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<!--
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UID=5023
|
||
ConceptID=C0014848
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Achalasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5023</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0014848</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>Achalasia of esophagus; Esophageal achalasia; Primary achalasia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Cardiospasm (45564002); Achalasia of cardia (45564002); Lack of reflex relaxation of lower esophageal sphincter (45564002); Achalasia of esophagus (45564002)</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:0002571">HP:0002571</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008698" target="_blank">MONDO:0008698</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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=C0014848[DISCUI]&test_type=Clinical" ref="ncbi_uid=5023">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&from_uid=5023" ref="ncbi_uid=5023">V</a></span></span><span class="TLline">Achalasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/78584" ref="tree=MeSH" title="MedGen record for Abnormality of the digestive system">Abnormality of the digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/927601" ref="tree=MeSH" title="MedGen record for Abnormality of digestive system physiology">Abnormality of digestive system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868361" ref="tree=MeSH" title="MedGen record for Functional abnormality of the gastrointestinal tract">Functional abnormality of the gastrointestinal tract</a></span><ul><li><span class="TLline"><a href="/medgen/1370638" ref="tree=MeSH" title="MedGen record for Abnormal esophagus physiology">Abnormal esophagus physiology</a></span><ul><li><span class="TLline"><a href="/medgen/41440" ref="tree=MeSH" title="MedGen record for Dysphagia">Dysphagia</a></span><ul><li><span class="TLline"><a href="/medgen/41868" ref="tree=MeSH" title="MedGen record for Dyskinesia of esophagus">Dyskinesia of esophagus</a></span><ul><li><span class="matched_ds">Achalasia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<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>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_82889"><div><strong>Glucocorticoid deficiency with achalasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82889</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0271742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood glucose (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.\n\nMany of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).\n\nPeople with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time.\n\nPeople with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition.\n\nAlacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82889">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318752"><div><strong>Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318752</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832950</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/318752">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324636"><div><strong>Posterior column ataxia-retinitis pigmentosa syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324636</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836916</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinopathy-sensory neuropathy syndrome (RETSNS) is an autosomal recessive disorder characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain). Affected individuals have noncerebellar gait ataxia, presumably due to degeneration of dorsal root ganglia in the posterior column of the spinal cord. The phenotypic manifestations and severity of the disorder are highly variable, and the age at onset can range from infancy to young adulthood. Individuals can present with either visual problems or sensory impairment with gait ataxia, but most patients eventually develop both. More severely affected individuals have congenital insensitivity to pain presenting in infancy, resulting in chronic ulceration and osteomyelitis. Autonomic abnormalities may also be apparent, consistent with hereditary sensory and autonomic neuropathy (HSAN; see, e.g., 162400). Developmental delay or impaired intellectual development is sometimes observed (Higgins et al., 1997; Grudzinska Pechhacker et al., 2020; Calame et al., 2025).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324636">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347427"><div><strong>Deafness-vitiligo-achalasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347427</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347427">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349753"><div><strong>Achalasia microcephaly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860212</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare genetic syndrome, reported in a few families to date with characteristics of the association of microcephaly, intellectual deficit and achalasia. Symptoms of achalasia include coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349753">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395436"><div><strong>Achalasia, familial esophageal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395436</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860213</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (summary by Farrokhi and Vaezi, 2007 and Gockel et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395436">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477091"><div><strong>Syndromic X-linked intellectual disability 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477091</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3275460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477091">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816733"><div><strong>Moyamoya disease with early-onset achalasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816733</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3810403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Moyamoya disease-6 (MYMY6) is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory neovascularization and the moyamoya, or 'puff of smoke,' appearance of these vessels on angiogram. Affected individuals may present with ischemic strokes, intracerebral hemorrhage, or transient ischemic attacks. Patients with MYMY6 usually present early in life with achalasia. Hypertension and Raynaud phenomenon may be associated features (summary by Wallace et al., 2016; Herve et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816733">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863232"><div><strong>STAT3-related early-onset multisystem autoimmune disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014795</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-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune Disease See also ADMIO2 (617006), caused by mutation in the ZAP70 gene (176947) on chromosome 2q12, and ADMIO3 (620430), caused by mutation in the CBLB gene (604491) on chromosome 3q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863379"><div><strong>Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863379</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CAGSSS, which comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, is an autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. Not all of these features are always present, and almost all the features may present at different times and/or become more apparent with age. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD) (summary by Vona et al., 2018). One family had a distinctive presentation with infantile-onset intractable seizures and cortical abnormalities reminiscent of Leigh syndrome (see 256000). The correlation between genotype and phenotype remains unclear, but since the IARS2 gene is involved in mitochondrial function, heterogeneous manifestations can be expected (Takezawa et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863379">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_891117"><div><strong>Glucocorticoid deficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>891117</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4049714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by Metherell et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/891117">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924576"><div><strong>MIRAGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924576</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4284088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924576">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1385598"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type R18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385598</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4517996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-18 (LGMDR18) is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1640947"><div><strong>Alacrima, achalasia, and intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640947</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4706563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (231550), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013). See also 300858 for a phenotypically similar disorder that shows X-linked inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640947">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1740270"><div><strong>Immunodeficiency 70</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1740270</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436501</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections, such as sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia has also been observed (summary by Thaventhiran et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1740270">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794173"><div><strong>Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794173</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital central hypoventilation syndrome-2 and autonomic dysfunction (CCHS2) is an autosomal recessive disorder characterized by shallow breathing and apneic spells apparent in the neonatal period. Affected infants require mechanical ventilation due to impaired ventilatory response to hypercapnia, as well as tube feeding due to poor swallowing, aspiration, and gastrointestinal dysmotility. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation. Although mild global developmental delay with learning difficulties and seizures were present in the single family reported, it was unclear if these features were related to the hypoventilation phenotype (Spielmann et al., 2017). For a discussion of genetic heterogeneity of CCHS, see CCHS1 (209880).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794173">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1848671"><div><strong>Developmental malformations-deafness-dystonia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848671</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5848323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1848671">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achalasia microcephaly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achalasia, familial esophageal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640947" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alacrima, achalasia, and intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1385598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type R18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794173" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347427" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deafness-vitiligo-achalasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental malformations-deafness-dystonia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_891117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucocorticoid deficiency 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucocorticoid deficiency with achalasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1740270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 70</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924576" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MIRAGE syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816733" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Moyamoya disease with early-onset achalasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior column ataxia-retinitis pigmentosa syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">STAT3-related early-onset multisystem autoimmune disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability 17</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/35123084">AGA Clinical Practice Update on the Personalized Approach to the Evaluation and Management of GERD: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yadlapati R,
|
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Gyawali CP,
|
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Pandolfino JE;
|
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CGIT GERD Consensus Conference Participants</span><br />
|
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<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
|
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2022 May;20(5):984-994.e1.
|
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Epub 2022 Feb 2
|
||
doi: 10.1016/j.cgh.2022.01.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35123084" target="_blank">35123084</a><a href="/pmc/articles/PMC9838103" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33448766">Dysphagia: Evaluation and Collaborative Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilkinson JM,
|
||
Codipilly DC,
|
||
Wilfahrt RP</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2021 Jan 15;103(2):97-106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33448766" target="_blank">33448766</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32773454">ACG Clinical Guidelines: Diagnosis and Management of Achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaezi MF,
|
||
Pandolfino JE,
|
||
Yadlapati RH,
|
||
Greer KB,
|
||
Kavitt RT</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2020 Sep;115(9):1393-1411.
|
||
doi: 10.14309/ajg.0000000000000731.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32773454" target="_blank">32773454</a><a href="/pmc/articles/PMC9896940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22achalasia%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 (484)</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/24304406">Peroral endoscopic myotomy for achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bredenoord AJ,
|
||
Rösch T,
|
||
Fockens P</span><br />
|
||
<span class="medgenPMjournal">Neurogastroenterol Motil</span>
|
||
2014 Jan;26(1):3-12.
|
||
Epub 2013 Nov 7
|
||
doi: 10.1111/nmo.12257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24304406" target="_blank">24304406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23871090">Achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boeckxstaens GE,
|
||
Zaninotto G,
|
||
Richter JE</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2014 Jan 4;383(9911):83-93.
|
||
Epub 2013 Jul 17
|
||
doi: 10.1016/S0140-6736(13)60651-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23871090" target="_blank">23871090</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20600038">Achalasia: update on the disease and its treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Francis DL,
|
||
Katzka DA</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2010 Aug;139(2):369-74.
|
||
Epub 2010 Jun 18
|
||
doi: 10.1053/j.gastro.2010.06.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20600038" target="_blank">20600038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15927645">Achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woltman TA,
|
||
Pellegrini CA,
|
||
Oelschlager BK</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2005 Jun;85(3):483-93.
