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<meta name="keywords" content="C1864100, disease or syndrome, gnas, gnas-as1, phd ib, phd1b, php 1b, php ib, php1b, pseudohypoparathyroidism ib, pseudohypoparathyroidism ib (php-ib), pseudohypoparathyroidism type 1b, pseudohypoparathyroidism type 1bs, pseudohypoparathyroidism type ib, pseudohypoparathyroidism, type 1b, pseudohypoparathyroidism, type ib, pseudohypoparathyroidisms, type ib, stx16, type ib pseudohypoparathyroidism, type ib pseudohypoparathyroidisms, 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="Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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||
<!--
|
||
UID=350343
|
||
ConceptID=C1864100
|
||
-->
|
||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK459117/bin/gnas-dis-Image001.gif" src-large="/books/NBK459117/bin/gnas-dis-Image001.jpg" /></a><br /><a href="/books/NBK459117/figure/gnas-dis.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Pseudohypoparathyroidism type 1B<span class="h1sub">(PHP1B)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350343</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1864100</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>PHP IB; PHP1B; Pseudohypoparathyroidism Ib (PHP-Ib); Pseudohypoparathyroidism Type IB</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="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</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">Genes (locations):<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="GNAS - ID: 2778 - NCBI Gene" href="/gene/2778" class="medgenPMinfo">GNAS</a> (20q13.32); <a target="_blank" title="GNAS-AS1 - ID: 149775 - NCBI Gene" href="/gene/149775" class="medgenPMinfo">GNAS-AS1</a> (20q13.32); <a target="_blank" title="STX16 - ID: 8675 - NCBI Gene" href="/gene/8675" class="medgenPMinfo">STX16</a> (20q13.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011301" target="_blank">MONDO:0011301</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/603233" target="_blank">603233</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=94089">ORPHA94089</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK459117" target="_blank">Disorders of GNAS Inactivation</a></div><div>Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Summary" target="NBK459117">Summary</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.GeneReview_Scope" target="NBK459117">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Diagnosis" target="NBK459117">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Clinical_Characteristics" target="NBK459117">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Genetically_Related_Allelic_Dis" target="NBK459117">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Differential_Diagnosis" target="NBK459117">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Management" target="NBK459117">Management</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Genetic_Counseling" target="NBK459117">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Resources" target="NBK459117">Resources</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Molecular_Genetics" target="NBK459117">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Chapter_Notes" target="NBK459117">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.References" target="NBK459117">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Chad R Haldeman-Englert | Anna CE Hurst | Michael A Levine <a href="/books/NBK459117" target="NBK459117" title="NCBI Bookshelf: Disorders of GNAS Inactivation">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_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 />Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid hormone (PTH; 168450). Pseudohypoparathyroidism type Ib is characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH. Biochemical studies show a decreased response of urinary cAMP to exogenous PTH, but normal Gs activity in erythrocytes because the defect is restricted to renal tubule cells. In contrast to the findings in PHP Ia, patients with PHP Ib usually lack the physical characteristics of Albright hereditary osteodystrophy (AHO) and typically show no other endocrine abnormalities, although resistance to thyroid-stimulating hormone (TSH; 188540) has been reported in PHP Ib (Levine et al., 1983, Heinsimer et al., 1984). However, patients with PHP Ib may rarely show some features of AHO (Mariot et al., 2008).
