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<meta name="keywords" content="C4693583, disease or syndrome, nbia7, neurodegeneration with brain iron accumulation 7, reps1, 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="Neurodegeneration with brain iron accumulation-7 (NBIA7) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis. Severity and rate of progression are variable (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1647672
|
||
ConceptID=C4693583
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodegeneration with brain iron accumulation 7<span class="h1sub">(NBIA7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647672</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:">C4693583</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>NBIA7; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7</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="REPS1 - ID: 85021 - NCBI Gene" href="/gene/85021" class="medgenPMinfo">REPS1</a> (6q24.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0054763" target="_blank">MONDO:0054763</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617916" target="_blank">617916</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Neurodegeneration with brain iron accumulation-7 (NBIA7) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis. Severity and rate of progression are variable (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</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_675590"><div><strong>Pes cavus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675590</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.">C0728829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/675590">Feature record</a> | <a href="/medgen?term=%22Pes%20cavus%22%5BClinical%20Features%5D%20OR%20675590%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) 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_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) 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) 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) 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_6070"><div><strong>Leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6070</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.">C0023520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6070">Feature record</a> | <a href="/medgen?term=%22Leukodystrophy%22%5BClinical%20Features%5D%20OR%206070%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101791"><div><strong>Sensory neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101791</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.">C0151313</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peripheral neuropathy affecting the sensory nerves.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101791">Feature record</a> | <a href="/medgen?term=%22Sensory%20neuropathy%22%5BClinical%20Features%5D%20OR%20101791%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</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.">C0234162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116012"><div><strong>Cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116012</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.">C0235946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116012">Feature record</a> | <a href="/medgen?term=%22Cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20116012%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</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.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</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.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220865"><div><strong>Lower limb spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220865</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.">C1271100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220865">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20spasticity%22%5BClinical%20Features%5D%20OR%20220865%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332305"><div><strong>Loss of ambulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332305</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.">C1836843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to walk in a person who previous had the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332305">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20ambulation%22%5BClinical%20Features%5D%20OR%20332305%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_401075"><div><strong>Spinocerebellar tract degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401075</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.">C1866751</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401075">Feature record</a> | <a href="/medgen?term=%22Spinocerebellar%20tract%20degeneration%22%5BClinical%20Features%5D%20OR%20401075%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_382164"><div><strong>Brisk reflexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382164</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.">C2673700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382164">Feature record</a> | <a href="/medgen?term=%22Brisk%20reflexes%22%5BClinical%20Features%5D%20OR%20382164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866729"><div><strong>Iron accumulation in brain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866729</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.">C4021076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal build up of iron (Fe) in brain tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866729">Feature record</a> | <a href="/medgen?term=%22Iron%20accumulation%20in%20brain%22%5BClinical%20Features%5D%20OR%20866729%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) 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_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</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.