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<meta name="keywords" content="C0162531, berger-goldberg syndrome, coproporphyria, coproporphyria hereditary, coproporphyria, hereditary, coproporphyrinogen oxidase deficiency, cpo - coproporphyrinogen oxidase deficiency, cpo deficiency, cpox, cpox deficiency, cpro deficiency, cpx deficiency, deficiency, coproporphyrinogen oxidase, disease or syndrome, harderoporphyria, hcp, hcp - hereditary coproporphyria, hereditary coproporphyria, hereditary coproporphyria porphyria, porphyria hepatica coproporphyria, porphyria hepatica ii, 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="Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individuals, the pain is predominantly in the back or extremities. When an acute attack is untreated, a motor neuropathy may develop over a period of days or a few weeks. The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet. Some individuals experience respiratory insufficiency due to loss of innervation of the diaphragm and muscles of respiration. Acute attacks are associated commonly with use of certain medications, caloric deprivation, and changes in female reproductive hormones. About 20% of those with an acute attack also experience photosensitivity associated with bullae and skin fragility." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Hereditary coproporphyria (Concept Id: C0162531)
- MedGen - NCBI</title>
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<!--
UID=57931
ConceptID=C0162531
-->
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK114807/bin/hcp-Image001.gif" src-large="/books/NBK114807/bin/hcp-Image001.jpg" /></a><br /><a href="/books/NBK114807/figure/hcp.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary coproporphyria<span class="h1sub">(HCP)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57931</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."><span class="highlight" style="background-color:">C0162531</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>COPROPORPHYRINOGEN OXIDASE DEFICIENCY; CPO DEFICIENCY; CPOX DEFICIENCY; CPRO deficiency; CPX DEFICIENCY; HCP; Hereditary coproporphyria porphyria; Porphyria hepatica coproporphyria; Porphyria hepatica II</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Hereditary coproporphyria (7425008); Berger-Goldberg syndrome (7425008); CPO deficiency (7425008); CPRO deficiency (7425008); Porphyria hepatica II (7425008); HCP - Hereditary coproporphyria (7425008); Coproporphyrinogen oxidase deficiency (7425008); CPO - Coproporphyrinogen oxidase deficiency (7425008)</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="CPOX - ID: 1371 - NCBI Gene" href="/gene/1371" class="medgenPMinfo">CPOX</a> (3q11.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0007369" target="_blank">MONDO:0007369</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/121300" target="_blank">121300</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=79273">ORPHA79273</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/NBK114807" target="_blank">Hereditary Coproporphyria</a></div><div>Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individuals, the pain is predominantly in the back or extremities. When an acute attack is untreated, a motor neuropathy may develop over a period of days or a few weeks. The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet. Some individuals experience respiratory insufficiency due to loss of innervation of the diaphragm and muscles of respiration. Acute attacks are associated commonly with use of certain medications, caloric deprivation, and changes in female reproductive hormones. About 20% of those with an acute attack also experience photosensitivity associated with bullae and skin fragility. [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/NBK114807#hcp.Summary" target="NBK114807">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK114807#hcp.Diagnosis" target="NBK114807">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK114807#hcp.Clinical_Characteristics" target="NBK114807">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK114807#hcp.Genetically_Related_Allelic_Disorder" target="NBK114807">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK114807#hcp.Differential_Diagnosis" target="NBK114807">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK114807#hcp.Management" target="NBK114807">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK114807#hcp.Genetic_Counseling" target="NBK114807">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK114807#hcp.Resources" target="NBK114807">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK114807#hcp.Molecular_Genetics" target="NBK114807">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK114807#hcp.Chapter_Notes" target="NBK114807">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK114807#hcp.References" target="NBK114807">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Bruce Wang  |  D Montgomery Bissell   <a href="/books/NBK114807" target="NBK114807" title="NCBI Bookshelf: Hereditary Coproporphyria">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 />Hereditary coproporphyria (HCP), an acute hepatic porphyria, is characterized by acute attacks of neurologic dysfunction often provoked by drugs, fasting, menstrual cycle, or infectious diseases. Skin photosensitivity may also be present. Inheritance is usually autosomal dominant, but autosomal recessive inheritance can also occur. Excretion of large amounts of coproporphyrin III, mostly in feces and urine, is observed (review by Schmitt et al., 2005).  <a target="_blank" href="http://www.omim.org/entry/121300">http://www.omim.org/entry/121300</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_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_868601"><div><strong>Increased urinary porphobilinogen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868601</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.">C4023000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/868601">Feature record</a> | <a href="/medgen?term=%22Increased%20urinary%20porphobilinogen%22%5BClinical%20Features%5D%20OR%20868601%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1863707"><div><strong>Elevated urinary coproporphyrin level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863707</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.">C5937299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The amount of a coproporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1863707">Feature record</a> | <a href="/medgen?term=%22Elevated%20urinary%20coproporphyrin%20level%22%5BClinical%20Features%5D%20OR%201863707%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_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally increased size of the liver.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</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.