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<meta name="keywords" content="C0342642, adhr, autosomal dominant hereditary hypophosphatemic rickets, autosomal dominant hypophosphatemia, autosomal dominant hypophosphatemia rickets, autosomal dominant hypophosphatemic rickets, disease or syndrome, fgf23, hereditary hypophosphatemic rickets, autosomal dominant, hypophosphatemia, autosomal dominant, hypophosphatemic rickets, autosomal dominant, vitamin d-resistant rickets, autosomal dominant, 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="Autosomal dominant hypophosphatemic rickets (ADHR) is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH; 307800), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997). See also hypophosphatemic bone disease (146350). Genetic Heterogeneity of Hypophosphatemic Rickets Other forms of hypophosphatemic rickets include autosomal recessive forms, i.e., ARHR1 (241520), caused by mutation in the DMP1 gene (600980) on chromosome 4q21, and ARHR2 (613312), caused by mutation in the ENPP1 gene (173335) on chromosome 6q23. An X-linked dominant form (XLHR; 307800) is caused by mutation in the PHEX gene (300550), and an X-linked recessive form (300554) is caused by mutation in the CLCN5 gene (300008). Clinical Variability of Hypophosphatemic Rickets Hypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, 264700). A form of hypophosphatemic rickets with hypercalciuria (HHRH; 241530) is caused by mutation in the SLC34A3 gene (609826), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (612089) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO; 604824)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=83346
|
||
ConceptID=C0342642
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal dominant hypophosphatemic rickets<span class="h1sub">(ADHR)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83346</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:">C0342642</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>ADHR; HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANT; VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autosomal dominant hypophosphatemic rickets (237889002)</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="FGF23 - ID: 8074 - NCBI Gene" href="/gene/8074" class="medgenPMinfo">FGF23</a> (12p13.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008660" target="_blank">MONDO:0008660</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/193100" target="_blank">193100</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=89937">ORPHA89937</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_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">Autosomal dominant hypophosphatemic rickets (ADHR) is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH; 307800), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997). See also hypophosphatemic bone disease (146350). Genetic Heterogeneity of Hypophosphatemic Rickets Other forms of hypophosphatemic rickets include autosomal recessive forms, i.e., ARHR1 (241520), caused by mutation in the DMP1 gene (600980) on chromosome 4q21, and ARHR2 (613312), caused by mutation in the ENPP1 gene (173335) on chromosome 6q23. An X-linked dominant form (XLHR; 307800) is caused by mutation in the PHEX gene (300550), and an X-linked recessive form (300554) is caused by mutation in the CLCN5 gene (300008). Clinical Variability of Hypophosphatemic Rickets Hypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, 264700). A form of hypophosphatemic rickets with hypercalciuria (HHRH; 241530) is caused by mutation in the SLC34A3 gene (609826), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (612089) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO; 604824). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</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 MedlinePlus Genetics</strong><br />Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.<br /><br />In most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features of the disorder vary widely, even among affected members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees. These abnormalities become apparent with weight-bearing activities such as walking. If untreated, they tend to worsen with time.<br /><br />Other signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia.<br /><br />Researchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer.<br /><br />Another rare type of the disorder is known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this condition is characterized by the excretion of high levels of calcium in the urine (hypercalciuria). <a target="_blank" href="https://medlineplus.gov/genetics/condition/hereditary-hypophosphatemic-rickets">https://medlineplus.gov/genetics/condition/hereditary-hypophosphatemic-rickets</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_57489"><div><strong>Bone pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57489</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.">C0151825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57489">Feature record</a> | <a href="/medgen?term=%22Bone%20pain%22%5BClinical%20Features%5D%20OR%2057489%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335116"><div><strong>Renal phosphate wasting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335116</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.">C1845169</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">High urine phosphate in the presence of hypophosphatemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335116">Feature record</a> | <a href="/medgen?term=%22Renal%20phosphate%20wasting%22%5BClinical%20Features%5D%20OR%20335116%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_242750"><div><strong>Abnormality of the lower limb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>242750</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.">C1096086</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the leg.