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<meta name="keywords" content="C0162565, acute intermittent porphyria, acute intermittent porphyrias, acute porphyria, acute porphyrias, aip, aip - acute intermittent porphyria, disease or syndrome, hmbs, hmbs deficiency, hydroxymethylbilane synthase deficiency, intermittent acute porphyria, intermittent acute porphyria syndrome, intermittent porphyria, acute, intermittent porphyrias, acute, pbgd deficiency, porphobilinogen deaminase deficiency, porphyria intermittent acute, porphyria, acute, porphyria, acute intermittent, porphyria, acute intermittent, nonerythroid variant, porphyria, chester type, porphyria, swedish type, porphyrias, acute, porphyrias, acute intermittent, pyrroloporphyria, swedish porphyria, ups deficiency, uroporphyrinogen synthase deficiency, 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="An acute porphyria attack is characterized by a urine porphobilinogen (PBG)-to-creatinine ratio =10 times the upper limit of normal (ULN) and the presence of =2 porphyria manifestations (involving the visceral, peripheral, autonomic, and/or central nervous systems) persisting for &gt;24 hours in the absence of other likely explanations. Onset of acute attacks typically occurs in the second or third decade of life. Acute attacks are more common in women than men. Although attacks in most individuals are typically caused by exposure to certain endogenous or exogenous factors, often no precipitating factor can be identified. The course of acute porphyria attacks is highly variable in an individual and between individuals. Recovery from acute porphyria attacks may occur within days; however, recovery from severe attacks that are not promptly recognized and treated may take weeks or months. The five categories of acute intermittent porphyria (AIP), caused by a heterozygous HMBS pathogenic variant, are based on the urine PBG-to-creatinine ratio and occurrence of acute attacks. Active (symptomatic) AIP: An individual who has experienced at least one acute attack within the last two years. Symptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years but chronic long-standing manifestations of acute porphyria. Asymptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years and no porphyria-related manifestations. Asymptomatic AIP: Urine PBG-to-creatinine ratio &lt;4 times ULN and no acute attacks in the last two years but has had =1 acute attack in the past. Latent (inactive) AIP: Urine PBG-to-creatinine ratio &lt;4 times ULN and no acute porphyria-related manifestations to date." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Acute intermittent porphyria (Concept Id: C0162565)
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<!--
UID=56452
ConceptID=C0162565
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Acute intermittent porphyria<span class="h1sub">(AIP)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56452</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)&#10;Click for more information.">C0162565</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>Acute Porphyria; AIP; HMBS deficiency; Hydroxymethylbilane Synthase Deficiency; PBGD DEFICIENCY; PORPHOBILINOGEN DEAMINASE DEFICIENCY; PORPHYRIA, SWEDISH TYPE; UPS DEFICIENCY; UROPORPHYRINOGEN SYNTHASE DEFICIENCY</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Acute intermittent porphyria (234422006); AIP - Acute intermittent porphyria (234422006); Pyrroloporphyria (234422006); Acute porphyria (234422006); Intermittent acute porphyria (234422006); Swedish porphyria (234422006); Intermittent acute porphyria syndrome (234422006)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="HMBS - ID: 3145 - NCBI Gene" href="/gene/3145" class="medgenPMinfo">HMBS</a> (11q23.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008294" target="_blank">MONDO:0008294</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/176000" target="_blank">176000</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&amp;Expert=79276">ORPHA79276</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/NBK1193" target="_blank">Acute Intermittent Porphyria</a></div><div>An acute porphyria attack is characterized by a urine porphobilinogen (PBG)-to-creatinine ratio ≥10 times the upper limit of normal (ULN) and the presence of ≥2 porphyria manifestations (involving the visceral, peripheral, autonomic, and/or central nervous systems) persisting for &gt;24 hours in the absence of other likely explanations. Onset of acute attacks typically occurs in the second or third decade of life. Acute attacks are more common in women than men. Although attacks in most individuals are typically caused by exposure to certain endogenous or exogenous factors, often no precipitating factor can be identified. The course of acute porphyria attacks is highly variable in an individual and between individuals. Recovery from acute porphyria attacks may occur within days; however, recovery from severe attacks that are not promptly recognized and treated may take weeks or months. The five categories of acute intermittent porphyria (AIP), caused by a heterozygous HMBS pathogenic variant, are based on the urine PBG-to-creatinine ratio and occurrence of acute attacks. Active (symptomatic) AIP: An individual who has experienced at least one acute attack within the last two years. Symptomatic high excreter: Urine PBG-to-creatinine ratio ≥4 times ULN and no acute attacks in the last two years but chronic long-standing manifestations of acute porphyria. Asymptomatic high excreter: Urine PBG-to-creatinine ratio ≥4 times ULN and no acute attacks in the last two years and no porphyria-related manifestations. Asymptomatic AIP: Urine PBG-to-creatinine ratio &lt;4 times ULN and no acute attacks in the last two years but has had ≥1 acute attack in the past. Latent (inactive) AIP: Urine PBG-to-creatinine ratio &lt;4 times ULN and no acute porphyria-related manifestations to