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<meta name="keywords" content="C1970269, blt syndrome, brain lung thyroid syndrome, brain-lung-thyroid syndrome, cahtp, choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, choreoathetosis and congenital hypothyroidism with pulmonary dysfunction, choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, choreoathetosis, hypothyroidism, and neonatal respiratory distress, choreoathetosis-hypothyroidism-neonatal respiratory distress, choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome, disease or syndrome, nkx2-1, 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="NKX2-1-related disorders range from benign hereditary chorea (BHC) to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome (also known as brain-lung-thyroid syndrome). Childhood-onset chorea, the hallmark feature of NKX2-1-related disorders, may or may not be associated with pulmonary disease or congenital hypothyroidism. Age of onset of chorea varies from early infancy (most commonly) to late childhood or adolescence and may progress into the second decade, after which it remains static or (rarely) remits. Pulmonary disease, the second most common manifestation, can include respiratory distress syndrome in neonates, interstitial lung disease in young children, and pulmonary fibrosis in older individuals. The risk for pulmonary carcinoma is increased in young adults with NKX2-1-related disorders. Thyroid dysfunction, occurring as a result of thyroid dysgenesis, can present as congenital or compensated hypothyroidism. In one review, 50% of affected individuals had the full brain-lung-thyroid syndrome, 30% had brain and thyroid involvement only, and 13% had chorea only." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Brain-lung-thyroid syndrome (Concept Id: C1970269)
- MedGen - NCBI</title>
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<!--
UID=369694
ConceptID=C1970269
-->
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK185066/bin/nkx2-1-dis-Image001.gif" src-large="/books/NBK185066/bin/nkx2-1-dis-Image001.jpg" /></a><br /><a href="/books/NBK185066/figure/nkx2-1-dis.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Brain-lung-thyroid syndrome<span class="h1sub">(CAHTP)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369694</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:">C1970269</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>CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION; Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress; Choreoathetosis, hypothyroidism, and neonatal respiratory distress</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (719098007); Brain lung thyroid syndrome (719098007)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="NKX2-1 - ID: 7080 - NCBI Gene" href="/gene/7080" class="medgenPMinfo">NKX2-1</a> (14q13.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0012593" target="_blank">MONDO:0012593</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/610978" target="_blank">610978</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=209905">ORPHA209905</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK185066" target="_blank">NKX2-1-Related Disorders</a></div><div>NKX2-1-related disorders range from benign hereditary chorea (BHC) to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome (also known as brain-lung-thyroid syndrome). Childhood-onset chorea, the hallmark feature of NKX2-1-related disorders, may or may not be associated with pulmonary disease or congenital hypothyroidism. Age of onset of chorea varies from early infancy (most commonly) to late childhood or adolescence and may progress into the second decade, after which it remains static or (rarely) remits. Pulmonary disease, the second most common manifestation, can include respiratory distress syndrome in neonates, interstitial lung disease in young children, and pulmonary fibrosis in older individuals. The risk for pulmonary carcinoma is increased in young adults with NKX2-1-related disorders. Thyroid dysfunction, occurring as a result of thyroid dysgenesis, can present as congenital or compensated hypothyroidism. In one review, 50% of affected individuals had the full brain-lung-thyroid syndrome, 30% had brain and thyroid involvement only, and 13% had chorea only. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.Summary" target="NBK185066">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.GeneReview_Scope" target="NBK185066">GeneReview Scope</a>  |  <a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.Diagnosis" target="NBK185066">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.Clinical_Characteristics" target="NBK185066">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.Genetically_Related_Allelic_D" target="NBK185066">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.Differential_Diagnosis" target="NBK185066">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.Management" target="NBK185066">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.Genetic_Counseling" target="NBK185066">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.Resources" target="NBK185066">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.Molecular_Genetics" target="NBK185066">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.Chapter_Notes" target="NBK185066">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK185066#nkx2-1-dis.References" target="NBK185066">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Neepa Jayant Patel  |  Joseph Jankovic   <a href="/books/NBK185066" target="NBK185066" title="NCBI Bookshelf: NKX2-1-Related Disorders">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) is an autosomal dominant disorder characterized by onset of this triad of features in infancy. Movement abnormalities begin with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. Some patients show neonatal respiratory distress and developmental delay. The phenotype is variable both between and within families (summary by Thorwarth et al., 2014).  <a target="_blank" href="http://www.omim.org/entry/610978">http://www.omim.org/entry/610978</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Thyroid problems are the next most common feature of brain-lung-thyroid syndrome. The thyroid gland makes hormones that help regulate a wide variety of critical body functions, including growth, brain development, and the rate of chemical reactions in the body (metabolism). Many affected individuals have reduced thyroid function from birth (congenital hypothyroidism), resulting in lower-than-normal levels of thyroid hormones. Others have a milder condition called compensated or subclinical hypothyroidism, in which thyroid hormone levels are within the normal range, even though the thyroid is not functioning properly. While most people with brain-lung-thyroid syndrome have a normal-sized thyroid, the gland is reduced in size (hypoplastic) or absent (aplastic) in some affected individuals. Although a shortage of thyroid hormones can cause intellectual disability and other neurological problems, it is unclear whether such issues in individuals with brain-lung-thyroid syndrome are due to hypothyroidism or to the brain abnormalities related to the condition.