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<meta name="keywords" content="C5235211, disease or syndrome, hereditary sensory and autonomic neuropathy type 1 caused by mutation in sptlc1, hereditary sensory and autonomic neuropathy type 1a, hereditary sensory and autonomic neuropathy type ia, hereditary sensory autonomic neuropathy type ia, hereditary sensory neuropathy type ia, hsan 1a, hsan ia, hsan1a, hsn 1a, hsn ia, hsn1a, neuropathy, hereditary sensory and autonomic, type 1a, neuropathy, hereditary sensory and autonomic, type ia, neuropathy, hereditary sensory radicular, autosomal dominant, type 1a, neuropathy, hereditary sensory, type 1a, neuropathy, hereditary sensory, type ia, sptlc1, sptlc1 hereditary sensory and autonomic neuropathy type 1, 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="SPTLC1-related hereditary sensory neuropathy (HSN) is an axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena including dysesthesia and characteristic "lightning" or "shooting" pains. Loss of sensation can lead to painless injuries, which, if unrecognized, result in slow wound healing and subsequent osteomyelitis requiring distal amputations. Motor involvement is present in all advanced cases and can be severe. After age 20 years, the distal wasting and weakness may involve proximal muscles, possibly leading to wheelchair dependency by the seventh or eighth decade. Sensorineural hearing loss is variable." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1716450
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ConceptID=C5235211
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neuropathy, hereditary sensory and autonomic, type 1A<span class="h1sub">(HSAN1A)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716450</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:">C5235211</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>Hereditary Sensory Neuropathy Type IA; HSAN IA; HSAN1A; HSN IA; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL DOMINANT, TYPE 1A</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hereditary sensory autonomic neuropathy type IA (860813007)</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="SPTLC1 - ID: 10558 - NCBI Gene" href="/gene/10558" class="medgenPMinfo">SPTLC1</a> (9q22.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008086" target="_blank">MONDO:0008086</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/162400" target="_blank">162400</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_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1390" target="_blank">SPTLC1-Related Hereditary Sensory Neuropathy</a></div><div>SPTLC1-related hereditary sensory neuropathy (HSN) is an axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena including dysesthesia and characteristic "lightning" or "shooting" pains. Loss of sensation can lead to painless injuries, which, if unrecognized, result in slow wound healing and subsequent osteomyelitis requiring distal amputations. Motor involvement is present in all advanced cases and can be severe. After age 20 years, the distal wasting and weakness may involve proximal muscles, possibly leading to wheelchair dependency by the seventh or eighth decade. Sensorineural hearing loss is variable. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1390#hsn1.Summary" target="NBK1390">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1390#hsn1.Diagnosis" target="NBK1390">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1390#hsn1.Clinical_Characteristics" target="NBK1390">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1390#hsn1.Genetically_Related_Allelic_Disorde" target="NBK1390">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1390#hsn1.Differential_Diagnosis" target="NBK1390">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1390#hsn1.Management" target="NBK1390">Management</a> | <a class="medgenPMinfo" href="/books/NBK1390#hsn1.Genetic_Counseling" target="NBK1390">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1390#hsn1.Resources" target="NBK1390">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1390#hsn1.Molecular_Genetics" target="NBK1390">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1390#hsn1.Chapter_Notes" target="NBK1390">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1390#hsn1.References" target="NBK1390">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Garth A Nicholson <a href="/books/NBK1390" target="NBK1390" title="NCBI Bookshelf: SPTLC1-Related Hereditary Sensory Neuropathy">view full author information</a></div></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 OMIM</strong><br />Hereditary sensory and autonomic neuropathy type IA (HSAN1A) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic (summary by Rotthier et al., 2010 and Gantner et al., 2019). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits (Fridman et al., 2019).