date. [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/NBK1193#aip.Summary" target="NBK1193">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1193#aip.GeneReview_Scope" target="NBK1193">GeneReview Scope</a>  |  <a class="medgenPMinfo" href="/books/NBK1193#aip.Diagnosis" target="NBK1193">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1193#aip.Clinical_Characteristics" target="NBK1193">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1193#aip.Genetically_Related_Allelic_Disorder" target="NBK1193">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1193#aip.Differential_Diagnosis" target="NBK1193">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1193#aip.Management" target="NBK1193">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1193#aip.Genetic_Counseling" target="NBK1193">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1193#aip.Resources" target="NBK1193">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1193#aip.Molecular_Genetics" target="NBK1193">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1193#aip.Chapter_Notes" target="NBK1193">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1193#aip.References" target="NBK1193">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Eliane Sardh  |  Michela Barbaro   <a href="/books/NBK1193" target="NBK1193" title="NCBI Bookshelf: Acute Intermittent Porphyria">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_descriptions">Additional descriptions</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 />Porphyrias are inherited defects in the biosynthesis of heme. Acute intermittent porphyria (AIP), the most common form of porphyria, is an autosomal dominant disorder characterized by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances. The disorder is notably incompletely penetrant: fewer than 10% of heterozygous mutation carriers actually develop acute porphyric attacks. Acute attacks rarely occur before puberty; they may be precipitated by porphyrinogenic drugs such as barbiturates and sulfonamides (for list, see Tschudy et al., 1975), some of which are known to induce the earlier rate-controlling step in heme synthesis, delta-aminolevulinic acid (ALA) synthesis. Other known precipitants are alcohol, infection, starvation, and hormonal changes; attacks are more common in women. The precipitants cause increased ALAS1 (125290) activity and increased levels of the porphyrin precursors ALA and PBG. The half-normal hepatic HMBS activity in heterozygous AIP patients is insufficient to prevent pathologic accumulation of these precursors, which are most likely responsible for the symptoms (Petrides, 1998; Solis et al., 2004; Kevelam et al., 2016).&#13;
In the classic form of AIP, both the ubiquitous 'nonerythroid' housekeeping HMBS isoform and the 'erythroid' HMBS isoform are deficient. However, about 5% of families have the 'nonerythroid variant' of AIP, with a defect only in the ubiquitous nonerythroid HMBS isoform and normal levels of the erythroid HMBS isoform. Clinical characteristics in the 2 forms are identical; diagnostic methods based on the level of enzyme in erythrocytes are ineffective (Puy et al., 1998; Petrides, 1998; Whatley et al., 2000).&#13;
There are several other forms of porphyria: see porphyria cutanea tarda (176100), variegata porphyria (176200), coproporphyria (121300), acute hepatic porphyria (125270), and congenital erythropoietic porphyria (263700).  <a target="_blank" href="http://www.omim.org/entry/176000">http://www.omim.org/entry/176000</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).<br /><br />Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.<br /><br />Other types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as "acute" because their signs and symptoms appear quickly and usually last a short time. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms.<br /><br />The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer.<br /><br />Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/porphyria">https://medlineplus.gov/genetics/condition/porphyria</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_7803"><div><strong>Abdominal pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7803</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)&#10;Click for more information.">C0000737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7803">Feature record</a> | <a href="/medgen?term=%22Abdominal%20pain%22%5BClinical%20Features%5D%20OR%207803%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_22579"><div><strong>Urinary incontinence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>22579</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)&#10;Click for more information.">C0042024</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Loss of the ability to control the urinary bladder leading to involuntary urination.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/22579">Feature record</a> | <a href="/medgen?term=%22Urinary%20incontinence%22%5BClinical%20Features%5D%20OR%2022579%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3943"><div><strong>Dysuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3943</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)&#10;Click for more information.">C0013428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Painful or difficult urination.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3943">Feature record</a> | <a href="/medgen?term=%22Dysuria%22%5BClinical%20Features%5D%20OR%203943%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_38289"><div><strong>Urinary retention</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38289</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)&#10;Click for more information.">C0080274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Functional Concept</dd></dl></div></div></div>