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/242750">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20lower%20limb%22%5BClinical%20Features%5D%20OR%20242750%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14533"><div><strong>Osteomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14533</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.">C0029442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14533">Feature record</a> | <a href="/medgen?term=%22Osteomalacia%22%5BClinical%20Features%5D%20OR%2014533%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48470"><div><strong>Rickets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48470</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.">C0035579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48470">Feature record</a> | <a href="/medgen?term=%22Rickets%22%5BClinical%20Features%5D%20OR%2048470%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155433"><div><strong>Generalized muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155433</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.">C0746674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155433">Feature record</a> | <a href="/medgen?term=%22Generalized%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20155433%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_309957"><div><strong>Hypophosphatemic rickets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>309957</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.">C1704375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/309957">Feature record</a> | <a href="/medgen?term=%22Hypophosphatemic%20rickets%22%5BClinical%20Features%5D%20OR%20309957%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39327"><div><strong>Hypophosphatemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39327</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.">C0085682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased phosphate concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39327">Feature record</a> | <a href="/medgen?term=%22Hypophosphatemia%22%5BClinical%20Features%5D%20OR%2039327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_727252"><div><strong>Elevated circulating alkaline phosphatase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>727252</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.">C1314665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased serum levels of alkaline phosphatase activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/727252">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alkaline%20phosphatase%20concentration%22%5BClinical%20Features%5D%20OR%20727252%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78084"><div><strong>Abnormality of the dentition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78084</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.">C0262444</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any abnormality of the teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78084">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20dentition%22%5BClinical%20Features%5D%20OR%2078084%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the dentition</a></span></li></ul></li><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_242750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the lower limb</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_727252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alkaline phosphatase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemia</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_335116" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal phosphate wasting</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_155433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_309957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic rickets</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14533" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteomalacia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rickets</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone pain</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_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</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><li><a href="#tabORDO">Orphanet</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=C0035579[DISCUI]&test_type=Clinical" ref="ncbi_uid=48470">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=48470" ref="ncbi_uid=48470">V</a></span></span><span class="TLline"><a href="/medgen/48470" ref="tree=GTR&ncbi_uid=48470&link_uid=48470" title="View MedGen record for 'Rickets'">Rickets</a></span><ul><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 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/927864" ref="tree=GTR&ncbi_uid=927864&link_uid=927864" title="View MedGen record for 'Hypocalcemic rickets'">Hypocalcemic rickets</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=C1704375[DISCUI]&test_type=Clinical" ref="ncbi_uid=309957">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=309957" ref="ncbi_uid=309957">V</a></span></span><span class="TLline"><a href="/medgen/309957" ref="tree=GTR&ncbi_uid=309957&link_uid=309957" title="View MedGen record for 'Hypophosphatemic rickets'">Hypophosphatemic rickets</a></span><ul><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 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/980781" ref="tree=GTR&ncbi_uid=980781&link_uid=980781" title="View MedGen record for 'Hereditary hypophosphatemic rickets'">Hereditary hypophosphatemic rickets</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=C0342642[DISCUI]&test_type=Clinical" ref="ncbi_uid=83346">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0342642[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=83346">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=83346" target="_blank" href="/omim/193100">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=83346" ref="ncbi_uid=83346">V</a></span></span><span class="TLline">Autosomal dominant hypophosphatemic rickets</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0733682[DISCUI]&test_type=Clinical" ref="ncbi_uid=196551">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=196551" target="_blank" href="/omim/300550">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK83985/" ref="ncbi_uid=196551">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=196551" ref="ncbi_uid=196551">V</a></span></span><span class="TLline"><a href="/medgen/196551" ref="tree=GTR&ncbi_uid=196551&link_uid=196551" title="View MedGen record for 'Familial X-linked hypophosphatemic vitamin D refractory rickets'">Familial X-linked hypophosphatemic vitamin D refractory