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<meta name="keywords" content="1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency, C0017923, amylopectinoses, amylopectinosis, andersen disease, andersen disease (gsd iv), andersen's disease, andersens disease, brancher deficiencies, brancher deficiency, brancher deficiency glycogen storage disease, brancher deficiency glycogenosis, branching enzyme deficiency, branching-transferase deficiency glycogenosis, cirrhosis, familial, with deposition of abnormal glycogen, deficiencies, brancher, deficiencies, gbe1, deficiency of 1,4-alpha-glucan branching enzyme, deficiency of amylo-(1,4,6)-transglycosylase, deficiency of branching enzyme, deficiency, brancher, deficiency, gbe1, disease or syndrome, disease, andersen, disease, andersen's, gbe1, gbe1 deficiencies, gbe1 deficiency, gbe1 glycogen storage disease, glycogen branching enzyme deficiency, glycogen storage disease 4, glycogen storage disease caused by mutation in gbe1, glycogen storage disease due to glycogen branching enzyme deficiency, glycogen storage disease iv, glycogen storage disease type 4, glycogen storage disease type iv, glycogen storage disease, type 4, glycogen storage disease, type iv, glycogenoses, type iv, glycogenosis 4, glycogenosis 4s, glycogenosis due to glycogen branching enzyme deficiency, glycogenosis iv, glycogenosis ivs, glycogenosis type 4, glycogenosis type iv, glycogenosis, type 4, glycogenosis, type iv, gsd 4, gsd due to glycogen branching enzyme deficiency, gsd iv, gsd iv, classic hepatic, gsd iv, neuromuscular form, adult, with isolated myopathy, gsd iv, neuromuscular form, childhood, gsd iv, neuromuscular form, congenital, gsd iv, neuromuscular form, fatal perinatal, gsd iv, nonprogressive hepatic, gsd type 4, gsd type iv, gsd4, type iv glycogenoses, type iv glycogenosis, 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="The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The fatal perinatal neuromuscular subtype presents in utero with fetal akinesia deformation sequence, including decreased fetal movements, polyhydramnios, and fetal hydrops. Death usually occurs in the neonatal period. The congenital neuromuscular subtype presents in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy. Death usually occurs in early infancy. Infants with the classic (progressive) hepatic subtype may appear normal at birth, but rapidly develop failure to thrive; hepatomegaly, liver dysfunction, and progressive liver cirrhosis; hypotonia; and cardiomyopathy. Without liver transplantation, death from liver failure usually occurs by age five years. Children with the non-progressive hepatic subtype tend to present with hepatomegaly, liver dysfunction, myopathy, and hypotonia; however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=6642
ConceptID=C0017923
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glycogen storage disease, type IV<span class="h1sub">(GSD4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6642</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0017923</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>AMYLOPECTINOSIS; ANDERSEN DISEASE; BRANCHER DEFICIENCY; CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN; GBE1 DEFICIENCY; GLYCOGEN BRANCHING ENZYME DEFICIENCY; Glycogen storage disease due to glycogen branching enzyme deficiency; Glycogen storage disease type 4; Glycogenosis 4; GLYCOGENOSIS IV; GSD 4; GSD IV; GSD4</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Branching enzyme deficiency (11179002); Glycogen storage disease type IV (11179002); Andersen disease (11179002); Glycogenosis, type 4 (11179002); Glycogen storage disease, type IV (11179002); 1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency (11179002); Brancher deficiency glycogen storage disease (11179002); Amylopectinosis (11179002); Andersen's disease (11179002); GSD IV (11179002); Branching-transferase deficiency glycogenosis (11179002); Deficiency of branching enzyme (124267007); Deficiency of amylo-(1,4,6)-transglycosylase (124267007); Deficiency of 1,4-alpha-glucan branching enzyme (124267007); Glycogen storage disease, type 4 (11179002)</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)&#10;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="GBE1 - ID: 2632 - NCBI Gene" href="/gene/2632" class="medgenPMinfo">GBE1</a> (3p12.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0009292" target="_blank">MONDO:0009292</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/232500" target="_blank">232500</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&amp;Expert=367">ORPHA367</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>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK115333" target="_blank">Glycogen Storage Disease Type IV</a></div><div>The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The fatal perinatal neuromuscular subtype presents in utero with fetal akinesia deformation sequence, including decreased fetal movements, polyhydramnios, and fetal hydrops. Death usually occurs in the neonatal period. The congenital neuromuscular subtype presents in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy. Death usually occurs in early infancy. Infants with the classic (progressive) hepatic subtype may appear normal at birth, but rapidly develop failure to thrive; hepatomegaly, liver dysfunction, and progressive liver cirrhosis; hypotonia; and cardiomyopathy. Without liver transplantation, death from liver failure usually occurs by age five years. Children with the non-progressive hepatic subtype tend to present with hepatomegaly, liver dysfunction, myopathy, and