|
||
Genetic Heterogeneity of Hereditary Sensory and Autonomic Neuropathy
|
||
See also HSAN1C (613640), caused by mutation in the SPTLC2 gene (605713) on 14q24; HSN1D (613708), caused by mutation in the ATL1 gene (606439) on 14q22; HSN1E (614116), caused by mutation in the DNMT1 gene (126375) on 19p13; HSN1F (615632), caused by mutation in the ATL3 gene (609369) on 11q13; HSAN2A (201300), caused by mutation in the HSN2 isoform of the WNK1 gene (605232) on 12p13; HSAN2B (613115), caused by mutation in the FAM134B gene (613114) on 5p15; HSN2C (614213), caused by mutation in the KIF1A gene (601255) on 2q37; HSAN2D (see 243000), caused by mutation in the SCN9A gene (603415) on 2q24; HSAN3 (223900), caused by mutation in the ELP1 gene (603722) on 9q31; HSAN4 (256800), caused by mutation in the NTRK1 gene (191315) on 1q23; HSAN5 (608654), caused by mutation in the NGF gene (162030) on 1p13; HSAN6 (614653), caused by mutation in the DST gene (113810) on 6p12; HSAN7 (615548), caused by mutation in the SCN11A gene (604385) on 3p22; and HSAN8 (616488), caused by mutation in the PRDM12 gene (616458) on chromosome 9q34.
|
||
Adult-onset HSAN with anosmia (608720) may be another distinct form of HSAN, and HSAN1B (608088) with cough and gastroesophageal reflux maps to chromosome 3p24-p22. <a target="_blank" href="http://www.omim.org/entry/162400">http://www.omim.org/entry/162400</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_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_871255"><div><strong>Autoamputation of foot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871255</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.">C4025740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spontaneous detachment of a foot from the body due to long standing pathology.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871255">Feature record</a> | <a href="/medgen?term=%22Autoamputation%20of%20foot%22%5BClinical%20Features%5D%20OR%20871255%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9164"><div><strong>Sensorineural hearing loss disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9164</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.">C0018784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen?term=%22Sensorineural%20hearing%20loss%20disorder%22%5BClinical%20Features%5D%20OR%209164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115943"><div><strong>Areflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115943</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.">C0234146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115943">Feature record</a> | <a href="/medgen?term=%22Areflexia%22%5BClinical%20Features%5D%20OR%20115943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68689"><div><strong>Hand tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68689</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.">C0239842</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement affecting the hand.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68689">Feature record</a> | <a href="/medgen?term=%22Hand%20tremor%22%5BClinical%20Features%5D%20OR%2068689%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322937"><div><strong>Distal sensory impairment of all modalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322937</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.">C1836527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322937">Feature record</a> | <a href="/medgen?term=%22Distal%20sensory%20impairment%20of%20all%20modalities%22%5BClinical%20Features%5D%20OR%20322937%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335722"><div><strong>Distal sensory impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335722</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.">C1847584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in sensation in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335722">Feature record</a> | <a href="/medgen?term=%22Distal%20sensory%20impairment%22%5BClinical%20Features%5D%20OR%20335722%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336512"><div><strong>Decreased sensory nerve conduction velocity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336512</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.">C1849148</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced speed of conduction of the action potential along a sensory nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336512">Feature record</a> | <a href="/medgen?term=%22Decreased%20sensory%20nerve%20conduction%20velocity%22%5BClinical%20Features%5D%20OR%20336512%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_388130"><div><strong>Decreased motor nerve conduction velocity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388130</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.">C1858729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of decreased nerve conduction velocity that affects the motor neuron.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388130">Feature record</a> | <a href="/medgen?term=%22Decreased%20motor%20nerve%20conduction%20velocity%22%5BClinical%20Features%5D%20OR%20388130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395303"><div><strong>Decreased number of large peripheral myelinated nerve fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395303</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.">C1859606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced number of large myelinated nerve fibers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395303">Feature record</a> | <a href="/medgen?term=%22Decreased%20number%20of%20large%20peripheral%20myelinated%20nerve%20fibers%22%5BClinical%20Features%5D%20OR%20395303%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867220"><div><strong>Chronic axonal neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867220</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.">C4021578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality characterized by chronic impairment of the normal functioning of the axons.