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<meta name="keywords" content="C0042109, disease or syndrome, hives, urticaria, urticaria (disease), urticarial rash, urticarial wheal, urticarial wheals, urticarias, wheal, urticarial, wheals, urticarial, 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="Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=22587
ConceptID=C0042109
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Urticaria</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>22587</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:">C0042109</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Urticaria (disease)</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Urticaria (64305001); Urticarial rash (247472004); Hives (247472004); Urticaria (126485001)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001025">HP:0001025</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0005492" target="_blank">MONDO:0005492</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_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0042109[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=22587">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=22587" ref="ncbi_uid=22587">V</a></span></span><span class="TLline">Urticaria</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/232638" ref="tree=MeSH" title="MedGen record for Immune System and Related Disorders">Immune System and Related Disorders</a></span><ul><li><span class="TLline"><a href="/medgen/5759" ref="tree=MeSH" title="MedGen record for Immune system disorder">Immune system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/9370" ref="tree=MeSH" title="MedGen record for Allergy">Allergy</a></span><ul><li><span class="matched_ds">Urticaria</span><ul><li><span class="TLline"><a href="/medgen/1543" ref="tree=MeSH" title="MedGen record for Angioedema">Angioedema</a></span><ul><li><span class="TLline"><a href="/medgen/9229" ref="tree=MeSH" title="MedGen record for Hereditary angioneurotic edema">Hereditary angioneurotic edema</a></span><ul><li><span class="TLline"><a href="/medgen/403466" ref="tree=MeSH" title="MedGen record for Hereditary angioedema type 1">Hereditary angioedema type 1</a></span></li><li><span class="TLline"><a href="/medgen/346653" ref="tree=MeSH" title="MedGen record for Hereditary angioedema type 3">Hereditary angioedema type 3</a></span></li><li><span class="TLline"><a href="/medgen/439305" ref="tree=MeSH" title="MedGen record for Hereditary Angioedema Types I and II">Hereditary Angioedema Types I and II</a></span></li><li><span class="TLline"><a href="/medgen/1812520" ref="tree=MeSH" title="MedGen record for Hereditary angioedema with C1Inh deficiency">Hereditary angioedema with C1Inh deficiency</a></span></li><li><span class="TLline"><a href="/medgen/743231" ref="tree=MeSH" title="MedGen record for Hereditary angioedema with normal C1Inh">Hereditary angioedema with normal C1Inh</a></span></li><li><span class="TLline"><a href="/medgen/585077" ref="tree=MeSH" title="MedGen record for Hereditary C1 esterase inhibitor deficiency - dysfunctional factor">Hereditary C1 esterase inhibitor deficiency - dysfunctional factor</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/662267" ref="tree=MeSH" title="MedGen record for Chronic idiopathic urticaria">Chronic idiopathic urticaria</a></span></li><li><span class="TLline"><a href="/medgen/537829" ref="tree=MeSH" title="MedGen record for Chronic urticaria">Chronic urticaria</a></span></li><li><span class="TLline"><a href="/medgen/909963" ref="tree=MeSH" title="MedGen record for Darier sign">Darier sign</a></span></li><li><span class="TLline"><a href="/medgen/1773749" ref="tree=MeSH" title="MedGen record for Neutrophilic urticarial dermatosis">Neutrophilic urticarial dermatosis</a></span></li><li><span class="TLline"><a href="/medgen/1639813" ref="tree=MeSH" title="MedGen record for Physical urticaria">Physical urticaria</a></span><ul><li><span class="TLline"><a href="/medgen/82663" ref="tree=MeSH" title="MedGen record for Aquagenic urticaria">Aquagenic urticaria</a></span></li><li><span class="TLline"><a href="/medgen/472942" ref="tree=MeSH" title="MedGen record for Cold urticaria">Cold urticaria</a></span></li><li><span class="TLline"><a href="/medgen/488854" ref="tree=MeSH" title="MedGen record for Dermatographic urticaria">Dermatographic urticaria</a></span></li><li><span class="TLline"><a href="/medgen/538004" ref="tree=MeSH" title="MedGen record for Solar urticaria">Solar urticaria</a></span></li><li><span class="TLline"><a href="/medgen/510413" ref="tree=MeSH" title="MedGen record for Vibratory urticaria">Vibratory urticaria</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_510413"><div><strong>Vibratory urticaria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>510413</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.">C0157743</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant vibratory urticaria is characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum (Boyden et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/510413">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_116049"><div><strong>Gastrointestinal stroma tumor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116049</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.">C0238198</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999).&#13; GISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; 162200) and GIST-plus syndrome (175510).