|
||
doi: 10.1016/j.suc.2005.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15927645" target="_blank">15927645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1929039">Hiccups and achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seeman H,
|
||
Traube M</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
1991 Nov 1;115(9):711-2.
|
||
doi: 10.7326/0003-4819-115-9-711.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1929039" target="_blank">1929039</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Achalasia%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 (2422)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39222537">Achalasia: Pinstripe pattern.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kajihara Y</span><br />
|
||
<span class="medgenPMjournal">Natl Med J India</span>
|
||
2024 Mar-Apr;37(2):114.
|
||
doi: 10.25259/NMJI_144_2023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39222537" target="_blank">39222537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37188374">Achalasia with megaesophagus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang CF,
|
||
Chua C</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2023 May 15;195(19):E684.
|
||
doi: 10.1503/cmaj.230111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37188374" target="_blank">37188374</a><a href="/pmc/articles/PMC10185364" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32773454">ACG Clinical Guidelines: Diagnosis and Management of Achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaezi MF,
|
||
Pandolfino JE,
|
||
Yadlapati RH,
|
||
Greer KB,
|
||
Kavitt RT</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2020 Sep;115(9):1393-1411.
|
||
doi: 10.14309/ajg.0000000000000731.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32773454" target="_blank">32773454</a><a href="/pmc/articles/PMC9896940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17643903">Achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boeckxstaens GE</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
|
||
2007;21(4):595-608.
|
||
doi: 10.1016/j.bpg.2007.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17643903" target="_blank">17643903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4165418">Achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silber W</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1965 Dec 18;2(7425):1287-9.
|
||
doi: 10.1016/s0140-6736(65)92302-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4165418" target="_blank">4165418</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Achalasia%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 (2732)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33128887">Peroral Esophageal Myotomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drexel S,
|
||
Kishawi S,
|
||
Marks J</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2020 Dec;100(6):1183-1192.
|
||
Epub 2020 Oct 10
|
||
doi: 10.1016/j.suc.2020.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33128887" target="_blank">33128887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29712594">POEM for Achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kroch DA,
|
||
Grimm IS</span><br />
|
||
<span class="medgenPMjournal">Am Surg</span>
|
||
2018 Apr 1;84(4):489-495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29712594" target="_blank">29712594</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28075104">Esophageal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Short MW,
|
||
Burgers KG,
|
||
Fry VT</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Jan 1;95(1):22-28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28075104" target="_blank">28075104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25965233">Achalasia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pandolfino JE,
|
||
Gawron AJ</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2015 May 12;313(18):1841-52.
|
||
doi: 10.1001/jama.2015.2996.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25965233" target="_blank">25965233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4165418">Achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silber W</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1965 Dec 18;2(7425):1287-9.
|
||
doi: 10.1016/s0140-6736(65)92302-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4165418" target="_blank">4165418</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Achalasia%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 (1509)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28797340">Per-Oral Esophageal Myotomy: Is It a Safe and Durable Procedure for Achalasia?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hungness ES,
|
||
Jorge JM</span><br />
|
||
<span class="medgenPMjournal">Adv Surg</span>
|
||
2017 Sep;51(1):193-205.
|
||
Epub 2017 May 2
|
||
doi: 10.1016/j.yasu.2017.03.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28797340" target="_blank">28797340</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22869049">Achalasia cardia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rai P,
|
||
Chakraborty SD</span><br />
|
||
<span class="medgenPMjournal">Indian J Gastroenterol</span>
|
||
2012 Sep;31(5):282.
|
||
doi: 10.1007/s12664-012-0235-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22869049" target="_blank">22869049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11463968">Congenital cricopharyngeal achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathur NB,
|
||
Banerjee S,
|
||
Maria A,
|
||
Bhatnagar V</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2001 Jul;38(7):783-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11463968" target="_blank">11463968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11355914">Squamous cell cancer of the oesophagus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Messmann H</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
|
||
2001 Apr;15(2):249-65.
|
||
doi: 10.1053/bega.2000.0172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11355914" target="_blank">11355914</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10427495">Congenital esophageal stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diab N,
|
||
Daher P,
|
||
Ghorayeb Z,
|
||
Korkmaz G</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
1999 Jun;9(3):177-81.
|
||
doi: 10.1055/s-2008-1072237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10427495" target="_blank">10427495</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Achalasia%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 (1291)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37897117">Mini-review: Tailored per-oral endoscopic myotomy for type III achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srinivasan V,
