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<meta name="keywords" content="C4014425, acth-independent adrenal cushing syndrome, somatic, chromosome 19p13 duplication syndrome, cushing syndrome, acth-independent adrenal, somatic, cushing syndrome, adrenal, due to ppnad4, disease or syndrome, pigmented nodular adrenocortical disease, primary, 4, pigmented nodular adrenocortical disease, primary, type 4, ppnad4, primary pigmented nodular adrenocortical disease caused by mutation in prkaca, prkaca, prkaca primary pigmented nodular adrenocortical disease, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=862862
|
||
ConceptID=C4014425
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pigmented nodular adrenocortical disease, primary, 4<span class="h1sub">(PPNAD4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862862</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:">C4014425</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>CHROMOSOME 19p13 DUPLICATION SYNDROME; CUSHING SYNDROME, ADRENAL, DUE TO PPNAD4; PPNAD4</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="PRKACA - ID: 5566 - NCBI Gene" href="/gene/5566" class="medgenPMinfo">PRKACA</a> (19p13.12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014359" target="_blank">MONDO:0014359</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615830" target="_blank">615830</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12145"><div><strong>Increased body weight</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12145</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.">C0043094</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased body weight.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12145">Feature record</a> | <a href="/medgen?term=%22Increased%20body%20weight%22%5BClinical%20Features%5D%20OR%2012145%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39319"><div><strong>Emotional lability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39319</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.">C0085633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39319">Feature record</a> | <a href="/medgen?term=%22Emotional%20lability%22%5BClinical%20Features%5D%20OR%2039319%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14535"><div><strong>Osteoporosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14535</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.">C0029456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14535">Feature record</a> | <a href="/medgen?term=%22Osteoporosis%22%5BClinical%20Features%5D%20OR%2014535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113169"><div><strong>Proximal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113169</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.">C0221629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lack of strength of the proximal muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113169">Feature record</a> | <a href="/medgen?term=%22Proximal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20113169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_152379"><div><strong>Acne</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152379</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.">C0702166</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152379">Feature record</a> | <a href="/medgen?term=%22Acne%22%5BClinical%20Features%5D%20OR%20152379%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8350"><div><strong>Diabetes mellitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8350</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.">C0011849</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A group of abnormalities characterized by hyperglycemia and glucose intolerance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8350">Feature record</a> | <a href="/medgen?term=%22Diabetes%20mellitus%22%5BClinical%20Features%5D%20OR%208350%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_568451"><div><strong>Moon facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>568451</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.">C0332601</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/568451">Feature record</a> | <a href="/medgen?term=%22Moon%20facies%22%5BClinical%20Features%5D%20OR%20568451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7982"><div><strong>Alopecia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7982</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.">C0002170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A noncongenital process of hair loss, which may progress to partial or complete baldness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7982">Feature record</a> | <a href="/medgen?term=%22Alopecia%22%5BClinical%20Features%5D%20OR%207982%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42461"><div><strong>Hirsutism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42461</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.">C0019572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42461">Feature record</a> | <a href="/medgen?term=%22Hirsutism%22%5BClinical%20Features%5D%20OR%2042461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66826"><div><strong>Fragile skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66826</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.">C0241181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Skin that splits easily with minimal injury.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66826">Feature record</a> | <a href="/medgen?term=%22Fragile%20skin%22%5BClinical%20Features%5D%20OR%2066826%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140849"><div><strong>Bruising susceptibility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140849</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.">C0423798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140849">Feature record</a> | <a href="/medgen?term=%22Bruising%20susceptibility%22%5BClinical%20Features%5D%20OR%20140849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_636070"><div><strong>Dorsocervical fat pad</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>636070</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.">C0520573</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An area of fat accumulation at the back of the neck in the form of a hump.