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<meta name="keywords" content="C1961835, acid beta-glucosidase deficiency, chronic gaucher disease, deficiencies, gba, deficiency, gba, disease or syndrome, disease, chronic gaucher, disease, non-neuronopathic gaucher, gaucher disease type 1, gaucher disease type i, gaucher disease, chronic, gaucher disease, non neuronopathic form, gaucher disease, non-neuronopathic, gaucher disease, non-neuronopathic form, gaucher disease, noncerebral juvenile, gaucher disease, type 1, gaucher disease, type i, gaucher's disease type i, gaucher's disease, type 1, gaucher's disease, type i, gba deficiencies, gba deficiency, gba1, gd 1, gd i, gd1, glucocerebrosidase deficiency, glucocerebrosidase deficiency type i, non neuronopathic gaucher disease, non-cerebral juvenile gaucher disease, non-neuronopathic gaucher disease, noncerebral juvenile gaucher's disease, type 1 gaucher disease, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=409531
|
||
ConceptID=C1961835
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Gaucher disease type I<span class="h1sub">(GD1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409531</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1961835</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>ACID BETA-GLUCOSIDASE DEFICIENCY; Gaucher Disease Type 1; GAUCHER DISEASE, NONCEREBRAL JUVENILE; Gaucher's disease, type 1; GBA DEFICIENCY; GD 1; GD I; GD1; GLUCOCEREBROSIDASE DEFICIENCY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Gaucher's disease, type I (62201009); Noncerebral juvenile Gaucher's disease (62201009); Glucocerebrosidase deficiency type I (62201009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GBA1 - ID: 2629 - NCBI Gene" href="/gene/2629" class="medgenPMinfo">GBA1</a> (1q22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009265" target="_blank">MONDO:0009265</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/230800" target="_blank">230800</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77259">ORPHA77259</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/NBK1269" target="_blank">Gaucher Disease</a></div><div>Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1
|
||
GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. [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/NBK1269#gaucher.Summary" target="NBK1269">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1269#gaucher.GeneReview_Scope" target="NBK1269">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1269#gaucher.Diagnosis" target="NBK1269">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1269#gaucher.Clinical_Characteristics" target="NBK1269">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1269#gaucher.Genetically_Related_Allelic_Diso" target="NBK1269">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1269#gaucher.Differential_Diagnosis" target="NBK1269">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1269#gaucher.Management" target="NBK1269">Management</a> | <a class="medgenPMinfo" href="/books/NBK1269#gaucher.Genetic_Counseling" target="NBK1269">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1269#gaucher.Resources" target="NBK1269">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1269#gaucher.Molecular_Genetics" target="NBK1269">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1269#gaucher.Chapter_Notes" target="NBK1269">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1269#gaucher.References" target="NBK1269">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Derralynn A Hughes | Gregory M Pastores <a href="/books/NBK1269" target="NBK1269" title="NCBI Bookshelf: Gaucher Disease">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 />Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).
|
||
Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I (GD1), acute neuronopathic type II (GD2; 230900), and subacute neuronopathic type III (GD3; 231000). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).
|
||
All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes that may be distinguished: perinatal lethal Gaucher disease (608013), which is a severe form of type II, and Gaucher disease type IIIC (231005), which also has cardiovascular calcifications.