<br /><br />Nearly everyone with brain-lung-thyroid syndrome has brain-related movement abnormalities. Benign hereditary chorea is the most common feature of the syndrome. This feature is associated with involuntary jerking movements (chorea) of the face, torso, and limbs; writhing movements (athetosis) of the limbs; and other movement problems. Individuals with brain-lung-thyroid syndrome can have other abnormalities, such as difficulty coordinating movements (ataxia), muscle twitches (myoclonus), and involuntary muscle contractions that result in twisting and repetitive movements (dystonia). The movement problems typically begin around age 1, although they can begin in early infancy or later in life, and are often preceded by weak muscle tone (hypotonia). They can delay the development of walking. The movement problems usually remain stable and can improve over time. Some affected individuals also have learning difficulties or intellectual disability.<br /><br />Lung problems are common in brain-lung-thyroid syndrome. Some affected newborns have respiratory distress syndrome, which causes extreme difficulty breathing and can be life-threatening. Other affected individuals develop widespread lung damage (interstitial lung disease) or scarring in the lungs (pulmonary fibrosis), both of which can also lead to breathing problems. Recurrent lung infections, which can be life-threatening, also occur in people with brain-lung-thyroid syndrome. People with brain-lung-thyroid syndrome have a higher risk of developing lung cancer than do people in the general population.<br /><br />Brain-lung-thyroid syndrome is a group of conditions that affect the brain, lungs, and thyroid gland (a butterfly-shaped gland in the lower neck). Brain-lung-thyroid syndrome historically included problems with all three organs, although the designation now encompasses a combination of brain, lung, and thyroid problems. About 50 percent of affected individuals have problems with all three organs, about 30 percent have brain and thyroid problems, and about 10 percent have brain and lung problems. The brain alone is affected in 10 to 20 percent of people with the condition. Such cases are sometimes called isolated benign hereditary chorea.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/brain-lung-thyroid-syndrome">https://medlineplus.gov/genetics/condition/brain-lung-thyroid-syndrome</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_6753"><div><strong>Atrial septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6753</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.">C0018817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6753">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%22%5BClinical%20Features%5D%20OR%206753%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</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.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3043"><div><strong>Cholesteatoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3043</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.">C0008373</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3043">Feature record</a> | <a href="/medgen?term=%22Cholesteatoma%22%5BClinical%20Features%5D%20OR%203043%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_52372"><div><strong>Sleep abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52372</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.">C0037317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal pattern in the quality, quantity, or characteristics of sleep.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52372">Feature record</a> | <a href="/medgen?term=%22Sleep%20abnormality%22%5BClinical%20Features%5D%20OR%2052372%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39313"><div><strong>Choreoathetosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39313</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.">C0085583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39313">Feature record</a> | <a href="/medgen?term=%22Choreoathetosis%22%5BClinical%20Features%5D%20OR%2039313%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_167799"><div><strong>Broad-based gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167799</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.">C0856863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/167799">Feature record</a> | <a href="/medgen?term=%22Broad-based%20gait%22%5BClinical%20Features%5D%20OR%20167799%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1632671"><div><strong>Gonadotropin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632671</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.">C4552011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1632671">Feature record</a> | <a href="/medgen?term=%22Gonadotropin%20deficiency%22%5BClinical%20Features%5D%20OR%201632671%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_13946"><div><strong>Atelectasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13946</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.">C0004144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Collapse of part of a lung associated with absence of inflation (air) of that part.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/13946">Feature record</a> | <a href="/medgen?term=%22Atelectasis%22%5BClinical%20Features%5D%20OR%2013946%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_41325"><div><strong>Cough</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41325</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.">C0010200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41325">Feature record</a> | <a href="/medgen?term=%22Cough%22%5BClinical%20Features%5D%20OR%2041325%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_11028"><div><strong>Pulmonary fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11028</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.">C0034069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Replacement of normal lung tissues by fibroblasts and collagen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11028">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20fibrosis%22%5BClinical%20Features%5D%20OR%2011028%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_11118"><div><strong>Crackles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11118</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.">C0034642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11118">Feature record</a> | <a