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<meta name="keywords" content="C1853833, autosomal recessive early-onset parkinson disease 6, autosomal recessive early-onset parkinson disease type 6, autosomal recessive early-onset parkinson's disease 6, disease or syndrome, early-onset parkinson disease 6, park6, parkinson disease 6, autosomal recessive early-onset, parkinson disease 6, early onset, parkinson disease 6, early-onset, parkinson disease 6, late-onset, susceptibility to, parkinson disease 6, modifier of, parkinson disease caused by mutation in pink1, parkinson disease, autosomal recessive early-onset, digenic, pink1-dj1, parkinson disease, autosomal recessive early-onset, digenic, pink1/dj1, pink1, pink1 parkinson disease, pink1 type of young-onset parkinson disease, pink1-related parkinson 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="PINK1 type of young-onset Parkinson disease is characterized by early onset (median age at onset 32 years) of tremor, bradykinesia, and rigidity that are often indistinguishable from other causes of Parkinson disease. Lower-limb dystonia may be a presenting sign. Postural instability, hyperreflexia, abnormal behavior, and psychiatric manifestations have been described. The disease is usually slowly progressive. Individuals have a marked and sustained response to oral administration of levodopa (L-dopa), frequently associated with L-dopa-induced fluctuations and dyskinesias." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Autosomal recessive early-onset Parkinson disease 6 (Concept Id: C1853833)
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<!--
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UID=342982
|
||
ConceptID=C1853833
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal recessive early-onset Parkinson disease 6<span class="h1sub">(PARK6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342982</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1853833</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>PARK6; PARKINSON DISEASE 6, EARLY-ONSET; PARKINSON DISEASE 6, MODIFIER OF; PINK1 Type of Young-Onset Parkinson Disease; PINK1-Related Parkinson Disease</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="PINK1 - ID: 65018 - NCBI Gene" href="/gene/65018" class="medgenPMinfo">PINK1</a> (1p36.12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011613" target="_blank">MONDO:0011613</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/605909" target="_blank">605909</a></td></tr>
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||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">PINK1 type of young-onset Parkinson disease is characterized by early onset (median age at onset 32 years) of tremor, bradykinesia, and rigidity that are often indistinguishable from other causes of Parkinson disease. Lower-limb dystonia may be a presenting sign. Postural instability, hyperreflexia, abnormal behavior, and psychiatric manifestations have been described. The disease is usually slowly progressive. Individuals have a marked and sustained response to oral administration of levodopa (L-dopa), frequently associated with L-dopa-induced fluctuations and dyskinesias. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
|
||
</div>
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||
|
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.<br /><br />Often the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.<br /><br />Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.<br /><br />Generally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease. <a target="_blank" href="https://medlineplus.gov/genetics/condition/parkinsons-disease">https://medlineplus.gov/genetics/condition/parkinsons-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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_39315"><div><strong>Urinary urgency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39315</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.">C0085606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Urge incontinence is the strong, sudden need to urinate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39315">Feature record</a> | <a href="/medgen?term=%22Urinary%20urgency%22%5BClinical%20Features%5D%20OR%2039315%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1613"><div><strong>Anxiety</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613</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.">C0003467</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1613">Feature record</a> | <a href="/medgen?term=%22Anxiety%22%5BClinical%20Features%5D%20OR%201613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</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.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%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) 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_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115925"><div><strong>Bradykinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115925</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.">C0233565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115925">Feature record</a> | <a href="/medgen?term=%22Bradykinesia%22%5BClinical%20Features%5D%20OR%20115925%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_66697"><div><strong>Resting tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66697</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.">C0234379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66697">Feature record</a> | <a