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116049">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_82663"><div><strong>Aquagenic urticaria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82663</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.">C0263334</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82663">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120519"><div><strong>Nager syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120519</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.">C0265245</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120519">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120634"><div><strong>Familial amyloid nephropathy with urticaria AND deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120634</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.">C0268390</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120634">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98312"><div><strong>Anaphylotoxin inactivator deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98312</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.">C0398782</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Carboxypeptidase-N deficiency (CPND) is an autosomal recessive disorder characterized by episodic angioedema, acute or chronic urticaria, asthma, and/or allergic hypersensitivities such as hay fever. Homozygous individuals as well as their heterozygous family members have levels of carboxypeptidase N that are below the reference range, and heterozygotes are symptomatic, albeit to a generally milder degree (Mathews et al., 1980; Vincent et al., 2024).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98312">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_210143"><div><strong>Cutaneous mastocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>210143</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.">C1136033</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/210143">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_231300"><div><strong>Autoimmune lymphoproliferative syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231300</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.">C1328840</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/231300">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343610"><div><strong>Eosinophilopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343610</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.">C1851586</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally low level of eosinophils in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343610">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_384046"><div><strong>Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384046</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.">C1857052</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/384046">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_349065"><div><strong>Autoimmune lymphoproliferative syndrome type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349065</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.">C1858968</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/349065">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_395922"><div><strong>Urticaria, familial localized heat</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395922</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.">C1860551</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395922">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_435869"><div><strong>Familial cold autoinflammatory syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435869</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.">C2673198</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. In most patients, these episodes are accompanied by fever and serologic evidence of inflammation. Most, but not all, patients report exposure to cold as a trigger for the episodes. Additional features may include abdominal pain, thoracic pain, and sensorineural deafness. The age at onset is variable, ranging from the first year of life to middle age, and the severity and clinical manifestations are heterogeneous (summary by Shen et al., 2017).&#13; For a phenotypic description and a discussion of genetic heterogeneity of familial cold autoinflammatory syndrome, see FCAS1 (120100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/435869">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_854829"><div><strong>Aicardi-Goutieres syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854829</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.">C3888244</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854829">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863504"><div><strong>Periodic fever-infantile enterocolitis-autoinflammatory syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863504</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.">C4015067</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863504">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863713"><div><strong>Familial cold autoinflammatory syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863713</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.">C4015276</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Patients with familial cold autoinflammatory syndrome-4 (FCAS4) have onset in infancy of high fever, urticarial-like rash without itching, and arthralgia induced by exposure to cold (Kitamura et al., 2014).&#13; For a phenotypic description and a discussion of genetic heterogeneity of familial cold autoinflammatory syndrome, see FCAS1 (120100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863713">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1626346"><div><strong>Hearing loss, autosomal dominant 34, with or without inflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1626346</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.">C4521680</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see 147679) may be effective if started early (summary by Nakanishi et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1626346">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1647324"><div><strong>Familial cold autoinflammatory syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647324</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.">C4551895</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cryopyrin-associated periodic syndromes (CAPS) are a group of conditions that have overlapping signs and symptoms and the same genetic cause. The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. FCAS1 is the least severe form of CAPS, MWS is intermediate in severity, and NOMID is the most severe form.