href="/medgen?term=%22Crackles%22%5BClinical%20Features%5D%20OR%2011118%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21917"><div><strong>Wheezing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21917</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.">C0043144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A high-pitched whistling sound associated with labored breathing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21917">Feature record</a> | <a href="/medgen?term=%22Wheezing%22%5BClinical%20Features%5D%20OR%2021917%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66669"><div><strong>Tachypnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66669</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.">C0231835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Very rapid breathing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66669">Feature record</a> | <a href="/medgen?term=%22Tachypnea%22%5BClinical%20Features%5D%20OR%2066669%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116009"><div><strong>Pulmonary infiltrates</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116009</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.">C0235896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116009">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20infiltrates%22%5BClinical%20Features%5D%20OR%20116009%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_96907"><div><strong>Respiratory distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96907</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.">C0476273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96907">Feature record</a> | <a href="/medgen?term=%22Respiratory%20distress%22%5BClinical%20Features%5D%20OR%2096907%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_152145"><div><strong>Hypoxemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152145</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.">C0700292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally low level of blood oxygen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/152145">Feature record</a> | <a href="/medgen?term=%22Hypoxemia%22%5BClinical%20Features%5D%20OR%20152145%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_478856"><div><strong>Restrictive ventilatory defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478856</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.">C3277226</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/478856">Feature record</a> | <a href="/medgen?term=%22Restrictive%20ventilatory%20defect%22%5BClinical%20Features%5D%20OR%20478856%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_812812"><div><strong>Recurrent respiratory infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812812</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.">C3806482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/812812">Feature record</a> | <a href="/medgen?term=%22Recurrent%20respiratory%20infections%22%5BClinical%20Features%5D%20OR%20812812%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_894519"><div><strong>Oxygen desaturation on exertion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894519</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.">C4280731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/894519">Feature record</a> | <a href="/medgen?term=%22Oxygen%20desaturation%20on%20exertion%22%5BClinical%20Features%5D%20OR%20894519%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_924182"><div><strong>Neonatal respiratory distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924182</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.">C4281993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Respiratory difficulty as newborn.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/924182">Feature record</a> | <a href="/medgen?term=%22Neonatal%20respiratory%20distress%22%5BClinical%20Features%5D%20OR%20924182%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1374982"><div><strong>Cystic pattern on pulmonary HRCT</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1374982</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.">C4476752</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1374982">Feature record</a> | <a href="/medgen?term=%22Cystic%20pattern%20on%20pulmonary%20HRCT%22%5BClinical%20Features%5D%20OR%201374982%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1687071"><div><strong>Parenchymal consolidation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1687071</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.">C5139174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1687071">Feature record</a> | <a href="/medgen?term=%22Parenchymal%20consolidation%22%5BClinical%20Features%5D%20OR%201687071%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1713125"><div><strong>Elevated bronchoalveolar lavage fluid lymphocyte proportion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1713125</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.">C5397968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1713125">Feature record</a> | <a href="/medgen?term=%22Elevated%20bronchoalveolar%20lavage%20fluid%20lymphocyte%20proportion%22%5BClinical%20Features%5D%20OR%201713125%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1710230"><div><strong>Elevated bronchoalveolar lavage fluid neutrophil proportion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710230</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.">C5397969</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1710230">Feature record</a> | <a href="/medgen?term=%22Elevated%20bronchoalveolar%20lavage%20fluid%20neutrophil%20proportion%22%5BClinical%20Features%5D%20OR%201710230%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1779663"><div><strong>Ground-glass opacification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779663</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.">C5539411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1779663">Feature record</a> | <a href="/medgen?term=%22Ground-glass%20opacification%22%5BClinical%20Features%5D%20OR%201779663%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2109"><div><strong>Asthma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2109</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.">C0004096</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2109">Feature record</a> | <a href="/medgen?term=%22Asthma%22%5BClinical%20Features%5D%20OR%202109%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_41344"><div><strong>Congenital hypothyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41344</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.">C0010308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41344">Feature record</a> | <a href="/medgen?term=%22Congenital%20hypothyroidism%22%5BClinical%20Features%5D%20OR%2041344%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_473011"><div><strong>Compensated hypothyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473011</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.">C0271790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/473011">Feature record</a> | <a href="/medgen?term=%22Compensated%20hypothyroidism%22%5BClinical%20Features%5D%20OR%20473011%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_108325"><div><strong>Elevated circulating thyroid-stimulating hormone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108325</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.">C0586553</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/108325">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20thyroid-stimulating%20hormone%20concentration%22%5BClinical%20Features%5D%20OR%20108325%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1784655"><div><strong>Decreased response to growth hormone stimulation test</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784655</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.">C5539399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1784655">Feature record</a> | <a href="/medgen?term=%22Decreased%20response%20to%20growth%20hormone%20stimulation%20test%22%5BClinical%20Features%5D%20OR%201784655%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Compensated hypothyroidism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital hypothyroidism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1784655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased response to growth hormone stimulation test</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating thyroid-stimulating hormone concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Asthma</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad-based gait</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choreoathetosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1632671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gonadotropin deficiency</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sleep abnormality</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13946" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atelectasis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cough</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11118" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Crackles</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1374982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystic pattern on pulmonary HRCT</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1713125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated bronchoalveolar lavage fluid lymphocyte proportion</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1710230" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated bronchoalveolar lavage fluid neutrophil proportion</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1779663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ground-glass opacification</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_152145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoxemia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_924182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal respiratory distress</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_894519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oxygen desaturation on exertion</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1687071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parenchymal consolidation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary infiltrates</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent respiratory infections</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory distress</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_478856" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restrictive ventilatory defect</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66669" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tachypnea</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wheezing</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholesteatoma</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970269[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=369694">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369694" target="_blank" href="/omim/610978">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK185066/" ref="ncbi_uid=369694">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=369694" ref="ncbi_uid=369694">V</a></span></span><span class="TLline">Brain-lung-thyroid syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843137" ref="tree=MeSH" title="MedGen record for Neurodegenerative disease with chorea">Neurodegenerative disease with chorea</a></span><ul><li><span class="matched_ds">Brain-lung-thyroid syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=18666&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Brain-lung-thyroid syndrome</span> in Orphanet.</div></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/29294041">TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moya CM,
Zaballos MA,
Garzón L,
Luna C,
Simón R,
Yaffe MB,
Gallego E,
Santisteban P,
Moreno JC</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2018 Mar 1;103(3):839-852.
doi: 10.1210/jc.2017-01241.
<span class="bold">PMID: </span><a href="/pubmed/29294041" target="_blank">29294041</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28732825">Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nattes E,
Lejeune S,
Carsin A,
Borie R,
Gibertini I,
Balinotti J,
Nathan N,
Marchand-Adam S,
Thumerelle C,
Fauroux B,
Bosdure E,
Houdouin V,
Delestrain C,
Louha M,
Couderc R,
De Becdelievre A,
Fanen P,
Funalot B,
Crestani B,
Deschildre A,
Dubus JC,
Epaud R</span><br />
<span class="medgenPMjournal">Respir Med</span>
2017 Aug;129:16-23.
Epub 2017 May 26
doi: 10.1016/j.rmed.2017.05.014.
<span class="bold">PMID: </span><a href="/pubmed/28732825" target="_blank">28732825</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24171694">Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peall KJ,
Lumsden D,
Kneen R,
Madhu R,
Peake D,
Gibbon F,
Lewis H,
Hedderly T,
Meyer E,
Robb SA,
Lynch B,
King MD,
Lin JP,
Morris HR,
Jungbluth H,
Kurian MA</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
2014 Jul;56(7):642-8.
Epub 2013 Oct 31
doi: 10.1111/dmcn.12323.
<span class="bold">PMID: </span><a href="/pubmed/24171694" target="_blank">24171694</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19336474">Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Carré A,
Szinnai G,
Castanet M,
Sura-Trueba S,
Tron E,
Broutin-L'Hermite I,
Barat P,
Goizet C,
Lacombe D,
Moutard ML,
Raybaud C,
Raynaud-Ravni C,
Romana S,
Ythier H,
Léger J,
Polak M</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
2009 Jun 15;18(12):2266-76.
Epub 2009 Mar 31
doi: 10.1093/hmg/ddp162.
