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<meta name="keywords" content="C1842138, finding, hearing impairment, progressive, hearing loss, progressive, progressive hearing impairment, progressive hearing loss, 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="A progressive form of hearing impairment." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=331224
|
||
ConceptID=C1842138
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive hearing impairment</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331224</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:">C1842138</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hearing impairment, progressive; Hearing loss, progressive; Progressive hearing loss</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001730">HP:0001730</a></td></tr>
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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>
|
||
<div class="portlet_content ln">A progressive form of hearing impairment. [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>
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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=C1842138[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=331224">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=331224" ref="ncbi_uid=331224">V</a></span></span><span class="TLline">Progressive hearing impairment</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/75618" ref="tree=MeSH" title="MedGen record for Abnormality of the ear">Abnormality of the ear</a></span><ul><li><span class="TLline"><a href="/medgen/1631982" ref="tree=MeSH" title="MedGen record for Abnormal ear physiology">Abnormal ear physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871365" ref="tree=MeSH" title="MedGen record for Hearing abnormality">Hearing abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/235586" ref="tree=MeSH" title="MedGen record for Hearing impairment">Hearing impairment</a></span><ul><li><span class="matched_ds">Progressive hearing impairment</span><ul><li><span class="TLline"><a href="/medgen/335894" ref="tree=MeSH" title="MedGen record for Progressive sensorineural hearing impairment">Progressive sensorineural hearing impairment</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_373087"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373087</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.">C1836439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene (174763) is associated with more complicated phenotypes than PEO caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373087">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331222"><div><strong>Autosomal dominant nonsyndromic hearing loss 49</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331222</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.">C1842136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331222">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335521"><div><strong>Autosomal recessive nonsyndromic hearing loss 30</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335521</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.">C1846784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive deafness-30 (DFNB30) is characterized by progressive hearing loss with onset in the second decade of life. The high frequencies are initially affected; by age 50, hearing loss is severe in high and middle frequencies and moderate in low frequencies. Vision and balance are normal (Walsh et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335521">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342202"><div><strong>Deafness with anhidrotic ectodermal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342202</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.">C1852279</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/342202">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343766"><div><strong>Deafness, sensorineural, with peripheral neuropathy and arterial disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343766</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.">C1852280</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/343766">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338897"><div><strong>Deafness, mid-tone neural</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338897</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.">C1852283</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/338897">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340051"><div><strong>Autosomal dominant nonsyndromic hearing loss 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340051</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.">C1853760</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340051">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_409738"><div><strong>Otosclerosis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409738</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.">C1969044</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/409738">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419730"><div><strong>Vestibulocochlear dysfunction, progressive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419730</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.">C2931176</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/419730">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462054"><div><strong>Autosomal recessive nonsyndromic hearing loss 91</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462054</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.">C3150704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462054">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481988"><div><strong>Wolfram-like syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481988</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.">C3280358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481988">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766969"><div><strong>Peroxisome biogenesis disorder 14B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766969</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.">C3554055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported. Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (214100) spectrum' (ZSS) disorder. See PBD1B (601539) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (614879) for another atypical peroxisome biogenesis disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766969">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854780"><div><strong>Autosomal dominant nonsyndromic hearing loss 50</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854780</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.">C3888123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant deafness-50 is a form of nonsyndromic hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by Mencia et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854780">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_856147"><div><strong>Autosomal dominant nonsyndromic hearing loss 65</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>856147</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.">C3892048</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), with profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures; familial infantile myoclonic epilepsy (FIME), with early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability; progressive myoclonus epilepsy (PME), with action myoclonus, tonic-clonic seizures, ataxia, and progressive neurologic decline; rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC); developmental and epileptic encephalopathy (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS); autosomal recessive nonsyndromic hearing loss (DFNB); and autosomal dominant nonsyndromic hearing loss (DFNA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/856147">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863698"><div><strong>Polyendocrine-polyneuropathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863698</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.">C4015261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic disease with characteristics of childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863698">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1787876"><div><strong>Short stature, oligodontia, dysmorphic facies, and motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1787876</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.">C5543206</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SOFM is characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay. Endosteal hyperostosis has also been observed, and patients may exhibit some features of progeria (Terhal et al., 2020; Beauregard-Lacroix et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1787876">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824047"><div><strong>Muscular dystrophy, congenital, with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824047</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.">C5774274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy with or without seizures (MYOS) is an autosomal recessive disorder characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Laboratory studies show increased serum creatine kinase and muscle biopsy shows nonspecific dystrophic features. Most patients develop seizures or have abnormal epileptiform findings on EEG studies; other variable findings may include feeding difficulties, nystagmus, myopathic facies, areflexia, and brain atrophy on MRI (summary by Larson et al., 2018 and Henige et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824047">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340051" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant nonsyndromic hearing loss 18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant nonsyndromic hearing loss 49</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant nonsyndromic hearing loss 50</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_856147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant nonsyndromic hearing loss 65</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335521" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive nonsyndromic hearing loss 30</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_462054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive nonsyndromic hearing loss 91</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deafness with anhidrotic ectodermal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deafness, mid-tone neural</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deafness, sensorineural, with peripheral neuropathy and arterial disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, congenital, with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Otosclerosis 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 14B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyendocrine-polyneuropathy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1787876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, oligodontia, dysmorphic facies, and motor delay</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vestibulocochlear dysfunction, progressive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram-like syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31593348">Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu XZ,
|
||
Yan D,
|
||
Mittal R,
|
||
Ballard ME,
|
||
Feng Y</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2020 Jul;130(7):1657-1663.
|
||
Epub 2019 Oct 8
|
||
doi: 10.1002/lary.28318.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31593348" target="_blank">31593348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29634755">Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hao Z,
|
||
Fu D,
|
||
Ming Y,
|
||
Yang J,
|
||
Huang Q,
|
||
Lin W,
|
||
Zhang H,
|
||
Zhang B,
|
||
Zhou A,
|
||
Hu X,
|
||
Yao C,
|
||
Dong Y,
|
||
Ring HZ,
|
||
Ring BZ</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2018;13(4):e0195740.
|
||
Epub 2018 Apr 10
|
||
doi: 10.1371/journal.pone.0195740.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29634755" target="_blank">29634755</a><a href="/pmc/articles/PMC5892933" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27308839">Newborn genetic screening for hearing impairment: a population-based longitudinal study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu CC,
|
||
Tsai CH,
|
||
Hung CC,
|
||
Lin YH,
|
||
Lin YH,
|
||
Huang FL,
|
||
Tsao PN,
|
||
Su YN,
|
||
Lee YL,
|
||
Hsieh WS,
|
||
Hsu CJ</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2017 Jan;19(1):6-12.
|
||
Epub 2016 Jun 16
|
||
doi: 10.1038/gim.2016.66.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27308839" target="_blank">27308839</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%20hearing%20impairment%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 (7)</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/36695047">Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koehl B,
|
||
Vrignaud C,
|
||
Mikdar M,
|
||
Nair TS,
|
||
Yang L,
|
||
Landry S,
|
||
Laiguillon G,
|
||
Giroux-Lathuile C,
|
||
Anselme-Martin S,
|
||
El Kenz H,
|
||
Hermine O,
|
||
Mohandas N,
|
||
Cartron JP,
|
||
Colin Y,
|
||
Detante O,
|
||
Marlu R,
|
||
Le Van Kim C,
|
||
Carey TE,
|
||
Azouzi S,
|
||
Peyrard T</span><br />
|
||
<span class="medgenPMjournal">EMBO Mol Med</span>
|
||
2023 Mar 8;15(3):e16320.
|
||
Epub 2023 Jan 25
|
||
doi: 10.15252/emmm.202216320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36695047" target="_blank">36695047</a><a href="/pmc/articles/PMC9994479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36421731">Linking Cerebrovascular Dysfunction to Age-Related Hearing Loss and Alzheimer's Disease-Are Systemic Approaches for Diagnosis and Therapy Required?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Förster CY,
|
||
Shityakov S,
|
||
Scheper V,
|
||
Lenarz T</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2022 Nov 19;12(11)
|
||
doi: 10.3390/biom12111717.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36421731" target="_blank">36421731</a><a href="/pmc/articles/PMC9688145" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35899566">Ototoxicity and long-term hearing outcome in pediatric patients receiving cisplatin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sriyapai T,
|
||
Thongyai K,
|
||
Phuakpet K,
|
||
Vathana N,
|
||
Buaboonnam J,
|
||
Sanpakit K</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2022;64(3):531-541.