href="/medgen?term=%22Resting%20tremor%22%5BClinical%20Features%5D%20OR%2066697%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66079"><div><strong>Parkinsonian disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66079</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.">C0242422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66079">Feature record</a> | <a href="/medgen?term=%22Parkinsonian%20disorder%22%5BClinical%20Features%5D%20OR%2066079%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) 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_334529"><div><strong>Postural instability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334529</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.">C1843921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334529">Feature record</a> | <a href="/medgen?term=%22Postural%20instability%22%5BClinical%20Features%5D%20OR%20334529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7752"><div><strong>Rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7752</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.">C0026837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7752">Feature record</a> | <a href="/medgen?term=%22Rigidity%22%5BClinical%20Features%5D%20OR%207752%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 the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39315" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urinary urgency</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_7752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rigidity</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_1613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anxiety</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bradykinesia</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_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</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_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonian disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postural instability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Resting tremor</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=C0030567[DISCUI]&test_type=Clinical" ref="ncbi_uid=10590">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=10590" target="_blank" href="/omim/516000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=10590">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=10590" ref="ncbi_uid=10590">V</a></span></span><span class="TLline"><a href="/medgen/10590" ref="tree=GTR&ncbi_uid=10590&link_uid=10590" title="View MedGen record for 'Parkinson disease'">Parkinson 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=C1868595[DISCUI]&test_type=Clinical" ref="ncbi_uid=357008">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=357008" target="_blank" href="/omim/163890">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=357008">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=357008" ref="ncbi_uid=357008">V</a></span></span><span class="TLline"><a href="/medgen/357008" ref="tree=GTR&ncbi_uid=357008&link_uid=357008" title="View MedGen record for 'Autosomal dominant Parkinson disease 1'">Autosomal dominant Parkinson disease 1</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=C1854182[DISCUI]&test_type=Clinical" ref="ncbi_uid=381361">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381361" target="_blank" href="/omim/163890">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=381361">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=381361" ref="ncbi_uid=381361">V</a></span></span><span class="TLline"><a href="/medgen/381361" ref="tree=GTR&ncbi_uid=381361&link_uid=381361" title="View MedGen record for 'Autosomal dominant Parkinson disease 4'">Autosomal dominant Parkinson disease 4</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=C1846862[DISCUI]&test_type=Clinical" ref="ncbi_uid=339628">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339628" target="_blank" href="/omim/607060">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1208%20OR%20NBK1223)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=339628">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339628" ref="ncbi_uid=339628">V</a></span></span><span class="TLline"><a href="/medgen/339628" ref="tree=GTR&ncbi_uid=339628&link_uid=339628" title="View MedGen record for 'Autosomal dominant Parkinson disease 8'">Autosomal dominant Parkinson disease 8</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=C1853833[DISCUI]&test_type=Clinical" ref="ncbi_uid=342982">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342982" target="_blank" href="/omim/602533">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK26472)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=342982">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342982" ref="ncbi_uid=342982">V</a></span></span><span class="TLline">Autosomal recessive early-onset Parkinson disease 6</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853445[DISCUI]&test_type=Clinical" ref="ncbi_uid=344049">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344049" target="_blank" href="/omim/602533">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=344049">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344049" ref="ncbi_uid=344049">V</a></span></span><span class="TLline"><a href="/medgen/344049" ref="tree=GTR&ncbi_uid=344049&link_uid=344049" title="View MedGen record for 'Autosomal recessive early-onset Parkinson disease 7'">Autosomal recessive early-onset Parkinson disease 