hypotonia; however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK115333#gsd4.Summary" target="NBK115333">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK115333#gsd4.Diagnosis" target="NBK115333">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK115333#gsd4.Clinical_Characteristics" target="NBK115333">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK115333#gsd4.Genetically_Related_Allelic_Disorde" target="NBK115333">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK115333#gsd4.Differential_Diagnosis" target="NBK115333">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK115333#gsd4.Management" target="NBK115333">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK115333#gsd4.Genetic_Counseling" target="NBK115333">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK115333#gsd4.Resources" target="NBK115333">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK115333#gsd4.Molecular_Genetics" target="NBK115333">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK115333#gsd4.References" target="NBK115333">References</a>  |  <a class="medgenPMinfo" href="/books/NBK115333#gsd4.Chapter_Notes" target="NBK115333">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Pilar L Magoulas  |  Ayman W El-Hattab   <a href="/books/NBK115333" target="NBK115333" title="NCBI Bookshelf: Glycogen Storage Disease Type IV">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Glycogen storage disease IV (GSD4) is a clinically heterogeneous disorder. The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 groups: perinatal, presenting as fetal akinesia deformation sequence (FADS) and perinatal death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult polyglucosan body disease (Bruno et al., 2004). The enzyme deficiency results in tissue accumulation of abnormal glycogen with fewer branching points and longer outer branches, resembling an amylopectin-like structure, also known as polyglucosan (Tay et al., 2004).&#13;
Bruno et al. (2007) provided a review of the neuromuscular forms of glycogen branching enzyme deficiency.  <a target="_blank" href="http://www.omim.org/entry/232500">http://www.omim.org/entry/232500</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.<br /><br />The fatal perinatal neuromuscular type is the most severe form of GSD IV, with signs developing before birth. Excess fluid may build up around the fetus (polyhydramnios) and in the fetus' body. Affected fetuses have a condition called fetal akinesia deformation sequence, which causes a decrease in fetal movement and can lead to joint stiffness (arthrogryposis) after birth. Infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy). These infants usually do not survive past the newborn period due to weakened heart and breathing muscles.<br /><br />The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. Affected infants have severe hypotonia, which affects the muscles needed for breathing. These babies often have dilated cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Infants with the congenital muscular type of GSD IV typically survive only a few months.<br /><br />The progressive hepatic type is the most common form of GSD IV. Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate (failure to thrive) and develop an enlarged liver (hepatomegaly). Children with this type develop a form of liver disease called cirrhosis that often is irreversible. High blood pressure in the vein that supplies blood to the liver (portal hypertension) and an abnormal buildup of fluid in the abdominal cavity (ascites) can also occur. By age 1 or 2, affected children develop hypotonia. Children with the progressive hepatic type of GSD IV often die of liver failure in early childhood.<br /><br />The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. People with this type of the disorder can also have hypotonia and muscle weakness (myopathy). Most individuals with this type survive into adulthood, although life expectancy varies depending on the severity of the signs and symptoms.<br /><br />The childhood neuromuscular type of GSD IV develops in late childhood and is characterized by myopathy and dilated cardiomyopathy. The severity of this type of GSD IV varies greatly; some people have only mild muscle weakness while others have severe cardiomyopathy and die in early adulthood.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv">https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv</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_370652"><div><strong>Tubulointerstitial fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370652</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)&#10;Click for more information.">C1969372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370652">Feature record</a> | <a href="/medgen?term=%22Tubulointerstitial%20fibrosis%22%5BClinical%20Features%5D%20OR%20370652%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3130"><div><strong>Clubfoot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3130</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)&#10;Click for more information.">C0009081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3130">Feature record</a> | <a href="/medgen?term=%22Clubfoot%22%5BClinical%20Features%5D%20OR%203130%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9375"><div><strong>Portal hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9375</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)&#10;Click for more information.">C0020541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Increased pressure in the portal vein.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9375">Feature record</a> | <a href="/medgen?term=%22Portal%20hypertension%22%5BClinical%20Features%5D%20OR%209375%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140901"><div><strong>Bradycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140901</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)&#10;Click for more information.">C0428977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A slower than normal heart rate (in adults, slower than 60 beats per minute).