<span class="bold">PMID: </span><a href="/pubmed/19336474" target="_blank">19336474</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain-lung-thyroid%20syndrome%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36420574">Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Magrinelli F,
Rocca C,
Simone R,
Zenezini Chiozzi R,
Jaunmuktane Z,
Mencacci NE,
Tinazzi M,
Jayawant S,
Nemeth AH,
Demidov G,
Houlden H,
Bhatia KP</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2023 Feb;38(2):347-353.
Epub 2022 Nov 23
doi: 10.1002/mds.29280.
<span class="bold">PMID: </span><a href="/pubmed/36420574" target="_blank">36420574</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35545334">A case of brain-lung-thyroid syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liang R,
Ou S,
Ding Y,
Liu C</span><br />
<span class="medgenPMjournal">Zhong Nan Da Xue Xue Bao Yi Xue Ban</span>
2022 Mar 28;47(3):396-400.
doi: 10.11817/j.issn.1672-7347.2022.200998.
<span class="bold">PMID: </span><a href="/pubmed/35545334" target="_blank">35545334</a><a href="/pmc/articles/PMC10930067" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33789861">Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ediger K,
Hicks A,
Siriwardena K,
Joynt C</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2021 Mar 31;14(3)
doi: 10.1136/bcr-2020-241032.
<span class="bold">PMID: </span><a href="/pubmed/33789861" target="_blank">33789861</a><a href="/pmc/articles/PMC8016098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28732825">Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nattes E,
Lejeune S,
Carsin A,
Borie R,
Gibertini I,
Balinotti J,
Nathan N,
Marchand-Adam S,
Thumerelle C,
Fauroux B,
Bosdure E,
Houdouin V,
Delestrain C,
Louha M,
Couderc R,
De Becdelievre A,
Fanen P,
Funalot B,
Crestani B,
Deschildre A,
Dubus JC,
Epaud R</span><br />
<span class="medgenPMjournal">Respir Med</span>
2017 Aug;129:16-23.
Epub 2017 May 26
doi: 10.1016/j.rmed.2017.05.014.
<span class="bold">PMID: </span><a href="/pubmed/28732825" target="_blank">28732825</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24129101">NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shetty VB,
Kiraly-Borri C,
Lamont P,
Bikker H,
Choong CS</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2014 Mar;27(3-4):373-8.
doi: 10.1515/jpem-2013-0109.
<span class="bold">PMID: </span><a href="/pubmed/24129101" target="_blank">24129101</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain-lung-thyroid%20syndrome%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 (12)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/28732825">Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nattes E,
Lejeune S,
Carsin A,
Borie R,
Gibertini I,
Balinotti J,
Nathan N,
Marchand-Adam S,
Thumerelle C,
Fauroux B,
Bosdure E,
Houdouin V,
Delestrain C,
Louha M,
Couderc R,
De Becdelievre A,
Fanen P,
Funalot B,
Crestani B,
Deschildre A,
Dubus JC,
Epaud R</span><br />
<span class="medgenPMjournal">Respir Med</span>
2017 Aug;129:16-23.
Epub 2017 May 26
doi: 10.1016/j.rmed.2017.05.014.
<span class="bold">PMID: </span><a href="/pubmed/28732825" target="_blank">28732825</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain-lung-thyroid%20syndrome%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38035569">Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Soreze Y,
Nathan N,
Jegard J,
Hervieux E,
Clermidi P,
Sileo C,
Louvrier C,
Legendre M,
Coulomb L'Herminé A</span><br />
<span class="medgenPMjournal">Neonatology</span>
2024;121(1):133-136.
Epub 2023 Nov 30
doi: 10.1159/000534076.
<span class="bold">PMID: </span><a href="/pubmed/38035569" target="_blank">38035569</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33789861">Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ediger K,
Hicks A,
Siriwardena K,
Joynt C</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2021 Mar 31;14(3)
doi: 10.1136/bcr-2020-241032.
<span class="bold">PMID: </span><a href="/pubmed/33789861" target="_blank">33789861</a><a href="/pmc/articles/PMC8016098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30927038">High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">LeMoine BD,
Browne LP,
Liptzin DR,
Deterding RR,
Galambos C,
Weinman JP</span><br />
<span class="medgenPMjournal">Pediatr Radiol</span>
2019 Jun;49(7):869-875.
Epub 2019 Mar 30
doi: 10.1007/s00247-019-04388-3.
<span class="bold">PMID: </span><a href="/pubmed/30927038" target="_blank">30927038</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29294041">TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moya CM,
Zaballos MA,
Garzón L,
Luna C,
Simón R,
Yaffe MB,
Gallego E,
Santisteban P,
Moreno JC</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2018 Mar 1;103(3):839-852.
doi: 10.1210/jc.2017-01241.
