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<meta name="keywords" content="C4540559, disease or syndrome, familial steroid-resistant nephrotic syndrome with adrenal insufficiency, nephrotic syndrome 14, nephrotic syndrome, type 14, nphs14, primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency, renal, endocrine, neurologic and immune syndrome, renal, endocrine, neurologic, and immune syndrome, reni, reni syndrome, sgpl1, sgpl1 deficiency, steroid-resistant nephrotic syndrome type 14, sphingosine phosphate lyase insufficiency syndrome, splis, 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="Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is characterized by varying combinations of steroid-resistant nephrotic syndrome (ranging from nonimmune fetal hydrops to adolescent onset), primary adrenal insufficiency (with or without mineralocorticoid deficiency), testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia/immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1617660
|
||
ConceptID=C4540559
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Nephrotic syndrome 14<span class="h1sub">(NPHS14; SPLIS; RENI)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1617660</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:">C4540559</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>RENAL, ENDOCRINE, NEUROLOGIC, AND IMMUNE SYNDROME; RENI SYNDROME</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="SGPL1 - ID: 8879 - NCBI Gene" href="/gene/8879" class="medgenPMinfo">SGPL1</a> (10q22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033203" target="_blank">MONDO:0033203</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617575" target="_blank">617575</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=506334">ORPHA506334</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK562988" target="_blank">Sphingosine Phosphate Lyase Insufficiency Syndrome</a></div><div>Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is characterized by varying combinations of steroid-resistant nephrotic syndrome (ranging from nonimmune fetal hydrops to adolescent onset), primary adrenal insufficiency (with or without mineralocorticoid deficiency), testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia/immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy. [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/NBK562988#sgpl1.Summary" target="NBK562988">Summary</a> | <a class="medgenPMinfo" href="/books/NBK562988#sgpl1.Diagnosis" target="NBK562988">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK562988#sgpl1.Clinical_Characteristics" target="NBK562988">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK562988#sgpl1.Genetically_Related_Allelic_Disord" target="NBK562988">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK562988#sgpl1.Differential_Diagnosis" target="NBK562988">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK562988#sgpl1.Management" target="NBK562988">Management</a> | <a class="medgenPMinfo" href="/books/NBK562988#sgpl1.Genetic_Counseling" target="NBK562988">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK562988#sgpl1.Resources" target="NBK562988">Resources</a> | <a class="medgenPMinfo" href="/books/NBK562988#sgpl1.Molecular_Genetics" target="NBK562988">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK562988#sgpl1.Chapter_Notes" target="NBK562988">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK562988#sgpl1.References" target="NBK562988">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Kathryn Nicole Weaver | Bonnie Sullivan | Friedhelm Hildebrandt<i>, et. al.</i> <a href="/books/NBK562988" target="NBK562988" title="NCBI Bookshelf: Sphingosine Phosphate Lyase Insufficiency Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />RENI syndrome (RENI) is an autosomal recessive form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS), resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder may include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects. In rare cases, patients present with isolated primary adrenal insufficiency (summary by Prasad et al., 2017; Lovric et al., 2017; Yang et al., 2023).