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1788690"><div><strong>Increased circulating very long-chain fatty acid concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788690</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.">C5539740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1788690">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20very%20long-chain%20fatty%20acid%20concentration%22%5BClinical%20Features%5D%20OR%201788690%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_675590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes cavus</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_1788690" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating very long-chain fatty acid concentration</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></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_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</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_342959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial 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_382164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brisk reflexes</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_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</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_68583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmetria</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_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866729" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iron accumulation in brain</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332305" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of ambulation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensory neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_401075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar tract degeneration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">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=C2931845[DISCUI]&test_type=Clinical" ref="ncbi_uid=444156">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/NBK121988/" ref="ncbi_uid=444156">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=444156" ref="ncbi_uid=444156">V</a></span></span><span class="TLline"><a href="/medgen/444156" ref="tree=GTR&ncbi_uid=444156&link_uid=444156" title="View MedGen record for 'Neurodegeneration with brain iron accumulation'">Neurodegeneration with brain iron accumulation</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=C0878682[DISCUI]&test_type=Clinical" ref="ncbi_uid=168057">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0878682[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=168057">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=168057" target="_blank" href="/omim/117700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1493%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=168057">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=168057" ref="ncbi_uid=168057">V</a></span></span><span class="TLline"><a href="/medgen/168057" ref="tree=GTR&ncbi_uid=168057&link_uid=168057" title="View MedGen record for 'Deficiency of ferroxidase'">Deficiency of ferroxidase</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=C4310667[DISCUI]&test_type=Clinical" ref="ncbi_uid=934634">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934634" target="_blank" href="/omim/604934">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934634" ref="ncbi_uid=934634">V</a></span></span><span class="TLline"><a href="/medgen/934634" ref="tree=GTR&ncbi_uid=934634&link_uid=934634" title="View MedGen record for 'Encephalopathy, progressive, with amyotrophy and optic atrophy'">Encephalopathy, progressive, with amyotrophy and optic atrophy</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=C3668943[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=777150">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=777150" target="_blank" href="/omim/612319">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK56080/" ref="ncbi_uid=777150">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/777150" ref="tree=GTR&ncbi_uid=777150&link_uid=777150" title="View MedGen record for 'Fatty acid hydroxylase-associated neurodegeneration'">Fatty acid hydroxylase-associated neurodegeneration</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=C3496228[DISCUI]&test_type=Clinical" ref="ncbi_uid=501249">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501249" target="_blank" href="/omim/611026">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK56080%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=501249">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=501249" ref="ncbi_uid=501249">V</a></span></span><span class="TLline"><a href="/medgen/501249" ref="tree=GTR&ncbi_uid=501249&link_uid=501249" title="View MedGen record for 'Hereditary spastic paraplegia 35'">Hereditary spastic paraplegia 35</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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280371[DISCUI]&test_type=Clinical" ref="ncbi_uid=482001">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482001" target="_blank" href="/omim/614298">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK121988%20OR%20NBK185329)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=482001">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482001" ref="ncbi_uid=482001">V</a></span></span><span class="TLline"><a href="/medgen/482001" ref="tree=GTR&ncbi_uid=482001&link_uid=482001" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 4'">Neurodegeneration with brain iron accumulation 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=C3550973[DISCUI]&test_type=Clinical" ref="ncbi_uid=763887">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=763887" target="_blank" href="/omim/300526">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK121988%20OR%20NBK424403)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=763887">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=763887" ref="ncbi_uid=763887">V</a></span></span><span class="TLline"><a href="/medgen/763887" ref="tree=GTR&ncbi_uid=763887&link_uid=763887" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 5'">Neurodegeneration with brain iron accumulation 5</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=C4517377[DISCUI]&test_type=Clinical" ref="ncbi_uid=1387791">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1387791" target="_blank" href="/omim/609855">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK121988/" ref="ncbi_uid=1387791">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1387791" ref="ncbi_uid=1387791">V</a></span></span><span class="TLline"><a href="/medgen/1387791" ref="tree=GTR&ncbi_uid=1387791&link_uid=1387791" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 6'">Neurodegeneration with brain iron accumulation 6</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=C4693583[DISCUI]&test_type=Clinical" ref="ncbi_uid=1647672">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1647672" target="_blank" href="/omim/614825">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1647672" ref="ncbi_uid=1647672">V</a></span></span><span class="TLline">Neurodegeneration with brain iron accumulation 7</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4693587[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645224">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645224" target="_blank" href="/omim/600184">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1645224" ref="ncbi_uid=1645224">V</a></span></span><span