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<!--
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UID=867444
|
||
ConceptID=C4021821
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the urinary system</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867444</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.">C4021821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Urinary tract abnormalities</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:0000079">HP:0000079</a></td></tr>
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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">An abnormality of the urinary system. [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>
|
||
<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=C4021821[DISCUI]&test_type=Clinical" ref="ncbi_uid=867444">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=867444" ref="ncbi_uid=867444">V</a></span></span><span class="TLline">Abnormality of the urinary system</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/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><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="matched_ds">Abnormality of the urinary system</span><ul><li><span class="TLline"><a href="/medgen/869218" ref="tree=MeSH" title="MedGen record for Abnormality of the lower urinary tract">Abnormality of the lower urinary tract</a></span><ul><li><span class="TLline"><a href="/medgen/488778" ref="tree=MeSH" title="MedGen record for Abnormality of the bladder">Abnormality of the bladder</a></span><ul><li><span class="TLline"><a href="/medgen/1392208" ref="tree=MeSH" title="MedGen record for Abnormal bladder morphology">Abnormal bladder morphology</a></span></li><li><span class="TLline"><a href="/medgen/812913" ref="tree=MeSH" title="MedGen record for Functional abnormality of the bladder">Functional abnormality of the bladder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871336" ref="tree=MeSH" title="MedGen record for Abnormality of the urethra">Abnormality of the urethra</a></span><ul><li><span class="TLline"><a href="/medgen/1864228" ref="tree=MeSH" title="MedGen record for Abnormal urethral discharge">Abnormal urethral discharge</a></span></li><li><span class="TLline"><a href="/medgen/576882" ref="tree=MeSH" title="MedGen record for Atresia of urethra">Atresia of urethra</a></span></li><li><span class="TLline"><a href="/medgen/897132" ref="tree=MeSH" title="MedGen record for Congenital megalourethra">Congenital megalourethra</a></span></li><li><span class="TLline"><a href="/medgen/870199" ref="tree=MeSH" title="MedGen record for Distal urethral duplication">Distal urethral duplication</a></span></li><li><span class="TLline"><a href="/medgen/1388077" ref="tree=MeSH" title="MedGen record for Patulous urethra">Patulous urethra</a></span></li><li><span class="TLline"><a href="/medgen/57776" ref="tree=MeSH" title="MedGen record for Urethral diverticulum">Urethral diverticulum</a></span></li><li><span class="TLline"><a href="/medgen/12015" ref="tree=MeSH" title="MedGen record for Urethral obstruction">Urethral obstruction</a></span></li><li><span class="TLline"><a href="/medgen/52934" ref="tree=MeSH" title="MedGen record for Urethritis">Urethritis</a></span></li><li><span class="TLline"><a href="/medgen/867587" ref="tree=MeSH" title="MedGen record for Urogenital sinus anomaly">Urogenital sinus anomaly</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/869219" ref="tree=MeSH" title="MedGen record for Abnormality of the upper urinary tract">Abnormality of the upper urinary tract</a></span><ul><li><span class="TLline"><a href="/medgen/78593" ref="tree=MeSH" title="MedGen record for Abnormality of the kidney">Abnormality of the kidney</a></span><ul><li><span class="TLline"><a href="/medgen/1633142" ref="tree=MeSH" title="MedGen record for Abnormal renal morphology">Abnormal renal morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/374455" ref="tree=MeSH" title="MedGen record for Abnormality of the ureter">Abnormality of the ureter</a></span><ul><li><span class="TLline"><a href="/medgen/1685655" ref="tree=MeSH" title="MedGen record for Abnormal ureter morphology">Abnormal ureter morphology</a></span></li><li><span class="TLline"><a href="/medgen/1706709" ref="tree=MeSH" title="MedGen record for Abnormal ureter physiology">Abnormal ureter physiology</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/508816" ref="tree=MeSH" title="MedGen record for Abnormal renal physiology">Abnormal renal physiology</a></span><ul><li><span class="TLline"><a href="/medgen/489765" ref="tree=MeSH" title="MedGen record for Abnormal glomerular filtration rate">Abnormal glomerular filtration rate</a></span></li><li><span class="TLline"><a href="/medgen/869159" ref="tree=MeSH" title="MedGen record for Abnormality of renal excretion">Abnormality of renal excretion</a></span></li><li><span class="TLline"><a href="/medgen/869319" ref="tree=MeSH" title="MedGen record for Elevated alkaline phosphatase of renal origin">Elevated alkaline phosphatase of renal origin</a></span></li><li><span class="TLline"><a href="/medgen/42403" ref="tree=MeSH" title="MedGen record for Hemolytic-uremic syndrome">Hemolytic-uremic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1378965" ref="tree=MeSH" title="MedGen record for Impaired urinary acidification">Impaired urinary acidification</a></span></li><li><span class="TLline"><a href="/medgen/868273" ref="tree=MeSH" title="MedGen record for Isothenuria">Isothenuria</a></span></li><li><span class="TLline"><a href="/medgen/9635" ref="tree=MeSH" title="MedGen record for Kidney disorder">Kidney disorder</a></span></li><li><span class="TLline"><a href="/medgen/869314" ref="tree=MeSH" title="MedGen record for Low alkaline phosphatase of renal origin">Low alkaline phosphatase of renal origin</a></span></li><li><span