7</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=C1868675[DISCUI]&test_type=Clinical" ref="ncbi_uid=401500">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=401500" target="_blank" href="/omim/600116">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK1478)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=401500">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=401500" ref="ncbi_uid=401500">V</a></span></span><span class="TLline"><a href="/medgen/401500" ref="tree=GTR&ncbi_uid=401500&link_uid=401500" title="View MedGen record for 'Autosomal recessive juvenile Parkinson disease 2'">Autosomal recessive juvenile Parkinson disease 2</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=C2751842[DISCUI]&test_type=Clinical" ref="ncbi_uid=414488">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414488" target="_blank" href="/omim/612953">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=414488">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414488" ref="ncbi_uid=414488">V</a></span></span><span class="TLline"><a href="/medgen/414488" ref="tree=GTR&ncbi_uid=414488&link_uid=414488" title="View MedGen record for 'Autosomal recessive Parkinson disease 14'">Autosomal recessive Parkinson disease 14</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=66768" target="_blank" href="/omim/168100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=66768">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/66768" ref="tree=GTR&ncbi_uid=66768&link_uid=66768" title="View MedGen record for 'Juvenile paralysis agitans of Hunt'">Juvenile paralysis agitans of Hunt</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=C1847640[DISCUI]&test_type=Clinical" ref="ncbi_uid=338281">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338281" target="_blank" href="/omim/606693">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=338281">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338281" ref="ncbi_uid=338281">V</a></span></span><span class="TLline"><a href="/medgen/338281" ref="tree=GTR&ncbi_uid=338281&link_uid=338281" title="View MedGen record for 'Kufor-Rakeb syndrome'">Kufor-Rakeb syndrome</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/830971" ref="tree=GTR&ncbi_uid=830971&link_uid=830971" title="View MedGen record for 'Parkinsonism due to ATP13A2 deficiency'">Parkinsonism due to ATP13A2 deficiency</a></span></li></ul></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=409973" target="_blank" href="/omim/605909">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=409973">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409973" ref="ncbi_uid=409973">V</a></span></span><span class="TLline"><a href="/medgen/409973" ref="tree=GTR&ncbi_uid=409973&link_uid=409973" title="View MedGen record for 'Parkinson disease 6'">Parkinson disease 6</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 Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=1684827">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1684827" ref="ncbi_uid=1684827">V</a></span></span><span class="TLline"><a href="/medgen/1684827" ref="tree=GTR&ncbi_uid=1684827&link_uid=1684827" title="View MedGen record for 'Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1'">Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1</a></span></li></ul></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=339741" target="_blank" href="/omim/606852">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=339741">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/339741" ref="tree=GTR&ncbi_uid=339741&link_uid=339741" title="View MedGen record for 'Parkinson disease 10'">Parkinson disease 10</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=C4083045[DISCUI]&test_type=Clinical" ref="ncbi_uid=896658">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=896658" target="_blank" href="/omim/607688">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=896658">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=896658" ref="ncbi_uid=896658">V</a></span></span><span class="TLline"><a href="/medgen/896658" ref="tree=GTR&ncbi_uid=896658&link_uid=896658" title="View MedGen record for 'Parkinson disease 11, autosomal dominant, susceptibility to'">Parkinson disease 11, autosomal dominant, susceptibility to</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=337173" target="_blank" href="/omim/300557">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=337173">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=337173" ref="ncbi_uid=337173">V</a></span></span><span class="TLline"><a href="/medgen/337173" ref="tree=GTR&ncbi_uid=337173&link_uid=337173" title="View MedGen record for 'Parkinson disease 12'">Parkinson disease 12</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=C1853202[DISCUI]&test_type=Clinical" ref="ncbi_uid=343992">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343992" target="_blank" href="/omim/606441">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=343992">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343992" ref="ncbi_uid=343992">V</a></span></span><span class="TLline"><a href="/medgen/343992" ref="tree=GTR&ncbi_uid=343992&link_uid=343992" title="View MedGen record for 'Parkinson disease 13, autosomal dominant, susceptibility to'">Parkinson disease 13, autosomal dominant, susceptibility to</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=442620" target="_blank" href="/omim/613164">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=442620">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/442620" ref="tree=GTR&ncbi_uid=442620&link_uid=442620" title="View MedGen record for 'Parkinson disease 16'">Parkinson disease 