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<meta name="keywords" content="C1720771, congenital abnormality, hydrocele, hydrocele of testis, hydrocele testis, hydrocele, scrotal, hydrocele, testicular, hydrocele, vaginal, hydroceles, scrotal, hydroceles, testicular, hydroceles, vaginal, scrotal hydrocele, scrotal hydroceles, testicular hydrocele, testicular hydroceles, vaginal hydrocele, vaginal hydroceles, 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="Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=318568
|
||
ConceptID=C1720771
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hydrocele testis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318568</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:">C1720771</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hydrocele</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hydrocele (386152007); Hydrocele of testis (26614003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000034">HP:0000034</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0004920" target="_blank">MONDO:0004920</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1720771[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=318568">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=318568" ref="ncbi_uid=318568">V</a></span></span><span class="TLline">Hydrocele testis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/866746" ref="tree=MeSH" title="MedGen record for Abnormal reproductive system morphology">Abnormal reproductive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869392" ref="tree=MeSH" title="MedGen record for Abnormality of the male genitalia">Abnormality of the male genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/871399" ref="tree=MeSH" title="MedGen record for Abnormal male external genitalia morphology">Abnormal male external genitalia morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1684851" ref="tree=MeSH" title="MedGen record for Abnormal testis morphology">Abnormal testis morphology</a></span><ul><li><span class="matched_ds">Hydrocele testis</span><ul><li><span class="TLline"><a href="/medgen/510693" ref="tree=MeSH" title="MedGen record for Congenital hydrocele">Congenital hydrocele</a></span></li><li><span class="TLline"><a href="/medgen/574457" ref="tree=MeSH" title="MedGen record for Encysted hydrocele of the cord">Encysted hydrocele of the cord</a></span></li><li><span class="TLline"><a href="/medgen/574456" ref="tree=MeSH" title="MedGen record for Infantile hydrocele">Infantile hydrocele</a></span></li><li><span class="TLline"><a href="/medgen/506514" ref="tree=MeSH" title="MedGen record for Vaginal hydrocele">Vaginal hydrocele</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_112">
|
||
<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_4297"><div><strong>DiGeorge syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4297</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.">C0012236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4297">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120511"><div><strong>Weaver syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120511</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.">C0265210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EZH2-related overgrowth is a variable overgrowth syndrome characterized by tall stature, macrocephaly, variable intellect (ranging from normal intellect to severe intellectual disability), characteristic facial appearance, and a range of associated clinical features including advanced bone age, poor coordination, soft, doughy skin, camptodactyly of the fingers and/or toes, umbilical hernia, abnormal tone, and hoarse, low cry in infancy. Brain MRI has identified abnormalities in a few individuals with EZH2-related overgrowth. Neuroblastoma occurs at a slightly increased frequency in individuals with a heterozygous EZH2 pathogenic variant, but data are insufficient to determine absolute risk. There is currently no evidence that additional malignancies (including hematologic malignancies) occur with increased frequency, though a few have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120511">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_309963"><div><strong>Hereditary lymphedema type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>309963</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.">C1704423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Lymphatic Malformation Primary lymphedema is genetically heterogeneous: see also LMPHM2 (611944), which maps to chromosome 6q16.2-q22.1; LMPHM3 (613480), caused by mutation in the GJC2 gene (608803) on chromosome 1q42; LMPHM4 (615907), caused by mutation in the VEGFC gene (601528) on chromosome 4q34; LMPHM5 (153200); LMPHM6 (616843), caused by mutation in the PIEZO1 gene (611184) on chromosome 16q24; LMPHM7 (617300), caused by mutation in the EPHB4 gene (600011) on chromosome 7q22; LMPHM8 (618773), caused by mutation in the CALCRL gene (114190) on chromosome 2q31; LMPHM9 (619319), caused by mutation in the CELSR1 gene (604523) on chromosome 22q13; LMPHM10 (610369), caused by mutation in the ANGPT2 gene (601922) on chromosome 8p23; LMPHM11 (619401), caused by mutation in the TIE1 gene (600222) on chromosome 1p34; LMPHM12 (620014), caused by mutation in the MDFIC gene (614511) on chromosome 7q31; LMPHM13 (620244), caused by mutation in the THSD1 gene (616821) on chromosome 13q14; and LMPHM14 (620602), caused by mutation in the ERG gene (165080) on chromosome 21q22. Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (153400), which is caused by mutation in the FOXC2 gene (602402), and various forms of nonimmune hydrops fetalis (NIHF; see 236750).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/309963">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331813"><div><strong>Cerebelloparenchymal Disorder VI</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331813</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.">C1834711</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/331813">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375070"><div><strong>Hypotrichosis-lymphedema-telangiectasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375070</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.">C1843004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by Irrthum et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375070">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341214"><div><strong>CHIME syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341214</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.">C1848392</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341214">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381416"><div><strong>Macrocephaly-autism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381416</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.">C1854416</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Macrocephaly/autism syndrome is an autosomal dominant disorder characterized by increased head circumference, abnormal facial features, and delayed psychomotor development resulting in autistic behavior or mental retardation (Herman et al., 2007). Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function (Tsujita et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381416">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383042"><div><strong>Lymphedema-atrial septal defects-facial changes syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383042</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.">C2677167</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383042">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462207"><div><strong>Chromosome 4Q32.1-q32.2 triplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462207</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.">C3150857</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/462207">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462419"><div><strong>Chromosome 17p13.1 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462419</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.">C3151069</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/462419">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477078"><div><strong>Ogden syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477078</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.">C3275447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481405"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481405</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.">C3279775</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (610293). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome MCAHS2 (300868) is caused by mutation in the PIGA gene (311770) on chromosome Xp22, MCAHS3 (615398) is caused by mutation in the PIGT gene (610272) on chromosome 20q13, and MCAHS4 (618548) is caused by mutation in the PIGQ gene (605754) on chromosome 16p13. Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (239300), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481405">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_767432"><div><strong>Cowden syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767432</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.">C3554518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767432">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767433"><div><strong>Cowden syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767433</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.">C3554519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\n\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767433">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_908120"><div><strong>Lymphatic malformation 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908120</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.">C4225184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/908120">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_901732"><div><strong>Radioulnar synostosis with amegakaryocytic thrombocytopenia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901732</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.">C4225221</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015). For a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 (605432).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/901732">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1373459"><div><strong>Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1373459</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.">C4317151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1373459">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1651756"><div><strong>Lymphatic malformation 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1651756</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.">C4747769</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1651756">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648368"><div><strong>Hennekam lymphangiectasia-lymphedema syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648368</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.">C4748408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017). For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648368">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1716458"><div><strong>Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716458</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.">C5394137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome (PHRINL) is an autosomal recessive multisystem disorder with onset in utero and death in the neonatal period. Rare patients may survive a few months. Affected infants show respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit. Additional features include corneal clouding, seizures, dysmorphic facies, contractures, and progressive pontocerebellar hypoplasia with simplified gyral pattern and white matter abnormalities. Some patients may have cardiac anomalies or cardiac hypertrophy. Laboratory studies show evidence consistent with mitochondrial defects and/or abnormal cholesterol or lipid metabolism. Depending on the type of mutation or deletion, some patients may have a less severe disorder (see GENOTYPE/PHENOTYPE CORRELATIONS) (summary by Desai et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1716458">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1770258"><div><strong>Mitochondrial DNA depletion syndrome 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770258</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.">C5436514</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/1770258">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1780452"><div><strong>Lymphatic malformation 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780452</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.">C5543531</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphatic malformation-10 (LMPHM10) is an autosomal dominant disorder characterized by onset of lymphedema within the first year of life. Lymphedema primarily involves the lower extremities but may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis (Leppanen et al., 2020). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780452">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794181"><div><strong>Congenital disorder of glycosylation, type 2v</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794181</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.">C5561971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorder of glycosylation type 2v (CDG2V) is an autosomal recessive disorder characterized by neurodevelopmental delay and variable facial dysmorphisms (Polla et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794181">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794194"><div><strong>Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794194</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.">C5561984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794194">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1830104"><div><strong>Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830104</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.">C5680310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. Additional features may include developmental delay, impaired intellectual development, and growth failure/retardation (summary by Cuvertino et al., 2020 and Baldridge et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830104">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823968"><div><strong>Liver disease, severe congenital</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823968</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.">C5774195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823968">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823976"><div><strong>Lymphatic malformation 