|
||
For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). <a target="_blank" href="http://www.omim.org/entry/617575">http://www.omim.org/entry/617575</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_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</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.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4904"><div><strong>Focal segmental glomerulosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4904</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.">C0017668</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Segmental accumulation of scar tissue in individual (but not all) glomeruli.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4904">Feature record</a> | <a href="/medgen?term=%22Focal%20segmental%20glomerulosclerosis%22%5BClinical%20Features%5D%20OR%204904%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10308"><div><strong>Nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10308</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.">C0027726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10308">Feature record</a> | <a href="/medgen?term=%22Nephrotic%20syndrome%22%5BClinical%20Features%5D%20OR%2010308%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78698"><div><strong>Diffuse mesangial sclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78698</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.">C0268747</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78698">Feature record</a> | <a href="/medgen?term=%22Diffuse%20mesangial%20sclerosis%22%5BClinical%20Features%5D%20OR%2078698%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_588369"><div><strong>Steroid-resistant nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>588369</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.">C0403397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/588369">Feature record</a> | <a href="/medgen?term=%22Steroid-resistant%20nephrotic%20syndrome%22%5BClinical%20Features%5D%20OR%20588369%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_384526"><div><strong>Stage 5 chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384526</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.">C2316810</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384526">Feature record</a> | <a href="/medgen?term=%22Stage%205%20chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20384526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_481733"><div><strong>Podocyte foot process effacement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481733</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.">C3280103</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481733">Feature record</a> | <a href="/medgen?term=%22Podocyte%20foot%20process%20effacement%22%5BClinical%20Features%5D%20OR%20481733%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_924090"><div><strong>Mesangial hypercellularity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924090</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.">C4281741</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924090">Feature record</a> | <a href="/medgen?term=%22Mesangial%20hypercellularity%22%5BClinical%20Features%5D%20OR%20924090%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1633603"><div><strong>Micropenis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633603</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.">C4551492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1633603">Feature record</a> | <a href="/medgen?term=%22Micropenis%22%5BClinical%20Features%5D%20OR%201633603%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_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_18386"><div><strong>Peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18386</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.">C0031117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18386">Feature record</a> | <a href="/medgen?term=%22Peripheral%20neuropathy%22%5BClinical%20Features%5D%20OR%2018386%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</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.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7418"><div><strong>Lymphopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7418</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.">C0024312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced number of lymphocytes in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7418">Feature record</a> | <a href="/medgen?term=%22Lymphopenia%22%5BClinical%20Features%5D%20OR%207418%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4451"><div><strong>Edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4451</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.">C0013604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4451">Feature record</a> | <a href="/medgen?term=%22Edema%22%5BClinical%20Features%5D%20OR%204451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</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.">C0020615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased concentration of glucose in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68694"><div><strong>Hypoalbuminemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68694</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.">C0239981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction in the concentration of albumin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68694">Feature record</a> | <a href="/medgen?term=%22Hypoalbuminemia%22%5BClinical%20Features%5D%20OR%2068694%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_167238"><div><strong>Hypertriglyceridemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167238</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.">C0813230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in the level of triglycerides in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167238">Feature record</a> | <a href="/medgen?term=%22Hypertriglyceridemia%22%5BClinical%20Features%5D%20OR%20167238%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7002"><div><strong>Ichthyosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7002</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.">C0020757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7002">Feature record</a> | <a href="/medgen?term=%22Ichthyosis%22%5BClinical%20Features%5D%20OR%207002%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57992"><div><strong>Hyperpigmentation of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57992</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A darkening of the skin related to an increase in melanin production and deposition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57992">Feature record</a> | <a href="/medgen?term=%22Hyperpigmentation%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%2057992%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1351"><div><strong>Adrenal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1351</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.">C0001623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1351">Feature record</a> | <a href="/medgen?term=%22Adrenal%20insufficiency%22%5BClinical%20Features%5D%20OR%201351%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5711"><div><strong>Hypogonadism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5711</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.">C0020619</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased functionality of the gonad.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5711">Feature record</a> | <a href="/medgen?term=%22Hypogonadism%22%5BClinical%20Features%5D%20OR%205711%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6991"><div><strong>Hypothyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6991</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.">C0020676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deficiency of thyroid hormone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6991">Feature record</a> | <a href="/medgen?term=%22Hypothyroidism%22%5BClinical%20Features%5D%20OR%206991%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</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.">C0005745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Edema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertriglyceridemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoalbuminemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenal insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypothyroidism</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_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diffuse mesangial sclerosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal segmental glomerulosclerosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_924090" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mesangial hypercellularity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1633603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micropenis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrotic syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_481733" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Podocyte foot process effacement</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stage 5 chronic kidney disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_588369" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steroid-resistant nephrotic syndrome</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_7418" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperpigmentation of the skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ichthyosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</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_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_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4540559[DISCUI]&test_type=Clinical" ref="ncbi_uid=1617660">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1617660" target="_blank" href="/omim/603729">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK562988/" ref="ncbi_uid=1617660">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1617660" ref="ncbi_uid=1617660">V</a></span></span><span class="TLline">Nephrotic syndrome 14</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843236" ref="tree=MeSH" title="MedGen record for Disorder of phospholipids, sphingolipids and fatty acids biosynthesis">Disorder of phospholipids, sphingolipids and fatty acids biosynthesis</a></span><ul><li><span class="matched_ds">Nephrotic syndrome 14</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29176657">Dyslipidaemia in nephrotic syndrome: mechanisms and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agrawal S,
|
||
Zaritsky JJ,
|
||
Fornoni A,
|
||
Smoyer WE</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2018 Jan;14(1):57-70.