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140901">Feature record</a> | <a href="/medgen?term=%22Bradycardia%22%5BClinical%20Features%5D%20OR%20140901%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_209232"><div><strong>Cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</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)&#10;Click for more information.">C0878544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/209232">Feature record</a> | <a href="/medgen?term=%22Cardiomyopathy%22%5BClinical%20Features%5D%20OR%20209232%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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)&#10;Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_416"><div><strong>Ascites</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416</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)&#10;Click for more information.">C0003962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/416">Feature record</a> | <a href="/medgen?term=%22Ascites%22%5BClinical%20Features%5D%20OR%20416%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5027"><div><strong>Esophageal varix</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5027</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)&#10;Click for more information.">C0014867</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Extreme dilation of the submucusoal veins in the lower portion of the esophagus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5027">Feature record</a> | <a href="/medgen?term=%22Esophageal%20varix%22%5BClinical%20Features%5D%20OR%205027%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9225"><div><strong>Hepatosplenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9225</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)&#10;Click for more information.">C0019214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Simultaneous enlargement of the liver and spleen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9225">Feature record</a> | <a href="/medgen?term=%22Hepatosplenomegaly%22%5BClinical%20Features%5D%20OR%209225%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7368"><div><strong>Cirrhosis of liver</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7368</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)&#10;Click for more information.">C0023890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7368">Feature record</a> | <a href="/medgen?term=%22Cirrhosis%20of%20liver%22%5BClinical%20Features%5D%20OR%207368%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_88444"><div><strong>Liver failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88444</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)&#10;Click for more information.">C0085605</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/88444">Feature record</a> | <a href="/medgen?term=%22Liver%20failure%22%5BClinical%20Features%5D%20OR%2088444%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</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)&#10;Click for more information.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_356648"><div><strong>Reduced tendon reflexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356648</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)&#10;Click for more information.">C1866934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356648">Feature record</a> | <a href="/medgen?term=%22Reduced%20tendon%20reflexes%22%5BClinical%20Features%5D%20OR%20356648%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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)&#10;Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%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)&#10;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_83069"><div><strong>Flexion contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83069</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)&#10;Click for more information.">C0333068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/83069">Feature record</a> | <a href="/medgen?term=%22Flexion%20contracture%22%5BClinical%20Features%5D%20OR%2083069%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</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)&#10;Click for more information.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1830310"><div><strong>Arthrogryposis multiplex congenita</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830310</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)&#10;Click for more information.">C5779613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Multiple congenital contractures in different body areas.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1830310">Feature record</a> | <a href="/medgen?term=%22Arthrogryposis%20multiplex%20congenita%22%5BClinical%20Features%5D%20OR%201830310%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4451"><div><strong>Edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4451</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)&#10;Click for more information.">C0013604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4451">Feature record</a> | <a href="/medgen?term=%22Edema%22%5BClinical%20Features%5D%20OR%204451%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_868058"><div><strong>Abnormal circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868058</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)&#10;Click for more information.">C4022449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any deviation from the normal circulating creatine kinase concentration.