class="TLline"><a href="/medgen/10308" ref="tree=MeSH" title="MedGen record for Nephrotic syndrome">Nephrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/332529" ref="tree=MeSH" title="MedGen record for Renal insufficiency">Renal insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/57484" ref="tree=MeSH" title="MedGen record for Renal tubular dysfunction">Renal tubular dysfunction</a></span></li><li><span class="TLline"><a href="/medgen/43786" ref="tree=MeSH" title="MedGen record for Renovascular hypertension">Renovascular hypertension</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871178" ref="tree=MeSH" title="MedGen record for Abnormality of urine homeostasis">Abnormality of urine homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1746789" ref="tree=MeSH" title="MedGen record for Abnormal macroscopic urine appearance">Abnormal macroscopic urine appearance</a></span></li><li><span class="TLline"><a href="/medgen/868439" ref="tree=MeSH" title="MedGen record for Abnormal urinary electrolyte concentration">Abnormal urinary electrolyte concentration</a></span></li><li><span class="TLline"><a href="/medgen/1707884" ref="tree=MeSH" title="MedGen record for Abnormal urinary mineral level">Abnormal urinary mineral level</a></span></li><li><span class="TLline"><a href="/medgen/154411" ref="tree=MeSH" title="MedGen record for Abnormal urine cytology">Abnormal urine cytology</a></span></li><li><span class="TLline"><a href="/medgen/1785188" ref="tree=MeSH" title="MedGen record for Abnormal urine metabolite level">Abnormal urine metabolite level</a></span></li><li><span class="TLline"><a href="/medgen/1780537" ref="tree=MeSH" title="MedGen record for Abnormal urine osmolality">Abnormal urine osmolality</a></span></li><li><span class="TLline"><a href="/medgen/1716739" ref="tree=MeSH" title="MedGen record for Abnormal urine pH">Abnormal urine pH</a></span></li><li><span class="TLline"><a href="/medgen/491" ref="tree=MeSH" title="MedGen record for Bacteriuria">Bacteriuria</a></span></li><li><span class="TLline"><a href="/medgen/508780" ref="tree=MeSH" title="MedGen record for Crystalluria">Crystalluria</a></span></li><li><span class="TLline"><a href="/medgen/350345" ref="tree=MeSH" title="MedGen record for Low urinary cyclic AMP response to PTH administration">Low urinary cyclic AMP response to PTH administration</a></span></li><li><span class="TLline"><a href="/medgen/871133" ref="tree=MeSH" title="MedGen record for Parathormone-independent increased renal tubular calcium reabsorption">Parathormone-independent increased renal tubular calcium reabsorption</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120466" ref="tree=MeSH" title="MedGen record for Recurrent urinary tract infections">Recurrent urinary tract infections</a></span><ul><li><span class="TLline"><a href="/medgen/664131" ref="tree=MeSH" title="MedGen record for Recurrent cystitis">Recurrent cystitis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/853235" ref="tree=MeSH" title="MedGen record for Urinary tract atresia">Urinary tract atresia</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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||
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||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_75665"><div><strong>Infantile GM1 gangliosidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75665</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.">C0268271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75665">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162881"><div><strong>Smith-Magenis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162881</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.">C0795864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/162881">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_208654"><div><strong>Kapur-Toriello syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208654</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.">C0796005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare syndrome with characteristics of facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Only four cases have been reported in the literature, in three unrelated families. Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies. The condition seems to be inherited as an autosomal recessive trait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208654">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347120"><div><strong>Hepatic fibrosis-renal cysts-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347120</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.">C1859300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347120">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_824577"><div><strong>Glucocorticoid-remediable aldosteronism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>824577</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.">C3838731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hyperaldosteronism type I (HALD1), also referred to as glucocorticoid-remediable aldosteronism (GRA), is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (HALD2; 605635) is caused by mutation in the CLCN2 gene (600570) on chromosome 3q27. Familial hyperaldosteronism type III (HALD3; 613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. Familial hyperaldosteronism type IV (HALD4; 617027) is caused by mutation in the CACNA1H gene (607904) on chromosome 16p13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/824577">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1826125"><div><strong>Renal tubular dysgenesis of genetic origin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1826125</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.">C5681536</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1826125">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_824577" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucocorticoid-remediable aldosteronism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347120" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic fibrosis-renal cysts-intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile GM1 gangliosidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kapur-Toriello syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1826125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular dysgenesis of genetic origin</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Magenis syndrome</a></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/32323520">Guidelines of the Italian Society of Videosurgery in Infancy for the minimally invasive treatment of the ureteropelvic-junction obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiarenza SF,
