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<meta name="keywords" content="C3179455, disease or syndrome, neurovisceral storage disease with vertical supranuclear ophthalmoplegia, niemann pick disease, subacute juvenile form, niemann pick disease, type c1, niemann-pick disease type c1, niemann-pick disease with cholesterol esterification block, niemann-pick disease without sphingomyelinase deficiency, niemann-pick disease, chronic neuronopathic form, niemann-pick disease, nova scotian type, niemann-pick disease, subacute juvenile form, niemann-pick disease, type c, niemann-pick disease, type c1, niemann-pick disease, type d, niemann-pick disease, variant type c1, npc1, type c1 niemann-pick 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="Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Niemann-Pick disease, type C1 (Concept Id: C3179455)
- MedGen - NCBI</title>
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<!--
UID=465922
ConceptID=C3179455
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Niemann-Pick disease, type C1<span class="h1sub">(NPC1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>465922</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3179455</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>NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA; NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK; NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY; NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM; NIEMANN-PICK DISEASE, VARIANT TYPE C1</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="NPC1 - ID: 4864 - NCBI Gene" href="/gene/4864" class="medgenPMinfo">NPC1</a> (18q11.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0009757" target="_blank">MONDO:0009757</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/257220" target="_blank">257220</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/NBK1296" target="_blank">Niemann-Pick Disease Type C</a></div><div>Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs. [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/NBK1296#npc.Summary" target="NBK1296">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1296#npc.Diagnosis" target="NBK1296">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1296#npc.Clinical_Characteristics" target="NBK1296">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1296#npc.Genetically_Related_Allelic_Disorder" target="NBK1296">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1296#npc.Differential_Diagnosis" target="NBK1296">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1296#npc.Management" target="NBK1296">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1296#npc.Genetic_Counseling" target="NBK1296">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1296#npc.Resources" target="NBK1296">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1296#npc.Molecular_Genetics" target="NBK1296">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1296#npc.Chapter_Notes" target="NBK1296">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1296#npc.References" target="NBK1296">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Marc Patterson   <a href="/books/NBK1296" target="NBK1296" title="NCBI Bookshelf: Niemann-Pick Disease Type C">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_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 usually become apparent in childhood, although signs and symptoms can develop at any time. People with these types usually develop difficulty coordinating movements (ataxia), an inability to move the eyes vertically (vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals with Niemann-Pick disease types C1 and C2 have problems with speech and swallowing that worsen over time, eventually interfering with feeding. Affected individuals often experience progressive decline in intellectual function and about one-third have seizures. People with these types may survive into adulthood.<br /><br />Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.<br /><br />Niemann-Pick disease type B usually presents in mid-childhood. The signs and symptoms of this type are similar to type A, but not as severe. People with Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung infections, and a low number of platelets in the blood (thrombocytopenia). They also have short stature and slowed mineralization of bone (delayed bone age). About one-third of affected individuals have the cherry-red spot eye abnormality or neurological impairment. People with Niemann-Pick disease type B usually survive into adulthood.<br /><br />Infants with Niemann-Pick disease type A usually develop an enlarged liver and spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at the expected rate (failure to thrive). The affected children develop normally until around age 1 year when they experience a progressive loss of mental abilities and movement (psychomotor regression). Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung disease) that can cause recurrent lung infections and eventually lead to respiratory failure. All affected children have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Children with Niemann-Pick disease type A generally do not survive past early childhood.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/niemann-pick-disease">https://medlineplus.gov/genetics/condition/niemann-pick-disease</a></div></div>