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/868058">Feature record</a> | <a href="/medgen?term=%22Abnormal%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%20868058%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</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)&#10;Click for more information.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6947"><div><strong>Hydrops fetalis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6947</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)&#10;Click for more information.">C0020305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6947">Feature record</a> | <a href="/medgen?term=%22Hydrops%20fetalis%22%5BClinical%20Features%5D%20OR%206947%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_68618"><div><strong>Decreased fetal movement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68618</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)&#10;Click for more information.">C0235659</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal reduction in quantity or strength of fetal movements.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/68618">Feature record</a> | <a href="/medgen?term=%22Decreased%20fetal%20movement%22%5BClinical%20Features%5D%20OR%2068618%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubfoot</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_868058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal circulating creatine kinase concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Edema</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased fetal movement</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6947" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrops fetalis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bradycardia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Portal hypertension</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_416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ascites</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cirrhosis of liver</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5027" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal varix</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatosplenomegaly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver failure</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_370652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tubulointerstitial fibrosis</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_1830310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis multiplex congenita</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flexion contracture</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</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_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced tendon reflexes</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017919[DISCUI]&amp;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&amp;from_uid=6639" ref="ncbi_uid=6639">V</a></span></span><span class="TLline"><a href="/medgen/6639" ref="tree=GTR&amp;ncbi_uid=6639&amp;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]&amp;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&amp;from_uid=468559" ref="ncbi_uid=468559">V</a></span></span><span class="TLline"><a href="/medgen/468559" ref="tree=GTR&amp;ncbi_uid=468559&amp;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]&amp;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&amp;from_uid=854172" ref="ncbi_uid=854172">V</a></span></span><span class="TLline"><a href="/medgen/854172" ref="tree=GTR&amp;ncbi_uid=854172&amp;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]&amp;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&amp;from_uid=107772" ref="ncbi_uid=107772">V</a></span></span><span class="TLline"><a href="/medgen/107772" ref="tree=GTR&amp;ncbi_uid=107772&amp;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]&amp;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&amp;from_uid=442778" ref="ncbi_uid=442778">V</a></span></span><span class="TLline"><a href="/medgen/442778" ref="tree=GTR&amp;ncbi_uid=442778&amp;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]&amp;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&amp;from_uid=335112" ref="ncbi_uid=335112">V</a></span></span><span class="TLline"><a href="/medgen/335112" ref="tree=GTR&amp;ncbi_uid=335112&amp;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]&amp;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&amp;from_uid=419152" ref="ncbi_uid=419152">V</a></span></span><span class="TLline"><a href="/medgen/419152" ref="tree=GTR&amp;ncbi_uid=419152&amp;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]&amp;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&amp;from_uid=442873" ref="ncbi_uid=442873">V</a></span></span><span class="TLline"><a href="/medgen/442873" ref="tree=GTR&amp;ncbi_uid=442873&amp;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]&amp;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]&amp;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&amp;from_uid=6641" ref="ncbi_uid=6641">V</a></span></span><span class="TLline"><a href="/medgen/6641" ref="tree=GTR&amp;ncbi_uid=6641&amp;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]&amp;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&amp;from_uid=369842" ref="ncbi_uid=369842">V</a></span></span><span class="TLline"><a href="/medgen/369842" ref="tree=GTR&amp;ncbi_uid=369842&amp;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]&amp;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&amp;from_uid=369843" ref="ncbi_uid=369843">V</a></span></span><span