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<meta name="keywords" content="C0431693, adtkd-hnf1b, adtkd3, atypical familial juvenile hyperuricemic nephropathy, atypical fjhn, cakut with diabetes, congenital anomalies of the kidney and urinary tract with diabetes, disease or syndrome, familial hypoplastic glomerulocystic kidney, familial hypoplastic, glomerulocystic kidney, fjhn atypical, fjhn, atypical, glomerulocystic kidney disease, hypoplastic type, glomerulocystic kidney, familial hypoplastic, hepatocyte nuclear factor 1-beta-associated monogenic diabetes, hnf1b, hnf1b (hnf1 homeobox b) monogenic diabetes mellitus, hnf1b monogenic diabetes mellitus, hnf1b-mody, hnf1b-mody - hnf1 homeobox b maturity-onset diabetes of the young type 5, hnf1b-related autosomal dominant tubulointerstitial kidney disease, hnf1b-related nephropathy, hnf1b-related renal cysts and diabetes syndrome, hyperuricemic nephropathy, familial juvenile, atypical, hypoplastic type glomerulocystic kidney disease, maturity onset diabetes of the young, type 5, maturity-onset diabetes of the young type 5, maturity-onset diabetes of the young, type 5, mody type 5, mody5, mody5 - maturity-onset diabetes of the young type 5, rcad, rcad syndrome, renal cysts and diabetes syndrome, renal cysts-maturity-onset diabetes of the young syndrome, renal dysfunction-early-onset diabetes syndrome, tubulointerstitial kidney disease, autosomal dominant, 3, 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="17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85%-90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=96569
|
||
ConceptID=C0431693
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Renal cysts and diabetes syndrome<span class="h1sub">(RCAD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96569</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.">C0431693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Familial hypoplastic, glomerulocystic kidney; FJHN atypical; Glomerulocystic kidney disease, hypoplastic type; Hyperuricemic nephropathy, familial juvenile, atypical; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5; MODY type 5; RCAD</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Maturity-onset diabetes of the young, type 5 (609572000); MODY5 - maturity-onset diabetes of the young type 5 (609572000); Renal cysts and diabetes syndrome (609572000); Familial hypoplastic, glomerulocystic kidney (253864004); HNF1B-MODY - HNF1 homeobox B maturity-onset diabetes of the young type 5 (609572000); HNF1B (HNF1 homeobox B) monogenic diabetes mellitus (609572000); HNF1B monogenic diabetes mellitus (609572000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="HNF1B - ID: 6928 - NCBI Gene" href="/gene/6928" class="medgenPMinfo">HNF1B</a> (17q12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007669" target="_blank">MONDO:0007669</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/137920" target="_blank">137920</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93111">ORPHA93111</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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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">17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85%-90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Renal cysts and diabetes syndrome (RCAD) is an autosomal dominant multisystemic disorder with significant phenotypic heterogeneity. It is characterized by (1) nondiabetic renal disease resulting from abnormal renal development, and (2) diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelvises, abnormal calyces, small kidney, single kidney, and horseshoe kidney. Some patients with renal disease have hyperuricemic nephropathy with tubulointerstitial changes on biopsy, consistent with autosomal dominant tubulointerstitial kidney disease (ADTKD). Affected individuals may also have abnormalities of the genital tract, including vaginal aplasia, rudimentary uterus, bicornuate uterus, epididymal cysts, and atresia of the vas deferens (Bingham et al., 2001; Fajans et al., 2001; Bellanne-Chantelot et al., 2004; Edghill et al., 2006; summary by Devuyst et al., 2019).
|
||
For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.
|
||
For a discussion of genetic heterogeneity of ADTKD and a discussion of the revised nomenclature of these disorders, see ADTKD1 (162000).