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823976</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.">C5774203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphatic malformation-12 (LMPHM12) is characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Other affected individuals experience postnatal subcutaneous lymphedema and chylothorax, with pleural and pericardial effusions and ascites (Byrne et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823976">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823996"><div><strong>Developmental delay with short stature, dysmorphic facial features, and sparse hair 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823996</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.">C5774223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay with short stature, dysmorphic facial features, and sparse hair-2 (DEDSSH2) is an autosomal recessive syndromic disorder characterized by the constellation of these features apparent from infancy. Affected individuals may have other abnormalities, including congenital cardiac defects and distal skeletal anomalies (Hawer et al., 2020). For a discussion of genetic heterogeneity of DEDSSH2, see DEDSSH1 (616901).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823996">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840915"><div><strong>Lymphatic malformation 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840915</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.">C5830279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphatic malformation-13 (LMPHM13) is characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Capillary or cavernous hemangiomas are present in most patients, as are cardiac defects, often mild (Abdelrahman et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840915">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1845576"><div><strong>Epilepsy, early-onset, with or without developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845576</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.">C5882670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Early-onset epilepsy-2 with or without developmental delay (EPEO2) is an autosomal dominant neurologic disorder characterized by the onset of generalized tonic-clonic seizures in the first days, months, or years of life. The severity is highly variable: some patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging (summary by Yu et al., 2019). For a discussion of genetic heterogeneity of EPEO, see 617290.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845576">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847896"><div><strong>Arthrogryposis, distal, type 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847896</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.">C5882704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal arthrogryposis type 12 (DA12) is characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Additional features include contractures of the knees and Achilles tendons, spinal stiffness, scoliosis, and orthodontic abnormalities. Radiographic investigations excluded bony abnormalities of the affected joints (Boschann et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847896">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_989457"><div><strong>Teebi hypertelorism syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989457</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN306405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Teebi hypertelorism syndrome-1 (TBHS1) is an autosomal dominant disorder characterized by hypertelorism with upslanting palpebral fissures, prominent forehead, broad and depressed nasal bridge with short nose, thick eyebrows, and widow's peak. Additional features include small broad hands with mild interdigital webbing and shawl scrotum. Umbilical malformations, cardiac defects, natal teeth, cleft lip/palate, congenital diaphragmatic hernia, and malformations of the central nervous system (ventriculomegaly, abnormal corpus callosum) have also been reported. Development is typically normal, although some patients with developmental delays have been reported (summary by Bhoj et al., 2015). Genetic Heterogeneity of Teebi Hypertelorism Syndrome Teebi hypertelorism syndrome-2 (TBHS2; 619736) is caused by mutation in the CDH11 gene (600023) on chromosome 16q21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989457">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, distal, type 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebelloparenchymal Disorder VI</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CHIME syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 17p13.1 deletion syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (33)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462207" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 4Q32.1-q32.2 triplication syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type 2v</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay with short stature, dysmorphic facial features, and sparse hair 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DiGeorge syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845576" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy, early-onset, with or without developmental delay</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hennekam lymphangiectasia-lymphedema syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_309963" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary lymphedema type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis-lymphedema-telangiectasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1373459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver disease, severe congenital</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphatic malformation 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphatic malformation 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphatic malformation 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1651756" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphatic malformation 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908120" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphatic malformation 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphedema-atrial septal defects-facial changes syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly-autism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 19</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481405" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ogden syndrome</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_1716458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radioulnar synostosis with amegakaryocytic thrombocytopenia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_989457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Teebi hypertelorism syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weaver syndrome</a></div></span></div></div>
|
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</div>
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||
|
||
<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/29032240">Natural History and Conservative Treatment Outcomes for Hydroceles: A Retrospective Review of One Center's Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acer-Demir T,
|
||
Ekenci BY,
|
||
Özer D,
|
||
Turanoğlu MA,
|
||
Haberal KC,
|
||
Bilgin EB,
|
||
Hiçsönmez A</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2018 Feb;112:155-160.