<div class="spaceAbove">Inability to completely empty the urinary bladder during the process of urination.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Urinary%20retention%22%5BClinical%20Features%5D%20OR%2038289%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_341286"><div><strong>Elevated urinary delta-aminolevulinic acid</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341286</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)&#10;Click for more information.">C1848702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341286">Feature record</a> | <a href="/medgen?term=%22Elevated%20urinary%20delta-aminolevulinic%20acid%22%5BClinical%20Features%5D%20OR%20341286%5Buid%5D">Search on this feature</a></div></div>
<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)&#10;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_21453"><div><strong>Tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21453</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)&#10;Click for more information.">C0039231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A rapid heartrate that exceeds the range of the normal resting heartrate for age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21453">Feature record</a> | <a href="/medgen?term=%22Tachycardia%22%5BClinical%20Features%5D%20OR%2021453%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1101"><div><strong>Constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1101</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)&#10;Click for more information.">C0009806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Infrequent or difficult evacuation of feces.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1101">Feature record</a> | <a href="/medgen?term=%22Constipation%22%5BClinical%20Features%5D%20OR%201101%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</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)&#10;Click for more information.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10196"><div><strong>Nausea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10196</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)&#10;Click for more information.">C0027497</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A sensation of unease in the stomach together with an urge to vomit.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10196">Feature record</a> | <a href="/medgen?term=%22Nausea%22%5BClinical%20Features%5D%20OR%2010196%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_18293"><div><strong>Paralytic ileus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18293</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)&#10;Click for more information.">C0030446</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18293">Feature record</a> | <a href="/medgen?term=%22Paralytic%20ileus%22%5BClinical%20Features%5D%20OR%2018293%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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)&#10;Click for more information.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_389187"><div><strong>Hepatocellular carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>389187</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)&#10;Click for more information.">C2239176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/389187">Feature record</a> | <a href="/medgen?term=%22Hepatocellular%20carcinoma%22%5BClinical%20Features%5D%20OR%20389187%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1613"><div><strong>Anxiety</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0003467</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1613">Feature record</a> | <a href="/medgen?term=%22Anxiety%22%5BClinical%20Features%5D%20OR%201613%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;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_14619"><div><strong>Paresthesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14619</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)&#10;Click for more information.">C0030554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/14619">Feature record</a> | <a href="/medgen?term=%22Paresthesia%22%5BClinical%20Features%5D%20OR%2014619%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)&#10;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_90930"><div><strong>Psychotic episodes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90930</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)&#10;Click for more information.">C0338614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90930">Feature record</a> | <a href="/medgen?term=%22Psychotic%20episodes%22%5BClinical%20Features%5D%20OR%2090930%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_105510"><div><strong>Paralysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105510</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)&#10;Click for more information.">C0522224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/105510">Feature record</a> | <a href="/medgen?term=%22Paralysis%22%5BClinical%20Features%5D%20OR%20105510%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_401350"><div><strong>Acute episodes of neuropathic symptoms</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401350</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)&#10;Click for more information.">C1867971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/401350">Feature record</a> | <a href="/medgen?term=%22Acute%20episodes%20of%20neuropathic%20symptoms%22%5BClinical%20Features%5D%20OR%20401350%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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)&#10;Click for more information.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced strength of muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19748"><div><strong>Respiratory paralysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19748</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)&#10;Click for more information.">C0035232</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Inability to move the muscles of respiration.