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<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_924121"><div><strong>Foam cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924121</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4281786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/924121">Feature record</a> | <a href="/medgen?term=%22Foam%20cells%22%5BClinical%20Features%5D%20OR%20924121%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1813072"><div><strong>CNS foam cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1813072</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5558248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1813072">Feature record</a> | <a href="/medgen?term=%22CNS%20foam%20cells%22%5BClinical%20Features%5D%20OR%201813072%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Difficulty in swallowing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%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)&#10;Click for more information.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<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_347108"><div><strong>Prolonged neonatal jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347108</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1859236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347108">Feature record</a> | <a href="/medgen?term=%22Prolonged%20neonatal%20jaundice%22%5BClinical%20Features%5D%20OR%20347108%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870569"><div><strong>Fatal liver failure in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870569</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4025017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870569">Feature record</a> | <a href="/medgen?term=%22Fatal%20liver%20failure%20in%20infancy%22%5BClinical%20Features%5D%20OR%20870569%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2862"><div><strong>Cataplexy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2862</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0007384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2862">Feature record</a> | <a href="/medgen?term=%22Cataplexy%22%5BClinical%20Features%5D%20OR%202862%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19568"><div><strong>Psychotic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19568</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0033975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19568">Feature record</a> | <a href="/medgen?term=%22Psychotic%20disorder%22%5BClinical%20Features%5D%20OR%2019568%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39273"><div><strong>Neurofibrillary tangles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39273</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0085400</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39273">Feature record</a> | <a href="/medgen?term=%22Neurofibrillary%20tangles%22%5BClinical%20Features%5D%20OR%2039273%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107445"><div><strong>Loss of speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107445</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0542223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107445">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20speech%22%5BClinical%20Features%5D%20OR%20107445%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_155642"><div><strong>Gait ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155642</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0751837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155642">Feature record</a> | <a href="/medgen?term=%22Gait%20ataxia%22%5BClinical%20Features%5D%20OR%20155642%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_342515"><div><strong>Neuronal loss in central nervous system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342515</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1850496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342515">Feature record</a> | <a href="/medgen?term=%22Neuronal%20loss%20in%20central%20nervous%20system%22%5BClinical%20Features%5D%20OR%20342515%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19908"><div><strong>Sea-blue histiocyte syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19908</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0036489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19908">Feature record</a> | <a href="/medgen?term=%22Sea-blue%20histiocyte%20syndrome%22%5BClinical%20Features%5D%20OR%2019908%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)&#10;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_383940"><div><strong>Bone-marrow foam cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383940</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1856560</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383940">Feature record</a> | <a href="/medgen?term=%22Bone-marrow%20foam%20cells%22%5BClinical%20Features%5D%20OR%20383940%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_335943"><div><strong>Low cholesterol esterification rate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335943</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1843371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A reduction in the rate of cholesterol esterification.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335943">Feature record</a> | <a href="/medgen?term=%22Low%20cholesterol%20esterification%20rate%22%5BClinical%20Features%5D%20OR%20335943%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_226930"><div><strong>Fetal ascites</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226930</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1285291</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Accumulation of fluid in the peritoneal cavity during the fetal period.