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867220">Feature record</a> | <a href="/medgen?term=%22Chronic%20axonal%20neuropathy%22%5BClinical%20Features%5D%20OR%20867220%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867225"><div><strong>Impaired distal tactile sensation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867225</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.">C4021583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867225">Feature record</a> | <a href="/medgen?term=%22Impaired%20distal%20tactile%20sensation%22%5BClinical%20Features%5D%20OR%20867225%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867227"><div><strong>Impaired distal proprioception</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867227</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.">C4021585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867227">Feature record</a> | <a href="/medgen?term=%22Impaired%20distal%20proprioception%22%5BClinical%20Features%5D%20OR%20867227%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140883"><div><strong>Distal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140883</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.">C0427065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of the musculature of the distal extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140883">Feature record</a> | <a href="/medgen?term=%22Distal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20140883%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163408"><div><strong>Frequent falls</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163408</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.">C0850703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163408">Feature record</a> | <a href="/medgen?term=%22Frequent%20falls%22%5BClinical%20Features%5D%20OR%20163408%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10497"><div><strong>Osteomyelitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10497</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.">C0029443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10497">Feature record</a> | <a href="/medgen?term=%22Osteomyelitis%22%5BClinical%20Features%5D%20OR%2010497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370023"><div><strong>Foot osteomyelitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370023</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.">C4049342</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An infection of bone of the foot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370023">Feature record</a> | <a href="/medgen?term=%22Foot%20osteomyelitis%22%5BClinical%20Features%5D%20OR%201370023%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65987"><div><strong>Tongue fasciculations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65987</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.">C0239548</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fasciculations or fibrillation affecting the tongue muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65987">Feature record</a> | <a href="/medgen?term=%22Tongue%20fasciculations%22%5BClinical%20Features%5D%20OR%2065987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1648438"><div><strong>Acral ulceration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648438</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.">C4732740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648438">Feature record</a> | <a href="/medgen?term=%22Acral%20ulceration%22%5BClinical%20Features%5D%20OR%201648438%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tongue fasciculations</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoamputation of foot</a></span></li><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 the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1370023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Foot osteomyelitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteomyelitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acral ulceration</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_140883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frequent falls</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Areflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic axonal neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_388130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased motor nerve conduction velocity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395303" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased number of large peripheral myelinated nerve fibers</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336512" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased sensory nerve conduction velocity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal sensory impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322937" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal sensory impairment of all modalities</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hand tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired distal proprioception</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired distal tactile sensation</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</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=C0020071[DISCUI]&test_type=Clinical" ref="ncbi_uid=5645">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=5645" target="_blank" href="/omim/162400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1390/" ref="ncbi_uid=5645">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5645" ref="ncbi_uid=5645">V</a></span></span><span class="TLline"><a href="/medgen/5645" ref="tree=GTR&ncbi_uid=5645&link_uid=5645" title="View MedGen record for 'Hereditary sensory and autonomic neuropathy type 1'">Hereditary sensory and autonomic neuropathy type 1</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5235211[DISCUI]&test_type=Clinical" ref="ncbi_uid=1716450">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1716450" target="_blank" href="/omim/162400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1390/" ref="ncbi_uid=1716450">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1716450" ref="ncbi_uid=1716450">V</a></span></span><span class="TLline">Neuropathy, hereditary sensory and autonomic, type 1A</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/1843246" ref="tree=MeSH" title="MedGen record for Autosomal dominant hereditary sensory and autonomic neuropathy">Autosomal dominant hereditary sensory and autonomic neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/5645" ref="tree=MeSH" title="MedGen record for Hereditary sensory and autonomic neuropathy type 1">Hereditary sensory and autonomic neuropathy type 1</a></span><ul><li><span class="matched_ds">Neuropathy, hereditary sensory and autonomic, type 1A</span></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/37239332">Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paprocka J,
|
||
Jezela-Stanek A,
|
||
Śmigiel R,
|
||
Walczak A,
|
||
Mierzewska H,
|
||
Kutkowska-Kaźmierczak A,
|
||
Płoski R,
|
||
Emich-Widera E,
|
||
Steinborn B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Apr 25;14(5)
|
||
doi: 10.3390/genes14050972.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37239332" target="_blank">37239332</a><a href="/pmc/articles/PMC10217861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32347995">High glucose level as a modifier factor in CMT1A patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Secchin JB,