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/636070">Feature record</a> | <a href="/medgen?term=%22Dorsocervical%20fat%20pad%22%5BClinical%20Features%5D%20OR%20636070%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_301220"><div><strong>Adrenal hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301220</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.">C1621895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the adrenal gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/301220">Feature record</a> | <a href="/medgen?term=%22Adrenal%20hyperplasia%22%5BClinical%20Features%5D%20OR%20301220%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871175"><div><strong>Increased circulating cortisol level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871175</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.">C4025651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871175">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20cortisol%20level%22%5BClinical%20Features%5D%20OR%20871175%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892570"><div><strong>Primary hypercortisolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892570</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.">C4025760</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892570">Feature record</a> | <a href="/medgen?term=%22Primary%20hypercortisolism%22%5BClinical%20Features%5D%20OR%20892570%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_568451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Moon facies</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes mellitus</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</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_301220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenal hyperplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871175" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating cortisol level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hypercortisolism</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_152379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acne</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_7982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alopecia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruising susceptibility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_636070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dorsocervical fat pad</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fragile skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hirsutism</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_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal muscle weakness</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_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39319" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emotional lability</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased body weight</a></span></li></ul></li></ul></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/26390100">Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vezzosi D,
|
||
Tenenbaum F,
|
||
Cazabat L,
|
||
Tissier F,
|
||
Bienvenu M,
|
||
Carrasco CA,
|
||
Laloi-Michelin M,
|
||
Barrande G,
|
||
Lefebvre H,
|
||
Hiéronimus S,
|
||
Tabarin A,
|
||
Bertagna X,
|
||
Legmann P,
|
||
Vantyghem MC,
|
||
Bertherat J</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2015 Nov;100(11):4332-8.
|
||
Epub 2015 Sep 21
|
||
doi: 10.1210/jc.2015-2174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26390100" target="_blank">26390100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15521956">Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Storr HL,
|
||
Mitchell H,
|
||
Swords FM,
|
||
Main KM,
|
||
Hindmarsh PC,
|
||
Betts PR,
|
||
Shaw NJ,
|
||
Johnston DI,
|
||
Clark AJ,
|
||
Reznek RH,
|
||
Grossman AB,
|
||
Savage MO</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2004 Nov;61(5):553-9.
|
||
doi: 10.1111/j.1365-2265.2004.02124.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15521956" target="_blank">15521956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8678951">Adrenalectomy for treatment of Cushing syndrome: results in 122 patients and long-term follow-up studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imai T,
|
||
Funahashi H,
|
||
Tanaka Y,
|
||
Tobinaga J,
|
||
Wada M,
|
||
Morita-Matsuyama T,
|
||
Ohiso Y,
|
||
Takagi H</span><br />
|
||
<span class="medgenPMjournal">World J Surg</span>
|
||
1996 Sep;20(7):781-6; discussion 786-7.
|
||
doi: 10.1007/s002689900119.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8678951" target="_blank">8678951</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pigmented%20nodular%20adrenocortical%20disease%2C%20primary%2C%204)%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 (3)</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/31691026">Adrenalectomy for non-neuroblastic pathology in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Traynor MD Jr,
|
||
Sada A,
|
||
Thompson GB,
|
||
Moir CR,
|
||
Bancos I,
|
||
Farley DR,
|
||
Dy BM,
|
||
Lyden ML,
|
||
Habermann EB,
|
||
McKenzie TJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2020 Feb;36(2):129-135.
|
||
Epub 2019 Nov 5
|
||
doi: 10.1007/s00383-019-04589-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31691026" target="_blank">31691026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30875328">Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Memon SS,
|
||
Thakkar K,
|
||
Patil V,
|
||
Jadhav S,
|
||
Lila AR,
|
||
Fernandes G,
|
||
Bandgar TR,
|
||
Shah NS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2019 Apr 24;32(4):391-397.