|
||
Epub 2017 Oct 13
|
||
doi: 10.1016/j.urology.2017.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29032240" target="_blank">29032240</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1552583">Treatment of hydrocele testis with aspiration and injection of polidocanol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lund L,
|
||
Bartolin J</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1992 Apr;147(4):1065-6.
|
||
doi: 10.1016/s0022-5347(17)37470-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1552583" target="_blank">1552583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2005703">The absorption of chlortetracycline following transscrotal instillation for the treatment of primary hydrocele testis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bødker A,
|
||
Rasmussen TB,
|
||
Christensen MB</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1991 Apr;145(4):792-4.
|
||
doi: 10.1016/s0022-5347(17)38453-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2005703" target="_blank">2005703</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hydrocele%20testis%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 (4)</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/29032240">Natural History and Conservative Treatment Outcomes for Hydroceles: A Retrospective Review of One Center's Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acer-Demir T,
|
||
Ekenci BY,
|
||
Özer D,
|
||
Turanoğlu MA,
|
||
Haberal KC,
|
||
Bilgin EB,
|
||
Hiçsönmez A</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2018 Feb;112:155-160.
|
||
Epub 2017 Oct 13
|
||
doi: 10.1016/j.urology.2017.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29032240" target="_blank">29032240</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24262498">The long-term efficacy of hydrocele treatment with aspiration and sclerotherapy with polidocanol compared to placebo: a prospective, double-blind, randomized study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lund L,
|
||
Kloster A,
|
||
Cao T</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
2014 May;191(5):1347-50.
|
||
Epub 2013 Nov 18
|
||
doi: 10.1016/j.juro.2013.11.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24262498" target="_blank">24262498</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21889272">The differences in testicular volumes in boys 8-36 months old with undescended, retractile and hydrocele testis--usefulness of scrotal screening ultrasound.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jedrzejewski G,
|
||
Wozniak MM,
|
||
Madej T,
|
||
Kryza R,
|
||
Zielonka-Lamparska E,
|
||
Wieczorek AP</span><br />
|
||
<span class="medgenPMjournal">Early Hum Dev</span>
|
||
2012 Mar;88(3):185-9.
|
||
Epub 2011 Sep 1
|
||
doi: 10.1016/j.earlhumdev.2011.07.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21889272" target="_blank">21889272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1552583">Treatment of hydrocele testis with aspiration and injection of polidocanol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lund L,
|
||
Bartolin J</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1992 Apr;147(4):1065-6.
|
||
doi: 10.1016/s0022-5347(17)37470-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1552583" target="_blank">1552583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3181225">Treatment of hydrocele testis by injection of tetracycline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miskowiak J,
|
||
Christensen AB</span><br />
|
||
<span class="medgenPMjournal">Eur Urol</span>
|
||
1988;14(6):440-1.
|
||
doi: 10.1159/000473004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3181225" target="_blank">3181225</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hydrocele%20testis%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32769345">Mesothelioma of the tunica vaginalis testis: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kazaz IO,
|
||
Teoman AS,
|
||
Mungan S</span><br />
|
||
<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
|
||
2020 Jul-Sep;63(3):475-477.
|
||
doi: 10.4103/IJPM.IJPM_780_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32769345" target="_blank">32769345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32366435">Incidental Testicular Pathologies in Patients With Idiopathic Hydrocele Testis: Is Preoperative Scrotal Ultrasound Justified?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kafka M,