class="TLline"><a href="/medgen/369843" ref="tree=GTR&amp;ncbi_uid=369843&amp;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&amp;from_uid=369844" ref="ncbi_uid=369844">V</a></span></span><span class="TLline"><a href="/medgen/369844" ref="tree=GTR&amp;ncbi_uid=369844&amp;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&amp;ncbi_uid=369845&amp;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]&amp;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&amp;from_uid=120613" ref="ncbi_uid=120613">V</a></span></span><span class="TLline"><a href="/medgen/120613" ref="tree=GTR&amp;ncbi_uid=120613&amp;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]&amp;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&amp;from_uid=462104" ref="ncbi_uid=462104">V</a></span></span><span class="TLline"><a href="/medgen/462104" ref="tree=GTR&amp;ncbi_uid=462104&amp;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]&amp;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&amp;from_uid=6640" ref="ncbi_uid=6640">V</a></span></span><span class="TLline"><a href="/medgen/6640" ref="tree=GTR&amp;ncbi_uid=6640&amp;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]&amp;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&amp;from_uid=78644" ref="ncbi_uid=78644">V</a></span></span><span class="TLline"><a href="/medgen/78644" ref="tree=GTR&amp;ncbi_uid=78644&amp;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]&amp;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]&amp;test_type=Research&amp;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&amp;from_uid=415885" ref="ncbi_uid=415885">V</a></span></span><span class="TLline"><a href="/medgen/415885" ref="tree=GTR&amp;ncbi_uid=415885&amp;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]&amp;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&amp;from_uid=5340" ref="ncbi_uid=5340">V</a></span></span><span class="TLline"><a href="/medgen/5340" ref="tree=GTR&amp;ncbi_uid=5340&amp;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&amp;ncbi_uid=148252&amp;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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017923[DISCUI]&amp;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&amp;from_uid=6642" ref="ncbi_uid=6642">V</a></span></span><span class="TLline">Glycogen storage disease, type IV</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]&amp;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&amp;from_uid=5341" ref="ncbi_uid=5341">V</a></span></span><span class="TLline"><a href="/medgen/5341" ref="tree=GTR&amp;ncbi_uid=5341&amp;link_uid=5341" title="View MedGen record for 'Glycogen storage disease, type V'">Glycogen storage disease, type V</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=C0017926[DISCUI]&amp;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&amp;from_uid=5342" ref="ncbi_uid=5342">V</a></span></span><span class="TLline"><a href="/medgen/5342" ref="tree=GTR&amp;ncbi_uid=5342&amp;link_uid=5342" title="View MedGen record for 'Glycogen storage disease, type VII'">Glycogen storage disease, type VII</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=C0272066[DISCUI]&amp;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]&amp;test_type=Research&amp;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&amp;from_uid=82895" ref="ncbi_uid=82895">V</a></span></span><span class="TLline"><a href="/medgen/82895" ref="tree=GTR&amp;ncbi_uid=82895&amp;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]&amp;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&amp;from_uid=414536" ref="ncbi_uid=414536">V</a></span></span><span class="TLline"><a href="/medgen/414536" ref="tree=GTR&amp;ncbi_uid=414536&amp;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 IV</span><ul><li><span class="TLline"><a href="/medgen/342338" ref="tree=MeSH" title="MedGen record for Adult polyglucosan body disease">Adult polyglucosan body disease</a></span></li><li><span class="TLline"><a href="/medgen/343525" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/1842442" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form</a></span></li><li><span class="TLline"><a href="/medgen/343524" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/343523" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/383883" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/344701" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form">Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form</a></span></li><li><span class="TLline"><a href="/medgen/1826169" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form">Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></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/36796138">Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koch RL,
Soler-Alfonso C,
Kiely BT,
Asai A,
Smith AL,
Bali DS,
Kang PB,
Landstrom AP,
Akman HO,
Burrow TA,
Orthmann-Murphy JL,
Goldman DS,
Pendyal S,
El-Gharbawy AH,
Austin SL,
Case LE,
Schiffmann R,
Hirano M,
Kishnani PS</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2023 Mar;138(3):107525.
Epub 2023 Jan 25
doi: 10.1016/j.ymgme.2023.107525.
<span class="bold">PMID: </span><a href="/pubmed/36796138" target="_blank">36796138</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22glycogen%20storage%20disease%2C%20type%20iv%22%5Btiab%3A~0%5D)%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 (1)</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/38912588">Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koch RL,
Kiely BT,
Choi SJ,
Jeck WR,
Flores LS,
Sood V,
Alam S,
Porta G,
LaVecchio K,
Soler-Alfonso C,
Kishnani PS</span><br />
<span class="medgenPMjournal">JCI Insight</span>
2024 May 14;9(12)
doi: 10.1172/jci.insight.177722.