\n\nThe signs and symptoms of CAPS affect multiple body systems. Generally, CAPS are characterized by periodic episodes of skin rash, fever, and joint pain. These episodes can be triggered by exposure to cold temperatures, fatigue, other stressors, or they may arise spontaneously. Episodes can last from a few hours to several days. These episodes typically begin in infancy or early childhood and persist throughout life.\n\nWhile the CAPS spectrum shares similar signs and symptoms, the individual conditions tend to have distinct patterns of features. People with FCAS1 are particularly sensitive to the cold, and exposure to cold temperatures can trigger a painful or burning rash. The rash usually affects the torso and limbs but may spread to the rest of the body. In addition to fever and joint pain, other possible symptoms include muscle aches, chills, drowsiness, eye redness, headache, and nausea.\n\nIn people with NOMID, the signs and symptoms of the condition are usually present from birth and persists throughout life. In addition to skin rash and fever, affected individuals may have joint inflammation, swelling, and joint deformities called contractures that may restrict movement. People with NOMID typically have headaches, seizures, and cognitive impairment resulting from chronic meningitis, which is inflammation of the tissue that covers and protects the brain and spinal cord (meninges). Other features of NOMID include eye problems, short stature, distinctive facial features, and kidney damage caused by amyloidosis.\n\nIndividuals with MWS develop the typical periodic episodes of skin rash, fever, and joint pain after cold exposure, although episodes may occur spontaneously or all the time. Additionally, they can develop progressive hearing loss in their teenage years. Other features of MWS include skin lesions or kidney damage from abnormal deposits of a protein called amyloid (amyloidosis).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1647324">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1662266"><div><strong>Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1662266</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.">C4749914</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ALPK1-related autoinflammatory disease (ALPK1-AD) is characterized by clinical findings that can include intraocular inflammation, retinal degeneration, recurrent fever, deforming arthritis, and headaches. Anhidrosis/hypohidrosis, dental caries, short dental roots, and hyposalivation are common. While most adults have ophthalmologic manifestations, vision loss is not universal. Although significant intrafamilial variability can occur, most individuals with ALPK1-AD exhibit at least one clinical or laboratory feature (such as episodic low-grade fever or episodic elevation of serum markers of inflammation such as C-reactive protein). To date, 41 individuals from 19 families with a pathogenic variant in ALPK1 have been described.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1662266">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1734177"><div><strong>Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1734177</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.">C5436550</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1734177">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794184"><div><strong>Neurodevelopmental disorder with hypotonia and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794184</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.">C5561974</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794184">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1802991"><div><strong>Netherton syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802991</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.">C5574950</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Netherton syndrome (NETH) is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (summary by Bitoun et al., 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1802991">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841161"><div><strong>Autoinflammatory disease, systemic, with vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841161</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.">C5830525</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Systemic autoinflammatory disease with vasculitis (SAIDV) is an autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP; 123260). Laboratory studies may show leukocytosis, thrombocytopenia, and autoantibodies. A subset of patients develop progressive liver involvement that may result in fibrosis. Other systemic features, such as periorbital edema, conjunctivitis, infections, abdominal pain, and arthralgia are usually observed. Mutations occur de novo. De Jesus et al. (2023) referred to this disorder as LAVLI (LYN kinase-associated vasculopathy and liver fibrosis).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841161">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841236"><div><strong>Autoimmune disease, multisystem, infantile-onset, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841236</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.">C5830600</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Infantile-onset multisystem autoimmune disease-3 (ADMIO3) is an autosomal recessive disorder of immune dysregulation characterized by the onset of various systemic autoimmune manifestations in the first months or years of life. Features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations (fever, hepatomegaly), and autoimmune cytopenias. Laboratory studies show normal levels of T, B, and NK cells, but CD4+ (see 186940) T cells demonstrate hyperproliferation when stimulated in vitro (Janssen et al., 2022).