|
||
See also 610539 for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP; 176801), which is an activator of beta-glucosidase. <a target="_blank" href="http://www.omim.org/entry/230800">http://www.omim.org/entry/230800</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.<br /><br />Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), bone abnormalities such as bone pain and fractures, and joint conditions such as arthritis.<br /><br />Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2.<br /><br />The most severe type of Gaucher disease is a very rare form of type 2 called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.<br /><br />Another form of Gaucher disease is known as the cardiovascular type (or type 3c) because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly). <a target="_blank" href="https://medlineplus.gov/genetics/condition/gaucher-disease">https://medlineplus.gov/genetics/condition/gaucher-disease</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_57489"><div><strong>Bone pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57489</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/57489">Feature record</a> | <a href="/medgen?term=%22Bone%20pain%22%5BClinical%20Features%5D%20OR%2057489%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_10122"><div><strong>Multiple myeloma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10122</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026764</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Multiple myeloma is a neoplastic plasma cell disorder characterized by clonal proliferation of malignant plasma cells in the bone marrow microenvironment, monoclonal protein in the blood or urine, and associated organ dysfunction (Palumbo and Anderson, 2011).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10122">Feature record</a> | <a href="/medgen?term=%22Multiple%20myeloma%22%5BClinical%20Features%5D%20OR%2010122%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_383796"><div><strong>Erlenmeyer flask deformity of the femurs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383796</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Flaring of distal femur.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/383796">Feature record</a> | <a href="/medgen?term=%22Erlenmeyer%20flask%20deformity%20of%20the%20femurs%22%5BClinical%20Features%5D%20OR%20383796%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1621"><div><strong>Aortic valve stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of a stenosis (narrowing) of the aortic valve.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1621">Feature record</a> | <a href="/medgen?term=%22Aortic%20valve%20stenosis%22%5BClinical%20Features%5D%20OR%201621%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_7670"><div><strong>Mitral regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7670">Feature record</a> | <a href="/medgen?term=%22Mitral%20regurgitation%22%5BClinical%20Features%5D%20OR%207670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_425404"><div><strong>Pulmonary arterial hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>425404</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2973725</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/425404">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20arterial%20hypertension%22%5BClinical%20Features%5D%20OR%20425404%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1526"><div><strong>Anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1526</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0002871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A reduction in erythrocytes volume or hemoglobin concentration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1526">Feature record</a> | <a href="/medgen?term=%22Anemia%22%5BClinical%20Features%5D%20OR%201526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4996"><div><strong>Epistaxis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4996</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0014591</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4996">Feature record</a> | <a href="/medgen?term=%22Epistaxis%22%5BClinical%20Features%5D%20OR%204996%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18281"><div><strong>Pancytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18281</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0030312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18281">Feature record</a> | <a href="/medgen?term=%22Pancytopenia%22%5BClinical%20Features%5D%20OR%2018281%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42095"><div><strong>Pathologic fracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42095</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0016663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42095">Feature record</a> | <a href="/medgen?term=%22Pathologic%20fracture%22%5BClinical%20Features%5D%20OR%2042095%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10200"><div><strong>Avascular necrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10200</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10200">Feature record</a> | <a href="/medgen?term=%22Avascular%20necrosis%22%5BClinical%20Features%5D%20OR%2010200%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75497"><div><strong>Vertebral compression fracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75497</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0262431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75497">Feature record</a> | <a href="/medgen?term=%22Vertebral%20compression%20fracture%22%5BClinical%20Features%5D%20OR%2075497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3938"><div><strong>Dyspnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3938</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3938">Feature record</a> | <a href="/medgen?term=%22Dyspnea%22%5BClinical%20Features%5D%20OR%203938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116009"><div><strong>Pulmonary infiltrates</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116009</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0235896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116009">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20infiltrates%22%5BClinical%20Features%5D%20OR%20116009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1788738"><div><strong>Abnormal pulmonary interstitial morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788738</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5441745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1788738">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pulmonary%20interstitial%20morphology%22%5BClinical%20Features%5D%20OR%201788738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9372"><div><strong>Hypersplenism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9372</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A