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/226930">Feature record</a> | <a href="/medgen?term=%22Fetal%20ascites%22%5BClinical%20Features%5D%20OR%20226930%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_334385"><div><strong>Vertical supranuclear gaze palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334385</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1843369</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334385">Feature record</a> | <a href="/medgen?term=%22Vertical%20supranuclear%20gaze%20palsy%22%5BClinical%20Features%5D%20OR%20334385%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1864260"><div><strong>Unesterified cholesterol accumulation in cultured fibroblasts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864260</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5937001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal result of the the filipin test. In this test is based on the reaction of unesterified cholesterol with fluorescent antibiotic filipin giving a strongly fluorescent, stable cholesterol-filipin complex suitable for in situ detection. An abnormal test result is present if there is a perinuclear accumulation of staining in lysosomal storage organelles (LSOs).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1864260">Feature record</a> | <a href="/medgen?term=%22Unesterified%20cholesterol%20accumulation%20in%20cultured%20fibroblasts%22%5BClinical%20Features%5D%20OR%201864260%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1864260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unesterified cholesterol accumulation in cultured fibroblasts</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low cholesterol esterification rate</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_226930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal ascites</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_1813072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CNS foam cells</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_924121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Foam cells</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_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatal liver failure in infancy</a></span></li><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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged neonatal jaundice</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_334385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertical supranuclear gaze palsy</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_383940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone-marrow foam cells</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19908" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sea-blue histiocyte syndrome</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 musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataplexy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait ataxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of speech</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibrillary tangles</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal loss in central nervous system</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Psychotic disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0028064[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=10348">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/NBK1370/" ref="ncbi_uid=10348">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=10348" ref="ncbi_uid=10348">V</a></span></span><span class="TLline"><a href="/medgen/10348" ref="tree=GTR&amp;ncbi_uid=10348&amp;link_uid=10348" title="View MedGen record for 'Sphingomyelin/cholesterol lipidosis'">Sphingomyelin/cholesterol lipidosis</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=C5243927[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1800807">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C5243927[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=1800807">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=1800807">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1800807" ref="ncbi_uid=1800807">V</a></span></span><span class="TLline"><a href="/medgen/1800807" ref="tree=GTR&amp;ncbi_uid=1800807&amp;link_uid=1800807" title="View MedGen record for 'Acid sphingomyelinase deficiency'">Acid sphingomyelinase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet 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/1842316" ref="tree=GTR&amp;ncbi_uid=1842316&amp;link_uid=1842316" title="View MedGen record for 'Chronic neurovisceral acid sphingomyelinase deficiency'">Chronic neurovisceral acid sphingomyelinase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82781" target="_blank" href="/omim/607616">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/82781" ref="tree=GTR&amp;ncbi_uid=82781&amp;link_uid=82781" title="View MedGen record for 'Niemann-Pick disease type E'">Niemann-Pick disease type E</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]&amp;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&amp;from_uid=78650" ref="ncbi_uid=78650">V</a></span></span><span class="TLline"><a href="/medgen/78650" ref="tree=GTR&amp;ncbi_uid=78650&amp;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=C0268243[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=78651">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78651" target="_blank" href="/omim/607608">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=78651">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=78651" ref="ncbi_uid=78651">V</a></span></span><span class="TLline"><a href="/medgen/78651" ref="tree=GTR&amp;ncbi_uid=78651&amp;link_uid=78651" title="View MedGen record for 'Niemann-Pick disease, type B'">Niemann-Pick disease, type B</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=C0220756[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=67399">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0220756[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=67399">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=67399" target="_blank" href="/omim/257220">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1296/" ref="ncbi_uid=67399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=67399" ref="ncbi_uid=67399">V</a></span></span><span