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19748">Feature record</a> | <a href="/medgen?term=%22Respiratory%20paralysis%22%5BClinical%20Features%5D%20OR%2019748%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1853225"><div><strong>Reduced erythrocyte porphobilinogen deaminase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853225</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)&#10;Click for more information.">C5872948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1853225">Feature record</a> | <a href="/medgen?term=%22Reduced%20erythrocyte%20porphobilinogen%20deaminase%20activity%22%5BClinical%20Features%5D%20OR%201853225%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_1853225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced erythrocyte porphobilinogen deaminase activity</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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tachycardia</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constipation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_389187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatocellular carcinoma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nausea</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18293" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paralytic ileus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</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_3943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysuria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341286" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated urinary delta-aminolevulinic acid</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_38289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urinary retention</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_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">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_401350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute episodes of neuropathic symptoms</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anxiety</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_105510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paralysis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paresthesia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Psychotic episodes</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">Abnormality of the respiratory system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19748" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory paralysis</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal pain</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_22579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urinary incontinence</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><li><a href="#tabORDO">Orphanet</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=C0162565[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=56452">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=56452" target="_blank" href="/omim/176000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1193/" ref="ncbi_uid=56452">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=56452" ref="ncbi_uid=56452">V</a></span></span><span class="TLline">Acute intermittent porphyria</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3828" ref="tree=MeSH" title="MedGen record for Disorder of digestive system">Disorder of digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/9792" ref="tree=MeSH" title="MedGen record for Disease of liver">Disease of liver</a></span><ul><li><span class="TLline"><a href="/medgen/58119" ref="tree=MeSH" title="MedGen record for Hepatic porphyria">Hepatic porphyria</a></span><ul><li><span class="matched_ds">Acute intermittent porphyria</span></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=11302&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Acute intermittent porphyria</span> in Orphanet.</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/37979725">The Alpha-Lipoic Acid Improves Glucose Metabolism and Hyperinsulinemia in Acute Intermittent Porphyria: A Nutritional Concept for the Management of Rare Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Longo M,
Paolini E,
Meroni M,
Jericó D,
Córdoba KM,
Battistin M,
Gatti S,
Di Pierro E,
Fontanellas A,
Dongiovanni P</span><br />
<span class="medgenPMjournal">Cell Mol Gastroenterol Hepatol</span>
2024;17(3):511-514.
Epub 2023 Nov 17
doi: 10.1016/j.jcmgh.2023.11.007.
<span class="bold">PMID: </span><a href="/pubmed/37979725" target="_blank">37979725</a><a href="/pmc/articles/PMC10884556" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36642627">AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang B,
Bonkovsky HL,
Lim JK,
Balwani M</span><br />
<span class="medgenPMjournal">Gastroenterology</span>
2023 Mar;164(3):484-491.
Epub 2023 Jan 13
doi: 10.1053/j.gastro.2022.11.034.
<span class="bold">PMID: </span><a href="/pubmed/36642627" target="_blank">36642627</a><a href="/pmc/articles/PMC10335308" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/980088">Prenatal diagnosis of acute intermittent porphyria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sassa S,
Kappas A</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
1976 Dec 9;295(24):1381.
<span class="bold">PMID: </span><a href="/pubmed/980088" target="_blank">980088</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22acute%20intermittent%20porphyria%22%5Btiab%3A~0%5D)%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 (42)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.orpha.net/data/patho/Pro/en/Emergency_AcuteHepaticPorphyria.pdf" target="_blank">Orphanet, Acute hepatic porphyria neuro-visceral crisis, 2007</a></h3>
</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/37540847">Update on the Porphyrias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dickey AK,
Leaf RK,
Balwani M</span><br />
<span class="medgenPMjournal">Annu Rev Med</span>
2024 Jan 29;75:321-335.
Epub 2023 Aug 4
doi: 10.1146/annurev-med-042921-123602.