|
||
The renal abnormalities are part of a spectrum of malformations known as congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Nakayama et al., 2010). <a target="_blank" href="http://www.omim.org/entry/137920">http://www.omim.org/entry/137920</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_42267"><div><strong>Glycosuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42267</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.">C0017979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of glucose in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42267">Feature record</a> | <a href="/medgen?term=%22Glycosuria%22%5BClinical%20Features%5D%20OR%2042267%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78593"><div><strong>Abnormality of the kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78593</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.">C0266292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78593">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20kidney%22%5BClinical%20Features%5D%20OR%2078593%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75607"><div><strong>Unilateral renal agenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75607</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.">C0266294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A unilateral form of agenesis of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75607">Feature record</a> | <a href="/medgen?term=%22Unilateral%20renal%20agenesis%22%5BClinical%20Features%5D%20OR%2075607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120571"><div><strong>Renal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120571</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.">C0266295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoplasia of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120571">Feature record</a> | <a href="/medgen?term=%22Renal%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120571%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78599"><div><strong>Bicornuate uterus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78599</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.">C0266387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a bicornuate uterus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78599">Feature record</a> | <a href="/medgen?term=%22Bicornuate%20uterus%22%5BClinical%20Features%5D%20OR%2078599%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120575"><div><strong>Uterine hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120575</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.">C0266399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the uterus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120575">Feature record</a> | <a href="/medgen?term=%22Uterine%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120575%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75613"><div><strong>Atretic vas deferens</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75613</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.">C0266445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal closure or blockage of the vas deferens.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75613">Feature record</a> | <a href="/medgen?term=%22Atretic%20vas%20deferens%22%5BClinical%20Features%5D%20OR%2075613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98227"><div><strong>Nephrolithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98227</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.">C0392525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of calculi (stones) in the kidneys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98227">Feature record</a> | <a href="/medgen?term=%22Nephrolithiasis%22%5BClinical%20Features%5D%20OR%2098227%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105482"><div><strong>Ureteropelvic junction obstruction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105482</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.">C0521619</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blockage of urine flow from the renal pelvis to the proximal ureter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105482">Feature record</a> | <a href="/medgen?term=%22Ureteropelvic%20junction%20obstruction%22%5BClinical%20Features%5D%20OR%20105482%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155422"><div><strong>Abnormality of the genital system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155422</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.">C0744356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the genital system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155422">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20genital%20system%22%5BClinical%20Features%5D%20OR%20155422%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163083"><div><strong>Hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163083</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.">C0848558</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163083">Feature record</a> | <a href="/medgen?term=%22Hypospadias%22%5BClinical%20Features%5D%20OR%20163083%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_384526"><div><strong>Stage 5 chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384526</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.">C2316810</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384526">Feature record</a> | <a href="/medgen?term=%22Stage%205%20chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20384526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_436031"><div><strong>Decreased numbers of nephrons</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436031</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.">C2673888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the count of nephrons per kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436031">Feature record</a> | <a href="/medgen?term=%22Decreased%20numbers%20of%20nephrons%22%5BClinical%20Features%5D%20OR%20436031%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854361"><div><strong>Renal cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854361</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.">C3887499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A fluid filled sac in the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854361">Feature record</a> | <a href="/medgen?term=%22Renal%20cyst%22%5BClinical%20Features%5D%20OR%20854361%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_893156"><div><strong>Multiple glomerular cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893156</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.">C4022013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/893156">Feature record</a> | <a href="/medgen?term=%22Multiple%20glomerular%20cysts%22%5BClinical%20Features%5D%20OR%20893156%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_907698"><div><strong>Reduced sperm motility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907698</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.">C4082176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in the mobility of ejaculated sperm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/907698">Feature record</a> | <a href="/medgen?term=%22Reduced%20sperm%20motility%22%5BClinical%20Features%5D%20OR%20907698%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1633142"><div><strong>Abnormal renal morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633142</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.">C4551596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any structural anomaly of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1633142">Feature record</a> | <a