malfunctioning of the spleen in which it prematurely destroys red blood cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9372">Feature record</a> | <a href="/medgen?term=%22Hypersplenism%22%5BClinical%20Features%5D%20OR%209372%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57992"><div><strong>Hyperpigmentation of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57992</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A darkening of the skin related to an increase in melanin production and deposition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57992">Feature record</a> | <a href="/medgen?term=%22Hyperpigmentation%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%2057992%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140841"><div><strong>Macular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140841</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140841">Feature record</a> | <a href="/medgen?term=%22Macular%20atrophy%22%5BClinical%20Features%5D%20OR%20140841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370071"><div><strong>Abnormality of the eye</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370071</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4316870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any abnormality of the eye, including location, spacing, and intraocular abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370071">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20eye%22%5BClinical%20Features%5D%20OR%201370071%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epistaxis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancytopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><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_383796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erlenmeyer flask deformity of the femurs</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_1621" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic valve stenosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral regurgitation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_425404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary arterial 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_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1370071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the eye</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypersplenism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperpigmentation of the skin</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_10200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Avascular necrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pathologic fracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral compression fracture</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1788738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pulmonary interstitial morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyspnea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary infiltrates</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone pain</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10122" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple myeloma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN118946[DISCUI]&test_type=Clinical" ref="ncbi_uid=468463">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468463" ref="tree=GTR&ncbi_uid=468463&link_uid=468463" title="View MedGen record for 'Ashkenazi Jewish disorders'">Ashkenazi Jewish disorders</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=C0005859[DISCUI]&test_type=Clinical" ref="ncbi_uid=2685">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=2685" target="_blank" href="/omim/210900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1294%20OR%20NBK1398)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=2685">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=2685" ref="ncbi_uid=2685">V</a></span></span><span class="TLline"><a href="/medgen/2685" ref="tree=GTR&ncbi_uid=2685&link_uid=2685" title="View MedGen record for 'Bloom syndrome'">Bloom syndrome</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=C0010674[DISCUI]&test_type=Clinical" ref="ncbi_uid=41393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=41393" target="_blank" href="/omim/219700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1250/" ref="ncbi_uid=41393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=41393" ref="ncbi_uid=41393">V</a></span></span><span class="TLline"><a href="/medgen/41393" ref="tree=GTR&ncbi_uid=41393&link_uid=41393" title="View MedGen record for 'Cystic fibrosis'">Cystic fibrosis</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=C0013364[DISCUI]&test_type=Clinical" ref="ncbi_uid=41678">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=41678" target="_blank" href="/omim/223900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1180/" ref="ncbi_uid=41678">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=41678" ref="ncbi_uid=41678">V</a></span></span><span class="TLline"><a href="/medgen/41678" ref="tree=GTR&ncbi_uid=41678&link_uid=41678" title="View MedGen record for 'Familial dysautonomia'">Familial dysautonomia</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=C3468041[DISCUI]&test_type=Clinical" ref="ncbi_uid=483324">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=483324" target="_blank" href="/omim/227645">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=483324">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=483324" ref="ncbi_uid=483324">V</a></span></span><span class="TLline"><a href="/medgen/483324" ref="tree=GTR&ncbi_uid=483324&link_uid=483324" title="View MedGen record for 'Fanconi anemia complementation group C'">Fanconi anemia complementation group C</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1961835[DISCUI]&test_type=Clinical" ref="ncbi_uid=409531">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409531" target="_blank" href="/omim/230800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1269/" ref="ncbi_uid=409531">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409531" ref="ncbi_uid=409531">V</a></span></span><span class="TLline">Gaucher disease type I</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0238286[DISCUI]&test_type=Clinical" ref="ncbi_uid=68663">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=68663" target="_blank" href="/omim/252650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1214/" ref="ncbi_uid=68663">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=68663" ref="ncbi_uid=68663">V</a></span></span><span class="TLline"><a href="/medgen/68663" ref="tree=GTR&ncbi_uid=68663&link_uid=68663" title="View MedGen record for 'Mucolipidosis