|
||
doi: 10.1515/jpem-2018-0413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30875328" target="_blank">30875328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24805858">Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carney JA,
|
||
Libé R,
|
||
Bertherat J,
|
||
Young WF</span><br />
|
||
<span class="medgenPMjournal">Am J Surg Pathol</span>
|
||
2014 Sep;38(9):1266-73.
|
||
doi: 10.1097/PAS.0000000000000220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24805858" target="_blank">24805858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20099223">Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guanà R,
|
||
Gesmundo R,
|
||
Morino M,
|
||
Matarazzo P,
|
||
Pucci A,
|
||
Pasini B,
|
||
Lala R,
|
||
Fiore L,
|
||
Repici M,
|
||
Canavese F</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2010 Jul;20(4):273-5.
|
||
Epub 2010 Jan 22
|
||
doi: 10.1055/s-0029-1243203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20099223" target="_blank">20099223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6329005">Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shenoy BV,
|
||
Carpenter PC,
|
||
Carney JA</span><br />
|
||
<span class="medgenPMjournal">Am J Surg Pathol</span>
|
||
1984 May;8(5):335-44.
|
||
doi: 10.1097/00000478-198405000-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6329005" target="_blank">6329005</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pigmented%20nodular%20adrenocortical%20disease%2C%20primary%2C%204%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30875328">Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Memon SS,
|
||
Thakkar K,
|
||
Patil V,
|
||
Jadhav S,
|
||
Lila AR,
|
||
Fernandes G,
|
||
Bandgar TR,
|
||
Shah NS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2019 Apr 24;32(4):391-397.
|
||
doi: 10.1515/jpem-2018-0413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30875328" target="_blank">30875328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25592387">MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schernthaner-Reiter MH,
|
||
Trivellin G,
|
||
Stratakis CA</span><br />
|
||
<span class="medgenPMjournal">Neuroendocrinology</span>
|
||
2016;103(1):18-31.
|
||
Epub 2015 Jan 9
|
||
doi: 10.1159/000371819.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25592387" target="_blank">25592387</a><a href="/pmc/articles/PMC4497946" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24805858">Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carney JA,
|
||
Libé R,
|
||
Bertherat J,
|
||
Young WF</span><br />
|
||
<span class="medgenPMjournal">Am J Surg Pathol</span>
|
||
2014 Sep;38(9):1266-73.
|
||
doi: 10.1097/PAS.0000000000000220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24805858" target="_blank">24805858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20099223">Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guanà R,
|
||
Gesmundo R,
|
||
Morino M,
|
||
Matarazzo P,
|
||
Pucci A,
|
||
Pasini B,
|
||
Lala R,
|
||
Fiore L,
|
||
Repici M,
|
||
Canavese F</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2010 Jul;20(4):273-5.
|
||
Epub 2010 Jan 22
|
||
doi: 10.1055/s-0029-1243203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20099223" target="_blank">20099223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16828412">Rare syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jabbour SA,
|
||
Davidovici BB,
|
||
Wolf R</span><br />
|
||
<span class="medgenPMjournal">Clin Dermatol</span>
|
||
2006 Jul-Aug;24(4):299-316.
|
||
doi: 10.1016/j.clindermatol.2006.04.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16828412" target="_blank">16828412</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pigmented%20nodular%20adrenocortical%20disease%2C%20primary%2C%204%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 (24)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32893266">Predicting the risk of cardiac myxoma in Carney complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pitsava G,
|
||
Zhu C,
|
||
Sundaram R,
|
||
Mills JL,
|
||
Stratakis CA</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Jan;23(1):80-85.
|
||
Epub 2020 Sep 7
|
||
doi: 10.1038/s41436-020-00956-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32893266" target="_blank">32893266</a><a href="/pmc/articles/PMC7796922" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30875328">Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Memon SS,
|
||
Thakkar K,
|
||
Patil V,
|
||
Jadhav S,
|
||
Lila AR,
|
||
Fernandes G,
|
||
Bandgar TR,
|
||
Shah NS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2019 Apr 24;32(4):391-397.