href="/medgen?term=%22Abnormal%20renal%20morphology%22%5BClinical%20Features%5D%20OR%201633142%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1778106"><div><strong>Epididymal cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778106</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.">C5442141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A smooth, extratesticular, spherical cyst in the head of the epididymis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778106">Feature record</a> | <a href="/medgen?term=%22Epididymal%20cyst%22%5BClinical%20Features%5D%20OR%201778106%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101808"><div><strong>Pancreatic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101808</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.">C0152014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wasting (shrinking) of the pancreas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101808">Feature record</a> | <a href="/medgen?term=%22Pancreatic%20atrophy%22%5BClinical%20Features%5D%20OR%20101808%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_539808"><div><strong>Pancreatic hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>539808</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.">C0266267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoplasia of the pancreas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/539808">Feature record</a> | <a href="/medgen?term=%22Pancreatic%20hypoplasia%22%5BClinical%20Features%5D%20OR%20539808%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75647"><div><strong>Exocrine pancreatic insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75647</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.">C0267963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75647">Feature record</a> | <a href="/medgen?term=%22Exocrine%20pancreatic%20insufficiency%22%5BClinical%20Features%5D%20OR%2075647%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108201"><div><strong>Biliary tract abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108201</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.">C0549613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the biliary tree.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108201">Feature record</a> | <a href="/medgen?term=%22Biliary%20tract%20abnormality%22%5BClinical%20Features%5D%20OR%20108201%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646740"><div><strong>Cerebral cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646740</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.">C4551583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the cortex of the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646740">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%201646740%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42280"><div><strong>Gout</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42280</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.">C0018099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42280">Feature record</a> | <a href="/medgen?term=%22Gout%22%5BClinical%20Features%5D%20OR%2042280%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8350"><div><strong>Diabetes mellitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8350</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.">C0011849</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A group of abnormalities characterized by hyperglycemia and glucose intolerance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8350">Feature record</a> | <a href="/medgen?term=%22Diabetes%20mellitus%22%5BClinical%20Features%5D%20OR%208350%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_852424"><div><strong>Impaired glucose tolerance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>852424</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.">C0151671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/852424">Feature record</a> | <a href="/medgen?term=%22Impaired%20glucose%20tolerance%22%5BClinical%20Features%5D%20OR%20852424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116013"><div><strong>Elevated circulating hepatic transaminase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116013</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.">C0235996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116013">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20hepatic%20transaminase%20concentration%22%5BClinical%20Features%5D%20OR%20116013%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75760"><div><strong>Glucose intolerance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75760</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.">C0271650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75760">Feature record</a> | <a href="/medgen?term=%22Glucose%20intolerance%22%5BClinical%20Features%5D%20OR%2075760%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87433"><div><strong>Maturity onset diabetes mellitus in young</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87433</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.">C0342276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008). Genetic Heterogeneity of MODY MODY1 (125850) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; 600281) on chromosome 20. MODY2 (125851) is caused by heterozygous mutation in the glucokinase gene (GCK; 138079) on chromosome 7. MODY3 (600496) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A; 142410) on chromosome 12q24. MODY4 (606392) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1; 600733) on chromosome 13q12. MODY5 (137920) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2; 189907) on chromosome 17q12. MODY6 (606394) is caused by heterozygous mutation in the NEUROD1 gene (601724) on chromosome 2q31. MODY7 (610508) is caused by heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25. MODY8 (609812), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene (114840) on chromosome 9q34. MODY9 (612225) is caused by heterozygous mutation in the PAX4 gene (167413) on chromosome 7q32. MODY10 (613370) is caused by heterozygous mutation in the insulin gene (INS; 176730) on chromosome 11p15. MODY11 (613375) is caused by heterozygous mutation in the BLK gene (191305) on chromosome 8p23. MODY13 (616329) is caused by heterozygous mutation in the KCNJ11 gene (600937) on chromosome 11p15. MODY14 (616511) is caused by heterozygous mutation in the APPL1 gene (604299) on chromosome 3p14.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/87433">Feature record</a> | <a href="/medgen?term=%22Maturity%20onset%20diabetes%20mellitus%20in%20young%22%5BClinical%20Features%5D%20OR%2087433%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_148579"><div><strong>Elevated circulating creatinine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148579</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.">C0700225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of creatinine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148579">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatinine%20concentration%22%5BClinical%20Features%5D%20OR%20148579%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_149260"><div><strong>Hyperuricemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>149260</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.">C0740394</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high level of uric acid in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/149260">Feature record</a> | <a href="/medgen?term=%22Hyperuricemia%22%5BClinical%20Features%5D%20OR%20149260%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892397"><div><strong>Abnormality of alkaline phosphatase level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892397</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.">C4025328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of alkaline phosphatase level.