|
||
For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580). <a target="_blank" href="http://www.omim.org/entry/603233">http://www.omim.org/entry/603233</a></div></div>
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||
</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_350345"><div><strong>Low urinary cyclic AMP response to PTH administration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350345</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.">C1864105</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350345">Feature record</a> | <a href="/medgen?term=%22Low%20urinary%20cyclic%20AMP%20response%20to%20PTH%20administration%22%5BClinical%20Features%5D%20OR%20350345%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67454"><div><strong>Brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67454</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.">C0221357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67454">Feature record</a> | <a href="/medgen?term=%22Brachydactyly%22%5BClinical%20Features%5D%20OR%2067454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323064"><div><strong>Short metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323064</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.">C1837084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323064">Feature record</a> | <a href="/medgen?term=%22Short%20metacarpal%22%5BClinical%20Features%5D%20OR%20323064%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18127"><div><strong>Obesity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18127</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.">C0028754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of substantial excess body fat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18127">Feature record</a> | <a href="/medgen?term=%22Obesity%22%5BClinical%20Features%5D%20OR%2018127%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5705"><div><strong>Hypocalcemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5705</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.">C0020598</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased calcium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5705">Feature record</a> | <a href="/medgen?term=%22Hypocalcemia%22%5BClinical%20Features%5D%20OR%205705%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39326"><div><strong>Hyperphosphatemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39326</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.">C0085681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased phosphate concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39326">Feature record</a> | <a href="/medgen?term=%22Hyperphosphatemia%22%5BClinical%20Features%5D%20OR%2039326%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_167805"><div><strong>Elevated circulating parathyroid hormone level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167805</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.">C0857973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increased concentration of parathyroid hormone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167805">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20parathyroid%20hormone%20level%22%5BClinical%20Features%5D%20OR%20167805%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_46178"><div><strong>Pseudohypoparathyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46178</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.">C0033806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/46178">Feature record</a> | <a href="/medgen?term=%22Pseudohypoparathyroidism%22%5BClinical%20Features%5D%20OR%2046178%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metacarpal</a></span></li></ul></li><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_167805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating parathyroid hormone level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39326" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypocalcemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_46178" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudohypoparathyroidism</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_350345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low urinary cyclic AMP response to PTH administration</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obesity</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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=C0033806[DISCUI]&test_type=Clinical" ref="ncbi_uid=46178">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK459117/" ref="ncbi_uid=46178">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=46178" ref="ncbi_uid=46178">V</a></span></span><span class="TLline"><a href="/medgen/46178" ref="tree=GTR&ncbi_uid=46178&link_uid=46178" title="View MedGen record for 'Pseudohypoparathyroidism'">Pseudohypoparathyroidism</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864100[DISCUI]&test_type=Clinical" ref="ncbi_uid=350343">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350343" target="_blank" href="/omim/139320">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK459117/" ref="ncbi_uid=350343">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350343" ref="ncbi_uid=350343">V</a></span></span><span class="TLline">Pseudohypoparathyroidism type 