class="TLline"><a href="/medgen/67399" ref="tree=GTR&amp;ncbi_uid=67399&amp;link_uid=67399" title="View MedGen record for 'Niemann-Pick disease, type C'">Niemann-Pick disease, type C</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet 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/1826101" ref="tree=GTR&amp;ncbi_uid=1826101&amp;link_uid=1826101" title="View MedGen record for 'Niemann-Pick disease type C, adult neurologic onset'">Niemann-Pick disease type C, adult neurologic onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet 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/1842257" ref="tree=GTR&amp;ncbi_uid=1842257&amp;link_uid=1842257" title="View MedGen record for 'Niemann-Pick disease type C, juvenile neurologic onset'">Niemann-Pick disease type C, juvenile neurologic onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet 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/1843353" ref="tree=GTR&amp;ncbi_uid=1843353&amp;link_uid=1843353" title="View MedGen record for 'Niemann-Pick disease type C, late infantile neurologic onset'">Niemann-Pick disease type C, late infantile neurologic onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet 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/1842400" ref="tree=GTR&amp;ncbi_uid=1842400&amp;link_uid=1842400" title="View MedGen record for 'Niemann-Pick disease type C, severe early infantile neurologic onset'">Niemann-Pick disease type C, severe early infantile neurologic onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet 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/1842349" ref="tree=GTR&amp;ncbi_uid=1842349&amp;link_uid=1842349" title="View MedGen record for 'Niemann-Pick disease type C, severe perinatal form'">Niemann-Pick disease type C, severe perinatal form</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=C3179455[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=465922">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=465922" target="_blank" href="/omim/257220">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1296/" ref="ncbi_uid=465922">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=465922" ref="ncbi_uid=465922">V</a></span></span><span class="TLline">Niemann-Pick disease, type C1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843366[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=335942">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335942" target="_blank" href="/omim/601015">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1296/" ref="ncbi_uid=335942">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=335942" ref="ncbi_uid=335942">V</a></span></span><span class="TLline"><a href="/medgen/335942" ref="tree=GTR&amp;ncbi_uid=335942&amp;link_uid=335942" title="View MedGen record for 'Niemann-Pick disease, type C2'">Niemann-Pick disease, type C2</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1825994" ref="tree=MeSH" title="MedGen record for Cerebral lipidosis with dementia">Cerebral lipidosis with dementia</a></span><ul><li><span class="TLline"><a href="/medgen/67399" ref="tree=MeSH" title="MedGen record for Niemann-Pick disease, type C">Niemann-Pick disease, type C</a></span><ul><li><span class="matched_ds">Niemann-Pick disease, type C1</span></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/38131230">Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liang H,
Zhan X,
Wang Y,
Maegawa GHB,
Zhang H</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2024 Mar;47(2):317-326.
Epub 2023 Dec 22
doi: 10.1002/jimd.12705.
<span class="bold">PMID: </span><a href="/pubmed/38131230" target="_blank">38131230</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36125338">mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Furtado D,
Cortez-Jugo C,
Hung YH,
Bush AI,
Caruso F</span><br />
<span class="medgenPMjournal">Mol Pharm</span>
2022 Nov 7;19(11):3987-3999.
Epub 2022 Sep 20
doi: 10.1021/acs.molpharmaceut.2c00463.
<span class="bold">PMID: </span><a href="/pubmed/36125338" target="_blank">36125338</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24283970">Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ottinger EA,
Kao ML,
Carrillo-Carrasco N,
Yanjanin N,
Shankar RK,
Janssen M,
Brewster M,
Scott I,
Xu X,
Cradock J,
Terse P,
Dehdashti SJ,
Marugan J,
Zheng W,
Portilla L,
Hubbs A,
Pavan WJ,
Heiss J,
Vite CH,
Walkley SU,
Ory DS,
Silber SA,
Porter FD,
Austin CP,
McKew JC</span><br />
<span class="medgenPMjournal">Curr Top Med Chem</span>
2014;14(3):330-9.
doi: 10.2174/1568026613666131127160118.
<span class="bold">PMID: </span><a href="/pubmed/24283970" target="_blank">24283970</a><a href="/pmc/articles/PMC4048128" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22niemann-pick%20disease%2C%20type%20c1%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 (9)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/38863022">Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Solomon BI,
Muñoz AM,
Sinaii N,
Mohamed H,
Farhat NM,
Alexander D,
Do AD,
Porter FD</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2024 Jun 11;19(1):231.
doi: 10.1186/s13023-024-03241-7.
<span class="bold">PMID: </span><a href="/pubmed/38863022" target="_blank">38863022</a><a href="/pmc/articles/PMC11165794" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36064725">Phenotypic expression of swallowing function in Niemann-Pick disease type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Solomon BI,
Muñoz AM,
Sinaii N,
Farhat NM,
Smith AC,
Bianconi S,
Dang Do A,
Backman MC,
Machielse L,
Porter FD</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2022 Sep 5;17(1):342.
doi: 10.1186/s13023-022-02472-w.