<span class="bold">PMID: </span><a href="/pubmed/38912588" target="_blank">38912588</a><a href="/pmc/articles/PMC11383185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36796138">Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koch RL,
Soler-Alfonso C,
Kiely BT,
Asai A,
Smith AL,
Bali DS,
Kang PB,
Landstrom AP,
Akman HO,
Burrow TA,
Orthmann-Murphy JL,
Goldman DS,
Pendyal S,
El-Gharbawy AH,
Austin SL,
Case LE,
Schiffmann R,
Hirano M,
Kishnani PS</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2023 Mar;138(3):107525.
Epub 2023 Jan 25
doi: 10.1016/j.ymgme.2023.107525.
<span class="bold">PMID: </span><a href="/pubmed/36796138" target="_blank">36796138</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/26147564">Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alamillo CL,
Powis Z,
Farwell K,
Shahmirzadi L,
Weltmer EC,
Turocy J,
Lowe T,
Kobelka C,
Chen E,
Basel D,
Ashkinadze E,
D'Augelli L,
Chao E,
Tang S</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
2015 Nov;35(11):1073-8.
Epub 2015 Aug 3
doi: 10.1002/pd.4648.
<span class="bold">PMID: </span><a href="/pubmed/26147564" target="_blank">26147564</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18031562">Primary periodic paralyses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
<span class="medgenPMjournal">Acta Neurol Scand</span>
2008 Mar;117(3):145-58.
Epub 2007 Nov 20
doi: 10.1111/j.1600-0404.2007.00963.x.
<span class="bold">PMID: </span><a href="/pubmed/18031562" target="_blank">18031562</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20IV%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36796138">Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koch RL,
Soler-Alfonso C,
Kiely BT,
Asai A,
Smith AL,
Bali DS,
Kang PB,
Landstrom AP,
Akman HO,
Burrow TA,
Orthmann-Murphy JL,
Goldman DS,
Pendyal S,
El-Gharbawy AH,
Austin SL,
Case LE,
Schiffmann R,
Hirano M,
Kishnani PS</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2023 Mar;138(3):107525.
Epub 2023 Jan 25
doi: 10.1016/j.ymgme.2023.107525.
<span class="bold">PMID: </span><a href="/pubmed/36796138" target="_blank">36796138</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34999986">A surprising cause of proteinuria: Answers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Demir BK,
Kanık A,
Köse M,
Hişmi BÖ,
Baran M</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2022 May;37(5):1033-1039.
Epub 2022 Jan 9
doi: 10.1007/s00467-021-05363-7.
<span class="bold">PMID: </span><a href="/pubmed/34999986" target="_blank">34999986</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18031562">Primary periodic paralyses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
<span class="medgenPMjournal">Acta Neurol Scand</span>
2008 Mar;117(3):145-58.
Epub 2007 Nov 20
doi: 10.1111/j.1600-0404.2007.00963.x.
<span class="bold">PMID: </span><a href="/pubmed/18031562" target="_blank">18031562</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15310318">Congenital form of glycogen storage disease type IV: a case report and a review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maruyama K,
Suzuki T,
Koizumi T,
Sugie H,
Fukuda T,
Ito M,
Hirato J</span><br />
<span class="medgenPMjournal">Pediatr Int</span>
2004 Aug;46(4):474-7.
doi: 10.1111/j.1442-200x.2004.01916.x.
<span class="bold">PMID: </span><a href="/pubmed/15310318" target="_blank">15310318</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12618563">Glycogen storage diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wolfsdorf JI,
Weinstein DA</span><br />
<span class="medgenPMjournal">Rev Endocr Metab Disord</span>
2003 Mar;4(1):95-102.
doi: 10.1023/a:1021831621210.
<span class="bold">PMID: </span><a href="/pubmed/12618563" target="_blank">12618563</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20IV%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 (73)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38912588">Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koch RL,
Kiely BT,
Choi SJ,
Jeck WR,
Flores LS,
Sood V,
Alam S,
Porta G,
LaVecchio K,
Soler-Alfonso C,
Kishnani PS</span><br />
<span class="medgenPMjournal">JCI Insight</span>
2024 May 14;9(12)
doi: 10.1172/jci.insight.177722.