1B</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2932716[DISCUI]&test_type=Clinical" ref="ncbi_uid=420958">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=420958" target="_blank" href="/omim/139320">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK459117/" ref="ncbi_uid=420958">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=420958" ref="ncbi_uid=420958">V</a></span></span><span class="TLline"><a href="/medgen/420958" ref="tree=GTR&ncbi_uid=420958&link_uid=420958" title="View MedGen record for 'Pseudohypoparathyroidism type 1C'">Pseudohypoparathyroidism type 1C</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=C3494506[DISCUI]&test_type=Clinical" ref="ncbi_uid=488447">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=488447" target="_blank" href="/omim/103580">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK459117/" ref="ncbi_uid=488447">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=488447" ref="ncbi_uid=488447">V</a></span></span><span class="TLline"><a href="/medgen/488447" ref="tree=GTR&ncbi_uid=488447&link_uid=488447" title="View MedGen record for 'Pseudohypoparathyroidism type I A'">Pseudohypoparathyroidism type I A</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=444371" target="_blank" href="/omim/203330">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/444371" ref="tree=GTR&ncbi_uid=444371&link_uid=444371" title="View MedGen record for 'Pseudohypoparathyroidism type II'">Pseudohypoparathyroidism type II</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=C0033835[DISCUI]&test_type=Clinical" ref="ncbi_uid=10995">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=10995" target="_blank" href="/omim/139320">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK459117/" ref="ncbi_uid=10995">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=10995" ref="ncbi_uid=10995">V</a></span></span><span class="TLline"><a href="/medgen/10995" ref="tree=GTR&ncbi_uid=10995&link_uid=10995" title="View MedGen record for 'Pseudopseudohypoparathyroidism'">Pseudopseudohypoparathyroidism</a></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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/893021" ref="tree=MeSH" title="MedGen record for Abnormality of the endocrine system">Abnormality of the endocrine system</a></span><ul><li><span class="TLline"><a href="/medgen/893009" ref="tree=MeSH" title="MedGen record for Abnormality of the parathyroid gland">Abnormality of the parathyroid gland</a></span><ul><li><span class="TLline"><a href="/medgen/868793" ref="tree=MeSH" title="MedGen record for Abnormality of the parathyroid physiology">Abnormality of the parathyroid physiology</a></span><ul><li><span class="TLline"><a href="/medgen/46178" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism">Pseudohypoparathyroidism</a></span><ul><li><span class="matched_ds">Pseudohypoparathyroidism type 1B</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32756064">Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantovani G,
|
||
Bastepe M,
|
||
Monk D,
|
||
de Sanctis L,
|
||
Thiele S,
|
||
Ahmed SF,
|
||
Bufo R,
|
||
Choplin T,
|
||
De Filippo G,
|
||
Devernois G,
|
||
Eggermann T,
|
||
Elli FM,
|
||
Garcia Ramirez A,
|
||
Germain-Lee EL,
|
||
Groussin L,
|
||
Hamdy NAT,
|
||
Hanna P,
|
||
Hiort O,
|
||
Jüppner H,
|
||
Kamenický P,
|
||
Knight N,
|
||
Le Norcy E,
|
||
Lecumberri B,
|
||
Levine MA,
|
||
Mäkitie O,
|
||
Martin R,
|
||
Martos-Moreno GÁ,
|
||
Minagawa M,
|
||
Murray P,
|
||
Pereda A,
|
||
Pignolo R,
|
||
Rejnmark L,
|
||
Rodado R,
|
||
Rothenbuhler A,
|
||
Saraff V,
|
||
Shoemaker AH,
|
||
Shore EM,
|
||
Silve C,
|
||
Turan S,
|
||
Woods P,
|
||
Zillikens MC,
|
||
Perez de Nanclares G,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2020;93(3):182-196.
|
||
Epub 2020 Aug 5
|
||
doi: 10.1159/000508985.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32756064" target="_blank">32756064</a><a href="/pmc/articles/PMC8140671" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29959430">Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantovani G,
|
||
Bastepe M,
|
||
Monk D,
|
||
de Sanctis L,
|
||
Thiele S,
|
||
Usardi A,
|
||
Ahmed SF,
|
||
Bufo R,
|
||
Choplin T,
|
||
De Filippo G,
|
||
Devernois G,
|
||
Eggermann T,
|
||
Elli FM,
|
||
Freson K,
|
||
García Ramirez A,
|
||
Germain-Lee EL,
|
||
Groussin L,
|
||
Hamdy N,
|
||
Hanna P,
|
||
Hiort O,
|
||
Jüppner H,
|
||
Kamenický P,
|
||
Knight N,
|
||
Kottler ML,
|
||
Le Norcy E,
|
||
Lecumberri B,
|
||
Levine MA,
|
||
Mäkitie O,
|
||
Martin R,
|
||
Martos-Moreno GÁ,
|
||
Minagawa M,
|
||
Murray P,
|
||
Pereda A,
|
||
Pignolo R,
|
||
Rejnmark L,
|
||
Rodado R,
|
||
Rothenbuhler A,
|
||
Saraff V,
|
||
Shoemaker AH,
|
||
Shore EM,
|
||
Silve C,
|
||
Turan S,
|
||
Woods P,
|
||
Zillikens MC,
|
||
Perez de Nanclares G,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2018 Aug;14(8):476-500.
|
||
doi: 10.1038/s41574-018-0042-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29959430" target="_blank">29959430</a><a href="/pmc/articles/PMC6541219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25916756">Treatment of heterotopic ossifications secondary to pseudohypoparathyroid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guigonis V,
|
||
Bahans C,
|
||
Ea K,
|
||
Bourrat E,
|
||
Lienhardt A,
|
||
Chabre O,
|
||
Jost J,
|
||
Mutar H,
|
||
Ratsimbazafy V,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2015 May;76(2):183-4.