<span class="bold">PMID: </span><a href="/pubmed/37540847" target="_blank">37540847</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32521132">Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Balwani M,
Sardh E,
Ventura P,
Peiró PA,
Rees DC,
Stölzel U,
Bissell DM,
Bonkovsky HL,
Windyga J,
Anderson KE,
Parker C,
Silver SM,
Keel SB,
Wang JD,
Stein PE,
Harper P,
Vassiliou D,
Wang B,
Phillips J,
Ivanova A,
Langendonk JG,
Kauppinen R,
Minder E,
Horie Y,
Penz C,
Chen J,
Liu S,
Ko JJ,
Sweetser MT,
Garg P,
Vaishnaw A,
Kim JB,
Simon AR,
Gouya L;
ENVISION Investigators</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2020 Jun 11;382(24):2289-2301.
doi: 10.1056/NEJMoa1913147.
<span class="bold">PMID: </span><a href="/pubmed/32521132" target="_blank">32521132</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32220159">Acute intermittent porphyria: A case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bustos J,
Vargas L,
Quintero R</span><br />
<span class="medgenPMjournal">Biomedica</span>
2020 Mar 1;40(1):14-19.
doi: 10.7705/biomedica.4767.
<span class="bold">PMID: </span><a href="/pubmed/32220159" target="_blank">32220159</a><a href="/pmc/articles/PMC7357387" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31326287">Heme biosynthesis and the porphyrias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips JD</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2019 Nov;128(3):164-177.
Epub 2019 Apr 22
doi: 10.1016/j.ymgme.2019.04.008.
<span class="bold">PMID: </span><a href="/pubmed/31326287" target="_blank">31326287</a><a href="/pmc/articles/PMC7252266" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26132003">Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ramanujam VS,
Anderson KE</span><br />
<span class="medgenPMjournal">Curr Protoc Hum Genet</span>
2015 Jul 1;86:17.20.1-17.20.26.
doi: 10.1002/0471142905.hg1720s86.
<span class="bold">PMID: </span><a href="/pubmed/26132003" target="_blank">26132003</a><a href="/pmc/articles/PMC4640448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acute%20intermittent%20porphyria%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 (265)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37540847">Update on the Porphyrias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dickey AK,
Leaf RK,
Balwani M</span><br />
<span class="medgenPMjournal">Annu Rev Med</span>
2024 Jan 29;75:321-335.
Epub 2023 Aug 4
doi: 10.1146/annurev-med-042921-123602.
<span class="bold">PMID: </span><a href="/pubmed/37540847" target="_blank">37540847</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36642627">AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang B,
Bonkovsky HL,
Lim JK,
Balwani M</span><br />
<span class="medgenPMjournal">Gastroenterology</span>
2023 Mar;164(3):484-491.
Epub 2023 Jan 13
doi: 10.1053/j.gastro.2022.11.034.
<span class="bold">PMID: </span><a href="/pubmed/36642627" target="_blank">36642627</a><a href="/pmc/articles/PMC10335308" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34661997">Acute porphyrias - A neurological perspective.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gerischer LM,
Scheibe F,
Nümann A,
Köhnlein M,
Stölzel U,
Meisel A</span><br />
<span class="medgenPMjournal">Brain Behav</span>
2021 Nov;11(11):e2389.
Epub 2021 Oct 17
doi: 10.1002/brb3.2389.
<span class="bold">PMID: </span><a href="/pubmed/34661997" target="_blank">34661997</a><a href="/pmc/articles/PMC8613433" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32220159">Acute intermittent porphyria: A case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bustos J,
Vargas L,
Quintero R</span><br />
<span class="medgenPMjournal">Biomedica</span>
2020 Mar 1;40(1):14-19.
doi: 10.7705/biomedica.4767.
<span class="bold">PMID: </span><a href="/pubmed/32220159" target="_blank">32220159</a><a href="/pmc/articles/PMC7357387" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28854095">Porphyria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bissell DM,
Anderson KE,
Bonkovsky HL</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2017 Aug 31;377(9):862-872.
doi: 10.1056/NEJMra1608634.
<span class="bold">PMID: </span><a href="/pubmed/28854095" target="_blank">28854095</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acute%20intermittent%20porphyria%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 (603)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/32220159">Acute intermittent porphyria: A case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bustos J,
Vargas L,
Quintero R</span><br />
<span class="medgenPMjournal">Biomedica</span>
2020 Mar 1;40(1):14-19.
doi: 10.7705/biomedica.4767.