&#13; For a discussion of genetic heterogeneity of ADMIO, see ADMIO1 (615952).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841236">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98312" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anaphylotoxin inactivator deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841161" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory disease, systemic, with vasculitis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_210143" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous mastocytosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eosinophilopenia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120634" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial amyloid nephropathy with urticaria AND deafness</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial cold autoinflammatory syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial cold autoinflammatory syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial cold autoinflammatory syndrome 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal stroma tumor</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1626346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hearing loss, autosomal dominant 34, with or without inflammation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_384046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1734177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nager syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1802991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Netherton syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794184" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and dysmorphic facies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863504" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periodic fever-infantile enterocolitis-autoinflammatory syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1662266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urticaria, familial localized heat</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_510413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vibratory urticaria</a></div></span></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/34536239">The international EAACI/GA²LEN/EuroGuiDerm/APAAACI guideline for the definition, classification, diagnosis, and management of urticaria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zuberbier T,
Abdul Latiff AH,
Abuzakouk M,
Aquilina S,
Asero R,
Baker D,
Ballmer-Weber B,
Bangert C,
Ben-Shoshan M,
Bernstein JA,
Bindslev-Jensen C,
Brockow K,
Brzoza Z,
Chong Neto HJ,
Church MK,
Criado PR,
Danilycheva IV,
Dressler C,
Ensina LF,
Fonacier L,
Gaskins M,
Gáspár K,
Gelincik A,
Giménez-Arnau A,
Godse K,
Gonçalo M,
Grattan C,
Grosber M,
Hamelmann E,
Hébert J,
Hide M,
Kaplan A,
Kapp A,
Kessel A,
Kocatürk E,
Kulthanan K,
Larenas-Linnemann D,
Lauerma A,
Leslie TA,
Magerl M,
Makris M,
Meshkova RY,
Metz M,
Micallef D,
Mortz CG,
Nast A,
Oude-Elberink H,
Pawankar R,
Pigatto PD,
Ratti Sisa H,
Rojo Gutiérrez MI,
Saini SS,
Schmid-Grendelmeier P,
Sekerel BE,
Siebenhaar F,
Siiskonen H,
Soria A,
Staubach-Renz P,
Stingeni L,
Sussman G,
Szegedi A,
Thomsen SF,
Vadasz Z,
Vestergaard C,
Wedi B,
Zhao Z,
Maurer M</span><br />
<span class="medgenPMjournal">Allergy</span>
2022 Mar;77(3):734-766.
Epub 2021 Oct 20
doi: 10.1111/all.15090.
<span class="bold">PMID: </span><a href="/pubmed/34536239" target="_blank">34536239</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32931210">Anaphylaxis: Recognition and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pflipsen MC,
Vega Colon KM</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2020 Sep 15;102(6):355-362.
<span class="bold">PMID: </span><a href="/pubmed/32931210" target="_blank">32931210</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30644987">Evaluation and Management of Penicillin Allergy: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shenoy ES,
Macy E,
Rowe T,
Blumenthal KG</span><br />
<span class="medgenPMjournal">JAMA</span>
2019 Jan 15;321(2):188-199.
doi: 10.1001/jama.2018.19283.
<span class="bold">PMID: </span><a href="/pubmed/30644987" target="_blank">30644987</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22urticaria%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 (908)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/32298850">Urticaria and Angioedema Across the Ages.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saini S,
Shams M,
Bernstein JA,
Maurer M</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
2020 Jun;8(6):1866-1874.
Epub 2020 Apr 13
doi: 10.1016/j.jaip.2020.03.030.
<span class="bold">PMID: </span><a href="/pubmed/32298850" target="_blank">32298850</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30830060">Mild cutaneous reactions to drugs.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Crisafulli G,
Franceschini F,
Caimmi S,
Bottau P,
Liotti L,
Saretta F,
Bernardini R,
Cardinale F,
Mori F,
Caffarelli C</span><br />
<span class="medgenPMjournal">Acta Biomed</span>
2019 Jan 28;90(3-S):36-43.
doi: 10.23750/abm.v90i3-S.8159.
<span class="bold">PMID: </span><a href="/pubmed/30830060" target="_blank">30830060</a><a href="/pmc/articles/PMC6502176" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30033913">How to Approach Chronic Inducible Urticaria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maurer M,
Fluhr JW,
Khan DA</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
2018 Jul-Aug;6(4):1119-1130.
doi: 10.1016/j.jaip.2018.03.007.