class="TLline"><a href="/medgen/1645224" ref="tree=GTR&ncbi_uid=1645224&link_uid=1645224" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 8'">Neurodegeneration with brain iron accumulation 8</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=C1853578[DISCUI]&test_type=Clinical" ref="ncbi_uid=381211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381211" target="_blank" href="/omim/134790">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1141%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=381211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=381211" ref="ncbi_uid=381211">V</a></span></span><span class="TLline"><a href="/medgen/381211" ref="tree=GTR&ncbi_uid=381211&link_uid=381211" title="View MedGen record for 'Neuroferritinopathy'">Neuroferritinopathy</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=C0018523[DISCUI]&test_type=Clinical" ref="ncbi_uid=6708">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=6708" target="_blank" href="/omim/234200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1490%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=6708">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6708" ref="ncbi_uid=6708">V</a></span></span><span class="TLline"><a href="/medgen/6708" ref="tree=GTR&ncbi_uid=6708&link_uid=6708" title="View MedGen record for 'Pigmentary pallidal degeneration'">Pigmentary pallidal degeneration</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/1800044" ref="tree=GTR&ncbi_uid=1800044&link_uid=1800044" title="View MedGen record for 'Atypical pantothenate kinase-associated neurodegeneration'">Atypical pantothenate kinase-associated neurodegeneration</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C5679812[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1826057">R</a></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/1826057" ref="tree=GTR&ncbi_uid=1826057&link_uid=1826057" title="View MedGen record for 'Classic pantothenate kinase-associated neurodegeneration'">Classic pantothenate kinase-associated neurodegeneration</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN204472[DISCUI]&test_type=Clinical" ref="ncbi_uid=831067">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/NBK1675/" ref="ncbi_uid=831067">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=831067" ref="ncbi_uid=831067">V</a></span></span><span class="TLline"><a href="/medgen/831067" ref="tree=GTR&ncbi_uid=831067&link_uid=831067" title="View MedGen record for 'PLA2G6-associated neurodegeneration'">PLA2G6-associated neurodegeneration</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=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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270724[DISCUI]&test_type=Clinical" ref="ncbi_uid=82852">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82852" target="_blank" href="/omim/256600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1675%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=82852">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82852" ref="ncbi_uid=82852">V</a></span></span><span class="TLline"><a href="/medgen/82852" ref="tree=GTR&ncbi_uid=82852&link_uid=82852" title="View MedGen record for 'Infantile neuroaxonal dystrophy'">Infantile neuroaxonal dystrophy</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=C1857747[DISCUI]&test_type=Clinical" ref="ncbi_uid=346658">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346658" target="_blank" href="/omim/603604">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1675/" ref="ncbi_uid=346658">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346658" ref="ncbi_uid=346658">V</a></span></span><span class="TLline"><a href="/medgen/346658" ref="tree=GTR&ncbi_uid=346658&link_uid=346658" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 2B'">Neurodegeneration with brain iron accumulation 2B</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342286[DISCUI]&test_type=Clinical" ref="ncbi_uid=83337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=83337" target="_blank" href="/omim/241080">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK121988%20OR%20NBK378974)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=83337">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=83337" ref="ncbi_uid=83337">V</a></span></span><span class="TLline"><a href="/medgen/83337" ref="tree=GTR&ncbi_uid=83337&link_uid=83337" title="View MedGen record for 'Woodhouse-Sakati syndrome'">Woodhouse-Sakati 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/444156" ref="tree=MeSH" title="MedGen record for Neurodegeneration with brain iron accumulation">Neurodegeneration with brain iron accumulation</a></span><ul><li><span class="matched_ds">Neurodegeneration with brain iron accumulation 7</span></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/38291840">Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amini E,
|
||
Rohani M,
|
||
Lang AE,
|
||
Azad Z,
|
||
Habibi SAH,
|
||
Alavi A,
|
||
Shahidi G,
|
||
Emamikhah M,
|
||
Chitsaz A</span><br />
|
||
<span class="medgenPMjournal">Mov Disord Clin Pract</span>
|
||
2024 Jan;11(1):53-62.
|
||
Epub 2023 Dec 1
|
||
doi: 10.1002/mdc3.13933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38291840" target="_blank">38291840</a><a href="/pmc/articles/PMC10828622" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37453004">Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Si L,
|
||
Wang Z,
|
||
Li XY,
|
||
Song Y,
|
||
Yao T,
|
||
Xu E,
|
||
Wang X,
|
||
Wang C</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2023 Oct;24(4):231-241.
|
||
Epub 2023 Jul 15
|
||
doi: 10.1007/s10048-023-00725-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37453004" target="_blank">37453004</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35481685">Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lange LM,
|
||
Gonzalez-Latapi P,
|
||
Rajalingam R,
|
||
Tijssen MAJ,
|
||
Ebrahimi-Fakhari D,
|
||
Gabbert C,
|
||
Ganos C,
|
||
Ghosh R,
|
||
Kumar KR,
|
||
Lang AE,
|
||
Rossi M,
|
||
van der Veen S,
|
||
van de Warrenburg B,
|
||
Warner T,
|
||
Lohmann K,
|
||
Klein C,
|
||
Marras C;
|
||
on behalf of the Task Force on Genetic Nomenclature in Movement Disorders</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2022 May;37(5):905-935.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1002/mds.28982.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35481685" target="_blank">35481685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33439270">Pathogenic mechanism and modeling of neuroferritinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cozzi A,
|
||
Santambrogio P,
|
||
Ripamonti M,
|
||
Rovida E,
|
||
Levi S</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
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2021 Apr;78(7):3355-3367.