|
||
Strohhacker K,
|
||
Aigner F,
|
||
Steinkohl F,
|
||
Horninger W,
|
||
Pichler R,
|
||
Heidegger I</span><br />
|
||
<span class="medgenPMjournal">Anticancer Res</span>
|
||
2020 May;40(5):2861-2864.
|
||
doi: 10.21873/anticanres.14261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32366435" target="_blank">32366435</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29032240">Natural History and Conservative Treatment Outcomes for Hydroceles: A Retrospective Review of One Center's Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acer-Demir T,
|
||
Ekenci BY,
|
||
Özer D,
|
||
Turanoğlu MA,
|
||
Haberal KC,
|
||
Bilgin EB,
|
||
Hiçsönmez A</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2018 Feb;112:155-160.
|
||
Epub 2017 Oct 13
|
||
doi: 10.1016/j.urology.2017.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29032240" target="_blank">29032240</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28809065">Case of hydrocele testis caused by vaginalitis, a rare manifestation of immunoglobulin G4-related disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tokura Y,
|
||
Kobayashi M,
|
||
Kusakabe T,
|
||
Kamai T</span><br />
|
||
<span class="medgenPMjournal">Int J Urol</span>
|
||
2017 Oct;24(10):771-773.
|
||
Epub 2017 Aug 15
|
||
doi: 10.1111/iju.13430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28809065" target="_blank">28809065</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11215203">Acute scrotal swelling in Henoch-Schönlein purpura: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakai N,
|
||
Kawamoto K,
|
||
Fukuoka H,
|
||
Nakajima S,
|
||
Kurozumi H</span><br />
|
||
<span class="medgenPMjournal">Hinyokika Kiyo</span>
|
||
2000 Oct;46(10):739-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11215203" target="_blank">11215203</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hydrocele%20testis%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/29789005">Ultrasonography in diagnosis and analysis of chronic pain following anterior open inguinal herniorrhaphy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qiu ZY,
|
||
Chen Y,
|
||
Tang JX,
|
||
Chen L</span><br />
|
||
<span class="medgenPMjournal">BMC Surg</span>
|
||
2018 May 22;18(1):28.
|
||
doi: 10.1186/s12893-018-0361-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29789005" target="_blank">29789005</a><a href="/pmc/articles/PMC5964915" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21381960">Laparoscopic management of nonpalpable testis: new treatment strategy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kojima Y,
|
||
Mizuno K,
|
||
Kamisawa H,
|
||
Kato T,
|
||
Kohri K,
|
||
Hayashi Y</span><br />
|
||
<span class="medgenPMjournal">J Endourol</span>
|
||
2011 Apr;25(4):635-40.
|
||
Epub 2011 Mar 7
|
||
doi: 10.1089/end.2010.0496.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21381960" target="_blank">21381960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11215203">Acute scrotal swelling in Henoch-Schönlein purpura: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakai N,
|
||
Kawamoto K,
|
||
Fukuoka H,
|
||
Nakajima S,
|
||
Kurozumi H</span><br />
|
||
<span class="medgenPMjournal">Hinyokika Kiyo</span>
|
||
2000 Oct;46(10):739-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11215203" target="_blank">11215203</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1552583">Treatment of hydrocele testis with aspiration and injection of polidocanol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lund L,
|
||
Bartolin J</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1992 Apr;147(4):1065-6.
|
||
doi: 10.1016/s0022-5347(17)37470-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1552583" target="_blank">1552583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3181225">Treatment of hydrocele testis by injection of tetracycline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miskowiak J,
|
||
Christensen AB</span><br />
|
||
<span class="medgenPMjournal">Eur Urol</span>
|
||
1988;14(6):440-1.