|
||
Epub 2017 Nov 27
|
||
doi: 10.1038/nrneph.2017.155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29176657" target="_blank">29176657</a><a href="/pmc/articles/PMC5770189" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10955924">Management of steroid-responsive nephrotic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niaudet P,
|
||
Broyer M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2000 Aug;14(8-9):770-1.
|
||
doi: 10.1007/pl00013434.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10955924" target="_blank">10955924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7686690">FK 506: a novel immunosuppressant for treatment of autoimmune disease. Rationale and preliminary clinical experience at the University of Pittsburgh.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomson AW,
|
||
Carroll PB,
|
||
McCauley J,
|
||
Woo J,
|
||
Abu-Elmagd K,
|
||
Starzl TE,
|
||
Van Thiel DH</span><br />
|
||
<span class="medgenPMjournal">Springer Semin Immunopathol</span>
|
||
1993;14(4):323-44.
|
||
doi: 10.1007/BF00192307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7686690" target="_blank">7686690</a><a href="/pmc/articles/PMC2966151" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(nephrotic%20syndrome%2014)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (109)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37777061">Ofatumumab in Rituximab-Resistant and Rituximab-Intolerant Patients With Primary Membranous Nephropathy: A Case Series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Podestà MA,
|
||
Trillini M,
|
||
Portalupi V,
|
||
Gennarini A,
|
||
Tomatis F,
|
||
Villa A,
|
||
Perna A,
|
||
Rubis N,
|
||
Remuzzi G,
|
||
Ruggenenti P</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2024 Mar;83(3):340-349.e1.
|
||
Epub 2023 Sep 29
|
||
doi: 10.1053/j.ajkd.2023.08.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37777061" target="_blank">37777061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38283353">Causal relationship between gut microbiota and kidney diseases: a two-sample Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng Z,
|
||
Zhang Y,
|
||
Lai Y,
|
||
Jia C,
|
||
Wu F,
|
||
Chen D</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1277554.
|
||
Epub 2024 Jan 12
|
||
doi: 10.3389/fimmu.2023.1277554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38283353" target="_blank">38283353</a><a href="/pmc/articles/PMC10811222" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30410657">Venous Thrombosis in Nephrotic Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharp W,
|
||
Olivero JJ</span><br />
|
||
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
|
||
2018 Jul-Sep;14(3):237-238.
|
||
doi: 10.14797/mdcj-14-3-237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30410657" target="_blank">30410657</a><a href="/pmc/articles/PMC6217559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29176657">Dyslipidaemia in nephrotic syndrome: mechanisms and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agrawal S,
|
||
Zaritsky JJ,
|
||
Fornoni A,
|
||
Smoyer WE</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2018 Jan;14(1):57-70.
|
||
Epub 2017 Nov 27
|
||
doi: 10.1038/nrneph.2017.155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29176657" target="_blank">29176657</a><a href="/pmc/articles/PMC5770189" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8418449">Nephrotic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelsch RC,
|
||
Sedman AB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
1993 Jan;14(1):30-8.
|
||
doi: 10.1542/pir.14-1-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8418449" target="_blank">8418449</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2014%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 (1048)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37996443">The extrafollicular B cell response is a hallmark of childhood idiopathic nephrotic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Aubodah TA,
|
||
Aoudjit L,
|
||
Pascale G,
|
||
Perinpanayagam MA,
|
||
Langlais D,
|
||
Bitzan M,
|
||
Samuel SM,
|
||
Piccirillo CA,
|
||
Takano T</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2023 Nov 24;14(1):7682.