<span class="bold">PMID: </span><a href="/pubmed/29294041" target="_blank">29294041</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28732825">Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nattes E,
Lejeune S,
Carsin A,
Borie R,
Gibertini I,
Balinotti J,
Nathan N,
Marchand-Adam S,
Thumerelle C,
Fauroux B,
Bosdure E,
Houdouin V,
Delestrain C,
Louha M,
Couderc R,
De Becdelievre A,
Fanen P,
Funalot B,
Crestani B,
Deschildre A,
Dubus JC,
Epaud R</span><br />
<span class="medgenPMjournal">Respir Med</span>
2017 Aug;129:16-23.
Epub 2017 May 26
doi: 10.1016/j.rmed.2017.05.014.
<span class="bold">PMID: </span><a href="/pubmed/28732825" target="_blank">28732825</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain-lung-thyroid%20syndrome%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38916623">Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Skwara J,
Nowicki M,
Sharif L,
Milanowski Ł,
Dulski J,
Elert-Dobkowska E,
Skrzypek K,
Hoffman-Zacharska D,
Koziorowski D,
Sławek J</span><br />
<span class="medgenPMjournal">J Neural Transm (Vienna)</span>
2024 Sep;131(9):1013-1024.
Epub 2024 Jun 25
doi: 10.1007/s00702-024-02800-3.
<span class="bold">PMID: </span><a href="/pubmed/38916623" target="_blank">38916623</a><a href="/pmc/articles/PMC11365827" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38035569">Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Soreze Y,
Nathan N,
Jegard J,
Hervieux E,
Clermidi P,
Sileo C,
Louvrier C,
Legendre M,
Coulomb L'Herminé A</span><br />
<span class="medgenPMjournal">Neonatology</span>
2024;121(1):133-136.
Epub 2023 Nov 30
doi: 10.1159/000534076.
<span class="bold">PMID: </span><a href="/pubmed/38035569" target="_blank">38035569</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29621620">Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Invernizzi F,
Zorzi G,
Legati A,
Coppola G,
D'Adamo P,
Nardocci N,
Garavaglia B,
Ghezzi D</span><br />
<span class="medgenPMjournal">Eur J Med Genet</span>
2018 Oct;61(10):581-584.
Epub 2018 Apr 3
doi: 10.1016/j.ejmg.2018.03.011.
<span class="bold">PMID: </span><a href="/pubmed/29621620" target="_blank">29621620</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24129101">NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shetty VB,
Kiraly-Borri C,
Lamont P,
Bikker H,
Choong CS</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2014 Mar;27(3-4):373-8.
doi: 10.1515/jpem-2013-0109.
<span class="bold">PMID: </span><a href="/pubmed/24129101" target="_blank">24129101</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22166853">Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Uematsu M,
Haginoya K,
Kikuchi A,
Nakayama T,
Kakisaka Y,
Numata Y,
Kobayashi T,
Hino-Fukuyo N,
Fujiwara I,
Kure S</span><br />
<span class="medgenPMjournal">J Neurol Sci</span>
2012 Apr 15;315(1-2):77-81.
Epub 2011 Dec 12
doi: 10.1016/j.jns.2011.11.025.
<span class="bold">PMID: </span><a href="/pubmed/22166853" target="_blank">22166853</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain-lung-thyroid%20syndrome%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 (6)</a></div></div>
</div>
</div></div></div></div></div></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
<div class="rightCol mgCol">
<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
</div>
<div class="portlet mgSection" id="ID_106">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1970269%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (20)</a></li>
<li><a href="/gtr/tests?term=C1970269%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (30)</a></li>
<li><a href="/gtr/tests?term=C1970269%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1970269%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
</ul></div>
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<div class="portlet mgSection" id="ID_119">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=610978" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=209905" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Brain-lung-thyroid%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
</div>
<div class="portlet mgSection" id="ID_115">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=600635" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7080[geneid]" target="_blank">View NKX2-1 variations in ClinVar</a></li><li><a href="/nuccore/262331562" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=610978" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<p class="address_footer text-white">National Library of Medicine<br />
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
Bethesda, MD 20894</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
</div>
</div>
<div class="row">
<div class="col-lg-12 centered-lg">
<nav class="bottom-links">
<ul class="mt-3">
<li>
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
</li>
<li>
<a class="text-white" href="https://www.nih.gov/">NIH</a>
</li>
<li>
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
</li>
<li>
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
</li>
</ul>
</nav>
</div>
</div>
</div>
</section>
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