|
||
doi: 10.24953/turkjped.2021.5012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35899566" target="_blank">35899566</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31593348">Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu XZ,
|
||
Yan D,
|
||
Mittal R,
|
||
Ballard ME,
|
||
Feng Y</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2020 Jul;130(7):1657-1663.
|
||
Epub 2019 Oct 8
|
||
doi: 10.1002/lary.28318.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31593348" target="_blank">31593348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30291149">Age-Related Hearing Loss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowl MR,
|
||
Dawson SJ</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Perspect Med</span>
|
||
2019 Aug 1;9(8)
|
||
doi: 10.1101/cshperspect.a033217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30291149" target="_blank">30291149</a><a href="/pmc/articles/PMC6671929" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20hearing%20impairment%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 (25)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36421731">Linking Cerebrovascular Dysfunction to Age-Related Hearing Loss and Alzheimer's Disease-Are Systemic Approaches for Diagnosis and Therapy Required?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Förster CY,
|
||
Shityakov S,
|
||
Scheper V,
|
||
Lenarz T</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2022 Nov 19;12(11)
|
||
doi: 10.3390/biom12111717.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36421731" target="_blank">36421731</a><a href="/pmc/articles/PMC9688145" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24781754">Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seco CZ,
|
||
Oonk AM,
|
||
Domínguez-Ruiz M,
|
||
Draaisma JM,
|
||
Gandía M,
|
||
Oostrik J,
|
||
Neveling K,
|
||
Kunst HP,
|
||
Hoefsloot LH,
|
||
del Castillo I,
|
||
Pennings RJ,
|
||
Kremer H,
|
||
Admiraal RJ,
|
||
Schraders M</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Feb;23(2):189-94.
|
||
Epub 2014 Apr 30
|
||
doi: 10.1038/ejhg.2014.83.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24781754" target="_blank">24781754</a><a href="/pmc/articles/PMC4297911" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24100002">Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58,397 neonates in Tianjin, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Wang P,
|
||
Han B,
|
||
Ding Y,
|
||
Pan L,
|
||
Zou J,
|
||
Liu H,
|
||
Pang X,
|
||
Liu E,
|
||
Wang H,
|
||
Liu H,
|
||
Zhang X,
|
||
Cheng X,
|
||
Feng D,
|
||
Li Q,
|
||
Wang D,
|
||
Zong L,
|
||
Yi Y,
|
||
Tian N,
|
||
Mu F,
|
||
Tian G,
|
||
Chen Y,
|
||
Liu G,
|
||
Zhang F,
|
||
Yi X,
|
||
Yang L,
|
||
Wang Q</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2013 Dec;77(12):1929-35.
|
||
Epub 2013 Sep 8
|
||
doi: 10.1016/j.ijporl.2013.08.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24100002" target="_blank">24100002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21618827">Studies on the very large G protein-coupled receptor: from initial discovery to determining its role in sensorineural deafness in higher animals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McMillan DR,
|
||
White PC</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2010;706:76-86.
|
||
doi: 10.1007/978-1-4419-7913-1_6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21618827" target="_blank">21618827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12532560">The Alström syndrome: is it a rare or unknown disease?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maffei P,
|
||
Munno V,
|
||
Marshall JD,
|
||
Scandellari C,
|
||
Sicolo N</span><br />
|
||
<span class="medgenPMjournal">Ann Ital Med Int</span>
|
||
2002 Oct-Dec;17(4):221-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12532560" target="_blank">12532560</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20hearing%20impairment%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 (25)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37335659">Relapsing autoimmune inner ear disease with significant response to methotrexate and azathioprine combination therapy: A case report and mini literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang KH,
|
||
Lin HC,
|
||
Lin CD,
|
||
Wu PC</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Jun 9;102(23):e33889.
|
||
doi: 10.1097/MD.0000000000033889.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37335659" target="_blank">37335659</a><a href="/pmc/articles/PMC10256420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35899566">Ototoxicity and long-term hearing outcome in pediatric patients receiving cisplatin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sriyapai T,
|
||
Thongyai K,
|
||
Phuakpet K,
|
||
Vathana N,
|
||
Buaboonnam J,
|
||
Sanpakit K</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2022;64(3):531-541.