|
||
doi: 10.1038/s41467-023-43504-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37996443" target="_blank">37996443</a><a href="/pmc/articles/PMC10667257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37503337">State of the art in childhood nephrotic syndrome: concrete discoveries and unmet needs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vincenti F,
|
||
Angeletti A,
|
||
Ghiggeri GM</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1167741.
|
||
Epub 2023 Jul 12
|
||
doi: 10.3389/fimmu.2023.1167741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37503337" target="_blank">37503337</a><a href="/pmc/articles/PMC10368981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37235672">Nephrotic syndrome: delays in diagnosis and a cause of pulmonary embolism not to miss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wright F,
|
||
Gilchrist M</span><br />
|
||
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
|
||
2023 May 2;84(5):1-4.
|
||
Epub 2023 May 22
|
||
doi: 10.12968/hmed.2023.0011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37235672" target="_blank">37235672</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30410657">Venous Thrombosis in Nephrotic Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharp W,
|
||
Olivero JJ</span><br />
|
||
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
|
||
2018 Jul-Sep;14(3):237-238.
|
||
doi: 10.14797/mdcj-14-3-237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30410657" target="_blank">30410657</a><a href="/pmc/articles/PMC6217559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8418449">Nephrotic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelsch RC,
|
||
Sedman AB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
1993 Jan;14(1):30-8.
|
||
doi: 10.1542/pir.14-1-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8418449" target="_blank">8418449</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2014%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 (840)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38283353">Causal relationship between gut microbiota and kidney diseases: a two-sample Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng Z,
|
||
Zhang Y,
|
||
Lai Y,
|
||
Jia C,
|
||
Wu F,
|
||
Chen D</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1277554.
|
||
Epub 2024 Jan 12
|
||
doi: 10.3389/fimmu.2023.1277554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38283353" target="_blank">38283353</a><a href="/pmc/articles/PMC10811222" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37996443">The extrafollicular B cell response is a hallmark of childhood idiopathic nephrotic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Aubodah TA,
|
||
Aoudjit L,
|
||
Pascale G,
|
||
Perinpanayagam MA,
|
||
Langlais D,
|
||
Bitzan M,
|
||
Samuel SM,
|
||
Piccirillo CA,
|
||
Takano T</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2023 Nov 24;14(1):7682.
|
||
doi: 10.1038/s41467-023-43504-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37996443" target="_blank">37996443</a><a href="/pmc/articles/PMC10667257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37503337">State of the art in childhood nephrotic syndrome: concrete discoveries and unmet needs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vincenti F,
|
||
Angeletti A,
|
||
Ghiggeri GM</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1167741.
|
||
Epub 2023 Jul 12
|
||
doi: 10.3389/fimmu.2023.1167741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37503337" target="_blank">37503337</a><a href="/pmc/articles/PMC10368981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30410657">Venous Thrombosis in Nephrotic Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharp W,
|
||
Olivero JJ</span><br />
|
||
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
|
||
2018 Jul-Sep;14(3):237-238.
|
||
doi: 10.14797/mdcj-14-3-237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30410657" target="_blank">30410657</a><a href="/pmc/articles/PMC6217559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29176657">Dyslipidaemia in nephrotic syndrome: mechanisms and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agrawal S,
|
||
Zaritsky JJ,
|
||
Fornoni A,
|
||
Smoyer WE</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2018 Jan;14(1):57-70.
|
||
Epub 2017 Nov 27
|
||
doi: 10.1038/nrneph.2017.155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29176657" target="_blank">29176657</a><a href="/pmc/articles/PMC5770189" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2014%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 (894)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34174365">Combination of Rituximab, Low-Dose Cyclophosphamide, and Prednisone for Primary Membranous Nephropathy: A Case Series With Extended Follow Up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zonozi R,
|
||
Laliberte K,
|
||
Huizenga NR,
|
||
Rosenthal JK,
|
||
Jeyabalan A,
|
||
Collins AB,
|
||
Cortazar FB,
|
||
Niles JL</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Dec;78(6):793-803.