<span class="bold">PMID: </span><a href="/pubmed/32220159" target="_blank">32220159</a><a href="/pmc/articles/PMC7357387" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29097018">Antiepileptic Drugs and Liver Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vidaurre J,
Gedela S,
Yarosz S</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2017 Dec;77:23-36.
Epub 2017 Sep 22
doi: 10.1016/j.pediatrneurol.2017.09.013.
<span class="bold">PMID: </span><a href="/pubmed/29097018" target="_blank">29097018</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28854095">Porphyria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bissell DM,
Anderson KE,
Bonkovsky HL</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2017 Aug 31;377(9):862-872.
doi: 10.1056/NEJMra1608634.
<span class="bold">PMID: </span><a href="/pubmed/28854095" target="_blank">28854095</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4532511">Acute intermittent porphyria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McEwin R</span><br />
<span class="medgenPMjournal">Aust N Z J Surg</span>
1973 May;42(4):327-31.
doi: 10.1111/j.1445-2197.1973.tb06811.x.
<span class="bold">PMID: </span><a href="/pubmed/4532511" target="_blank">4532511</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14886859">Acute porphyria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">GILBERT JA,
TOUPIN HM,
BELL RE</span><br />
<span class="medgenPMjournal">Can Med Assoc J</span>
1951 Dec;65(6):585-7.
<span class="bold">PMID: </span><a href="/pubmed/14886859" target="_blank">14886859</a><a href="/pmc/articles/PMC1822301" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acute%20intermittent%20porphyria%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 (312)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36069115">'Swollen heart' in the course of acute intermittent porphyria associated with severe hyponatraemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jaworski K,
Wasilewski R,
Szwed H,
Windyga J,
Dabrowski R</span><br />
<span class="medgenPMjournal">Eur Heart J Cardiovasc Imaging</span>
2022 Nov 17;23(12):e544.
doi: 10.1093/ehjci/jeac186.
<span class="bold">PMID: </span><a href="/pubmed/36069115" target="_blank">36069115</a><a href="/pmc/articles/PMC9759103" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29097018">Antiepileptic Drugs and Liver Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vidaurre J,
Gedela S,
Yarosz S</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2017 Dec;77:23-36.
Epub 2017 Sep 22
doi: 10.1016/j.pediatrneurol.2017.09.013.
<span class="bold">PMID: </span><a href="/pubmed/29097018" target="_blank">29097018</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28854095">Porphyria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bissell DM,
Anderson KE,
Bonkovsky HL</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2017 Aug 31;377(9):862-872.
doi: 10.1056/NEJMra1608634.
<span class="bold">PMID: </span><a href="/pubmed/28854095" target="_blank">28854095</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26159905">Acute Porphyrias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Besur S,
Schmeltzer P,
Bonkovsky HL</span><br />
<span class="medgenPMjournal">J Emerg Med</span>
2015 Sep;49(3):305-12.
Epub 2015 Jul 7
doi: 10.1016/j.jemermed.2015.04.034.
<span class="bold">PMID: </span><a href="/pubmed/26159905" target="_blank">26159905</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4907358">Acute intermittent porphyria. A clinical and biochemical study of 46 patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stein JA,
Tschudy DP</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
1970 Jan;49(1):1-16.
<span class="bold">PMID: </span><a href="/pubmed/4907358" target="_blank">4907358</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acute%20intermittent%20porphyria%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 (157)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/32521132">Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Balwani M,
Sardh E,
Ventura P,
Peiró PA,
Rees DC,
Stölzel U,
Bissell DM,
Bonkovsky HL,
Windyga J,
Anderson KE,
Parker C,
Silver SM,
Keel SB,
Wang JD,
Stein PE,
Harper P,
Vassiliou D,
Wang B,
Phillips J,
Ivanova A,
Langendonk JG,
Kauppinen R,
Minder E,
Horie Y,
Penz C,
Chen J,
Liu S,
Ko JJ,
Sweetser MT,
Garg P,
Vaishnaw A,
Kim JB,
Simon AR,
Gouya L;
ENVISION Investigators</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2020 Jun 11;382(24):2289-2301.
doi: 10.1056/NEJMoa1913147.
<span class="bold">PMID: </span><a href="/pubmed/32521132" target="_blank">32521132</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31326287">Heme biosynthesis and the porphyrias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips JD</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2019 Nov;128(3):164-177.