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892397">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20alkaline%20phosphatase%20level%22%5BClinical%20Features%5D%20OR%20892397%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892397" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of alkaline phosphatase level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes mellitus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_148579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatinine concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating hepatic transaminase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucose intolerance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_149260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperuricemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_852424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired glucose tolerance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Maturity onset diabetes mellitus in young</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108201" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biliary tract abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exocrine pancreatic insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_539808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic hypoplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1633142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal renal morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the genital system</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78593" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the kidney</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atretic vas deferens</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78599" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bicornuate uterus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_436031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased numbers of nephrons</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1778106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epididymal cyst</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycosuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypospadias</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_893156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple glomerular cysts</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_907698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced sperm motility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cyst</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stage 5 chronic kidney disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unilateral renal agenesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105482" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ureteropelvic junction obstruction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120575" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uterine hypoplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gout</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortical atrophy</a></span></li></ul></li></ul></div></div>
|
||
</div>
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||
|
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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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268113[DISCUI]&test_type=Clinical" ref="ncbi_uid=75651">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/75651" ref="tree=GTR&ncbi_uid=75651&link_uid=75651" title="View MedGen record for 'Familial juvenile gout'">Familial juvenile gout</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551496[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645893">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645893" target="_blank" href="/omim/162000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1356/" ref="ncbi_uid=1645893">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1645893" ref="ncbi_uid=1645893">V</a></span></span><span class="TLline"><a href="/medgen/1645893" ref="tree=GTR&ncbi_uid=1645893&link_uid=1645893" title="View MedGen record for 'Familial juvenile hyperuricemic nephropathy type 1'">Familial juvenile hyperuricemic nephropathy type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751310[DISCUI]&test_type=Clinical" ref="ncbi_uid=414347">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414347" target="_blank" href="/omim/179820">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK53700/" ref="ncbi_uid=414347">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414347" ref="ncbi_uid=414347">V</a></span></span><span class="TLline"><a href="/medgen/414347" ref="tree=GTR&ncbi_uid=414347&link_uid=414347" title="View MedGen record for 'Familial juvenile hyperuricemic nephropathy type 2'">Familial juvenile hyperuricemic nephropathy type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481846" target="_blank" href="/omim/614227">O</a></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=481846" ref="ncbi_uid=481846">V</a></span></span><span class="TLline"><a href="/medgen/481846" ref="tree=GTR&ncbi_uid=481846&link_uid=481846" title="View MedGen record for 'Hyperuricemic nephropathy, familial juvenile type 3'">Hyperuricemic nephropathy, familial juvenile type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310741[DISCUI]&test_type=Clinical" ref="ncbi_uid=934708">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934708" target="_blank" href="/omim/609213">O</a></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=934708" ref="ncbi_uid=934708">V</a></span></span><span class="TLline"><a href="/medgen/934708" ref="tree=GTR&ncbi_uid=934708&link_uid=934708" title="View MedGen record for 'Hyperuricemic nephropathy, familial juvenile type 4'">Hyperuricemic nephropathy, familial juvenile type 4</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0431693[DISCUI]&test_type=Clinical" ref="ncbi_uid=96569">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=96569" target="_blank" href="/omim/137920">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK401562%20OR%20NBK500456)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=96569">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=96569" ref="ncbi_uid=96569">V</a></span></span><span class="TLline">Renal cysts and diabetes syndrome</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842297" ref="tree=MeSH" title="MedGen record for Familial cystic renal disease">Familial cystic renal disease</a></span><ul><li><span class="TLline"><a href="/medgen/1377523" ref="tree=MeSH" title="MedGen record for Autosomal dominant medullary cystic kidney disease with or without hyperuricemia">Autosomal dominant medullary cystic kidney disease with or without hyperuricemia</a></span><ul><li><span class="matched_ds">Renal cysts and diabetes syndrome</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</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/35065907">Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generationsequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng L,
|
||
Liu Y,
|
||
Yuan M,
|
||
Meng M,
|
||
Yang Y,
|
||
Sun L</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2022 Mar 1;528:16-28.
|
||
Epub 2022 Jan 20
|
||
doi: 10.1016/j.cca.2022.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065907" target="_blank">35065907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21521318">Who should have genetic testing for maturity-onset diabetes of the young?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naylor R,
|
||
Philipson LH</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2011 Oct;75(4):422-6.