|
||
Epub 2015 Apr 24
|
||
doi: 10.1016/j.ando.2015.03.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25916756" target="_blank">25916756</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pseudohypoparathyroidism%20type%201b)%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 (34)</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/35119251">Autosomal dominant pseudohypoparathyroidism type 1b due to STX16 deletion: a case presentation and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kostopoulos G,
|
||
Tzikos G,
|
||
Sortsis A,
|
||
Toulis K</span><br />
|
||
<span class="medgenPMjournal">Minerva Endocrinol (Torino)</span>
|
||
2024 Jun;49(2):217-225.
|
||
Epub 2022 Feb 4
|
||
doi: 10.23736/S2724-6507.20.03233-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35119251" target="_blank">35119251</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38039118">(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urakawa T,
|
||
Sano S,
|
||
Kawashima S,
|
||
Nakamura A,
|
||
Shima H,
|
||
Ohta M,
|
||
Yamada Y,
|
||
Nishida A,
|
||
Narusawa H,
|
||
Ohtsu Y,
|
||
Matsubara K,
|
||
Dateki S,
|
||
Maruo Y,
|
||
Fukami M,
|
||
Ogata T,
|
||
Kagami M</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2023 Dec 6;189(6):590-600.
|
||
doi: 10.1093/ejendo/lvad163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38039118" target="_blank">38039118</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34157100">High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Danzig J,
|
||
Li D,
|
||
Jan de Beur S,
|
||
Levine MA</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2021 Oct 21;106(11):e4603-e4620.
|
||
doi: 10.1210/clinem/dgab460.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34157100" target="_blank">34157100</a><a href="/pmc/articles/PMC8677598" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33320452">An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramalho E Silva JD,
|
||
da Rocha GFMA,
|
||
Oliveira MJM</span><br />
|
||
<span class="medgenPMjournal">Arch Endocrinol Metab</span>
|
||
2021 Nov 1;65(1):112-116.
|
||
Epub 2020 Dec 15
|
||
doi: 10.20945/2359-3997000000316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33320452" target="_blank">33320452</a><a href="/pmc/articles/PMC10528691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28648114">Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia C,
|
||
Correia CR,
|
||
Lopes L</span><br />
|
||
<span class="medgenPMjournal">Paediatr Int Child Health</span>
|
||
2018 Nov;38(4):281-284.
|
||
Epub 2017 Jun 26
|
||
doi: 10.1080/20469047.2017.1341730.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28648114" target="_blank">28648114</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pseudohypoparathyroidism%20type%201B%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38423572">Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van der Biest AM,
|
||
Jüppner H,
|
||
Andreescu C,
|
||
Bravenboer B</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2024 Feb 29;17(2)
|
||
doi: 10.1136/bcr-2023-258403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38423572" target="_blank">38423572</a><a href="/pmc/articles/PMC10910484" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38290008">GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwasaki Y,
|
||
Reyes M,
|
||
Jüppner H,
|
||
Bastepe M</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2024 Mar 8;9(5)
|
||
doi: 10.1172/jci.insight.177190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38290008" target="_blank">38290008</a><a href="/pmc/articles/PMC10972583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35119251">Autosomal dominant pseudohypoparathyroidism type 1b due to STX16 deletion: a case presentation and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kostopoulos G,
|
||
Tzikos G,
|
||
Sortsis A,
|
||
Toulis K</span><br />
|
||
<span class="medgenPMjournal">Minerva Endocrinol (Torino)</span>
|
||
2024 Jun;49(2):217-225.
|
||
Epub 2022 Feb 4
|
||
doi: 10.23736/S2724-6507.20.03233-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35119251" target="_blank">35119251</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38039118">(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urakawa T,
|
||
Sano S,
|
||
Kawashima S,
|
||
Nakamura A,
|
||
Shima H,
|
||
Ohta M,
|
||
Yamada Y,
|
||
Nishida A,
|
||
Narusawa H,
|
||
Ohtsu Y,
|
||
Matsubara K,
|
||
Dateki S,
|
||
Maruo Y,
|
||
Fukami M,
|
||
Ogata T,
|
||
Kagami M</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2023 Dec 6;189(6):590-600.