16</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=C3280133[DISCUI]&test_type=Clinical" ref="ncbi_uid=481763">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481763" target="_blank" href="/omim/601501">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK447258)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=481763">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481763" ref="ncbi_uid=481763">V</a></span></span><span class="TLline"><a href="/medgen/481763" ref="tree=GTR&ncbi_uid=481763&link_uid=481763" title="View MedGen record for 'Parkinson disease 17'">Parkinson disease 17</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=355499" target="_blank" href="/omim/602404">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=355499">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355499" ref="tree=GTR&ncbi_uid=355499&link_uid=355499" title="View MedGen record for 'Parkinson disease 3, autosomal dominant'">Parkinson disease 3, autosomal dominant</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=C3150899[DISCUI]&test_type=Clinical" ref="ncbi_uid=462249">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462249" target="_blank" href="/omim/191342">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=462249">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462249" ref="ncbi_uid=462249">V</a></span></span><span class="TLline"><a href="/medgen/462249" ref="tree=GTR&ncbi_uid=462249&link_uid=462249" title="View MedGen record for 'Parkinson disease 5, autosomal dominant, susceptibility to'">Parkinson disease 5, autosomal dominant, susceptibility to</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=C3160718[DISCUI]&test_type=Clinical" ref="ncbi_uid=463618">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463618" target="_blank" href="/omim/168600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK1269)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=463618">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463618" ref="ncbi_uid=463618">V</a></span></span><span class="TLline"><a href="/medgen/463618" ref="tree=GTR&ncbi_uid=463618&link_uid=463618" title="View MedGen record for 'Parkinson disease, late-onset'">Parkinson disease, late-onset</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=C1838867[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=333199">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333199" target="_blank" href="/omim/556500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=333199">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333199" ref="ncbi_uid=333199">V</a></span></span><span class="TLline"><a href="/medgen/333199" ref="tree=GTR&ncbi_uid=333199&link_uid=333199" title="View MedGen record for 'Parkinson disease, mitochondrial'">Parkinson disease, mitochondrial</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=C1850100[DISCUI]&test_type=Clinical" ref="ncbi_uid=337969">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=337969" target="_blank" href="/omim/260300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=337969">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=337969" ref="ncbi_uid=337969">V</a></span></span><span class="TLline"><a href="/medgen/337969" ref="tree=GTR&ncbi_uid=337969&link_uid=337969" title="View MedGen record for 'Parkinsonian-pyramidal syndrome'">Parkinsonian-pyramidal syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/224837" ref="tree=MeSH" title="MedGen record for Degenerative disorder">Degenerative disorder</a></span><ul><li><span class="TLline"><a href="/medgen/124363" ref="tree=MeSH" title="MedGen record for Degenerative disease of the central nervous system">Degenerative disease of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/41927" ref="tree=MeSH" title="MedGen record for Extrapyramidal disease">Extrapyramidal disease</a></span><ul><li><span class="TLline"><a href="/medgen/10590" ref="tree=MeSH" title="MedGen record for Parkinson disease">Parkinson disease</a></span><ul><li><span class="matched_ds">Autosomal recessive early-onset Parkinson disease 6</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35861376">The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen YP,
|
||
Yu SH,
|
||
Zhang GH,
|
||
Hou YB,
|
||
Gu XJ,
|
||
Ou RW,
|
||
Shen Y,
|
||
Song W,
|
||
Chen XP,
|
||
Zhao B,
|
||
Cao B,
|
||
Zhang LY,
|
||
Sun MM,
|
||
Liu FF,
|
||
Wei QQ,
|
||
Liu KC,
|
||
Lin JY,
|
||
Yang TM,
|
||
Yang J,
|
||
Wu Y,
|
||
Jiang Z,
|
||
Liu J,
|
||
Cheng YF,
|
||
Xiao Y,
|
||
Su WM,
|
||
Feng F,
|
||
Cai YY,
|
||
Li SR,
|
||
Hu T,
|
||
Yuan XQ,
|
||
Zhou QQ,
|
||
Shao N,
|
||
Ma S,
|
||
Shang HF</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2022 Nov;29(11):3218-3228.
|
||
Epub 2022 Aug 4
|
||
doi: 10.1111/ene.15509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35861376" target="_blank">35861376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14520664">Familial aggregation of early- and late-onset Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marder K,
|
||
Levy G,
|
||
Louis ED,
|
||
Mejia-Santana H,
|
||
Cote L,
|
||
Andrews H,
|
||
Harris J,
|
||
Waters C,
|
||
Ford B,
|
||
Frucht S,
|
||
Fahn S,
|
||
Ottman R</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2003 Oct;54(4):507-13.
|
||
doi: 10.1002/ana.10711.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14520664" target="_blank">14520664</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11205133">Importance of familial Parkinson's disease and parkinsonism to the understanding of nigral degeneration in sporadic Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hattori N,
|
||
Shimura H,
|
||
Kubo S,
|
||
Wang M,
|
||
Shimizu N,
|
||
Tanaka K,
|
||
Mizuno Y</span><br />
|
||
<span class="medgenPMjournal">J Neural Transm Suppl</span>
|
||
2000;(60):101-16.