|
||
doi: 10.1111/j.1365-2265.2011.04049.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21521318" target="_blank">21521318</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22renal%20cysts%20and%20diabetes%20syndrome%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 (2)</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/36398477">Estimate of genetic variants using CNV-Seq for fetuses with oligohydramnios or polyhydramnios.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi P,
|
||
Hou Y,
|
||
Chen D,
|
||
Ren H,
|
||
Xia Y,
|
||
Kong X</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2023 Jan;11(1):e2089.
|
||
Epub 2022 Nov 18
|
||
doi: 10.1002/mgg3.2089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36398477" target="_blank">36398477</a><a href="/pmc/articles/PMC9834137" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35240056">The individual and global impact of copy-number variants on complex human traits.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auwerx C,
|
||
Lepamets M,
|
||
Sadler MC,
|
||
Patxot M,
|
||
Stojanov M,
|
||
Baud D,
|
||
Mägi R;
|
||
Estonian Biobank Research Team,
|
||
Porcu E,
|
||
Reymond A,
|
||
Kutalik Z</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2022 Apr 7;109(4):647-668.
|
||
Epub 2022 Mar 2
|
||
doi: 10.1016/j.ajhg.2022.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35240056" target="_blank">35240056</a><a href="/pmc/articles/PMC9069145" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34176013">Blood pressure in children with renal cysts and diabetes syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seeman T,
|
||
Weigel F,
|
||
Blahova K,
|
||
Fencl F,
|
||
Pruhova S,
|
||
Hermes K,
|
||
Klaus R,
|
||
Lange-Sperandio B,
|
||
Grote V,
|
||
John-Kroegel U</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2021 Dec;180(12):3599-3603.
|
||
Epub 2021 Jun 26
|
||
doi: 10.1007/s00431-021-04165-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34176013" target="_blank">34176013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30778115">Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ricci P,
|
||
Magalhães P,
|
||
Krochmal M,
|
||
Pejchinovski M,
|
||
Daina E,
|
||
Caruso MR,
|
||
Goea L,
|
||
Belczacka I,
|
||
Remuzzi G,
|
||
Umbhauer M,
|
||
Drube J,
|
||
Pape L,
|
||
Mischak H,
|
||
Decramer S,
|
||
Schaefer F,
|
||
Schanstra JP,
|
||
Cereghini S,
|
||
Zürbig P</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Feb 18;9(1):2225.
|
||
doi: 10.1038/s41598-019-38713-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30778115" target="_blank">30778115</a><a href="/pmc/articles/PMC6379363" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21163139">Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen YZ,
|
||
Gao Q,
|
||
Zhao XZ,
|
||
Chen YZ,
|
||
Bennett CL,
|
||
Xiong XS,
|
||
Mei CL,
|
||
Shi YQ,
|
||
Chen XM</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2010 Nov;123(22):3326-33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21163139" target="_blank">21163139</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20cysts%20and%20diabetes%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35846334">The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ge S,
|
||
Yang M,
|
||
Cui Y,
|
||
Wu J,
|
||
Xu L,
|
||
Dong J,
|
||
Liao L</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:911526.
|
||
Epub 2022 Jun 30
|
||
doi: 10.3389/fendo.2022.911526.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35846334" target="_blank">35846334</a><a href="/pmc/articles/PMC9281895" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35065907">Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generationsequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng L,
|
||
Liu Y,
|
||
Yuan M,
|
||
Meng M,
|
||
Yang Y,
|
||
Sun L</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2022 Mar 1;528:16-28.
|
||
Epub 2022 Jan 20
|
||
doi: 10.1016/j.cca.2022.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065907" target="_blank">35065907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34176013">Blood pressure in children with renal cysts and diabetes syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seeman T,
|
||
Weigel F,
|
||
Blahova K,
|
||
Fencl F,
|
||
Pruhova S,
|
||
Hermes K,
|
||
Klaus R,
|
||
Lange-Sperandio B,
|
||
Grote V,
|
||
John-Kroegel U</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2021 Dec;180(12):3599-3603.