<span class="bold">PMID: </span><a href="/pubmed/38912588" target="_blank">38912588</a><a href="/pmc/articles/PMC11383185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27832700">Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yi H,
Zhang Q,
Brooks ED,
Yang C,
Thurberg BL,
Kishnani PS,
Sun B</span><br />
<span class="medgenPMjournal">Hum Gene Ther</span>
2017 Mar;28(3):286-294.
Epub 2016 Nov 10
doi: 10.1089/hum.2016.099.
<span class="bold">PMID: </span><a href="/pubmed/27832700" target="_blank">27832700</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20531024">Systemic progression of type IV glycogen storage disease after liver transplantation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Willot S,
Marchand V,
Rasquin A,
Alvarez F,
Martin SR</span><br />
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
2010 Nov;51(5):661-4.
doi: 10.1097/MPG.0b013e3181d29780.
<span class="bold">PMID: </span><a href="/pubmed/20531024" target="_blank">20531024</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15084216">Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ricardo Pérez Riera A,
Ferreira C,
Dubner SJ,
Schapachnik E</span><br />
<span class="medgenPMjournal">Ann Noninvasive Electrocardiol</span>
2004 Apr;9(2):175-9.
doi: 10.1111/j.1542-474X.2004.92552.x.
<span class="bold">PMID: </span><a href="/pubmed/15084216" target="_blank">15084216</a><a href="/pmc/articles/PMC6932481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8245377">Nutrition therapy for hepatic glycogen storage diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goldberg T,
Slonim AE</span><br />
<span class="medgenPMjournal">J Am Diet Assoc</span>
1993 Dec;93(12):1423-30.
doi: 10.1016/0002-8223(93)92246-t.
<span class="bold">PMID: </span><a href="/pubmed/8245377" target="_blank">8245377</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20IV%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38912588">Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koch RL,
Kiely BT,
Choi SJ,
Jeck WR,
Flores LS,
Sood V,
Alam S,
Porta G,
LaVecchio K,
Soler-Alfonso C,
Kishnani PS</span><br />
<span class="medgenPMjournal">JCI Insight</span>
2024 May 14;9(12)
doi: 10.1172/jci.insight.177722.
<span class="bold">PMID: </span><a href="/pubmed/38912588" target="_blank">38912588</a><a href="/pmc/articles/PMC11383185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20531024">Systemic progression of type IV glycogen storage disease after liver transplantation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Willot S,
Marchand V,
Rasquin A,
Alvarez F,
Martin SR</span><br />
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
2010 Nov;51(5):661-4.
doi: 10.1097/MPG.0b013e3181d29780.
<span class="bold">PMID: </span><a href="/pubmed/20531024" target="_blank">20531024</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15310318">Congenital form of glycogen storage disease type IV: a case report and a review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maruyama K,
Suzuki T,
Koizumi T,
Sugie H,
Fukuda T,
Ito M,
Hirato J</span><br />
<span class="medgenPMjournal">Pediatr Int</span>
2004 Aug;46(4):474-7.
doi: 10.1111/j.1442-200x.2004.01916.x.
<span class="bold">PMID: </span><a href="/pubmed/15310318" target="_blank">15310318</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10603098">Liver transplantation for glycogen storage disease types I, III, and IV.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matern D,
Starzl TE,
Arnaout W,
Barnard J,
Bynon JS,
Dhawan A,
Emond J,
Haagsma EB,
Hug G,
Lachaux A,
Smit GP,
Chen YT</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
1999 Dec;158 Suppl 2(Suppl 2):S43-8.
doi: 10.1007/pl00014320.
<span class="bold">PMID: </span><a href="/pubmed/10603098" target="_blank">10603098</a><a href="/pmc/articles/PMC3006437" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10384399">Glycogen storage disease type IV presenting as hydrops fetalis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alegria A,
Martins E,
Dias M,
Cunha A,
Cardoso ML,
Maire I</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
1999 May;22(3):330-2.
doi: 10.1023/a:1005568507267.