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%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_1711423"><div><strong>Increased fecal coproporphyrin 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1711423</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.">C5397996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally high concentration of coproporphyrin 3 in feces</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1711423">Feature record</a> | <a href="/medgen?term=%22Increased%20fecal%20coproporphyrin%203%22%5BClinical%20Features%5D%20OR%201711423%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1841725"><div><strong>Increased fecal coproporphyrin III:coproporphyrin I ratio</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841725</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.">C5826417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841725">Feature record</a> | <a href="/medgen?term=%22Increased%20fecal%20coproporphyrin%20III%3Acoproporphyrin%20I%20ratio%22%5BClinical%20Features%5D%20OR%201841725%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_3587"><div><strong>Confusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3587</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.">C0009676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Lack of clarity and coherence of thought, perception, understanding, or action.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3587">Feature record</a> | <a href="/medgen?term=%22Confusion%22%5BClinical%20Features%5D%20OR%203587%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_6709"><div><strong>Hallucinations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6709</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.">C0018524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6709">Feature record</a> | <a href="/medgen?term=%22Hallucinations%22%5BClinical%20Features%5D%20OR%206709%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_18386"><div><strong>Peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18386</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0031117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18386">Feature record</a> | <a href="/medgen?term=%22Peripheral%20neuropathy%22%5BClinical%20Features%5D%20OR%2018386%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_214589"><div><strong>Insomnia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>214589</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.">C0917801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Persistent difficulty initiating or maintaining sleep.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/214589">Feature record</a> | <a href="/medgen?term=%22Insomnia%22%5BClinical%20Features%5D%20OR%20214589%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_306130"><div><strong>Paranoia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>306130</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.">C1456784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/306130">Feature record</a> | <a href="/medgen?term=%22Paranoia%22%5BClinical%20Features%5D%20OR%20306130%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_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_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1864371"><div><strong>Elevated circulating heptacarboxylporphyrin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864371</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.">C5937434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1864371">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20heptacarboxylporphyrin%20concentration%22%5BClinical%20Features%5D%20OR%201864371%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_87601"><div><strong>Cutaneous photosensitivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87601</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.">C0349506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87601">Feature record</a> | <a href="/medgen?term=%22Cutaneous%20photosensitivity%22%5BClinical%20Features%5D%20OR%2087601%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_1864371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating heptacarboxylporphyrin concentration</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_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1711423" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased fecal coproporphyrin 3</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1841725" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased fecal coproporphyrin III:coproporphyrin I ratio</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</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_1863707" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated urinary coproporphyrin level</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_868601" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased urinary porphobilinogen</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_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</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_87601" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous photosensitivity</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_3587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Confusion</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_6709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hallucinations</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_214589" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Insomnia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_306130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paranoia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral neuropathy</a></span></li></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></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=C0162531[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=57931">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=57931" target="_blank" href="/omim/121300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK114807/" ref="ncbi_uid=57931">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=57931" ref="ncbi_uid=57931">V</a></span></span><span class="TLline">Hereditary coproporphyria</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">Hereditary coproporphyria</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=11299&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hereditary coproporphyria</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/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/35531651">Givosiran for the treatment of acute hepatic porphyria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ricci A,
Ventura P</span><br />
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
2022 Apr;15(4):383-393.
Epub 2022 May 11
doi: 10.1080/17512433.2022.2075848.