|
||
Epub 2021 Jun 26
|
||
doi: 10.1007/s00431-021-04165-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34176013" target="_blank">34176013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33011132">Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berberich AJ,
|
||
Wang J,
|
||
Cao H,
|
||
McIntyre AD,
|
||
Spaic T,
|
||
Miller DB,
|
||
Stock S,
|
||
Huot C,
|
||
Stein R,
|
||
Knoll J,
|
||
Yang P,
|
||
Robinson JF,
|
||
Hegele RA</span><br />
|
||
<span class="medgenPMjournal">Can J Diabetes</span>
|
||
2021 Feb;45(1):71-77.
|
||
Epub 2020 Jun 8
|
||
doi: 10.1016/j.jcjd.2020.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33011132" target="_blank">33011132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30778115">Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ricci P,
|
||
Magalhães P,
|
||
Krochmal M,
|
||
Pejchinovski M,
|
||
Daina E,
|
||
Caruso MR,
|
||
Goea L,
|
||
Belczacka I,
|
||
Remuzzi G,
|
||
Umbhauer M,
|
||
Drube J,
|
||
Pape L,
|
||
Mischak H,
|
||
Decramer S,
|
||
Schaefer F,
|
||
Schanstra JP,
|
||
Cereghini S,
|
||
Zürbig P</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Feb 18;9(1):2225.
|
||
doi: 10.1038/s41598-019-38713-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30778115" target="_blank">30778115</a><a href="/pmc/articles/PMC6379363" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20cysts%20and%20diabetes%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (38)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38056891">When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sonner S,
|
||
Reilly K,
|
||
Woolf AS,
|
||
Chandler N,
|
||
Kilby MD,
|
||
Maher ER,
|
||
Flanagan C,
|
||
McKnight AJ,
|
||
Mone F</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2024 Feb;44(2):187-195.
|
||
Epub 2023 Dec 6
|
||
doi: 10.1002/pd.6479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38056891" target="_blank">38056891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32871938">Maturity-Onset diabetes of the young type 5 treated with the glucagon-like peptide-1 receptor agonist: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Terakawa A,
|
||
Chujo D,
|
||
Yasuda K,
|
||
Ueno K,
|
||
Nakamura T,
|
||
Hamano S,
|
||
Ohsugi M,
|
||
Tanabe A,
|
||
Ueki K,
|
||
Kajio H</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2020 Aug 28;99(35):e21939.
|
||
doi: 10.1097/MD.0000000000021939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32871938" target="_blank">32871938</a><a href="/pmc/articles/PMC7458169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32756155">A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tao T,
|
||
Yang Y,
|
||
Hu Z</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2020 Jul 31;99(31):e21438.
|
||
doi: 10.1097/MD.0000000000021438.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32756155" target="_blank">32756155</a><a href="/pmc/articles/PMC7402722" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28349214">Diabetes in a child on growth hormone therapy: Answers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aldridge M,
|
||
Huynh T,
|
||
Prado J,
|
||
McTaggart SJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2018 Jan;33(1):79-80.
|
||
Epub 2017 Mar 27
|
||
doi: 10.1007/s00467-017-3651-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28349214" target="_blank">28349214</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21654266">Placebo-controlled, double-blind study of the non-purine-selective xanthine oxidase inhibitor Febuxostat (TMX-67) in patients with hyperuricemia including those with gout in Japan: phase 3 clinical study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamatani N,
|
||
Fujimori S,
|
||
Hada T,
|
||
Hosoya T,
|
||
Kohri K,
|
||
Nakamura T,
|
||
Ueda T,
|
||
Yamamoto T,
|
||
Yamanaka H,
|
||
Matsuzawa Y</span><br />
|
||
<span class="medgenPMjournal">J Clin Rheumatol</span>
|
||
2011 Jun;17(4 Suppl 2):S19-26.
|
||
doi: 10.1097/RHU.0b013e31821d36de.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21654266" target="_blank">21654266</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20cysts%20and%20diabetes%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35065907">Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generationsequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng L,
|
||
Liu Y,
|
||
Yuan M,
|
||
Meng M,
|
||
Yang Y,
|
||
Sun L</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2022 Mar 1;528:16-28.