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Epub 2021 Jan 13
|
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doi: 10.1007/s00018-020-03747-w.
|
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<span class="bold">PMID: </span><a href="/pubmed/33439270" target="_blank">33439270</a><a href="/pmc/articles/PMC11072144" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27487380">A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salomão RP,
|
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Pedroso JL,
|
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Gama MT,
|
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Dutra LA,
|
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Maciel RH,
|
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Godeiro-Junior C,
|
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Chien HF,
|
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Teive HA,
|
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Cardoso F,
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Barsottini OG</span><br />
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<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
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2016 Jul;74(7):587-96.
|
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doi: 10.1590/0004-282X20160080.
|
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<span class="bold">PMID: </span><a href="/pubmed/27487380" target="_blank">27487380</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%207%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 (48)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38830145">Distinctive Pattern of Metal Deposition in Neurologic Wilson Disease: Insights From 7T Susceptibility-Weighted Imaging.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Su D,
|
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Zhang Z,
|
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Zhang Z,
|
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Zheng S,
|
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Yao T,
|
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Dong Y,
|
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Zhu W,
|
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Wei N,
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Suo Y,
|
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Liu X,
|
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Zhao H,
|
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Wang Z,
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Ma H,
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Li W,
|
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Zhou J,
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Lam JST,
|
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Wu T,
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Dusek P,
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Stoessl AJ,
|
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Wang X,
|
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Jing J,
|
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Feng T</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2024 Jun 25;102(12):e209478.
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Epub 2024 Jun 3
|
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doi: 10.1212/WNL.0000000000209478.
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<span class="bold">PMID: </span><a href="/pubmed/38830145" target="_blank">38830145</a><a href="/pmc/articles/PMC11244749" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37453004">Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Si L,
|
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Wang Z,
|
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Li XY,
|
||
Song Y,
|
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Yao T,
|
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Xu E,
|
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Wang X,
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Wang C</span><br />
|
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<span class="medgenPMjournal">Neurogenetics</span>
|
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2023 Oct;24(4):231-241.
|
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Epub 2023 Jul 15
|
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doi: 10.1007/s10048-023-00725-9.
|
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<span class="bold">PMID: </span><a href="/pubmed/37453004" target="_blank">37453004</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33439270">Pathogenic mechanism and modeling of neuroferritinopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Cozzi A,
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Santambrogio P,
|
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Ripamonti M,
|
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Rovida E,
|
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Levi S</span><br />
|
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<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
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2021 Apr;78(7):3355-3367.
|
||
Epub 2021 Jan 13
|
||
doi: 10.1007/s00018-020-03747-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33439270" target="_blank">33439270</a><a href="/pmc/articles/PMC11072144" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27487380">A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salomão RP,
|
||
Pedroso JL,
|
||
Gama MT,
|
||
Dutra LA,
|
||
Maciel RH,
|
||
Godeiro-Junior C,
|
||
Chien HF,
|
||
Teive HA,
|
||
Cardoso F,
|
||
Barsottini OG</span><br />
|
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<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2016 Jul;74(7):587-96.
|
||
doi: 10.1590/0004-282X20160080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27487380" target="_blank">27487380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24209446">Editorial: Metal-related neurological disorders: several new genes and better understanding. Preface.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schneider SA,
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Bhatia KP</span><br />
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<span class="medgenPMjournal">Int Rev Neurobiol</span>
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2013;110:xv-xviii.