<span class="bold">PMID: </span><a href="/pubmed/30033913" target="_blank">30033913</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24766875">The diagnosis and management of acute and chronic urticaria: 2014 update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bernstein JA,
Lang DM,
Khan DA,
Craig T,
Dreyfus D,
Hsieh F,
Sheikh J,
Weldon D,
Zuraw B,
Bernstein DI,
Blessing-Moore J,
Cox L,
Nicklas RA,
Oppenheimer J,
Portnoy JM,
Randolph CR,
Schuller DE,
Spector SL,
Tilles SA,
Wallace D</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
2014 May;133(5):1270-7.
doi: 10.1016/j.jaci.2014.02.036.
<span class="bold">PMID: </span><a href="/pubmed/24766875" target="_blank">24766875</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4092384">Urticarial vasculitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gammon WR</span><br />
<span class="medgenPMjournal">Dermatol Clin</span>
1985 Jan;3(1):97-105.
<span class="bold">PMID: </span><a href="/pubmed/4092384" target="_blank">4092384</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Urticaria%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 (4189)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38937017">Urticaria and Angioedema.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Katial R</span><br />
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
2024 Aug;44(3):xiii-xiv.
Epub 2024 May 13
doi: 10.1016/j.iac.2024.04.002.
<span class="bold">PMID: </span><a href="/pubmed/38937017" target="_blank">38937017</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37537021">Recent updates in urticaria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giménez-Arnau AM,
Manzanares N,
Podder I</span><br />
<span class="medgenPMjournal">Med Clin (Barc)</span>
2023 Nov 24;161(10):435-444.
Epub 2023 Aug 1
doi: 10.1016/j.medcli.2023.06.026.
<span class="bold">PMID: </span><a href="/pubmed/37537021" target="_blank">37537021</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36481045">Chronic spontaneous urticaria guidelines: What is new?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zuberbier T,
Bernstein JA,
Maurer M</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
2022 Dec;150(6):1249-1255.
doi: 10.1016/j.jaci.2022.10.004.
<span class="bold">PMID: </span><a href="/pubmed/36481045" target="_blank">36481045</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36314703">Chronic Urticaria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hsu JI,
Hsu S</span><br />
<span class="medgenPMjournal">Skinmed</span>
2022;20(5):364-366.
Epub 2022 Oct 31
<span class="bold">PMID: </span><a href="/pubmed/36314703" target="_blank">36314703</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36314621">Chronic Urticaria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hsu JI,
Hsu S</span><br />
<span class="medgenPMjournal">Skinmed</span>
2022;20(4):364-366.
Epub 2022 Oct 31
<span class="bold">PMID: </span><a href="/pubmed/36314621" target="_blank">36314621</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Urticaria%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 (5881)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36719690">Current and future management of chronic spontaneous urticaria and chronic inducible urticaria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Do TT,
Canty EA,
Joshi SR</span><br />
<span class="medgenPMjournal">Allergy Asthma Proc</span>
2023 Jan 1;44(1):3-14.
doi: 10.2500/aap.2023.44.220093.
<span class="bold">PMID: </span><a href="/pubmed/36719690" target="_blank">36719690</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34564936">Role of nutritional supplements in selected dermatological disorders: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sardana K,
Sachdeva S</span><br />
<span class="medgenPMjournal">J Cosmet Dermatol</span>
2022 Jan;21(1):85-98.
Epub 2021 Sep 26
doi: 10.1111/jocd.14436.
<span class="bold">PMID: </span><a href="/pubmed/34564936" target="_blank">34564936</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32401033">A Fast and Clean BTK Inhibitor.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gabizon R,
London N</span><br />
<span class="medgenPMjournal">J Med Chem</span>
2020 May 28;63(10):5100-5101.
Epub 2020 May 13
doi: 10.1021/acs.jmedchem.0c00597.
<span class="bold">PMID: </span><a href="/pubmed/32401033" target="_blank">32401033</a><a href="/pmc/articles/PMC7304894" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29705380">Allergic skin diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lang DM,
Fineman SM,
Khan DA,
Tilles SA</span><br />
<span class="medgenPMjournal">Ann Allergy Asthma Immunol</span>
2018 Jun;120(6):580-582.
Epub 2018 Apr 26
doi: 10.1016/j.anai.2018.04.019.