|
||
doi: 10.1093/ejendo/lvad163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38039118" target="_blank">38039118</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35232562">Intracranial calcifications in pseudohypoparathyroidism type 1b: Report of four cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lecumberri Santamaría B,
|
||
Ruiz Sánchez JG,
|
||
de León Fuentes B,
|
||
Álvarez Escolá C,
|
||
Herranz de la Morena L</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Diabetes Nutr (Engl Ed)</span>
|
||
2022 Jan;69(1):70-72.
|
||
doi: 10.1016/j.endien.2020.09.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35232562" target="_blank">35232562</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pseudohypoparathyroidism%20type%201B%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 (42)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38423572">Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van der Biest AM,
|
||
Jüppner H,
|
||
Andreescu C,
|
||
Bravenboer B</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2024 Feb 29;17(2)
|
||
doi: 10.1136/bcr-2023-258403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38423572" target="_blank">38423572</a><a href="/pmc/articles/PMC10910484" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26628282">Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srivastava T,
|
||
Krudys J,
|
||
Mardis NJ,
|
||
Sebestyen-VanSickle J,
|
||
Alon US</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2016 May;31(5):795-800.
|
||
Epub 2015 Dec 1
|
||
doi: 10.1007/s00467-015-3271-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26628282" target="_blank">26628282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22736772">Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neary NM,
|
||
El-Maouche D,
|
||
Hopkins R,
|
||
Libutti SK,
|
||
Moses AM,
|
||
Weinstein LS</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2012 Sep;97(9):3025-30.
|
||
Epub 2012 Jun 26
|
||
doi: 10.1210/jc.2012-1655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22736772" target="_blank">22736772</a><a href="/pmc/articles/PMC3431579" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19000547">Successful off-label use of cinacalcet HCl after standard therapy failure in a young man with pseudohypoparathyroidism Type 1b and vitamin D intoxication sequelae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koch M,
|
||
Kohnle M</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2008 Nov;70(5):439-44.
|
||
doi: 10.5414/cnp70439.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19000547" target="_blank">19000547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18703582">A review of known imprinting syndromes and their association with assisted reproduction technologies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amor DJ,
|
||
Halliday J</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2008 Dec;23(12):2826-34.
|
||
Epub 2008 Aug 14
|
||
doi: 10.1093/humrep/den310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18703582" target="_blank">18703582</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pseudohypoparathyroidism%20type%201B%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34157100">High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Danzig J,
|
||
Li D,
|
||
Jan de Beur S,
|
||
Levine MA</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2021 Oct 21;106(11):e4603-e4620.
|
||
doi: 10.1210/clinem/dgab460.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34157100" target="_blank">34157100</a><a href="/pmc/articles/PMC8677598" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33320452">An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramalho E Silva JD,
|
||
da Rocha GFMA,
|
||
Oliveira MJM</span><br />
|
||
<span class="medgenPMjournal">Arch Endocrinol Metab</span>
|
||
2021 Nov 1;65(1):112-116.
|
||
Epub 2020 Dec 15
|
||
doi: 10.20945/2359-3997000000316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33320452" target="_blank">33320452</a><a href="/pmc/articles/PMC10528691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29240265">Bone Mineral Density and Its Serial Changes Are Associated With PTH Levels in Pseudohypoparathyroidism Type 1B Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chu X,
|
||
Zhu Y,
|
||
Wang O,
|
||
Nie M,
|
||
Quan T,
|
||
Xue Y,
|
||
Wang W,
|
||
Jiang Y,
|
||
Li M,
|
||
Xia W,
|
||
Xing X</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2018 Apr;33(4):743-752.
|
||
Epub 2018 Jan 3
|
||
doi: 10.1002/jbmr.3360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29240265" target="_blank">29240265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28648114">Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia C,
|
||
Correia CR,
|
||
Lopes L</span><br />
|
||
<span class="medgenPMjournal">Paediatr Int Child Health</span>
|
||
2018 Nov;38(4):281-284.
|
||
Epub 2017 Jun 26
|
||
doi: 10.1080/20469047.2017.1341730.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28648114" target="_blank">28648114</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19000547">Successful off-label use of cinacalcet HCl after standard therapy failure in a young man with pseudohypoparathyroidism Type 1b and vitamin D intoxication sequelae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koch M,
|
||
Kohnle M</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2008 Nov;70(5):439-44.