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doi: 10.1016/B978-0-12-410502-7.09988-9.
|
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<span class="bold">PMID: </span><a href="/pubmed/24209446" target="_blank">24209446</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%207%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 (39)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38872972">Oral phytate supplementation on the progression of mild cognitive impairment, brain iron deposition and diabetic retinopathy in patients with type 2 diabetes: a concept paper for a randomized double blind placebo controlled trial (the PHYND trial).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pujol A,
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Sanchis P,
|
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Tamayo MI,
|
||
Nicolau J,
|
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Grases F,
|
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Espino A,
|
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Estremera A,
|
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Rigo E,
|
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Amengual GJ,
|
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Rodríguez M,
|
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Ribes JL,
|
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Gomila I,
|
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Simó-Servat O,
|
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Masmiquel L</span><br />
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2024;15:1332237.
|
||
Epub 2024 May 30
|
||
doi: 10.3389/fendo.2024.1332237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38872972" target="_blank">38872972</a><a href="/pmc/articles/PMC11169791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34313926">Role of metals in Alzheimer's disease.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Das N,
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Raymick J,
|
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Sarkar S</span><br />
|
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<span class="medgenPMjournal">Metab Brain Dis</span>
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2021 Oct;36(7):1627-1639.
|
||
Epub 2021 Jul 27
|
||
doi: 10.1007/s11011-021-00765-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34313926" target="_blank">34313926</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34310628">The iron chelator, PBT434, modulates transcellular iron trafficking in brain microvascular endothelial cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bailey DK,
|
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Clark W,
|
||
Kosman DJ</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2021;16(7):e0254794.
|
||
Epub 2021 Jul 26
|
||
doi: 10.1371/journal.pone.0254794.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34310628" target="_blank">34310628</a><a href="/pmc/articles/PMC8312958" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33491917">Regional brain iron associated with deterioration in Alzheimer's disease: A large cohort study and theoretical significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ayton S,
|
||
Portbury S,
|
||
Kalinowski P,
|
||
Agarwal P,
|
||
Diouf I,
|
||
Schneider JA,
|
||
Morris MC,
|
||
Bush AI</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Dement</span>
|
||
2021 Jul;17(7):1244-1256.
|
||
Epub 2021 Jan 25
|
||
doi: 10.1002/alz.12282.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33491917" target="_blank">33491917</a><a href="/pmc/articles/PMC9701539" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24209446">Editorial: Metal-related neurological disorders: several new genes and better understanding. Preface.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schneider SA,
|
||
Bhatia KP</span><br />
|
||
<span class="medgenPMjournal">Int Rev Neurobiol</span>
|
||
2013;110:xv-xviii.
|
||
doi: 10.1016/B978-0-12-410502-7.09988-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24209446" target="_blank">24209446</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%207%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38872972">Oral phytate supplementation on the progression of mild cognitive impairment, brain iron deposition and diabetic retinopathy in patients with type 2 diabetes: a concept paper for a randomized double blind placebo controlled trial (the PHYND trial).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pujol A,
|
||
Sanchis P,
|
||
Tamayo MI,
|
||
Nicolau J,
|
||
Grases F,
|
||
Espino A,
|
||
Estremera A,
|
||
Rigo E,
|
||
Amengual GJ,
|
||
Rodríguez M,
|
||
Ribes JL,
|
||
Gomila I,
|
||
Simó-Servat O,
|
||
Masmiquel L</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2024;15:1332237.
|
||
Epub 2024 May 30
|
||
doi: 10.3389/fendo.2024.1332237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38872972" target="_blank">38872972</a><a href="/pmc/articles/PMC11169791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38761956">Cellular iron deposition patterns predict clinical subtypes of multiple system atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee S,
|
||
Martinez-Valbuena I,
|
||
Lang AE,
|
||
Kovacs GG</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2024 Jul;197:106535.
|
||
Epub 2024 May 16
|
||
doi: 10.1016/j.nbd.2024.106535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38761956" target="_blank">38761956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38291840">Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amini E,
|
||
Rohani M,
|
||
Lang AE,
|
||
Azad Z,
|
||
Habibi SAH,
|
||
Alavi A,
|
||
Shahidi G,
|
||
Emamikhah M,
|
||
Chitsaz A</span><br />
|
||
<span class="medgenPMjournal">Mov Disord Clin Pract</span>
|
||
2024 Jan;11(1):53-62.
|
||
Epub 2023 Dec 1
|
||
doi: 10.1002/mdc3.13933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38291840" target="_blank">38291840</a><a href="/pmc/articles/PMC10828622" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37815224">Multimodal layer modelling reveals in vivo pathology in amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Northall A,
|
||
Doehler J,
|
||
Weber M,
|
||
Tellez I,
|
||
Petri S,
|
||
Prudlo J,
|
||
Vielhaber S,
|
||
Schreiber S,
|
||
Kuehn E</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Mar 1;147(3):1087-1099.