|
||
doi: 10.1515/jpem-2018-0413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30875328" target="_blank">30875328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27287747">Investigation for Paediatric Cushing's Syndrome Using Twenty-Four-Hour Urinary Free Cortisol Determination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro L,
|
||
Elahi S,
|
||
Riddoch F,
|
||
Perry LA,
|
||
Martin L,
|
||
Akker SA,
|
||
Monson JP,
|
||
Drake WM,
|
||
Grossman AB,
|
||
Savage MO,
|
||
Storr HL</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2016;86(1):21-6.
|
||
Epub 2016 Jun 10
|
||
doi: 10.1159/000446913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27287747" target="_blank">27287747</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24805858">Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carney JA,
|
||
Libé R,
|
||
Bertherat J,
|
||
Young WF</span><br />
|
||
<span class="medgenPMjournal">Am J Surg Pathol</span>
|
||
2014 Sep;38(9):1266-73.
|
||
doi: 10.1097/PAS.0000000000000220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24805858" target="_blank">24805858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15521956">Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Storr HL,
|
||
Mitchell H,
|
||
Swords FM,
|
||
Main KM,
|
||
Hindmarsh PC,
|
||
Betts PR,
|
||
Shaw NJ,
|
||
Johnston DI,
|
||
Clark AJ,
|
||
Reznek RH,
|
||
Grossman AB,
|
||
Savage MO</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2004 Nov;61(5):553-9.
|
||
doi: 10.1111/j.1365-2265.2004.02124.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15521956" target="_blank">15521956</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pigmented%20nodular%20adrenocortical%20disease%2C%20primary%2C%204%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35929507">Functional characteristics and research trends of PDE11A in human diseases (Review).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong G,
|
||
Lee H,
|
||
Vo TT,
|
||
Juang U,
|
||
Kwon SH,
|
||
Park J,
|
||
Park J,
|
||
Kim SH</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2022 Oct;26(4)
|
||
Epub 2022 Aug 5
|
||
doi: 10.3892/mmr.2022.12814.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35929507" target="_blank">35929507</a><a href="/pmc/articles/PMC9434997" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30875328">Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Memon SS,
|
||
Thakkar K,
|
||
Patil V,
|
||
Jadhav S,
|
||
Lila AR,
|
||
Fernandes G,
|
||
Bandgar TR,
|
||
Shah NS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2019 Apr 24;32(4):391-397.
|
||
doi: 10.1515/jpem-2018-0413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30875328" target="_blank">30875328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24805858">Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carney JA,
|
||
Libé R,
|
||
Bertherat J,
|
||
Young WF</span><br />
|
||
<span class="medgenPMjournal">Am J Surg Pathol</span>
|
||
2014 Sep;38(9):1266-73.
|
||
doi: 10.1097/PAS.0000000000000220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24805858" target="_blank">24805858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20099223">Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guanà R,
|
||
Gesmundo R,
|
||
Morino M,
|
||
Matarazzo P,
|
||
Pucci A,
|
||
Pasini B,
|
||
Lala R,
|
||
Fiore L,
|
||
Repici M,
|
||
Canavese F</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2010 Jul;20(4):273-5.
|
||
Epub 2010 Jan 22
|
||
doi: 10.1055/s-0029-1243203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20099223" target="_blank">20099223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6329005">Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shenoy BV,
|
||
Carpenter PC,
|
||
Carney JA</span><br />
|
||
<span class="medgenPMjournal">Am J Surg Pathol</span>
|
||
1984 May;8(5):335-44.
|
||
doi: 10.1097/00000478-198405000-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6329005" target="_blank">6329005</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pigmented%20nodular%20adrenocortical%20disease%2C%20primary%2C%204%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32893266">Predicting the risk of cardiac myxoma in Carney complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pitsava G,
|
||
Zhu C,
|
||
Sundaram R,
|
||
Mills JL,
|
||
Stratakis CA</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Jan;23(1):80-85.