|
||
Leal RCC,
|
||
Lourenço CM,
|
||
Marques VD,
|
||
Nogueira PTL,
|
||
Santos ACJ,
|
||
Tomaselli PJ,
|
||
Marques W Jr</span><br />
|
||
<span class="medgenPMjournal">J Peripher Nerv Syst</span>
|
||
2020 Jun;25(2):132-137.
|
||
Epub 2020 May 12
|
||
doi: 10.1111/jns.12379.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32347995" target="_blank">32347995</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22616865">Structural, mechanistic and regulatory studies of serine palmitoyltransferase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lowther J,
|
||
Naismith JH,
|
||
Dunn TM,
|
||
Campopiano DJ</span><br />
|
||
<span class="medgenPMjournal">Biochem Soc Trans</span>
|
||
2012 Jun 1;40(3):547-54.
|
||
doi: 10.1042/BST20110769.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22616865" target="_blank">22616865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19250380">Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suriu C,
|
||
Khayat M,
|
||
Weiler M,
|
||
Kfir N,
|
||
Cohen C,
|
||
Zinger A,
|
||
Aslanidis C,
|
||
Schmitz G,
|
||
Falik-Zaccai TC</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2009 Mar;75(3):230-6.
|
||
doi: 10.1111/j.1399-0004.2008.01143.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19250380" target="_blank">19250380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17130202">Early involvement of the spinal cord in diabetic peripheral neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selvarajah D,
|
||
Wilkinson ID,
|
||
Emery CJ,
|
||
Harris ND,
|
||
Shaw PJ,
|
||
Witte DR,
|
||
Griffiths PD,
|
||
Tesfaye S</span><br />
|
||
<span class="medgenPMjournal">Diabetes Care</span>
|
||
2006 Dec;29(12):2664-9.
|
||
doi: 10.2337/dc06-0650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17130202" target="_blank">17130202</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neuropathy%2C%20hereditary%20sensory%20and%20autonomic%2C%20type%201A%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36964315">Spectrum of SPTLC1-related disorders: a novel case of 'Ser331 syndrome' that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenzoni PJ,
|
||
Bayer DL,
|
||
Ducci RD,
|
||
Fustes OJH,
|
||
do Vale Pascoal Rodrigues PR,
|
||
Werneck LC,
|
||
Kay CSK,
|
||
Scola RH</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Jul;44(7):2551-2554.
|
||
Epub 2023 Mar 24
|
||
doi: 10.1007/s10072-023-06763-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36964315" target="_blank">36964315</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34500535">Familial Amyloidotic Polyneuropathy Type 1: A Hereditary Legacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinto J,
|
||
Almeida P,
|
||
Pereira F,
|
||
Cavadas S</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2021 Sep;31(9):1117-1119.
|
||
doi: 10.29271/jcpsp.2021.09.1117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34500535" target="_blank">34500535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34459874">Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson JO,
|
||
Chia R,
|
||
Miller DE,
|
||
Li R,
|
||
Kumaran R,
|
||
Abramzon Y,
|
||
Alahmady N,
|
||
Renton AE,
|
||
Topp SD,
|
||
Gibbs JR,
|
||
Cookson MR,
|
||
Sabir MS,
|
||
Dalgard CL,
|
||
Troakes C,
|
||
Jones AR,
|
||
Shatunov A,
|
||
Iacoangeli A,
|
||
Al Khleifat A,
|
||
Ticozzi N,
|
||
Silani V,
|
||
Gellera C,
|
||
Blair IP,
|
||
Dobson-Stone C,
|
||
Kwok JB,
|
||
Bonkowski ES,
|
||
Palvadeau R,
|
||
Tienari PJ,
|
||
Morrison KE,
|
||
Shaw PJ,
|
||
Al-Chalabi A,
|
||
Brown RH Jr,
|
||
Calvo A,
|
||
Mora G,
|
||
Al-Saif H,
|
||
Gotkine M,
|
||
Leigh F,
|
||
Chang IJ,
|
||
Perlman SJ,
|
||
Glass I,
|
||
Scott AI,
|
||
Shaw CE,
|
||
Basak AN,
|
||
Landers JE,
|
||
Chiò A,
|
||
Crawford TO,