type IV'">Mucolipidosis type IV</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268242[DISCUI]&test_type=Clinical" ref="ncbi_uid=78650">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78650" target="_blank" href="/omim/257200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=78650">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78650" ref="ncbi_uid=78650">V</a></span></span><span class="TLline"><a href="/medgen/78650" ref="tree=GTR&ncbi_uid=78650&link_uid=78650" title="View MedGen record for 'Niemann-Pick disease, type A'">Niemann-Pick disease, type A</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=C0206307[DISCUI]&test_type=Clinical" ref="ncbi_uid=61565">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=61565" target="_blank" href="/omim/271900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1234/" ref="ncbi_uid=61565">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=61565" ref="ncbi_uid=61565">V</a></span></span><span class="TLline"><a href="/medgen/61565" ref="tree=GTR&ncbi_uid=61565&link_uid=61565" title="View MedGen record for 'Spongy degeneration of central nervous system'">Spongy degeneration of central nervous system</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=C0039373[DISCUI]&test_type=Clinical" ref="ncbi_uid=11713">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=11713" target="_blank" href="/omim/272800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1218/" ref="ncbi_uid=11713">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=11713" ref="ncbi_uid=11713">V</a></span></span><span class="TLline"><a href="/medgen/11713" ref="tree=GTR&ncbi_uid=11713&link_uid=11713" title="View MedGen record for 'Tay-Sachs disease'">Tay-Sachs 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=CN120377[DISCUI]&test_type=Clinical" ref="ncbi_uid=468543">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/NBK1218/" ref="ncbi_uid=468543">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468543" ref="tree=GTR&ncbi_uid=468543&link_uid=468543" title="View MedGen record for 'Juvenile (Subacute) Hexosaminidase A Deficiency'">Juvenile (Subacute) Hexosaminidase 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=C1848914[DISCUI]&test_type=Clinical" ref="ncbi_uid=336450">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336450" target="_blank" href="/omim/272800">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/336450" ref="tree=GTR&ncbi_uid=336450&link_uid=336450" title="View MedGen record for 'Tay-Sachs disease, B variant, adult form'">Tay-Sachs disease, B variant, adult form</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=C0013423[DISCUI]&test_type=Clinical" ref="ncbi_uid=3941">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/3941" ref="tree=GTR&ncbi_uid=3941&link_uid=3941" title="View MedGen record for 'Torsion dystonia'">Torsion dystonia</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/468463" ref="tree=MeSH" title="MedGen record for Ashkenazi Jewish disorders">Ashkenazi Jewish disorders</a></span><ul><li><span class="matched_ds">Gaucher disease type I</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11102&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Gaucher disease type I</span> in Orphanet.</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/35956356">Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iaccarino Idelson P,
|
||
Speranza E,
|
||
Marra M,
|
||
Pasanisi F,
|
||
Sammarco R,
|
||
Galletti F,
|
||
Strazzullo P,
|
||
Barbato A</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2022 Aug 3;14(15)
|
||
doi: 10.3390/nu14153180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35956356" target="_blank">35956356</a><a href="/pmc/articles/PMC9370155" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22954583">Minimal disease activity in Gaucher disease: criteria for definition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Rocco M,
|
||
Andria G,
|
||
Bembi B,
|
||
Carubbi F,
|
||
Giona F,
|
||
Giuffrida G,
|
||
Linari S,
|
||
Sibilio M,
|
||
Spina V,
|
||
Cappellini MD</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 Nov;107(3):521-5.
|
||
Epub 2012 Aug 17
|
||
doi: 10.1016/j.ymgme.2012.08.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22954583" target="_blank">22954583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8503443">Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sibille A,
|
||
Eng CM,
|
||
Kim SJ,
|
||
Pastores G,
|
||
Grabowski GA</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1993 Jun;52(6):1094-101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8503443" target="_blank">8503443</a><a href="/pmc/articles/PMC1682271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22gaucher%20disease%20type%20i%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 (8)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Gaucher.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased ß-glucocerebrosidase, Gaucher disease, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Gaucher-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Gaucher Disease; Decreased beta-glucocerebrosidase activity, 2022</a></h3>
|
||
</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/37210484">Neutral theory: applicability and neutrality of clinical study endpoints where a disease-specific instrument is available.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jandhyala R</span><br />
|
||
<span class="medgenPMjournal">BMC Med Res Methodol</span>
|
||
2023 May 20;23(1):121.
|
||
doi: 10.1186/s12874-023-01947-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37210484" target="_blank">37210484</a><a href="/pmc/articles/PMC10199426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37057944">Clinical Characteristics and GBA Gene Mutation Analysis of Gaucher Disease Type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Wu Y,
|
||
Wang L,
|
||
Wu Q,
|
||
Liu Q,
|
||
Li R</span><br />
|
||
<span class="medgenPMjournal">Clin Lab</span>
|
||
2023 Apr 1;69(4)
|
||
doi: 10.7754/Clin.Lab.2022.220816.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37057944" target="_blank">37057944</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35956356">Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iaccarino Idelson P,
|
||
Speranza E,
|
||
Marra M,
|
||
Pasanisi F,
|
||
Sammarco R,
|
||
Galletti F,
|
||
Strazzullo P,
|
||
Barbato A</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2022 Aug 3;14(15)
|
||
doi: 10.3390/nu14153180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35956356" target="_blank">35956356</a><a href="/pmc/articles/PMC9370155" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26674302">Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Utz J,
|
||
Whitley CB,
|
||
van Giersbergen PL,
|
||
Kolb SA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2016 Feb;117(2):172-8.