<span class="bold">PMID: </span><a href="/pubmed/35531651" target="_blank">35531651</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34369323">Expert consensus statement on acute hepatic porphyria in Belgium.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gilles A,
Vermeersch S,
Vermeersch P,
Wolff F,
Cotton F,
Tilleux S,
Cassiman D</span><br />
<span class="medgenPMjournal">Acta Clin Belg</span>
2022 Aug;77(4):735-741.
Epub 2021 Aug 7
doi: 10.1080/17843286.2021.1961056.
<span class="bold">PMID: </span><a href="/pubmed/34369323" target="_blank">34369323</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20coproporphyria%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 (10)</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_CutaneousPorphyrias.pdf" target="_blank">Orphanet emergency guideline: Cutaneous porphyrias, 2007</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/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/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/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 class="nl"><a target="_blank" href="/pubmed/24891059">The cutaneous porphyrias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schulenburg-Brand D,
Katugampola R,
Anstey AV,
Badminton MN</span><br />
<span class="medgenPMjournal">Dermatol Clin</span>
2014 Jul;32(3):369-84, ix.
Epub 2014 May 5
doi: 10.1016/j.det.2014.03.001.
<span class="bold">PMID: </span><a href="/pubmed/24891059" target="_blank">24891059</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24365356">Porphyria and its neurologic manifestations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tracy JA,
Dyck PJ</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2014;120:839-49.
doi: 10.1016/B978-0-7020-4087-0.00056-5.
<span class="bold">PMID: </span><a href="/pubmed/24365356" target="_blank">24365356</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20coproporphyria%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 (55)</a></div><h3 class="subhead">Diagnosis</h3>
<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/31085196">Clinical Guide and Update on Porphyrias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stölzel U,
Doss MO,
Schuppan D</span><br />
<span class="medgenPMjournal">Gastroenterology</span>
2019 Aug;157(2):365-381.e4.
Epub 2019 May 11
doi: 10.1053/j.gastro.2019.04.050.
<span class="bold">PMID: </span><a href="/pubmed/31085196" target="_blank">31085196</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 class="nl"><a target="_blank" href="/pubmed/24365356">Porphyria and its neurologic manifestations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tracy JA,
Dyck PJ</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2014;120:839-49.
doi: 10.1016/B978-0-7020-4087-0.00056-5.
<span class="bold">PMID: </span><a href="/pubmed/24365356" target="_blank">24365356</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20coproporphyria%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 (122)</a></div><h3 class="subhead">Therapy</h3>
<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/27982422">Update review of the acute porphyrias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stein PE,
Badminton MN,
Rees DC</span><br />
<span class="medgenPMjournal">Br J Haematol</span>
2017 Feb;176(4):527-538.
Epub 2016 Dec 16
doi: 10.1111/bjh.14459.
<span class="bold">PMID: </span><a href="/pubmed/27982422" target="_blank">27982422</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/24891059">The cutaneous porphyrias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schulenburg-Brand D,
Katugampola R,
Anstey AV,
Badminton MN</span><br />
<span class="medgenPMjournal">Dermatol Clin</span>
2014 Jul;32(3):369-84, ix.
Epub 2014 May 5
doi: 10.1016/j.det.2014.03.001.
<span class="bold">PMID: </span><a href="/pubmed/24891059" target="_blank">24891059</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15745372">Solar urticaria and porphyrias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Palma-Carlos AG,
Palma-Carlos ML</span><br />
<span class="medgenPMjournal">Eur Ann Allergy Clin Immunol</span>
2005 Jan;37(1):17-20.
<span class="bold">PMID: </span><a href="/pubmed/15745372" target="_blank">15745372</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20coproporphyria%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 (40)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38462517">Hereditary Coproporphyria in Which the Patient's Course Improved after the Discontinuation of Givosiran.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ozaki N,
Hayashi Y,
Kiyota A</span><br />
<span class="medgenPMjournal">Intern Med</span>
2024 Nov 1;63(21):2961-2964.
Epub 2024 Mar 11
doi: 10.2169/internalmedicine.3284-23.