|
||
Smith BN,
|
||
Traynor BJ;
|
||
FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium,
|
||
Smith BN,
|
||
Ticozzi N,
|
||
Fallini C,
|
||
Gkazi AS,
|
||
Topp SD,
|
||
Scotter EL,
|
||
Kenna KP,
|
||
Keagle P,
|
||
Tiloca C,
|
||
Vance C,
|
||
Troakes C,
|
||
Colombrita C,
|
||
King A,
|
||
Pensato V,
|
||
Castellotti B,
|
||
Baas F,
|
||
Ten Asbroek ALMA,
|
||
McKenna-Yasek D,
|
||
McLaughlin RL,
|
||
Polak M,
|
||
Asress S,
|
||
Esteban-Pérez J,
|
||
Stevic Z,
|
||
D'Alfonso S,
|
||
Mazzini L,
|
||
Comi GP,
|
||
Del Bo R,
|
||
Ceroni M,
|
||
Gagliardi S,
|
||
Querin G,
|
||
Bertolin C,
|
||
van Rheenen W,
|
||
Rademakers R,
|
||
van Blitterswijk M,
|
||
Lauria G,
|
||
Duga S,
|
||
Corti S,
|
||
Cereda C,
|
||
Corrado L,
|
||
Sorarù G,
|
||
Williams KL,
|
||
Nicholson GA,
|
||
Blair IP,
|
||
Leblond-Manry C,
|
||
Rouleau GA,
|
||
Hardiman O,
|
||
Morrison KE,
|
||
Veldink JH,
|
||
van den Berg LH,
|
||
Al-Chalabi A,
|
||
Pall H,
|
||
Shaw PJ,
|
||
Turner MR,
|
||
Talbot K,
|
||
Taroni F,
|
||
García-Redondo A,
|
||
Wu Z,
|
||
Glass JD,
|
||
Gellera C,
|
||
Ratti A,
|
||
Brown RH Jr,
|
||
Silani V,
|
||
Shaw CE,
|
||
Landers JE,
|
||
Dalgard CL,
|
||
Adeleye A,
|
||
Soltis AR,
|
||
Alba C,
|
||
Viollet C,
|
||
Bacikova D,
|
||
Hupalo DN,
|
||
Sukumar G,
|
||
Pollard HB,
|
||
Wilkerson MD,
|
||
Martinez EM,
|
||
Abramzon Y,
|
||
Ahmed S,
|
||
Arepalli S,
|
||
Baloh RH,
|
||
Bowser R,
|
||
Brady CB,
|
||
Brice A,
|
||
Broach J,
|
||
Campbell RH,
|
||
Camu W,
|
||
Chia R,
|
||
Cooper-Knock J,
|
||
Ding J,
|
||
Drepper C,
|
||
Drory VE,
|
||
Dunckley TL,
|
||
Eicher JD,
|
||
England BK,
|
||
Faghri F,
|
||
Feldman E,
|
||
Floeter MK,
|
||
Fratta P,
|
||
Geiger JT,
|
||
Gerhard G,
|
||
Gibbs JR,
|
||
Gibson SB,
|
||
Glass JD,
|
||
Hardy J,
|
||
Harms MB,
|
||
Heiman-Patterson TD,
|
||
Hernandez DG,
|
||
Jansson L,
|
||
Kirby J,
|
||
Kowall NW,
|
||
Laaksovirta H,
|
||
Landeck N,
|
||
Landi F,
|
||
Le Ber I,
|
||
Lumbroso S,
|
||
MacGowan DJL,
|
||
Maragakis NJ,
|
||
Mora G,
|
||
Mouzat K,
|
||
Murphy NA,
|
||
Myllykangas L,
|
||
Nalls MA,
|
||
Orrell RW,
|
||
Ostrow LW,
|
||
Pamphlett R,
|
||
Pickering-Brown S,
|
||
Pioro EP,
|
||
Pletnikova O,
|
||
Pliner HA,
|
||
Pulst SM,
|
||
Ravits JM,
|
||
Renton AE,
|
||
Rivera A,
|
||
Robberecht W,
|
||
Rogaeva E,
|
||
Rollinson S,
|
||
Rothstein JD,
|
||
Scholz SW,
|
||
Sendtner M,
|
||
Shaw PJ,
|
||
Sidle KC,
|
||
Simmons Z,
|
||
Singleton AB,
|
||
Smith N,
|
||
Stone DJ,
|
||
Tienari PJ,
|
||
Troncoso JC,
|
||
Valori M,
|
||
Van Damme P,
|
||
Van Deerlin VM,
|
||
Van Den Bosch L,
|
||
Zinman L,
|
||
Landers JE,
|
||
Chiò A,
|
||
Traynor BJ,
|
||
Angelocola SM,
|
||
Ausiello FP,
|
||
Barberis M,
|
||
Bartolomei I,
|
||
Battistini S,
|
||
Bersano E,
|
||
Bisogni G,
|
||
Borghero G,
|
||
Brunetti M,
|
||
Cabona C,
|
||
Calvo A,
|
||
Canale F,
|
||
Canosa A,
|
||
Cantisani TA,
|
||
Capasso M,
|
||
Caponnetto C,
|
||
Cardinali P,
|
||
Carrera P,
|
||
Casale F,
|
||
Chiò A,
|
||
Colletti T,
|
||
Conforti FL,
|
||
Conte A,
|
||
Conti E,
|
||
Corbo M,
|
||
Cuccu S,
|
||
Dalla Bella E,
|
||
D'Errico E,
|
||
DeMarco G,
|
||
Dubbioso R,
|
||
Ferrarese C,
|
||
Ferraro PM,
|
||
Filippi M,
|
||
Fini N,
|
||
Floris G,
|
||
Fuda G,
|
||
Gallone S,
|
||
Gianferrari G,
|
||
Giannini F,
|
||
Grassano M,
|
||
Greco L,
|
||
Iazzolino B,
|
||
Introna A,
|
||
La Bella V,
|
||
Lattante S,
|
||
Lauria G,
|
||
Liguori R,
|
||
Logroscino G,
|
||
Logullo FO,
|
||
Lunetta C,
|
||
Mandich P,
|
||
Mandrioli J,
|
||
Manera U,
|
||
Manganelli F,
|
||
Marangi G,
|
||
Marinou K,
|
||
Marrosu MG,
|
||
Martinelli I,
|
||
Messina S,
|
||
Moglia C,
|
||
Mora G,
|
||
Mosca L,
|
||
Murru MR,
|
||
Origone P,
|
||
Passaniti C,
|
||
Petrelli C,
|
||
Petrucci A,
|
||
Pozzi S,