|
||
Shah ED</span><br />
|
||
<span class="medgenPMjournal">Neurogastroenterol Motil</span>
|
||
2023 Dec;35(12):e14700.
|
||
Epub 2023 Oct 27
|
||
doi: 10.1111/nmo.14700.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37897117" target="_blank">37897117</a><a href="/pmc/articles/PMC10851349" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32885362">Clinical Success and Correlation of Eckardt Scores with Barium Esophagram After Peroral Endoscopic Myotomy in Achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanaka MR,
|
||
Chadalavada P,
|
||
Covut F,
|
||
Khoudari G,
|
||
Gabbard S,
|
||
Thota PN,
|
||
Raja S</span><br />
|
||
<span class="medgenPMjournal">J Gastrointest Surg</span>
|
||
2021 Jan;25(1):278-281.
|
||
Epub 2020 Sep 3
|
||
doi: 10.1007/s11605-020-04763-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32885362" target="_blank">32885362</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32315561">POEM for Esophageal Achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holmstrom AL,
|
||
Hungness ES</span><br />
|
||
<span class="medgenPMjournal">J Laparoendosc Adv Surg Tech A</span>
|
||
2020 Jun;30(6):635-638.
|
||
Epub 2020 Apr 21
|
||
doi: 10.1089/lap.2020.0159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32315561" target="_blank">32315561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29804476">Esophageal achalasia: current diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schlottmann F,
|
||
Patti MG</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Gastroenterol Hepatol</span>
|
||
2018 Jul;12(7):711-721.
|
||
Epub 2018 Jun 8
|
||
doi: 10.1080/17474124.2018.1481748.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29804476" target="_blank">29804476</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29766515">Results of pneumatic dilation in treating achalasia: predictive factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felix VN</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2018 Dec;1434(1):124-131.
|
||
Epub 2018 May 16
|
||
doi: 10.1111/nyas.13844.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29766515" target="_blank">29766515</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Achalasia%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 (1530)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35798336">Long-term outcomes of peroral endoscopic myotomy for achalasia: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vespa E,
|
||
Pellegatta G,
|
||
Chandrasekar VT,
|
||
Spadaccini M,
|
||
Patel H,
|
||
Maselli R,
|
||
Galtieri PA,
|
||
Carlani E,
|
||
Sharma P,
|
||
Hassan C,
|
||
Repici A</span><br />
|
||
<span class="medgenPMjournal">Endoscopy</span>
|
||
2023 Feb;55(2):167-175.
|
||
Epub 2022 Jul 7
|
||
doi: 10.1055/a-1894-0147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35798336" target="_blank">35798336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32132346">Quality of Life Following Peroral Endoscopic Myotomy for Esophageal Achalasia: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhong C,
|
||
Tan S,
|
||
Ren Y,
|
||
Lü M,
|
||
Peng Y,
|
||
Fu X,
|
||
Tang X</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Cardiovasc Surg</span>
|
||
2020 Jun 20;26(3):113-124.
|
||
Epub 2020 Mar 4
|
||
doi: 10.5761/atcs.ra.19-00273.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32132346" target="_blank">32132346</a><a href="/pmc/articles/PMC7303313" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31839408">ASGE guideline on the management of achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khashab MA,
|
||
Vela MF,
|
||
Thosani N,
|
||
Agrawal D,
|
||
Buxbaum JL,
|
||
Abbas Fehmi SM,
|
||
Fishman DS,
|
||
Gurudu SR,
|
||
Jamil LH,
|
||
Jue TL,
|
||
Kannadath BS,
|
||
Law JK,
|
||
Lee JK,
|
||
Naveed M,
|
||
Qumseya BJ,
|
||
Sawhney MS,
|
||
Yang J,
|
||
Wani S</span><br />
|
||
<span class="medgenPMjournal">Gastrointest Endosc</span>
|
||
2020 Feb;91(2):213-227.e6.
|
||
Epub 2019 Dec 13
|
||
doi: 10.1016/j.gie.2019.04.231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31839408" target="_blank">31839408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31403982">Evaluation and Management of Premalignant Conditions of the Esophagus: A Systematic Survey of International Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramai D,
|
||
Lai JK,
|
||
Ofori E,
|
||
Linn S,
|
||
Reddy M</span><br />
|
||
<span class="medgenPMjournal">J Clin Gastroenterol</span>
|
||
2019 Oct;53(9):627-634.
|
||
doi: 10.1097/MCG.0000000000001247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31403982" target="_blank">31403982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25965233">Achalasia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pandolfino JE,
|
||
Gawron AJ</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2015 May 12;313(18):1841-52.
|
||
doi: 10.1001/jama.2015.2996.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25965233" target="_blank">25965233</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Achalasia%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 (108)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0014848%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
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<li><a href="/gtr/tests?term=C0014848%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
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