|
||
Epub 2021 Jun 24
|
||
doi: 10.1053/j.ajkd.2021.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34174365" target="_blank">34174365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32611588">Recommended physical activity and all cause and cause specific mortality in US adults: prospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao M,
|
||
Veeranki SP,
|
||
Magnussen CG,
|
||
Xi B</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2020 Jul 1;370:m2031.
|
||
doi: 10.1136/bmj.m2031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32611588" target="_blank">32611588</a><a href="/pmc/articles/PMC7328465" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27352623">Rituximab for Severe Membranous Nephropathy: A 6-Month Trial with Extended Follow-Up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dahan K,
|
||
Debiec H,
|
||
Plaisier E,
|
||
Cachanado M,
|
||
Rousseau A,
|
||
Wakselman L,
|
||
Michel PA,
|
||
Mihout F,
|
||
Dussol B,
|
||
Matignon M,
|
||
Mousson C,
|
||
Simon T,
|
||
Ronco P;
|
||
GEMRITUX Study Group</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2017 Jan;28(1):348-358.
|
||
Epub 2016 Jun 27
|
||
doi: 10.1681/ASN.2016040449.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27352623" target="_blank">27352623</a><a href="/pmc/articles/PMC5198292" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15732294">Lupus nephritis in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perfumo F,
|
||
Martini A</span><br />
|
||
<span class="medgenPMjournal">Lupus</span>
|
||
2005;14(1):83-8.
|
||
doi: 10.1191/0961203305lu2065oa.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15732294" target="_blank">15732294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15026863">Denys-Drash syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin HC,
|
||
Lin SK,
|
||
Wen MC,
|
||
Tseng CF,
|
||
Fu LS,
|
||
Chi CS</span><br />
|
||
<span class="medgenPMjournal">J Formos Med Assoc</span>
|
||
2004 Jan;103(1):71-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15026863" target="_blank">15026863</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2014%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 (648)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39143823">Association between hypothyroidism and nephrotic syndrome: a bidirectional two-sample Mendelian randomization analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu C,
|
||
Shen J,
|
||
Ding Z,
|
||
Duan S,
|
||
Dai E</span><br />
|
||
<span class="medgenPMjournal">Ren Fail</span>
|
||
2024 Dec;46(2):2390558.
|
||
Epub 2024 Aug 14
|
||
doi: 10.1080/0886022X.2024.2390558.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39143823" target="_blank">39143823</a><a href="/pmc/articles/PMC11328803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38283353">Causal relationship between gut microbiota and kidney diseases: a two-sample Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng Z,
|
||
Zhang Y,
|
||
Lai Y,
|
||
Jia C,
|
||
Wu F,
|
||
Chen D</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1277554.
|
||
Epub 2024 Jan 12
|
||
doi: 10.3389/fimmu.2023.1277554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38283353" target="_blank">38283353</a><a href="/pmc/articles/PMC10811222" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37731504">Single-cell RNA sequencing shows the immune cell landscape in the kidneys of patients with idiopathic membranous nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi M,
|
||
Wang Y,
|
||
Zhang H,
|
||
Ling Z,
|
||
Chen X,
|
||
Wang C,
|
||
Liu J,
|
||
Ma Y</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1203062.
|
||
Epub 2023 Sep 4
|
||
doi: 10.3389/fimmu.2023.1203062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37731504" target="_blank">37731504</a><a href="/pmc/articles/PMC10507359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15732294">Lupus nephritis in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perfumo F,
|
||
Martini A</span><br />
|
||
<span class="medgenPMjournal">Lupus</span>
|
||
2005;14(1):83-8.