<span class="bold">PMID: </span><a href="/pubmed/36064725" target="_blank">36064725</a><a href="/pmc/articles/PMC9446530" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34845147">Pharmacotherapy of cerebellar and vestibular disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lemos J,
Manto M</span><br />
<span class="medgenPMjournal">Curr Opin Neurol</span>
2022 Feb 1;35(1):118-125.
doi: 10.1097/WCO.0000000000001015.
<span class="bold">PMID: </span><a href="/pubmed/34845147" target="_blank">34845147</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31500175">Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann-Pick Disease Type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bräuer AU,
Kuhla A,
Holzmann C,
Wree A,
Witt M</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2019 Sep 6;20(18)
doi: 10.3390/ijms20184392.
<span class="bold">PMID: </span><a href="/pubmed/31500175" target="_blank">31500175</a><a href="/pmc/articles/PMC6771135" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29246094">Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sansare A,
Zampieri C,
Alter K,
Stanley C,
Farhat N,
Keener LA,
Porter F</span><br />
<span class="medgenPMjournal">J Child Neurol</span>
2018 Jan;33(1):114-124.
doi: 10.1177/0883073817741054.
<span class="bold">PMID: </span><a href="/pubmed/29246094" target="_blank">29246094</a><a href="/pmc/articles/PMC6534353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Niemann-Pick%20disease%2C%20type%20C1%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 (28)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38863022">Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Solomon BI,
Muñoz AM,
Sinaii N,
Mohamed H,
Farhat NM,
Alexander D,
Do AD,
Porter FD</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2024 Jun 11;19(1):231.
doi: 10.1186/s13023-024-03241-7.
<span class="bold">PMID: </span><a href="/pubmed/38863022" target="_blank">38863022</a><a href="/pmc/articles/PMC11165794" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38445816">Spatial neurolipidomics-MALDI mass spectrometry imaging of lipids in brain pathologies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jha D,
Blennow K,
Zetterberg H,
Savas JN,
Hanrieder J</span><br />
<span class="medgenPMjournal">J Mass Spectrom</span>
2024 Mar;59(3):e5008.
doi: 10.1002/jms.5008.
<span class="bold">PMID: </span><a href="/pubmed/38445816" target="_blank">38445816</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34845147">Pharmacotherapy of cerebellar and vestibular disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lemos J,
Manto M</span><br />
<span class="medgenPMjournal">Curr Opin Neurol</span>
2022 Feb 1;35(1):118-125.
doi: 10.1097/WCO.0000000000001015.
<span class="bold">PMID: </span><a href="/pubmed/34845147" target="_blank">34845147</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33257258">Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sidhu R,
Kell P,
Dietzen DJ,
Farhat NY,
Do AND,
Porter FD,
Berry-Kravis E,
Reunert J,
Marquardt T,
Giugliani R,
Lourenço CM,
Wang RY,
Movsesyan N,
Plummer E,
Schaffer JE,
Ory DS,
Jiang X</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2020 Dec;131(4):405-417.
Epub 2020 Nov 18
doi: 10.1016/j.ymgme.2020.11.005.
<span class="bold">PMID: </span><a href="/pubmed/33257258" target="_blank">33257258</a><a href="/pmc/articles/PMC8139135" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31500175">Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann-Pick Disease Type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bräuer AU,
Kuhla A,
Holzmann C,
Wree A,
Witt M</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2019 Sep 6;20(18)
doi: 10.3390/ijms20184392.
<span class="bold">PMID: </span><a href="/pubmed/31500175" target="_blank">31500175</a><a href="/pmc/articles/PMC6771135" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Niemann-Pick%20disease%2C%20type%20C1%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 (31)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38673803">Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Farhat NY,
Alexander D,
McKee K,
Iben J,
Rodriguez-Gil JL,
Wassif CA,
Cawley NX,
Balch WE,
Porter FD</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2024 Apr 11;25(8)
doi: 10.3390/ijms25084217.