|
||
Epub 2022 Jan 20
|
||
doi: 10.1016/j.cca.2022.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065907" target="_blank">35065907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33737325">Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niborski LL,
|
||
Paces-Fessy M,
|
||
Ricci P,
|
||
Bourgeois A,
|
||
Magalhães P,
|
||
Kuzma-Kuzniarska M,
|
||
Lesaulnier C,
|
||
Reczko M,
|
||
Declercq E,
|
||
Zürbig P,
|
||
Doucet A,
|
||
Umbhauer M,
|
||
Cereghini S</span><br />
|
||
<span class="medgenPMjournal">Dis Model Mech</span>
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||
2021 May 1;14(5)
|
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Epub 2021 May 4
|
||
doi: 10.1242/dmm.047498.
|
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<span class="bold">PMID: </span><a href="/pubmed/33737325" target="_blank">33737325</a><a href="/pmc/articles/PMC8126479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33011132">Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berberich AJ,
|
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Wang J,
|
||
Cao H,
|
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McIntyre AD,
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Spaic T,
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Miller DB,
|
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Stock S,
|
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Huot C,
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Stein R,
|
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Knoll J,
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Yang P,
|
||
Robinson JF,
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Hegele RA</span><br />
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<span class="medgenPMjournal">Can J Diabetes</span>
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2021 Feb;45(1):71-77.
|
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Epub 2020 Jun 8
|
||
doi: 10.1016/j.jcjd.2020.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33011132" target="_blank">33011132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31131422">Clinical characteristics of HNF1B-related disorders in a Japanese population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagano C,
|
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Morisada N,
|
||
Nozu K,
|
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Kamei K,
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||
Tanaka R,
|
||
Kanda S,
|
||
Shiona S,
|
||
Araki Y,
|
||
Ohara S,
|
||
Matsumura C,
|
||
Kasahara K,
|
||
Mori Y,
|
||
Seo A,
|
||
Miura K,
|
||
Washiyama M,
|
||
Sugimoto K,
|
||
Harada R,
|
||
Tazoe S,
|
||
Kourakata H,
|
||
Enseki M,
|
||
Aotani D,
|
||
Yamada T,
|
||
Sakakibara N,
|
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Yamamura T,
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||
Minamikawa S,
|
||
Ishikura K,
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||
Ito S,
|
||
Hattori M,
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Iijima K</span><br />
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<span class="medgenPMjournal">Clin Exp Nephrol</span>
|
||
2019 Sep;23(9):1119-1129.
|
||
Epub 2019 May 27
|
||
doi: 10.1007/s10157-019-01747-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31131422" target="_blank">31131422</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15085338">Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harries LW,
|
||
Ellard S,
|
||
Jones RW,
|
||
Hattersley AT,
|
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Bingham C</span><br />
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<span class="medgenPMjournal">Diabetologia</span>
|
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2004 May;47(5):937-42.
|
||
Epub 2004 Apr 15
|
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doi: 10.1007/s00125-004-1383-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15085338" target="_blank">15085338</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20cysts%20and%20diabetes%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33737325">Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niborski LL,
|
||
Paces-Fessy M,
|
||
Ricci P,
|
||
Bourgeois A,
|
||
Magalhães P,
|
||
Kuzma-Kuzniarska M,
|
||
Lesaulnier C,
|
||
Reczko M,
|
||
Declercq E,
|
||
Zürbig P,
|
||
Doucet A,
|
||
Umbhauer M,
|
||
Cereghini S</span><br />
|
||
<span class="medgenPMjournal">Dis Model Mech</span>
|
||
2021 May 1;14(5)
|
||
Epub 2021 May 4
|
||
doi: 10.1242/dmm.047498.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33737325" target="_blank">33737325</a><a href="/pmc/articles/PMC8126479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33527355">Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quilichini E,