<span class="bold">PMID: </span><a href="/pubmed/29705380" target="_blank">29705380</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27886913">Biologics in Chronic Urticaria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bulkhi A,
Cooke AJ,
Casale TB</span><br />
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
2017 Feb;37(1):95-112.
Epub 2016 Oct 28
doi: 10.1016/j.iac.2016.08.004.
<span class="bold">PMID: </span><a href="/pubmed/27886913" target="_blank">27886913</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Urticaria%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 (7637)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32143431">Immunoglobulin E (IgE)-Mediated Food Allergy in Children: Epidemiology, Pathogenesis, Diagnosis, Prevention, and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barni S,
Liccioli G,
Sarti L,
Giovannini M,
Novembre E,
Mori F</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2020 Mar 4;56(3)
doi: 10.3390/medicina56030111.
<span class="bold">PMID: </span><a href="/pubmed/32143431" target="_blank">32143431</a><a href="/pmc/articles/PMC7142605" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30931482">European S2k Guideline on Chronic Pruritus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weisshaar E,
Szepietowski JC,
Dalgard FJ,
Garcovich S,
Gieler U,
Giménez-Arnau AM,
Lambert J,
Leslie T,
Mettang T,
Misery L,
Şavk E,
Streit M,
Tschachler E,
Wallengren J,
Ständer S</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2019 Apr 1;99(5):469-506.
doi: 10.2340/00015555-3164.
<span class="bold">PMID: </span><a href="/pubmed/30931482" target="_blank">30931482</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24738945">Periorbital edema.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jaeger T,
Mourantchanian V,
Gutermuth J,
Hein R,
Andres C,
Ring J,
Brockow K</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
2014 Aug;53(8):937-9.
Epub 2014 Apr 16
doi: 10.1111/ijd.12478.
<span class="bold">PMID: </span><a href="/pubmed/24738945" target="_blank">24738945</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17724569">Gentamicin-induced anaphylaxis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Connolly M,
McAdoo J,
Bourke JF</span><br />
<span class="medgenPMjournal">Ir J Med Sci</span>
2007 Dec;176(4):317-8.
Epub 2007 Aug 28
doi: 10.1007/s11845-007-0077-z.
<span class="bold">PMID: </span><a href="/pubmed/17724569" target="_blank">17724569</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9654948">Urticaria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weston WL,
Badgett JT</span><br />
<span class="medgenPMjournal">Pediatr Rev</span>
1998 Jul;19(7):240-4.
doi: 10.1542/pir.19-7-240.
<span class="bold">PMID: </span><a href="/pubmed/9654948" target="_blank">9654948</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Urticaria%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 (1875)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37866460">Remibrutinib demonstrates favorable safety profile and sustained efficacy in chronic spontaneous urticaria over 52 weeks.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jain V,
Giménez-Arnau A,
Hayama K,
Reich A,
Carr W,
Tillinghast J,
Dahale S,
Lheritier K,
Walsh P,
Zharkov A,
Hugot S,
Haemmerle S</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
2024 Feb;153(2):479-486.e4.
Epub 2023 Oct 20
doi: 10.1016/j.jaci.2023.10.007.
<span class="bold">PMID: </span><a href="/pubmed/37866460" target="_blank">37866460</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35914662">Omalizumab for treatment of idiopathic angioedema.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goswamy VP,
Lee KE,
McKernan EM,
Fichtinger PS,
Mathur SK,
Viswanathan RK</span><br />
<span class="medgenPMjournal">Ann Allergy Asthma Immunol</span>
2022 Nov;129(5):605-611.e1.
Epub 2022 Jul 30
doi: 10.1016/j.anai.2022.07.017.