<span class="bold">PMID: </span><a href="/pubmed/38673803" target="_blank">38673803</a><a href="/pmc/articles/PMC11050712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34845147">Pharmacotherapy of cerebellar and vestibular disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lemos J,
Manto M</span><br />
<span class="medgenPMjournal">Curr Opin Neurol</span>
2022 Feb 1;35(1):118-125.
doi: 10.1097/WCO.0000000000001015.
<span class="bold">PMID: </span><a href="/pubmed/34845147" target="_blank">34845147</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29246094">Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sansare A,
Zampieri C,
Alter K,
Stanley C,
Farhat N,
Keener LA,
Porter F</span><br />
<span class="medgenPMjournal">J Child Neurol</span>
2018 Jan;33(1):114-124.
doi: 10.1177/0883073817741054.
<span class="bold">PMID: </span><a href="/pubmed/29246094" target="_blank">29246094</a><a href="/pmc/articles/PMC6534353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29065825">2-Hydroxypropyl-β-cyclodextrins and the Blood-Brain Barrier: Considerations for Niemann-Pick Disease Type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Calias P</span><br />
<span class="medgenPMjournal">Curr Pharm Des</span>
2017;23(40):6231-6238.
doi: 10.2174/1381612823666171019164220.
<span class="bold">PMID: </span><a href="/pubmed/29065825" target="_blank">29065825</a><a href="/pmc/articles/PMC5824462" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24283970">Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ottinger EA,
Kao ML,
Carrillo-Carrasco N,
Yanjanin N,
Shankar RK,
Janssen M,
Brewster M,
Scott I,
Xu X,
Cradock J,
Terse P,
Dehdashti SJ,
Marugan J,
Zheng W,
Portilla L,
Hubbs A,
Pavan WJ,
Heiss J,
Vite CH,
Walkley SU,
Ory DS,
Silber SA,
Porter FD,
Austin CP,
McKew JC</span><br />
<span class="medgenPMjournal">Curr Top Med Chem</span>
2014;14(3):330-9.
doi: 10.2174/1568026613666131127160118.
<span class="bold">PMID: </span><a href="/pubmed/24283970" target="_blank">24283970</a><a href="/pmc/articles/PMC4048128" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Niemann-Pick%20disease%2C%20type%20C1%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 (32)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38698279">Upregulation of NPC1 and its association with poor prognosis in gastric cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tang W,
Huang J,
Li G,
Zhou Z,
Wang Z</span><br />
<span class="medgenPMjournal">Clin Transl Oncol</span>
2024 Oct;26(10):2665-2673.
Epub 2024 May 2
doi: 10.1007/s12094-024-03490-9.
<span class="bold">PMID: </span><a href="/pubmed/38698279" target="_blank">38698279</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38131230">Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liang H,
Zhan X,
Wang Y,
Maegawa GHB,
Zhang H</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2024 Mar;47(2):317-326.
Epub 2023 Dec 22
doi: 10.1002/jimd.12705.
<span class="bold">PMID: </span><a href="/pubmed/38131230" target="_blank">38131230</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35452076">Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann-Pick disease, type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yerger J,
Cougnoux AC,
Abbott CB,
Luke R,
Clark TS,
Cawley NX,
Porter FD,
Davidson CD</span><br />
<span class="medgenPMjournal">Biol Open</span>
2022 Apr 15;11(4)
Epub 2022 May 3
doi: 10.1242/bio.059052.
<span class="bold">PMID: </span><a href="/pubmed/35452076" target="_blank">35452076</a><a href="/pmc/articles/PMC9096702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35140266">Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baxter LL,
Watkins-Chow DE,
Johnson NL,
Farhat NY,
Platt FM,
Dale RK,
Porter FD,
Pavan WJ,
Rodriguez-Gil JL</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2022 Feb 9;12(1):2162.
doi: 10.1038/s41598-022-06112-y.