Epub 2019 Apr 22
doi: 10.1016/j.ymgme.2019.04.008.
<span class="bold">PMID: </span><a href="/pubmed/31326287" target="_blank">31326287</a><a href="/pmc/articles/PMC7252266" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17298215">Porphyria in Sweden.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thunell S,
Floderus Y,
Henrichson A,
Harper P</span><br />
<span class="medgenPMjournal">Physiol Res</span>
2006;55 Suppl 2:S109-118.
doi: 10.33549/physiolres.930000.55.S2.109.
<span class="bold">PMID: </span><a href="/pubmed/17298215" target="_blank">17298215</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6087869">Aetiological aspects on primary liver cancer with special regard to alcohol, organic solvents and acute intermittent porphyria--an epidemiological investigation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hardell L,
Bengtsson NO,
Jonsson U,
Eriksson S,
Larsson LG</span><br />
<span class="medgenPMjournal">Br J Cancer</span>
1984 Sep;50(3):389-97.
doi: 10.1038/bjc.1984.188.
<span class="bold">PMID: </span><a href="/pubmed/6087869" target="_blank">6087869</a><a href="/pmc/articles/PMC1976799" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21011888">Acute porphyria; clinical and pathologic observations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">BERG M</span><br />
<span class="medgenPMjournal">Arch Intern Med (Chic)</span>
1945 Nov-Dec;76:335-40.
doi: 10.1001/archinte.1945.00210350081011.
<span class="bold">PMID: </span><a href="/pubmed/21011888" target="_blank">21011888</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acute%20intermittent%20porphyria%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 (165)</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/37773850">HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li S,
Lei JJ,
Dong BX,
Ren Y,
Yang J</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2023 Sep 29;102(39):e35144.
doi: 10.1097/MD.0000000000035144.
<span class="bold">PMID: </span><a href="/pubmed/37773850" target="_blank">37773850</a><a href="/pmc/articles/PMC10545320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32914723">Acute Neurological Manifestations of Porphyrias and its Types: A Systematic- Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barletta EA,
Belsuzarri TAB,
Urena ARB,
Iunes EA</span><br />
<span class="medgenPMjournal">Cardiovasc Hematol Agents Med Chem</span>
2021;19(1):3-7.
doi: 10.2174/1871525718666200910162000.
<span class="bold">PMID: </span><a href="/pubmed/32914723" target="_blank">32914723</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31706631">Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jaramillo-Calle DA,
Solano JM,
Rabinstein AA,
Bonkovsky HL</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2019 Nov;128(3):242-253.
Epub 2019 Nov 1
doi: 10.1016/j.ymgme.2019.10.011.
<span class="bold">PMID: </span><a href="/pubmed/31706631" target="_blank">31706631</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acute%20intermittent%20porphyria%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 (3)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
</div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0162565%5bDISCUI%5d&amp;filter=method%3A1%5F1" target="_blank">Analyte (11)</a></li>
<li><a href="/gtr/tests?term=C0162565%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (33)</a></li>
<li><a href="/gtr/tests?term=C0162565%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C0162565%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C0162565%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (40)</a></li>
<li><a href="/gtr/tests?term=C0162565%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0162565%5bDISCUI%5d" target="_blank">See all (57)</a></total></li>
</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=176000" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79276" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Acute%20intermittent%20porphyria" target="_blank">ClinicalTrials.gov</a></li></ul></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>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22acute%20intermittent%20porphyria%22%5Btiab%3A~0%5D)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Acute%20intermittent%20porphyria%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.orpha.net/data/patho/Pro/en/Emergency_AcuteHepaticPorphyria.pdf">Orphanet, 2007</a><div>Orphanet, Acute hepatic porphyria neuro-visceral crisis, 2007</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=609806" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3145[geneid]" target="_blank">View HMBS variations in ClinVar</a></li><li><a href="/nuccore/193082971" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=176000" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Acute+Intermittent+Porphyria/187" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/porphyria_acute_intermittent" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Acute%20intermittent%20porphyria" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/porphyria" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5732/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/clinical?term=Acute%20intermittent%20porphyria" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Acute%20intermittent%20porphyria%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=56452" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
</li>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=56452" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
</li>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0162565[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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