|
||
doi: 10.1093/brain/awad351.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37815224" target="_blank">37815224</a><a href="/pmc/articles/PMC10907094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37899522">Cortical Iron Accumulation as an Imaging Marker for Neurodegeneration in Clinical Cognitive Impairment Spectrum: A Quantitative Susceptibility Mapping Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim HW,
|
||
Lee S,
|
||
Yang JH,
|
||
Moon Y,
|
||
Lee J,
|
||
Moon WJ</span><br />
|
||
<span class="medgenPMjournal">Korean J Radiol</span>
|
||
2023 Nov;24(11):1131-1141.
|
||
doi: 10.3348/kjr.2023.0490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37899522" target="_blank">37899522</a><a href="/pmc/articles/PMC10613848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%207%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 (18)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39184971">The Clinical, Radiological and Genetic Spectrum of PLA2G6-Associated Neurodegeneration: An Experience From a Tertiary Center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holla VV,
|
||
Samim MM,
|
||
Kumari R,
|
||
Dhar D,
|
||
Phulpagar P,
|
||
Sriram N,
|
||
Prasad S,
|
||
Saini J,
|
||
Kamble N,
|
||
Yadav R,
|
||
Muthusamy B,
|
||
Pal PK</span><br />
|
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<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2024;14:41.
|
||
Epub 2024 Aug 21
|
||
doi: 10.5334/tohm.897.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39184971" target="_blank">39184971</a><a href="/pmc/articles/PMC11342831" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38761956">Cellular iron deposition patterns predict clinical subtypes of multiple system atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee S,
|
||
Martinez-Valbuena I,
|
||
Lang AE,
|
||
Kovacs GG</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2024 Jul;197:106535.
|
||
Epub 2024 May 16
|
||
doi: 10.1016/j.nbd.2024.106535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38761956" target="_blank">38761956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37815224">Multimodal layer modelling reveals in vivo pathology in amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Northall A,
|
||
Doehler J,
|
||
Weber M,
|
||
Tellez I,
|
||
Petri S,
|
||
Prudlo J,
|
||
Vielhaber S,
|
||
Schreiber S,
|
||
Kuehn E</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Mar 1;147(3):1087-1099.
|
||
doi: 10.1093/brain/awad351.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37815224" target="_blank">37815224</a><a href="/pmc/articles/PMC10907094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37899522">Cortical Iron Accumulation as an Imaging Marker for Neurodegeneration in Clinical Cognitive Impairment Spectrum: A Quantitative Susceptibility Mapping Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim HW,
|
||
Lee S,
|
||
Yang JH,
|
||
Moon Y,
|
||
Lee J,
|
||
Moon WJ</span><br />
|
||
<span class="medgenPMjournal">Korean J Radiol</span>
|
||
2023 Nov;24(11):1131-1141.
|
||
doi: 10.3348/kjr.2023.0490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37899522" target="_blank">37899522</a><a href="/pmc/articles/PMC10613848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35830960">Abnormal brain iron accumulation in obstructive sleep apnea: A quantitative MRI study in the HypnoLaus cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marchi NA,
|
||
Pizzarotti B,
|
||
Solelhac G,
|
||
Berger M,
|
||
Haba-Rubio J,
|
||
Preisig M,
|
||
Vollenweider P,
|
||
Marques-Vidal P,
|
||
Lutti A,
|
||
Kherif F,
|
||
Heinzer R,
|
||
Draganski B</span><br />
|
||
<span class="medgenPMjournal">J Sleep Res</span>
|
||
2022 Dec;31(6):e13698.
|
||
Epub 2022 Jul 13
|
||
doi: 10.1111/jsr.13698.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35830960" target="_blank">35830960</a><a href="/pmc/articles/PMC9787990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%207%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 (30)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4693583%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
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<li><a href="/gtr/tests?term=C4693583%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
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<li><a href="/gtr/tests?term=C4693583%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc461384f3725e59c66e6e">Neurodegeneration with brain iron accumulation 7</a>
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