|
||
doi: 10.1007/978-3-7091-6301-6_6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11205133" target="_blank">11205133</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11037196">Autosomal recessive juvenile parkinsonism: a key to understanding nigral degeneration in sporadic Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hattori N,
|
||
Shimura H,
|
||
Kubo S,
|
||
Kitada T,
|
||
Wang M,
|
||
Asakawa S,
|
||
Minashima S,
|
||
Shimizu N,
|
||
Suzuki T,
|
||
Tanaka K,
|
||
Mizuno Y</span><br />
|
||
<span class="medgenPMjournal">Neuropathology</span>
|
||
2000 Sep;20 Suppl:S85-90.
|
||
doi: 10.1046/j.1440-1789.2000.00312.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11037196" target="_blank">11037196</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10824074">Association between early-onset Parkinson's disease and mutations in the parkin gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lücking CB,
|
||
Dürr A,
|
||
Bonifati V,
|
||
Vaughan J,
|
||
De Michele G,
|
||
Gasser T,
|
||
Harhangi BS,
|
||
Meco G,
|
||
Denèfle P,
|
||
Wood NW,
|
||
Agid Y,
|
||
Brice A;
|
||
French Parkinson's Disease Genetics Study Group;
|
||
European Consortium on Genetic Susceptibility in Parkinson's Disease</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2000 May 25;342(21):1560-7.
|
||
doi: 10.1056/NEJM200005253422103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10824074" target="_blank">10824074</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20early-onset%20Parkinson%20disease%206%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (30)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37139542">PLA2G6-associated late-onset parkinsonism in a Sudanese family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakhit Y,
|
||
Tesson C,
|
||
Ibrahim MO,
|
||
Eltom K,
|
||
Eltazi I,
|
||
Elsayed LEO,
|
||
Lesage S,
|
||
Seidi O,
|
||
Corvol JC,
|
||
Wüllner U;
|
||
Sudanese Parkinson's Disease Study Group</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2023 Jun;10(6):983-989.
|
||
Epub 2023 May 3
|
||
doi: 10.1002/acn3.51781.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37139542" target="_blank">37139542</a><a href="/pmc/articles/PMC10270271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36279718">The ADORA1 mutation linked to early-onset Parkinson's disease alters adenosine A(1)-A(2A) receptor heteromer formation and function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarasola LI,
|
||
Del Torrent CL,
|
||
Pérez-Arévalo A,
|
||
Argerich J,
|
||
Casajuana-Martín N,
|
||
Chevigné A,
|
||
Fernández-Dueñas V,
|
||
Ferré S,
|
||
Pardo L,
|
||
Ciruela F</span><br />
|
||
<span class="medgenPMjournal">Biomed Pharmacother</span>
|
||
2022 Dec;156:113896.
|
||
Epub 2022 Oct 21
|
||
doi: 10.1016/j.biopha.2022.113896.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36279718" target="_blank">36279718</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28862745">Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schormair B,
|
||
Kemlink D,
|
||
Mollenhauer B,
|
||
Fiala O,
|
||
Machetanz G,
|
||
Roth J,
|
||
Berutti R,
|
||
Strom TM,
|
||
Haslinger B,
|
||
Trenkwalder C,
|
||
Zahorakova D,
|
||
Martasek P,
|
||
Ruzicka E,
|
||
Winkelmann J</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2018 Mar;93(3):603-612.