|
||
Epub 2020 Sep 7
|
||
doi: 10.1038/s41436-020-00956-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32893266" target="_blank">32893266</a><a href="/pmc/articles/PMC7796922" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27699247">PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bram Z,
|
||
Louiset E,
|
||
Ragazzon B,
|
||
Renouf S,
|
||
Wils J,
|
||
Duparc C,
|
||
Boutelet I,
|
||
Rizk-Rabin M,
|
||
Libé R,
|
||
Young J,
|
||
Carson D,
|
||
Vantyghem MC,
|
||
Szarek E,
|
||
Martinez A,
|
||
Stratakis CA,
|
||
Bertherat J,
|
||
Lefebvre H</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2016 Sep 22;1(15):e87958.
|
||
doi: 10.1172/jci.insight.87958.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27699247" target="_blank">27699247</a><a href="/pmc/articles/PMC5033753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26390100">Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vezzosi D,
|
||
Tenenbaum F,
|
||
Cazabat L,
|
||
Tissier F,
|
||
Bienvenu M,
|
||
Carrasco CA,
|
||
Laloi-Michelin M,
|
||
Barrande G,
|
||
Lefebvre H,
|
||
Hiéronimus S,
|
||
Tabarin A,
|
||
Bertagna X,
|
||
Legmann P,
|
||
Vantyghem MC,
|
||
Bertherat J</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2015 Nov;100(11):4332-8.
|
||
Epub 2015 Sep 21
|
||
doi: 10.1210/jc.2015-2174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26390100" target="_blank">26390100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24805858">Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carney JA,
|
||
Libé R,
|
||
Bertherat J,
|
||
Young WF</span><br />
|
||
<span class="medgenPMjournal">Am J Surg Pathol</span>
|
||
2014 Sep;38(9):1266-73.
|
||
doi: 10.1097/PAS.0000000000000220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24805858" target="_blank">24805858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16189167">Molecular genetics of adrenocortical tumours, from familial to sporadic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Libé R,
|
||
Bertherat J</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2005 Oct;153(4):477-87.
|
||
doi: 10.1530/eje.1.02004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16189167" target="_blank">16189167</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pigmented%20nodular%20adrenocortical%20disease%2C%20primary%2C%204%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 (12)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4014425%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4014425%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4014425%5bDISCUI%5d" target="_blank">See all (2)</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=615830" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Pigmented%20nodular%20adrenocortical%20disease,%20primary,%204" target="_blank">ClinicalTrials.gov</a></li></ul></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=(pigmented%20nodular%20adrenocortical%20disease%2C%20primary%2C%204)%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 mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601639" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5566[geneid]" target="_blank">View PRKACA variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=615830" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/pigmented_nodular_adrenocortical_disease_primary_4" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Pigmented%20nodular%20adrenocortical%20disease,%20primary,%204" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16016/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
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<h3>Reviews</h3>
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<ul>
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<li>
|
||
<a href="/pubmed/clinical?term=Pigmented%20nodular%20adrenocortical%20disease,%20primary,%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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</li>
|
||
<li>
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||
<a href="/pubmed?term=Pigmented%20nodular%20adrenocortical%20disease,%20primary,%204%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
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|
||
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|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
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<h3>Related information</h3>
|
||
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|
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||
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||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=862862" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=862862" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4014425[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4014425[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=862862" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=862862" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=862862" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=862862" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=862862" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
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|
||
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|
||
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|
||
|
||
|
||
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|
||
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|
||
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<h3>Recent activity</h3>
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|
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<div class="action">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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|
||
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|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc49ab84f3725e59d8e3e1">Pigmented nodular adrenocortical disease, primary, 4</a>
|
||
<div class="ralinkpop offscreen_noflow">Pigmented nodular adrenocortical disease, primary, 4<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc49a9b15b832ebc948e1b">C1864851[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(1)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C1864851[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc49a984f3725e59d8de83">C4014425[conceptid] <span class="number">(1)</span></a>
|
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