|
||
Fabre M,
|
||
Nord C,
|
||
Dirami T,
|
||
Le Marec A,
|
||
Cereghini S,
|
||
Pasek RC,
|
||
Gannon M,
|
||
Ahlgren U,
|
||
Haumaitre C</span><br />
|
||
<span class="medgenPMjournal">J Pathol</span>
|
||
2021 May;254(1):31-45.
|
||
Epub 2021 Mar 18
|
||
doi: 10.1002/path.5629.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33527355" target="_blank">33527355</a><a href="/pmc/articles/PMC8251562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31131422">Clinical characteristics of HNF1B-related disorders in a Japanese population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagano C,
|
||
Morisada N,
|
||
Nozu K,
|
||
Kamei K,
|
||
Tanaka R,
|
||
Kanda S,
|
||
Shiona S,
|
||
Araki Y,
|
||
Ohara S,
|
||
Matsumura C,
|
||
Kasahara K,
|
||
Mori Y,
|
||
Seo A,
|
||
Miura K,
|
||
Washiyama M,
|
||
Sugimoto K,
|
||
Harada R,
|
||
Tazoe S,
|
||
Kourakata H,
|
||
Enseki M,
|
||
Aotani D,
|
||
Yamada T,
|
||
Sakakibara N,
|
||
Yamamura T,
|
||
Minamikawa S,
|
||
Ishikura K,
|
||
Ito S,
|
||
Hattori M,
|
||
Iijima K</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Nephrol</span>
|
||
2019 Sep;23(9):1119-1129.
|
||
Epub 2019 May 27
|
||
doi: 10.1007/s10157-019-01747-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31131422" target="_blank">31131422</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30791938">Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinon M,
|
||
Carboni M,
|
||
Colavito D,
|
||
Cisarò F,
|
||
Peruzzi L,
|
||
Pizzol A,
|
||
Calosso G,
|
||
David E,
|
||
Calvo PL</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2019 Feb 21;45(1):27.
|
||
doi: 10.1186/s13052-019-0617-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30791938" target="_blank">30791938</a><a href="/pmc/articles/PMC6385394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15085338">Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harries LW,
|
||
Ellard S,
|
||
Jones RW,
|
||
Hattersley AT,
|
||
Bingham C</span><br />
|
||
<span class="medgenPMjournal">Diabetologia</span>
|
||
2004 May;47(5):937-42.
|
||
Epub 2004 Apr 15
|
||
doi: 10.1007/s00125-004-1383-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15085338" target="_blank">15085338</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20cysts%20and%20diabetes%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38056891">When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sonner S,
|
||
Reilly K,
|
||
Woolf AS,
|
||
Chandler N,
|
||
Kilby MD,
|
||
Maher ER,
|
||
Flanagan C,
|
||
McKnight AJ,
|
||
Mone F</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2024 Feb;44(2):187-195.
|
||
Epub 2023 Dec 6
|
||
doi: 10.1002/pd.6479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38056891" target="_blank">38056891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35846334">The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ge S,
|
||
Yang M,
|
||
Cui Y,
|
||
Wu J,
|
||
Xu L,
|
||
Dong J,
|
||
Liao L</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:911526.
|
||
Epub 2022 Jun 30
|
||
doi: 10.3389/fendo.2022.911526.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35846334" target="_blank">35846334</a><a href="/pmc/articles/PMC9281895" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35065907">Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generationsequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng L,
|
||
Liu Y,
|
||
Yuan M,
|
||
Meng M,
|
||
Yang Y,
|
||
Sun L</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2022 Mar 1;528:16-28.
|
||
Epub 2022 Jan 20
|
||
doi: 10.1016/j.cca.2022.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065907" target="_blank">35065907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21163139">Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen YZ,
|
||
Gao Q,
|
||
Zhao XZ,
|
||
Chen YZ,
|
||
Bennett CL,
|
||
Xiong XS,
|
||
Mei CL,
|
||
Shi YQ,
|
||
Chen XM</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2010 Nov;123(22):3326-33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21163139" target="_blank">21163139</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20cysts%20and%20diabetes%20syndrome%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<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 id="my-toc"></ul></div>
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</div>
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0431693%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (69)</a></li>
|
||
<li><a href="/gtr/tests?term=C0431693%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0431693%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0431693%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (67)</a></li>
|
||
<li><a href="/gtr/tests?term=C0431693%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (19)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0431693%5bDISCUI%5d" target="_blank">See all (85)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=137920" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=93111" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Renal%20cysts%20and%20diabetes%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22renal%20cysts%20and%20diabetes%20syndrome%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=96569" ref="log$=recordlinks">PubMed (OMIM)</a>
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