<span class="bold">PMID: </span><a href="/pubmed/10384399" target="_blank">10384399</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20IV%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 (41)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38912588">Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koch RL,
Kiely BT,
Choi SJ,
Jeck WR,
Flores LS,
Sood V,
Alam S,
Porta G,
LaVecchio K,
Soler-Alfonso C,
Kishnani PS</span><br />
<span class="medgenPMjournal">JCI Insight</span>
2024 May 14;9(12)
doi: 10.1172/jci.insight.177722.
<span class="bold">PMID: </span><a href="/pubmed/38912588" target="_blank">38912588</a><a href="/pmc/articles/PMC11383185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38012812">Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lefèvre CR,
Collardeau-Frachon S,
Streichenberger N,
Berenguer-Martin S,
Clémenson A,
Massardier J,
Prieur F,
Laurichesse H,
Laffargue F,
Acquaviva-Bourdain C,
Froissart R,
Pettazzoni M</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2024 Mar;47(2):255-269.
Epub 2023 Nov 27
doi: 10.1002/jimd.12692.
<span class="bold">PMID: </span><a href="/pubmed/38012812" target="_blank">38012812</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33332610">The potential of dietary treatment in patients with glycogen storage disease type IV.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Derks TGJ,
Peeks F,
de Boer F,
Fokkert-Wilts M,
van der Doef HPJ,
van den Heuvel MC,
Szymańska E,
Rokicki D,
Ryan PT,
Weinstein DA</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2021 May;44(3):693-704.
Epub 2020 Dec 21
doi: 10.1002/jimd.12339.
<span class="bold">PMID: </span><a href="/pubmed/33332610" target="_blank">33332610</a><a href="/pmc/articles/PMC8246821" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15669690">The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Michelakakis H,
Dimitriou E,
Labadaridis I</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2004;27(5):705-6.
doi: 10.1023/b:boli.0000043025.17721.fc.
<span class="bold">PMID: </span><a href="/pubmed/15669690" target="_blank">15669690</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1966881">Ground-glass hepatocytes: light and electron microscopy. Characterization of the different types.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vázquez JJ</span><br />
<span class="medgenPMjournal">Histol Histopathol</span>
1990 Jul;5(3):379-86.
<span class="bold">PMID: </span><a href="/pubmed/1966881" target="_blank">1966881</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20IV%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 (27)</a></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
</div>
<div class="portlet mgSection" id="ID_106">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0017923%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (41)</a></li>
<li><a href="/gtr/tests?term=C0017923%5bDISCUI%5d&amp;filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
<li><a href="/gtr/tests?term=C0017923%5bDISCUI%5d&amp;filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
<li><a href="/gtr/tests?term=C0017923%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
<li><a href="/gtr/tests?term=C0017923%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C0017923%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (8)</a></li>
<li><a href="/gtr/tests?term=C0017923%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (65)</a></li>
<li><a href="/gtr/tests?term=C0017923%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (18)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0017923%5bDISCUI%5d" target="_blank">See all (77)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=232500" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=367" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Glycogen%20storage%20disease,%20type%20IV" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22glycogen%20storage%20disease%2C%20type%20iv%22%5Btiab%3A~0%5D)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Glycogen%20storage%20disease%2C%20type%20IV%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=607839" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2632[geneid]" target="_blank">View GBE1 variations in ClinVar</a></li><li><a href="/nuccore/226491119" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=232500" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Glycogen+Storage+Disease+Type+4/3124" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/glycogen_storage_disease_iv" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Glycogen%20storage%20disease,%20type%20IV" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2520/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/clinical?term=Glycogen%20storage%20disease,%20type%20IV" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Glycogen%20storage%20disease,%20type%20IV%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=6642" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=6642" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0017923[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0017923[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&amp;from_uid=6642" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&amp;from_uid=6642" ref="log$=recordlinks">OMIM</a>
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&amp;from_uid=6642" ref="log$=recordlinks">OMIM(Genes)</a>
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&amp;from_uid=6642" ref="log$=recordlinks">PMC Articles</a>
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&amp;from_uid=6642" ref="log$=recordlinks">PubMed</a>
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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