
Laguno M,
|
||
Masanés F,
|
||
Perea M,
|
||
Urbano-Márquez A,
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Grau JM</span><br />
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<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2000 Jun;29(6):335-47.
|
||
doi: 10.1053/sarh.2000.5753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10924019" target="_blank">10924019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8659544">Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nichols RC,
|
||
Rudolphi O,
|
||
Ek B,
|
||
Exelbert R,
|
||
Plotz PH,
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||
Raben N</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1996 Jul;59(1):59-65.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8659544" target="_blank">8659544</a><a href="/pmc/articles/PMC1915105" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6939256">Glycogen storage disease in skeletal muscle. Morphological, ultrastructural and biochemical aspects in 10 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cabello A,
|
||
Benlloch T,
|
||
Franch O,
|
||
Feliú JF,
|
||
Ricoy JR</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol Suppl</span>
|
||
1981;7:297-300.
|
||
doi: 10.1007/978-3-642-81553-9_85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6939256" target="_blank">6939256</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20VII%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 (7)</a></div></div>
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|
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<li><a href="/gtr/tests?term=C0017926%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (39)</a></li>
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|
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|
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<li><a href="/gtr/tests?term=C0017926%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (9)</a></li>
|
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<li><a href="/gtr/tests?term=C0017926%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (65)</a></li>
|
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<li><a href="/gtr/tests?term=C0017926%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (19)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0017926%5bDISCUI%5d" target="_blank">See all (77)</a></total></li>
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