|
||
doi: 10.1159/000473004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3181225" target="_blank">3181225</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hydrocele%20testis%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32769345">Mesothelioma of the tunica vaginalis testis: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kazaz IO,
|
||
Teoman AS,
|
||
Mungan S</span><br />
|
||
<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
|
||
2020 Jul-Sep;63(3):475-477.
|
||
doi: 10.4103/IJPM.IJPM_780_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32769345" target="_blank">32769345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21555006">Endocrine assessment of prepubertal boys with a history of cryptorchidism and/or hypospadias: a pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwatsuki S,
|
||
Kojima Y,
|
||
Mizuno K,
|
||
Kamisawa H,
|
||
Umemoto Y,
|
||
Sasaki S,
|
||
Kohri K,
|
||
Hayashi Y</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
2011 Jun;185(6 Suppl):2444-50.
|
||
Epub 2011 Apr 28
|
||
doi: 10.1016/j.juro.2011.01.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21555006" target="_blank">21555006</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18489651">Malignant mesothelioma of the tunica vaginalis testis related to recent asbestos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ikegami Y,
|
||
Kawai N,
|
||
Tozawa K,
|
||
Hayashi Y,
|
||
Kohri K</span><br />
|
||
<span class="medgenPMjournal">Int J Urol</span>
|
||
2008 Jun;15(6):560-1.
|
||
doi: 10.1111/j.1442-2042.2008.02036.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18489651" target="_blank">18489651</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1552583">Treatment of hydrocele testis with aspiration and injection of polidocanol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lund L,
|
||
Bartolin J</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1992 Apr;147(4):1065-6.
|
||
doi: 10.1016/s0022-5347(17)37470-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1552583" target="_blank">1552583</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hydrocele%20testis%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38958226">Prevalence of congenital cryptorchidism in China: A nationwide population-based surveillance study, 2007-2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li W,
|
||
Chen Z,
|
||
Xu W,
|
||
Gao Y,
|
||
Liu Z,
|
||
Li Q,
|
||
Dai L</span><br />
|
||
<span class="medgenPMjournal">Andrology</span>
|
||
2025 Mar;13(3):577-586.
|
||
Epub 2024 Jul 3
|
||
doi: 10.1111/andr.13686.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38958226" target="_blank">38958226</a><a href="/pmc/articles/PMC11867920" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24262498">The long-term efficacy of hydrocele treatment with aspiration and sclerotherapy with polidocanol compared to placebo: a prospective, double-blind, randomized study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lund L,
|
||
Kloster A,
|
||
Cao T</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
2014 May;191(5):1347-50.
|
||
Epub 2013 Nov 18
|
||
doi: 10.1016/j.juro.2013.11.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24262498" target="_blank">24262498</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24330284">Acute scrotum in Kawasaki disease: two case reports and a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jibiki T,
|
||
Sakai T,
|
||
Saitou T,
|
||
Kanazawa M,
|
||
Ide T,
|
||
Fujita M,
|
||
Iida Y,
|
||
Yamazaki S,
|
||
Ishiwada F,
|
||
Sato J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2013 Dec;55(6):771-5.
|
||
doi: 10.1111/ped.12112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24330284" target="_blank">24330284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8586519">Multicystic recurrence of hydrocele testis after sclerosing with polidocanol followed by spontaneous cure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fariña LA,
|
||
Villavicencio H</span><br />
|
||
<span class="medgenPMjournal">Int Urol Nephrol</span>
|
||
1995;27(4):449-50.
|
||
doi: 10.1007/BF02550082.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8586519" target="_blank">8586519</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3181225">Treatment of hydrocele testis by injection of tetracycline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miskowiak J,
|
||
Christensen AB</span><br />
|
||
<span class="medgenPMjournal">Eur Urol</span>
|
||
1988;14(6):440-1.
|
||
doi: 10.1159/000473004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3181225" target="_blank">3181225</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hydrocele%20testis%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>
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<div class="nl"><a target="_blank" href="/pubmed/38982779">Clinical, Pathological and Immunohistochemical Characteristics of Patients with Primary Testicular Lymphoma Undergoing Orchiectomy: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Zhang Y,
|
||
Luo C</span><br />
|
||
<span class="medgenPMjournal">Arch Esp Urol</span>
|
||
2024 Jun;77(5):505-516.
|
||
doi: 10.56434/j.arch.esp.urol.20247705.70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38982779" target="_blank">38982779</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hydrocele%20testis%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1720771%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C1720771%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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