|
||
Bleve C,
|
||
Esposito C,
|
||
Escolino M,
|
||
Beretta F,
|
||
Cheli M,
|
||
Di Benedetto V,
|
||
Scuderi MG,
|
||
Casadio G,
|
||
Marzaro M,
|
||
Facetti LF,
|
||
Bagolan P,
|
||
Vella C,
|
||
Conighi ML,
|
||
Codric D,
|
||
Nappo S,
|
||
Caione P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Med Chir</span>
|
||
2019 Dec 19;41(2)
|
||
doi: 10.4081/pmc.2019.232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32323520" target="_blank">32323520</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20the%20urinary%20system%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 (1)</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/30819578">Congenital urinary tract obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheung KW,
|
||
Morris RK,
|
||
Kilby MD</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2019 Jul;58:78-92.
|
||
Epub 2019 Jan 11
|
||
doi: 10.1016/j.bpobgyn.2019.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30819578" target="_blank">30819578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25435247">Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen HT,
|
||
Benson CB,
|
||
Bromley B,
|
||
Campbell JB,
|
||
Chow J,
|
||
Coleman B,
|
||
Cooper C,
|
||
Crino J,
|
||
Darge K,
|
||
Herndon CD,
|
||
Odibo AO,
|
||
Somers MJ,
|
||
Stein DR</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2014 Dec;10(6):982-98.
|
||
Epub 2014 Nov 15
|
||
doi: 10.1016/j.jpurol.2014.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25435247" target="_blank">25435247</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20824455">The prevalence of congenital anomalies in Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dolk H,
|
||
Loane M,
|
||
Garne E</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2010;686:349-64.
|
||
doi: 10.1007/978-90-481-9485-8_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20824455" target="_blank">20824455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18065301">Dysplastic kidneys.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winyard P,
|
||
Chitty LS</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2008 Jun;13(3):142-51.
|
||
Epub 2007 Dec 11
|
||
doi: 10.1016/j.siny.2007.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18065301" target="_blank">18065301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9643292">Meckel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salonen R,
|
||
Paavola P</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1998 Jun;35(6):497-501.
|
||
doi: 10.1136/jmg.35.6.497.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9643292" target="_blank">9643292</a><a href="/pmc/articles/PMC1051345" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20urinary%20system%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 (2275)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33513074">Congenital Anomalies of the Upper Urinary Tract: A Comprehensive Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Houat AP,
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Takahashi MS,
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Rodi GP,
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<span class="bold">PMID: </span><a href="/pubmed/33513074" target="_blank">33513074</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33168213">Exencephaly-anencephaly Sequence.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine,
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Monteagudo A</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/33168213" target="_blank">33168213</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31964759">Health Care Supervision for Children With Williams Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Morris CA,
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Braddock SR;
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COUNCIL ON GENETICS</span><br />
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<span class="medgenPMjournal">Pediatrics</span>
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2020 Feb;145(2)
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<div class="nl"><a target="_blank" href="/pubmed/25435247">Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen HT,
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Benson CB,
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Bromley B,
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Campbell JB,
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Chow J,
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Coleman B,
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Cooper C,
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Crino J,
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<div class="nl"><a target="_blank" href="/pubmed/34983214">Recurrent urinary tract infections in adults: a practical guide.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hughes T,
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2021 Dec 2;82(12):1-11.