<span class="bold">PMID: </span><a href="/pubmed/35914662" target="_blank">35914662</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32418171">Omalizumab Updosing in Chronic Spontaneous Urticaria: an Overview of Real-World Evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Metz M,
Vadasz Z,
Kocatürk E,
Giménez-Arnau AM</span><br />
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
2020 Aug;59(1):38-45.
doi: 10.1007/s12016-020-08794-6.
<span class="bold">PMID: </span><a href="/pubmed/32418171" target="_blank">32418171</a><a href="/pmc/articles/PMC7351799" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30931482">European S2k Guideline on Chronic Pruritus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weisshaar E,
Szepietowski JC,
Dalgard FJ,
Garcovich S,
Gieler U,
Giménez-Arnau AM,
Lambert J,
Leslie T,
Mettang T,
Misery L,
Şavk E,
Streit M,
Tschachler E,
Wallengren J,
Ständer S</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2019 Apr 1;99(5):469-506.
doi: 10.2340/00015555-3164.
<span class="bold">PMID: </span><a href="/pubmed/30931482" target="_blank">30931482</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28543019">The burden of chronic spontaneous urticaria is substantial: Real-world evidence from ASSURE-CSU.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maurer M,
Abuzakouk M,
Bérard F,
Canonica W,
Oude Elberink H,
Giménez-Arnau A,
Grattan C,
Hollis K,
Knulst A,
Lacour JP,
Lynde C,
Marsland A,
McBride D,
Nakonechna A,
Ortiz de Frutos J,
Proctor C,
Sussman G,
Sweeney C,
Tian H,
Weller K,
Wolin D,
Balp MM</span><br />
<span class="medgenPMjournal">Allergy</span>
2017 Dec;72(12):2005-2016.
Epub 2017 Jul 10
doi: 10.1111/all.13209.
<span class="bold">PMID: </span><a href="/pubmed/28543019" target="_blank">28543019</a><a href="/pmc/articles/PMC5724512" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Urticaria%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 (2782)</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/38420865">Treatment of acute urticaria: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Badloe FMS,
Grosber M,
Ring J,
Kortekaas Krohn I,
Gutermuth J</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2024 Nov;38(11):2082-2092.
Epub 2024 Feb 29
doi: 10.1111/jdv.19904.
<span class="bold">PMID: </span><a href="/pubmed/38420865" target="_blank">38420865</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37189381">Dupilumab in Inflammatory Skin Diseases: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Olbrich H,
Sadik CD,
Ludwig RJ,
Thaçi D,
Boch K</span><br />
<span class="medgenPMjournal">Biomolecules</span>
2023 Mar 31;13(4)
doi: 10.3390/biom13040634.
<span class="bold">PMID: </span><a href="/pubmed/37189381" target="_blank">37189381</a><a href="/pmc/articles/PMC10136243" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33653974">Critical Care Management of the Patient With Anaphylaxis: A Concise Definitive Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Krishnaswamy G</span><br />
<span class="medgenPMjournal">Crit Care Med</span>
2021 May 1;49(5):838-857.
doi: 10.1097/CCM.0000000000004893.
<span class="bold">PMID: </span><a href="/pubmed/33653974" target="_blank">33653974</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31494963">Prevalence of chronic urticaria in children and adults across the globe: Systematic review with meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fricke J,
Ávila G,
Keller T,
Weller K,
Lau S,
Maurer M,
Zuberbier T,
Keil T</span><br />
<span class="medgenPMjournal">Allergy</span>
2020 Feb;75(2):423-432.
Epub 2019 Oct 11
doi: 10.1111/all.14037.
<span class="bold">PMID: </span><a href="/pubmed/31494963" target="_blank">31494963</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30268388">Treatment of urticarial vasculitis: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kolkhir P,
Grakhova M,
Bonnekoh H,
Krause K,
Maurer M</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
2019 Feb;143(2):458-466.
Epub 2018 Sep 27
doi: 10.1016/j.jaci.2018.09.007.
<span class="bold">PMID: </span><a href="/pubmed/30268388" target="_blank">30268388</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Urticaria%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 (192)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0042109%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
<li><a href="/gtr/tests?term=C0042109%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0042109%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Urticaria" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22urticaria%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(%22Urticaria%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></div>
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