|
||
doi: 10.5414/cnp70439.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19000547" target="_blank">19000547</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pseudohypoparathyroidism%20type%201B%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38039118">(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urakawa T,
|
||
Sano S,
|
||
Kawashima S,
|
||
Nakamura A,
|
||
Shima H,
|
||
Ohta M,
|
||
Yamada Y,
|
||
Nishida A,
|
||
Narusawa H,
|
||
Ohtsu Y,
|
||
Matsubara K,
|
||
Dateki S,
|
||
Maruo Y,
|
||
Fukami M,
|
||
Ogata T,
|
||
Kagami M</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2023 Dec 6;189(6):590-600.
|
||
doi: 10.1093/ejendo/lvad163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38039118" target="_blank">38039118</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35859320">Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kawashima S,
|
||
Yuno A,
|
||
Sano S,
|
||
Nakamura A,
|
||
Ishiwata K,
|
||
Kawasaki T,
|
||
Hosomichi K,
|
||
Nakabayashi K,
|
||
Akutsu H,
|
||
Saitsu H,
|
||
Fukami M,
|
||
Usui T,
|
||
Ogata T,
|
||
Kagami M</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2022 Oct;37(10):1850-1859.
|
||
Epub 2022 Aug 17
|
||
doi: 10.1002/jbmr.4652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35859320" target="_blank">35859320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33320452">An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramalho E Silva JD,
|
||
da Rocha GFMA,
|
||
Oliveira MJM</span><br />
|
||
<span class="medgenPMjournal">Arch Endocrinol Metab</span>
|
||
2021 Nov 1;65(1):112-116.
|
||
Epub 2020 Dec 15
|
||
doi: 10.20945/2359-3997000000316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33320452" target="_blank">33320452</a><a href="/pmc/articles/PMC10528691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28902630">Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandez M,
|
||
Zambrano MJ,
|
||
Riquelme J,
|
||
Castiglioni C,
|
||
Kottler ML,
|
||
Jüppner H,
|
||
Mericq V</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2017 Oct 26;30(10):1125-1132.
|
||
doi: 10.1515/jpem-2017-0226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28902630" target="_blank">28902630</a><a href="/pmc/articles/PMC5938740" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27882740">Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goto M,
|
||
Yamamoto Y,
|
||
Ishii M,
|
||
Nakamura A,
|
||
Sano S,
|
||
Kagami M,
|
||
Fukami M,
|
||
Saito R,
|
||
Araki S,
|
||
Kubo K,
|
||
Kawagoe R,
|
||
Kawada Y,
|
||
Kusuhara K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2016 Nov;58(11):1229-1231.
|
||
doi: 10.1111/ped.13096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27882740" target="_blank">27882740</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pseudohypoparathyroidism%20type%201B%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</a></div></div>
|
||
</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">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1864100%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864100%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864100%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864100%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (37)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864100%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1864100%5bDISCUI%5d" target="_blank">See all (48)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=603233" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=94089" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Pseudohypoparathyroidism%20type%201B" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pseudohypoparathyroidism%20type%201b)%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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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=139320%20603666%20610540" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2778[geneid]" target="_blank">View GNAS variations in ClinVar</a></li><li><a href="/clinvar/?term=8675[geneid]" target="_blank">View STX16 variations in ClinVar</a></li><li><a href="/clinvar/?term=149775[geneid]" target="_blank">View GNAS-AS1 variations in ClinVar</a></li><li><a href="/nuccore/226529895,281182534,298160928" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=603233" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Pseudohypoparathyroidism+type+1B/6036" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/pseudohypoparathyroidism_type_ib_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Pseudohypoparathyroidism%20type%201B" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10680/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
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</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/29072892" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Pseudohypoparathyroidism%20type%201B" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Pseudohypoparathyroidism%20type%201B%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=350343" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=350343" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1864100[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1864100[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=350343" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=350343" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=350343" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=350343" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=350343" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=350343" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=350343" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
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</li>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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