|
||
Epub 2015 Dec 2
|
||
doi: 10.1016/j.ymgme.2015.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26674302" target="_blank">26674302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25239509">Ghrelin, leptin and adiponectin levels in Gaucher disease type I patients on enzyme replacement therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Doneda D,
|
||
Lopes AL,
|
||
Teixeira BC,
|
||
Mittelstadt SD,
|
||
Moulin CC,
|
||
Schwartz IV</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr</span>
|
||
2015 Aug;34(4):727-31.
|
||
Epub 2014 Aug 30
|
||
doi: 10.1016/j.clnu.2014.08.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25239509" target="_blank">25239509</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gaucher%20disease%20type%20I%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 (24)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37210484">Neutral theory: applicability and neutrality of clinical study endpoints where a disease-specific instrument is available.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jandhyala R</span><br />
|
||
<span class="medgenPMjournal">BMC Med Res Methodol</span>
|
||
2023 May 20;23(1):121.
|
||
doi: 10.1186/s12874-023-01947-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37210484" target="_blank">37210484</a><a href="/pmc/articles/PMC10199426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37057944">Clinical Characteristics and GBA Gene Mutation Analysis of Gaucher Disease Type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Wu Y,
|
||
Wang L,
|
||
Wu Q,
|
||
Liu Q,
|
||
Li R</span><br />
|
||
<span class="medgenPMjournal">Clin Lab</span>
|
||
2023 Apr 1;69(4)
|
||
doi: 10.7754/Clin.Lab.2022.220816.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37057944" target="_blank">37057944</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34802413">Ambroxol Chaperone Therapy for Gaucher Disease Type I-Associated Liver Cirrhosis and Portal Hypertension: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang P,
|
||
Zheng MF,
|
||
Cui SY,
|
||
Zhang W,
|
||
Gao RP</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2022;22(6):658-662.
|
||
doi: 10.2174/1871530321666211119145230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34802413" target="_blank">34802413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22954583">Minimal disease activity in Gaucher disease: criteria for definition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Rocco M,
|
||
Andria G,
|
||
Bembi B,
|
||
Carubbi F,
|
||
Giona F,
|
||
Giuffrida G,
|
||
Linari S,
|
||
Sibilio M,
|
||
Spina V,
|
||
Cappellini MD</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 Nov;107(3):521-5.
|
||
Epub 2012 Aug 17
|
||
doi: 10.1016/j.ymgme.2012.08.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22954583" target="_blank">22954583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21804517">Gaucher disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ali MA,
|
||
Saleh FM,
|
||
Das K,
|
||
Latif T</span><br />
|
||
<span class="medgenPMjournal">Mymensingh Med J</span>
|
||
2011 Jul;20(3):490-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21804517" target="_blank">21804517</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gaucher%20disease%20type%20I%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 (24)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37210484">Neutral theory: applicability and neutrality of clinical study endpoints where a disease-specific instrument is available.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jandhyala R</span><br />
|
||
<span class="medgenPMjournal">BMC Med Res Methodol</span>
|
||
2023 May 20;23(1):121.
|
||
doi: 10.1186/s12874-023-01947-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37210484" target="_blank">37210484</a><a href="/pmc/articles/PMC10199426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34802413">Ambroxol Chaperone Therapy for Gaucher Disease Type I-Associated Liver Cirrhosis and Portal Hypertension: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang P,
|
||
Zheng MF,
|
||
Cui SY,
|
||
Zhang W,
|
||
Gao RP</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2022;22(6):658-662.