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<span class="bold">PMID: </span><a href="/pubmed/34983214" target="_blank">34983214</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Xu Y,
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Luo C,
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<div class="nl"><a target="_blank" href="/pubmed/30895288">Clinical Practice Guideline for the Management of Asymptomatic Bacteriuria: 2019 Update by the Infectious Diseases Society of America.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nicolle LE,
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Gupta K,
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Colgan R,
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DeMuri GP,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20urinary%20system%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 (1108)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34507788">Duplicated collecting system.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
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<span class="bold">PMID: </span><a href="/pubmed/34507788" target="_blank">34507788</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/29551554" target="_blank">29551554</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25435247">Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen HT,
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Benson CB,
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Bromley B,
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Campbell JB,
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Chow J,
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Coleman B,
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Cooper C,
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Crino J,
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Darge K,
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Herndon CD,
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Odibo AO,
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Somers MJ,
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Stein DR</span><br />
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<span class="medgenPMjournal">J Pediatr Urol</span>
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<span class="bold">PMID: </span><a href="/pubmed/25435247" target="_blank">25435247</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20824455">The prevalence of congenital anomalies in Europe.</a></div>
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Loane M,
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<div class="nl"><a target="_blank" href="/pubmed/17651510">Anorectal malformations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Levitt MA,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20urinary%20system%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 (1184)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/25435247">Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen HT,
|
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Benson CB,
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Bromley B,
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Campbell JB,
|
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Chow J,
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Coleman B,
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Cooper C,
|
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Crino J,
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Darge K,
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Herndon CD,
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Odibo AO,
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Somers MJ,
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Stein DR</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/25435247" target="_blank">25435247</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18065301">Dysplastic kidneys.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Winyard P,
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<span class="bold">PMID: </span><a href="/pubmed/17651510" target="_blank">17651510</a><a href="/pmc/articles/PMC1971061" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/6149320">Hypertelorism-hypospadias syndrome.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20urinary%20system%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 (1408)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/35670032">The prevalence for the risk of serious infection in hypothermic infants ≤ 60 days: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Delaney KM,
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Bober JG,
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Koos JA,
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Hom J</span><br />
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<span class="medgenPMjournal">Acad Emerg Med</span>
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2023 Jan;30(1):40-44.
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Epub 2022 Jun 30
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doi: 10.1111/acem.14547.
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<span class="bold">PMID: </span><a href="/pubmed/35670032" target="_blank">35670032</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31868304">The experience of donating and receiving a kidney: A systematic review of qualitative studies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rota-Musoll L,
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Subirana-Casacuberta M,
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Oriol-Vila E,
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Homs-Del Valle M,
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Molina-Robles E,
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Brigidi S</span><br />
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<span class="medgenPMjournal">J Ren Care</span>
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2020 Sep;46(3):169-184.
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Epub 2019 Dec 23
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doi: 10.1111/jorc.12309.
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<span class="bold">PMID: </span><a href="/pubmed/31868304" target="_blank">31868304</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29165061">Posterior nutcracker syndrome - a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Park JH,
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Lee GH,
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Lee SM,
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Eisenhut M,
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Kronbichler A,
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Lee KH,
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2018 Jan;47(1):23-29.
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Epub 2017 Nov 22
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<span class="bold">PMID: </span><a href="/pubmed/29165061" target="_blank">29165061</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26537987">The presentation and management of complex female genital malformations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Acién P,
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Acién M</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/26537987" target="_blank">26537987</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25891319">Follow-up of the neuro-urological patient: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Averbeck MA,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20urinary%20system%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 (38)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div>
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4021821%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
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