|
||
doi: 10.24953/turkjped.2021.5012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35899566" target="_blank">35899566</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32207589">The effect of middle ear effusion on the inner ear condition in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pazdro-Zastawny K,
|
||
Zatoński T</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2020 Mar;29(3):325-330.
|
||
doi: 10.17219/acem/112601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32207589" target="_blank">32207589</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21810457">Audiometric characteristics of a Dutch family with Muckle-Wells syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weegerink NJ,
|
||
Schraders M,
|
||
Leijendeckers J,
|
||
Slieker K,
|
||
Huygen PL,
|
||
Hoefsloot L,
|
||
Oostrik J,
|
||
Pennings RJ,
|
||
Simon A,
|
||
Snik A,
|
||
Kremer H,
|
||
Kunst HP</span><br />
|
||
<span class="medgenPMjournal">Hear Res</span>
|
||
2011 Dec;282(1-2):243-51.
|
||
Epub 2011 Jul 23
|
||
doi: 10.1016/j.heares.2011.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21810457" target="_blank">21810457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9572712">Progressive sensorineural hearing impairment in systemic vasculitides.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berrettini S,
|
||
Ferri C,
|
||
Ravecca F,
|
||
LaCivita L,
|
||
Bruschini L,
|
||
Riente L,
|
||
Mosca M,
|
||
Sellari-Franceschini S</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
1998 Apr;27(5):301-18.
|
||
doi: 10.1016/s0049-0172(98)80051-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9572712" target="_blank">9572712</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20hearing%20impairment%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31593348">Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu XZ,
|
||
Yan D,
|
||
Mittal R,
|
||
Ballard ME,
|
||
Feng Y</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2020 Jul;130(7):1657-1663.
|
||
Epub 2019 Oct 8
|
||
doi: 10.1002/lary.28318.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31593348" target="_blank">31593348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30535804">De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smits JJ,
|
||
Oostrik J,
|
||
Beynon AJ,
|
||
Kant SG,
|
||
de Koning Gans PAM,
|
||
Rotteveel LJC,
|
||
Klein Wassink-Ruiter JS,
|
||
Free RH,
|
||
Maas SM,
|
||
van de Kamp J,
|
||
Merkus P;
|
||
DOOFNL Consortium,
|
||
Koole W,
|
||
Feenstra I,
|
||
Admiraal RJC,
|
||
Lanting CP,
|
||
Schraders M,
|
||
Yntema HG,
|
||
Pennings RJE,
|
||
Kremer H</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2019 Jan;138(1):61-72.
|
||
Epub 2018 Dec 8
|
||
doi: 10.1007/s00439-018-1965-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30535804" target="_blank">30535804</a><a href="/pmc/articles/PMC6514080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27318125">A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartel BP,
|
||
Löfgren M,
|
||
Huygen PL,
|
||
Guchelaar I,
|
||
Lo-A-Njoe Kort N,
|
||
Sadeghi AM,
|
||
van Wijk E,
|
||
Tranebjærg L,
|
||
Kremer H,
|
||
Kimberling WJ,
|
||
Cremers CW,
|
||
Möller C,
|
||
Pennings RJ</span><br />
|
||
<span class="medgenPMjournal">Hear Res</span>
|
||
2016 Sep;339:60-8.
|
||
Epub 2016 Jun 16
|
||
doi: 10.1016/j.heares.2016.06.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27318125" target="_blank">27318125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24100002">Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58,397 neonates in Tianjin, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Wang P,
|
||
Han B,
|
||
Ding Y,
|
||
Pan L,
|
||
Zou J,
|
||
Liu H,
|
||
Pang X,
|
||
Liu E,
|
||
Wang H,
|
||
Liu H,
|
||
Zhang X,
|
||
Cheng X,
|
||
Feng D,
|
||
Li Q,
|
||
Wang D,
|
||
Zong L,
|
||
Yi Y,
|
||
Tian N,
|
||
Mu F,
|
||
Tian G,
|
||
Chen Y,
|
||
Liu G,
|
||
Zhang F,
|
||
Yi X,
|
||
Yang L,
|
||
Wang Q</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2013 Dec;77(12):1929-35.