|
||
Epub 2018 Jan 24
|
||
doi: 10.1111/cge.13124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28862745" target="_blank">28862745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26942284">Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lesage S,
|
||
Drouet V,
|
||
Majounie E,
|
||
Deramecourt V,
|
||
Jacoupy M,
|
||
Nicolas A,
|
||
Cormier-Dequaire F,
|
||
Hassoun SM,
|
||
Pujol C,
|
||
Ciura S,
|
||
Erpapazoglou Z,
|
||
Usenko T,
|
||
Maurage CA,
|
||
Sahbatou M,
|
||
Liebau S,
|
||
Ding J,
|
||
Bilgic B,
|
||
Emre M,
|
||
Erginel-Unaltuna N,
|
||
Guven G,
|
||
Tison F,
|
||
Tranchant C,
|
||
Vidailhet M,
|
||
Corvol JC,
|
||
Krack P,
|
||
Leutenegger AL,
|
||
Nalls MA,
|
||
Hernandez DG,
|
||
Heutink P,
|
||
Gibbs JR,
|
||
Hardy J,
|
||
Wood NW,
|
||
Gasser T,
|
||
Durr A,
|
||
Deleuze JF,
|
||
Tazir M,
|
||
Destée A,
|
||
Lohmann E,
|
||
Kabashi E,
|
||
Singleton A,
|
||
Corti O,
|
||
Brice A;
|
||
French Parkinson's Disease Genetics Study (PDG);
|
||
International Parkinson's Disease Genomics Consortium (IPDGC)</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2016 Mar 3;98(3):500-513.
|
||
doi: 10.1016/j.ajhg.2016.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26942284" target="_blank">26942284</a><a href="/pmc/articles/PMC4800038" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10824074">Association between early-onset Parkinson's disease and mutations in the parkin gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lücking CB,
|
||
Dürr A,
|
||
Bonifati V,
|
||
Vaughan J,
|
||
De Michele G,
|
||
Gasser T,
|
||
Harhangi BS,
|
||
Meco G,
|
||
Denèfle P,
|
||
Wood NW,
|
||
Agid Y,
|
||
Brice A;
|
||
French Parkinson's Disease Genetics Study Group;
|
||
European Consortium on Genetic Susceptibility in Parkinson's Disease</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2000 May 25;342(21):1560-7.
|
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doi: 10.1056/NEJM200005253422103.
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<span class="bold">PMID: </span><a href="/pubmed/10824074" target="_blank">10824074</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20early-onset%20Parkinson%20disease%206%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 (21)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29529199">Superoxide dismutating molecules rescue the toxic effects of PINK1 and parkin loss.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Biosa A,
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Sanchez-Martinez A,
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Filograna R,
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Terriente-Felix A,
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Alam SM,
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Beltramini M,
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<div class="portlet_content ln"><span class="medgenPMauthor">Halder T,
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Graham E,
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2001 Feb;22(1):51-2.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20early-onset%20Parkinson%20disease%206%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36047608">Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.</a></div>
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Synofzik M,
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<span class="bold">PMID: </span><a href="/pubmed/36047608" target="_blank">36047608</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wei J,
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Takamatsu Y,
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Wada R,
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Fujita M,
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Ho G,
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Hashimoto M</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/33672048" target="_blank">33672048</a><a href="/pmc/articles/PMC7919466" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/32557143">Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Smaili I,
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Tesson C,
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Regragui W,
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<span class="bold">PMID: </span><a href="/pubmed/32557143" target="_blank">32557143</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Simón-Sánchez J,
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Kilarski LL,
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Nalls MA,
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Martinez M,
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Schulte C,
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Holmans P;
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International Parkinson's Disease Genomics Consortium;
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||
Wellcome Trust Case Control Consortium,
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Gasser T,
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Hardy J,
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Singleton AB,
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Wood NW,
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Brice A,
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2012;7(3):e28787.
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Epub 2012 Mar 12
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<span class="bold">PMID: </span><a href="/pubmed/22427796" target="_blank">22427796</a><a href="/pmc/articles/PMC3299635" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10984671">Autosomal recessive juvenile parkinsonism.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Saito M,
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Maruyama M,
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Ikeuchi K,
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Kondo H,
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20early-onset%20Parkinson%20disease%206%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 (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33672048">Therapeutic Potential of αS Evolvability for Neuropathic Gaucher Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei J,
|
||
Takamatsu Y,
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||
Wada R,
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||
Fujita M,
|
||
Ho G,
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||
Masliah E,
|
||
Hashimoto M</span><br />
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||
<span class="medgenPMjournal">Biomolecules</span>
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||
2021 Feb 15;11(2)
|
||
doi: 10.3390/biom11020289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33672048" target="_blank">33672048</a><a href="/pmc/articles/PMC7919466" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32861104">PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan AH,
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||
Lohmann K,
|
||
Tay YW,
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||
Lim JL,
|
||
Ahmad-Annuar A,
|
||
Ramli N,
|
||
Chin YT,
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||
Mawardi AS,
|
||
Azmi K,
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||
Aziz ZA,
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||
Puvanarajah SD,
|
||
Bauer P,
|
||
Klein C,
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||
Rolfs A,
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Lim SY</span><br />
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<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
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||
2020 Oct;79:34-39.
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||
Epub 2020 Aug 19
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||
doi: 10.1016/j.parkreldis.2020.08.015.