|
||
doi: 10.1191/0961203305lu2065oa.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15732294" target="_blank">15732294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9041164">Chlorambucil-induced seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salloum E,
|
||
Khan KK,
|
||
Cooper DL</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
1997 Mar 1;79(5):1009-13.
|
||
doi: 10.1002/(sici)1097-0142(19970301)79:5<1009::aid-cncr18>3.0.co;2-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9041164" target="_blank">9041164</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2014%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 (574)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37127615">Incidence of thromboembolism in children with primary nephrotic syndrome: a systematic review and metaanalysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Tang HY,
|
||
Lin Q,
|
||
Li XZ</span><br />
|
||
<span class="medgenPMjournal">BMC Nephrol</span>
|
||
2023 May 1;24(1):120.
|
||
doi: 10.1186/s12882-023-03160-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37127615" target="_blank">37127615</a><a href="/pmc/articles/PMC10150676" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36853224">Interventions for preventing and treating kidney disease in IgA vasculitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn D,
|
||
Hodson EM,
|
||
Craig JC</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Feb 28;2(2):CD005128.
|
||
doi: 10.1002/14651858.CD005128.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36853224" target="_blank">36853224</a><a href="/pmc/articles/PMC9972777" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36371483">Sphingosine phosphate lyase insufficiency syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pournasiri Z,
|
||
Madani A,
|
||
Nazarpack F,
|
||
Sayer JA,
|
||
Chavoshzadeh Z,
|
||
Nili F,
|
||
Tran P,
|
||
Saba JD,
|
||
Jamee M</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2023 May;19(5):425-437.
|
||
Epub 2022 Nov 12
|
||
doi: 10.1007/s12519-022-00615-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36371483" target="_blank">36371483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36127405">Childhood nephrotic syndrome and the clinical profile of thromboembolism: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dadgar K,
|
||
Xue Y,
|
||
Chung J,
|
||
Sangar S,
|
||
Bhatt M,
|
||
Chan AKC,
|
||
Geddie H,
|
||
Chanchlani R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2023 May;93(6):1463-1469.
|
||
Epub 2022 Sep 20
|
||
doi: 10.1038/s41390-022-02302-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36127405" target="_blank">36127405</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35224732">Interventions for focal segmental glomerulosclerosis in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hodson EM,
|
||
Sinha A,
|
||
Cooper TE</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Feb 28;2(2):CD003233.
|
||
doi: 10.1002/14651858.CD003233.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35224732" target="_blank">35224732</a><a href="/pmc/articles/PMC8883337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2014%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (22)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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||
</div>
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<div class=" bottom">
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</div>
|
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|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4540559%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540559%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540559%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540559%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4540559%5bDISCUI%5d" target="_blank">See all (18)</a></total></li>
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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=617575" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=506334" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Nephrotic%20syndrome%2014" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(nephrotic%20syndrome%2014)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=603729" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=8879[geneid]" target="_blank">View SGPL1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=617575" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/reni_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Nephrotic%20syndrome%2014" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/13818/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
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|
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<div class="portlet_head">
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<h3>Reviews</h3>
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<ul>
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<li>
|
||
<a href="/pubmed/33074640" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Nephrotic%20syndrome%2014" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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</li>
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<li>
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<a href="/pubmed?term=Nephrotic%20syndrome%2014%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
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|
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||
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|
||
|
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1617660" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1617660" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4540559[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4540559[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1617660" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1617660" ref="log$=recordlinks">PMC Articles</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1617660" ref="log$=recordlinks">PubMed</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1617660" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1617660" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc45cef4a390645ecacdba">Nephrotic syndrome 14</a>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc45ccb15b832ebc80e572">C4540559[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc45cba68b6b5afcfcd4aa">C2931187[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(105)</span></a>
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<div class="ralinkpop offscreen_noflow">C2931187[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc45ca84f3725e59c51eac">C5561953[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(2)</span></a>
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<div class="ralinkpop offscreen_noflow">C5561953[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc45c9a68b6b5afcfcd053">Nephronophthisis-like nephropathy 2</a>
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<div class="tertiary">MedGen</div>
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