|
||
Epub 2013 Sep 8
|
||
doi: 10.1016/j.ijporl.2013.08.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24100002" target="_blank">24100002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21810457">Audiometric characteristics of a Dutch family with Muckle-Wells syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weegerink NJ,
|
||
Schraders M,
|
||
Leijendeckers J,
|
||
Slieker K,
|
||
Huygen PL,
|
||
Hoefsloot L,
|
||
Oostrik J,
|
||
Pennings RJ,
|
||
Simon A,
|
||
Snik A,
|
||
Kremer H,
|
||
Kunst HP</span><br />
|
||
<span class="medgenPMjournal">Hear Res</span>
|
||
2011 Dec;282(1-2):243-51.
|
||
Epub 2011 Jul 23
|
||
doi: 10.1016/j.heares.2011.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21810457" target="_blank">21810457</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20hearing%20impairment%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 (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30535804">De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smits JJ,
|
||
Oostrik J,
|
||
Beynon AJ,
|
||
Kant SG,
|
||
de Koning Gans PAM,
|
||
Rotteveel LJC,
|
||
Klein Wassink-Ruiter JS,
|
||
Free RH,
|
||
Maas SM,
|
||
van de Kamp J,
|
||
Merkus P;
|
||
DOOFNL Consortium,
|
||
Koole W,
|
||
Feenstra I,
|
||
Admiraal RJC,
|
||
Lanting CP,
|
||
Schraders M,
|
||
Yntema HG,
|
||
Pennings RJE,
|
||
Kremer H</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2019 Jan;138(1):61-72.
|
||
Epub 2018 Dec 8
|
||
doi: 10.1007/s00439-018-1965-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30535804" target="_blank">30535804</a><a href="/pmc/articles/PMC6514080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24781754">Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seco CZ,
|
||
Oonk AM,
|
||
Domínguez-Ruiz M,
|
||
Draaisma JM,
|
||
Gandía M,
|
||
Oostrik J,
|
||
Neveling K,
|
||
Kunst HP,
|
||
Hoefsloot LH,
|
||
del Castillo I,
|
||
Pennings RJ,
|
||
Kremer H,
|
||
Admiraal RJ,
|
||
Schraders M</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Feb;23(2):189-94.
|
||
Epub 2014 Apr 30
|
||
doi: 10.1038/ejhg.2014.83.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24781754" target="_blank">24781754</a><a href="/pmc/articles/PMC4297911" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21810457">Audiometric characteristics of a Dutch family with Muckle-Wells syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weegerink NJ,
|
||
Schraders M,
|
||
Leijendeckers J,
|
||
Slieker K,
|
||
Huygen PL,
|
||
Hoefsloot L,
|
||
Oostrik J,
|
||
Pennings RJ,
|
||
Simon A,
|
||
Snik A,
|
||
Kremer H,
|
||
Kunst HP</span><br />
|
||
<span class="medgenPMjournal">Hear Res</span>
|
||
2011 Dec;282(1-2):243-51.
|
||
Epub 2011 Jul 23
|
||
doi: 10.1016/j.heares.2011.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21810457" target="_blank">21810457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20236115">Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dad S,
|
||
Østergaard E,
|
||
Thykjaer T,
|
||
Albrectsen A,
|
||
Ravn K,
|
||
Rosenberg T,
|
||
Møller LB</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2010 Oct;78(4):388-97.
|
||
doi: 10.1111/j.1399-0004.2010.01393.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20236115" target="_blank">20236115</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12532560">The Alström syndrome: is it a rare or unknown disease?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maffei P,
|
||
Munno V,
|
||
Marshall JD,
|
||
Scandellari C,
|
||
Sicolo N</span><br />
|
||
<span class="medgenPMjournal">Ann Ital Med Int</span>
|
||
2002 Oct-Dec;17(4):221-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12532560" target="_blank">12532560</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20hearing%20impairment%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 (17)</a></div></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/31593348">Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu XZ,
|
||
Yan D,
|
||
Mittal R,
|
||
Ballard ME,
|
||
Feng Y</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2020 Jul;130(7):1657-1663.
|
||
Epub 2019 Oct 8
|
||
doi: 10.1002/lary.28318.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31593348" target="_blank">31593348</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20hearing%20impairment%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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