|
||
doi: 10.2174/1871530321666211119145230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34802413" target="_blank">34802413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29418074">Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gras-Colomer E,
|
||
Martínez-Gómez MA,
|
||
Climente-Martí M,
|
||
Fernandez-Zarzoso M,
|
||
Almela-Tejedo M,
|
||
Giner-Galvañ V,
|
||
Marcos-Rodríguez JA,
|
||
Rodríguez-Fernández A,
|
||
Torralba-Cabeza MÁ,
|
||
Merino-Sanjuan M</span><br />
|
||
<span class="medgenPMjournal">Basic Clin Pharmacol Toxicol</span>
|
||
2018 Jul;123(1):65-71.
|
||
Epub 2018 Mar 30
|
||
doi: 10.1111/bcpt.12977.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29418074" target="_blank">29418074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26674302">Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Utz J,
|
||
Whitley CB,
|
||
van Giersbergen PL,
|
||
Kolb SA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2016 Feb;117(2):172-8.
|
||
Epub 2015 Dec 2
|
||
doi: 10.1016/j.ymgme.2015.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26674302" target="_blank">26674302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22954583">Minimal disease activity in Gaucher disease: criteria for definition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Rocco M,
|
||
Andria G,
|
||
Bembi B,
|
||
Carubbi F,
|
||
Giona F,
|
||
Giuffrida G,
|
||
Linari S,
|
||
Sibilio M,
|
||
Spina V,
|
||
Cappellini MD</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 Nov;107(3):521-5.
|
||
Epub 2012 Aug 17
|
||
doi: 10.1016/j.ymgme.2012.08.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22954583" target="_blank">22954583</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gaucher%20disease%20type%20I%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 (19)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35956356">Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iaccarino Idelson P,
|
||
Speranza E,
|
||
Marra M,
|
||
Pasanisi F,
|
||
Sammarco R,
|
||
Galletti F,
|
||
Strazzullo P,
|
||
Barbato A</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2022 Aug 3;14(15)
|
||
doi: 10.3390/nu14153180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35956356" target="_blank">35956356</a><a href="/pmc/articles/PMC9370155" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29418074">Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gras-Colomer E,
|
||
Martínez-Gómez MA,
|
||
Climente-Martí M,
|
||
Fernandez-Zarzoso M,
|
||
Almela-Tejedo M,
|
||
Giner-Galvañ V,
|
||
Marcos-Rodríguez JA,
|
||
Rodríguez-Fernández A,
|
||
Torralba-Cabeza MÁ,
|
||
Merino-Sanjuan M</span><br />
|
||
<span class="medgenPMjournal">Basic Clin Pharmacol Toxicol</span>
|
||
2018 Jul;123(1):65-71.
|
||
Epub 2018 Mar 30
|
||
doi: 10.1111/bcpt.12977.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29418074" target="_blank">29418074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18274746">Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Fost M,
|
||
Out TA,
|
||
de Wilde FA,
|
||
Tjin EP,
|
||
Pals ST,
|
||
van Oers MH,
|
||
Boot RG,
|
||
Aerts JF,
|
||
Maas M,
|
||
Vom Dahl S,
|
||
Hollak CE</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2008 Jun;87(6):439-49.
|
||
Epub 2008 Feb 15
|
||
doi: 10.1007/s00277-008-0441-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18274746" target="_blank">18274746</a><a href="/pmc/articles/PMC2324130" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17703370">Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grigorescu Sido P,
|
||
Drugan C,
|
||
Cret V,
|
||
Al-Kzouz C,
|
||
Denes C,
|
||
Coldea C,
|
||
Zimmermann A</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2007 Oct;30(5):783-9.
|
||
Epub 2007 Aug 20
|
||
doi: 10.1007/s10545-007-0621-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17703370" target="_blank">17703370</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8503443">Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sibille A,
|
||
Eng CM,
|
||
Kim SJ,
|
||
Pastores G,
|
||
Grabowski GA</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1993 Jun;52(6):1094-101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8503443" target="_blank">8503443</a><a href="/pmc/articles/PMC1682271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gaucher%20disease%20type%20I%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37210484">Neutral theory: applicability and neutrality of clinical study endpoints where a disease-specific instrument is available.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jandhyala R</span><br />