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||
<span class="bold">PMID: </span><a href="/pubmed/32861104" target="_blank">32861104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12730996">Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira SA,
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||
Scott WK,
|
||
Martin ER,
|
||
Nance MA,
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||
Watts RL,
|
||
Hubble JP,
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||
Koller WC,
|
||
Pahwa R,
|
||
Stern MB,
|
||
Hiner BC,
|
||
Ondo WG,
|
||
Allen FH Jr,
|
||
Scott BL,
|
||
Goetz CG,
|
||
Small GW,
|
||
Mastaglia F,
|
||
Stajich JM,
|
||
Zhang F,
|
||
Booze MW,
|
||
Winn MP,
|
||
Middleton LT,
|
||
Haines JL,
|
||
Pericak-Vance MA,
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Vance JM</span><br />
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||
<span class="medgenPMjournal">Ann Neurol</span>
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||
2003 May;53(5):624-9.
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||
doi: 10.1002/ana.10524.
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||
<span class="bold">PMID: </span><a href="/pubmed/12730996" target="_blank">12730996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11462174">Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Duijn CM,
|
||
Dekker MC,
|
||
Bonifati V,
|
||
Galjaard RJ,
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||
Houwing-Duistermaat JJ,
|
||
Snijders PJ,
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||
Testers L,
|
||
Breedveld GJ,
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||
Horstink M,
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||
Sandkuijl LA,
|
||
van Swieten JC,
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||
Oostra BA,
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Heutink P</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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||
2001 Sep;69(3):629-34.
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||
Epub 2001 Jul 2
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||
doi: 10.1086/322996.
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||
<span class="bold">PMID: </span><a href="/pubmed/11462174" target="_blank">11462174</a><a href="/pmc/articles/PMC1235491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11037196">Autosomal recessive juvenile parkinsonism: a key to understanding nigral degeneration in sporadic Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hattori N,
|
||
Shimura H,
|
||
Kubo S,
|
||
Kitada T,
|
||
Wang M,
|
||
Asakawa S,
|
||
Minashima S,
|
||
Shimizu N,
|
||
Suzuki T,
|
||
Tanaka K,
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||
Mizuno Y</span><br />
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<span class="medgenPMjournal">Neuropathology</span>
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||
2000 Sep;20 Suppl:S85-90.
|
||
doi: 10.1046/j.1440-1789.2000.00312.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11037196" target="_blank">11037196</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20early-onset%20Parkinson%20disease%206%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 (28)</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">
|
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<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>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<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=C1853833%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853833%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853833%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (34)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853833%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1853833%5bDISCUI%5d" target="_blank">See all (40)</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>
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||
<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=605909" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autosomal%20recessive%20early-onset%20Parkinson%20disease%206" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<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=608309" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=65018[geneid]" target="_blank">View PINK1 variations in ClinVar</a></li><li><a href="/nuccore/193290126" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=605909" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/parkinson_disease_6_autosomal_recessive_early_onset" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Autosomal%20recessive%20early-onset%20Parkinson%20disease%206" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/parkinsons-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18605/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">
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<h3>Reviews</h3>
|
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</div>
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<div class="portlet_content">
|
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<ul>
|
||
<li>
|
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<a href="/pubmed/20301792" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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</li>
|
||
<li>
|
||
<a href="/pubmed/20301402" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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</li>
|
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<li>
|
||
<a href="/pubmed/clinical?term=Autosomal%20recessive%20early-onset%20Parkinson%20disease%206" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
|
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca6bf4b15b832ebc008989">Autosomal recessive early-onset Parkinson disease 6</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca6bf084f3725e592dff08">Autosomal recessive dyskeratosis congenita</a>
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