<span class="bold">PMID: </span><a href="/pubmed/35140266" target="_blank">35140266</a><a href="/pmc/articles/PMC8828765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22619379">Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cluzeau CV,
Watkins-Chow DE,
Fu R,
Borate B,
Yanjanin N,
Dail MK,
Davidson CD,
Walkley SU,
Ory DS,
Wassif CA,
Pavan WJ,
Porter FD</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
2012 Aug 15;21(16):3632-46.
Epub 2012 May 22
doi: 10.1093/hmg/dds193.
<span class="bold">PMID: </span><a href="/pubmed/22619379" target="_blank">22619379</a><a href="/pmc/articles/PMC3406758" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Niemann-Pick%20disease%2C%20type%20C1%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38673803">Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Farhat NY,
Alexander D,
McKee K,
Iben J,
Rodriguez-Gil JL,
Wassif CA,
Cawley NX,
Balch WE,
Porter FD</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2024 Apr 11;25(8)
doi: 10.3390/ijms25084217.
<span class="bold">PMID: </span><a href="/pubmed/38673803" target="_blank">38673803</a><a href="/pmc/articles/PMC11050712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36470574">Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Agrawal N,
Farhat NY,
Sinaii N,
Do AD,
Xiao C,
Berry-Kravis E,
Bianconi S,
Masvekar R,
Bielekova B,
Solomon B,
Porter FD</span><br />
<span class="medgenPMjournal">Genet Med</span>
2023 Mar;25(3):100349.
Epub 2022 Dec 5
doi: 10.1016/j.gim.2022.11.017.
<span class="bold">PMID: </span><a href="/pubmed/36470574" target="_blank">36470574</a><a href="/pmc/articles/PMC9992339" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36125338">mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Furtado D,
Cortez-Jugo C,
Hung YH,
Bush AI,
Caruso F</span><br />
<span class="medgenPMjournal">Mol Pharm</span>
2022 Nov 7;19(11):3987-3999.
Epub 2022 Sep 20
doi: 10.1021/acs.molpharmaceut.2c00463.
<span class="bold">PMID: </span><a href="/pubmed/36125338" target="_blank">36125338</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34845147">Pharmacotherapy of cerebellar and vestibular disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lemos J,
Manto M</span><br />
<span class="medgenPMjournal">Curr Opin Neurol</span>
2022 Feb 1;35(1):118-125.
doi: 10.1097/WCO.0000000000001015.
<span class="bold">PMID: </span><a href="/pubmed/34845147" target="_blank">34845147</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32222928">Retinal axonal degeneration in Niemann-Pick type C disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Havla J,
Moser M,
Sztatecsny C,
Lotz-Havla AS,
Maier EM,
Hizli B,
Schinner R,
Kümpfel T,
Strupp M,
Bremova-Ertl T,
Schneider SA</span><br />
<span class="medgenPMjournal">J Neurol</span>
2020 Jul;267(7):2070-2082.
Epub 2020 Mar 28
doi: 10.1007/s00415-020-09796-2.
<span class="bold">PMID: </span><a href="/pubmed/32222928" target="_blank">32222928</a><a href="/pmc/articles/PMC7320959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Niemann-Pick%20disease%2C%20type%20C1%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 (44)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3179455%5bDISCUI%5d&amp;filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
<li><a href="/gtr/tests?term=C3179455%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (59)</a></li>
<li><a href="/gtr/tests?term=C3179455%5bDISCUI%5d&amp;filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
<li><a href="/gtr/tests?term=C3179455%5bDISCUI%5d&amp;filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
<li><a href="/gtr/tests?term=C3179455%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C3179455%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C3179455%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (10)</a></li>
<li><a href="/gtr/tests?term=C3179455%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (76)</a></li>
<li><a href="/gtr/tests?term=C3179455%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (22)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3179455%5bDISCUI%5d" target="_blank">See all (92)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22niemann-pick%20disease%2C%20type%20c1%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></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Niemann-Pick+disease+type+C1/5223" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/niemann_pick_disease_type_c1_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Niemann-Pick%20disease,%20type%20C1" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/niemann-pick-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7207/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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