|
||
<span class="medgenPMjournal">BMC Med Res Methodol</span>
|
||
2023 May 20;23(1):121.
|
||
doi: 10.1186/s12874-023-01947-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37210484" target="_blank">37210484</a><a href="/pmc/articles/PMC10199426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35956356">Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iaccarino Idelson P,
|
||
Speranza E,
|
||
Marra M,
|
||
Pasanisi F,
|
||
Sammarco R,
|
||
Galletti F,
|
||
Strazzullo P,
|
||
Barbato A</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2022 Aug 3;14(15)
|
||
doi: 10.3390/nu14153180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35956356" target="_blank">35956356</a><a href="/pmc/articles/PMC9370155" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29418074">Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gras-Colomer E,
|
||
Martínez-Gómez MA,
|
||
Climente-Martí M,
|
||
Fernandez-Zarzoso M,
|
||
Almela-Tejedo M,
|
||
Giner-Galvañ V,
|
||
Marcos-Rodríguez JA,
|
||
Rodríguez-Fernández A,
|
||
Torralba-Cabeza MÁ,
|
||
Merino-Sanjuan M</span><br />
|
||
<span class="medgenPMjournal">Basic Clin Pharmacol Toxicol</span>
|
||
2018 Jul;123(1):65-71.
|
||
Epub 2018 Mar 30
|
||
doi: 10.1111/bcpt.12977.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29418074" target="_blank">29418074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20683713">Vertebral fractures in Gaucher disease type I: data from the French "Observatoire" on Gaucher disease (FROG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Javier RM,
|
||
Hachulla E,
|
||
Rose C,
|
||
Gressin V,
|
||
Chérin P,
|
||
Noël E,
|
||
de Roux-Serratrice C,
|
||
Dobbelaere D,
|
||
Hartmann A,
|
||
Jaussaud R,
|
||
Clerson P,
|
||
Grosbois B,
|
||
Roux C</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2011 Apr;22(4):1255-61.
|
||
Epub 2010 Aug 4
|
||
doi: 10.1007/s00198-010-1342-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20683713" target="_blank">20683713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8503443">Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sibille A,
|
||
Eng CM,
|
||
Kim SJ,
|
||
Pastores G,
|
||
Grabowski GA</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1993 Jun;52(6):1094-101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8503443" target="_blank">8503443</a><a href="/pmc/articles/PMC1682271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gaucher%20disease%20type%20I%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 (14)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37210484">Neutral theory: applicability and neutrality of clinical study endpoints where a disease-specific instrument is available.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jandhyala R</span><br />
|
||
<span class="medgenPMjournal">BMC Med Res Methodol</span>
|
||
2023 May 20;23(1):121.
|
||
doi: 10.1186/s12874-023-01947-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37210484" target="_blank">37210484</a><a href="/pmc/articles/PMC10199426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gaucher%20disease%20type%20I%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<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>
|
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</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=C1961835%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (44)</a></li>
|
||
<li><a href="/gtr/tests?term=C1961835%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1961835%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1961835%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C1961835%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (50)</a></li>
|
||
<li><a href="/gtr/tests?term=C1961835%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (15)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1961835%5bDISCUI%5d" target="_blank">See all (64)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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&start=1&limit=10&sort=score%20desc&field=number&search=230800" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=77259" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Gaucher%20disease%20type%20I" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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=(%22gaucher%20disease%20type%20i%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></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Gaucher.pdf">ACMG ACT, 2022</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased ß-glucocerebrosidase, Gaucher disease, 2022</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Gaucher-Algorithm.pdf">ACMG Algorithm, 2022</a><div>American College of Medical Genetics and Genomics, Algorithm, Gaucher Disease; Decreased beta-glucocerebrosidase activity, 2022</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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&start=1&limit=10&sort=score%20desc&field=number&search=606463" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2629[geneid]" target="_blank">View GBA1 variations in ClinVar</a></li><li><a href="/nuccore/223717990" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=230800" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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/Gaucher+Disease+Type+1/3002" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/gaucher_disease_type_i" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Gaucher%20disease%20type%20I" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/gaucher-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2441/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301446" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Gaucher%20disease%20type%20I" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Gaucher%20disease%20type%20I%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=409531" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=409531" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1961835[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1961835[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=409531" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=409531" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=409531" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=409531" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=409531" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=409531" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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