|
||
Pugliatti M,
|
||
Quattrini A,
|
||
Ricci C,
|
||
Riolo G,
|
||
Riva N,
|
||
Russo M,
|
||
Sabatelli M,
|
||
Salamone P,
|
||
Salivetto M,
|
||
Salvi F,
|
||
Santarelli M,
|
||
Sbaiz L,
|
||
Sideri R,
|
||
Simone I,
|
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<div class="nl"><a target="_blank" href="/pubmed/11140948">Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/3478158">Quantitative detection of a variant prealbumin associated with type 1 familial amyloidotic polyneuropathy (Japanese type) by high performance liquid chromatography.</a></div>
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2021 Oct 1;78(10):1236-1248.
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doi: 10.1001/jamaneurol.2021.2598.
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<span class="bold">PMID: </span><a href="/pubmed/34459874" target="_blank">34459874</a><a href="/pmc/articles/PMC8406220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32347995">High glucose level as a modifier factor in CMT1A patients.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/32347995" target="_blank">32347995</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17130202">Early involvement of the spinal cord in diabetic peripheral neuropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Selvarajah D,
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Wilkinson ID,
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Emery CJ,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neuropathy%2C%20hereditary%20sensory%20and%20autonomic%2C%20type%201A%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 (4)</a></div></div>
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</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">
|
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<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 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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5235211%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C5235211%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5235211%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C5235211%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5235211%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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</ul></div>
|
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=162400" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Neuropathy,%20hereditary%20sensory%20and%20autonomic,%20type%201A" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<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=605712" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=10558[geneid]" target="_blank">View SPTLC1 variations in ClinVar</a></li><li><a href="/nuccore/189303555" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=162400" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d54cb3cde49f3df7b2e532">Neuropathy, hereditary sensory and autonomic, type 1A</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d54c9d2f30673f7bcbf83d">Table 2. [SPTLC1 Pathogenic Variants Discussed in This GeneReview]. - GeneReview...</a>
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<div class="ralinkpop offscreen_noflow">Table 2. [SPTLC1 Pathogenic Variants Discussed in This GeneReview]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d54c9c2f30673f7bcbf39f">Table B. [OMIM Entries for SPTLC1-Related Hereditary Sensory Neuropathy (View Al...</a>
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<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for SPTLC1-Related Hereditary Sensory Neuropathy (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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