<span class="bold">PMID: </span><a href="/pubmed/38462517" target="_blank">38462517</a><a href="/pmc/articles/PMC11604377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30413387">Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peoc'h K,
Manceau H,
Karim Z,
Wahlin S,
Gouya L,
Puy H,
Deybach JC</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2019 Nov;128(3):236-241.
Epub 2018 Oct 9
doi: 10.1016/j.ymgme.2018.10.001.
<span class="bold">PMID: </span><a href="/pubmed/30413387" target="_blank">30413387</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27139922">Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989-2013.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Christiansen AL,
Aagaard L,
Krag A,
Rasmussen LM,
Bygum A</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2016 Nov 2;96(7):868-872.
doi: 10.2340/00015555-2444.
<span class="bold">PMID: </span><a href="/pubmed/27139922" target="_blank">27139922</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/23114748">The incidence of inherited porphyrias in Europe.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Elder G,
Harper P,
Badminton M,
Sandberg S,
Deybach JC</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2013 Sep;36(5):849-57.
Epub 2012 Nov 1
doi: 10.1007/s10545-012-9544-4.
<span class="bold">PMID: </span><a href="/pubmed/23114748" target="_blank">23114748</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20coproporphyria%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 (27)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/32085780">Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baravelli CM,
Aarsand AK,
Sandberg S,
Tollånes MC</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2020 Feb 21;15(1):56.
doi: 10.1186/s13023-019-1273-4.
<span class="bold">PMID: </span><a href="/pubmed/32085780" target="_blank">32085780</a><a href="/pmc/articles/PMC7035738" 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/30594473">Recent advances on porphyria genetics: Inheritance, penetrance &amp; molecular heterogeneity, including new modifying/causative genes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yasuda M,
Chen B,
Desnick RJ</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2019 Nov;128(3):320-331.
Epub 2018 Nov 30
doi: 10.1016/j.ymgme.2018.11.012.
<span class="bold">PMID: </span><a href="/pubmed/30594473" target="_blank">30594473</a><a href="/pmc/articles/PMC6542720" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10787385">Alcohol and porphyrin metabolism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Doss MO,
Kühnel A,
Gross U</span><br />
<span class="medgenPMjournal">Alcohol Alcohol</span>
2000 Mar-Apr;35(2):109-25.
doi: 10.1093/alcalc/35.2.109.
<span class="bold">PMID: </span><a href="/pubmed/10787385" target="_blank">10787385</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3298037">Porphyria: genetic and acquired.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cripps DJ</span><br />
<span class="medgenPMjournal">IARC Sci Publ</span>
1986;(77):549-66.
<span class="bold">PMID: </span><a href="/pubmed/3298037" target="_blank">3298037</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20coproporphyria%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 (38)</a></div></div>
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<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/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=%22Hereditary%20coproporphyria%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 (1)</a></div></div>
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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>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0162531%5bDISCUI%5d&amp;filter=method%3A1%5F1" target="_blank">Analyte (9)</a></li>
<li><a href="/gtr/tests?term=C0162531%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (27)</a></li>
<li><a href="/gtr/tests?term=C0162531%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C0162531%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (31)</a></li>
<li><a href="/gtr/tests?term=C0162531%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0162531%5bDISCUI%5d" target="_blank">See all (44)</a></total></li>
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<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=121300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79273" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hereditary%20coproporphyria" 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=(%22hereditary%20coproporphyria%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></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.orpha.net/data/patho/Pro/en/Emergency_CutaneousPorphyrias.pdf">Orphanet, 2007</a><div>Orphanet emergency guideline: Cutaneous porphyrias, 2007</div></li><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=612732" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1371[geneid]" target="_blank">View CPOX variations in ClinVar</a></li><li><a href="/nuccore/269954688" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=121300" 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/Hereditary+coproporphyria/3350" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/coproporphyria_hereditary" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Hereditary%20coproporphyria" 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/6619/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=57931" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0162531[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0162531[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&amp;from_uid=57931" ref="log$=recordlinks">PMC Articles</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&amp;from_uid=57931" ref="log$=recordlinks">PubMed</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&amp;from_uid=57931" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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