rickets</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=C4551495[DISCUI]&test_type=Clinical" ref="ncbi_uid=1632314">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1632314" target="_blank" href="/omim/241520">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=1632314" ref="ncbi_uid=1632314">V</a></span></span><span class="TLline"><a href="/medgen/1632314" ref="tree=GTR&ncbi_uid=1632314&link_uid=1632314" title="View MedGen record for 'Hypophosphatemic rickets, autosomal recessive, 1'">Hypophosphatemic rickets, autosomal recessive, 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=C2750078[DISCUI]&test_type=Clinical" ref="ncbi_uid=442380">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442380" target="_blank" href="/omim/173335">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=442380" ref="ncbi_uid=442380">V</a></span></span><span class="TLline"><a href="/medgen/442380" ref="tree=GTR&ncbi_uid=442380&link_uid=442380" title="View MedGen record for 'Hypophosphatemic rickets, autosomal recessive, 2'">Hypophosphatemic rickets, autosomal recessive, 2</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=C1845168[DISCUI]&test_type=Clinical" ref="ncbi_uid=335115">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1845168[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=335115">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335115" target="_blank" href="/omim/300008">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=335115" ref="ncbi_uid=335115">V</a></span></span><span class="TLline"><a href="/medgen/335115" ref="tree=GTR&ncbi_uid=335115&link_uid=335115" title="View MedGen record for 'Hypophosphatemic rickets, X-linked recessive'">Hypophosphatemic rickets, X-linked recessive</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0221468[DISCUI]&test_type=Clinical" ref="ncbi_uid=526251">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=526251" ref="ncbi_uid=526251">V</a></span></span><span class="TLline"><a href="/medgen/526251" ref="tree=GTR&ncbi_uid=526251&link_uid=526251" title="View MedGen record for 'Vitamin D-dependent rickets'">Vitamin D-dependent rickets</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/1701080" ref="tree=MeSH" title="MedGen record for Abnormal circulating metabolite concentration">Abnormal circulating metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/312393" ref="tree=MeSH" title="MedGen record for Abnormal blood ion concentration">Abnormal blood ion concentration</a></span><ul><li><span class="TLline"><a href="/medgen/867643" ref="tree=MeSH" title="MedGen record for Abnormal blood phosphate concentration">Abnormal blood phosphate concentration</a></span><ul><li><span class="TLline"><a href="/medgen/39327" ref="tree=MeSH" title="MedGen record for Hypophosphatemia">Hypophosphatemia</a></span><ul><li><span class="TLline"><a href="/medgen/309957" ref="tree=MeSH" title="MedGen record for Hypophosphatemic rickets">Hypophosphatemic rickets</a></span><ul><li><span class="TLline"><a href="/medgen/980781" ref="tree=MeSH" title="MedGen record for Hereditary hypophosphatemic rickets">Hereditary hypophosphatemic rickets</a></span><ul><li><span class="matched_ds">Autosomal dominant hypophosphatemic rickets</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11912&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Autosomal dominant hypophosphatemic rickets</span> in Orphanet.</div></div></div>
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||
</div>
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|
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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/32995940">Iron deficiency plays essential roles in the trigger, treatment, and prognosis of autosomal dominant hypophosphatemic rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu C,
|
||
Li X,
|
||
Zhao Z,
|
||
Chi Y,
|
||
Cui L,
|
||
Zhang Q,
|
||
Ping F,
|
||
Chai X,
|
||
Jiang Y,
|
||
Wang O,
|
||
Li M,
|
||
Xing X,
|
||
Xia W</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2021 Apr;32(4):737-745.
|
||
Epub 2020 Sep 30
|
||
doi: 10.1007/s00198-020-05649-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32995940" target="_blank">32995940</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22autosomal%20dominant%20hypophosphatemic%20rickets%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34444516">Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mameli C,
|
||
Sangiorgio A,
|
||
Colombo V,
|
||
Gambino M,
|
||
Spaccini L,
|
||
Cattaneo E,
|
||
Zuccotti GV</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2021 Aug 19;18(16)
|
||
doi: 10.3390/ijerph18168771.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34444516" target="_blank">34444516</a><a href="/pmc/articles/PMC8392413" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26824597">Hypophosphatemic rickets and craniosynostosis: a multicenter case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vega RA,
|
||
Opalak C,
|
||
Harshbarger RJ,
|
||
Fearon JA,
|
||
Ritter AM,
|
||
Collins JJ,
|
||
Rhodes JL</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
|
||
2016 Jun;17(6):694-700.
|
||
Epub 2016 Jan 29
|
||
doi: 10.3171/2015.10.PEDS15273.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26824597" target="_blank">26824597</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25620749">Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldsweig BK,
|
||
Carpenter TO</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2015 Apr;13(2):88-97.
|
||
doi: 10.1007/s11914-015-0259-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25620749" target="_blank">25620749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24867675">Coupling fibroblast growth factor 23 production and cleavage: iron deficiency, rickets, and kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolf M,
|
||
White KE</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2014 Jul;23(4):411-9.
|
||
doi: 10.1097/01.mnh.0000447020.74593.6f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24867675" target="_blank">24867675</a><a href="/pmc/articles/PMC4322859" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16884396">Emerging role of a phosphatonin in mineral homeostasis and its derangements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bielesz B</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Invest</span>
|
||
2006 Aug;36 Suppl 2:34-42.
|
||
doi: 10.1111/j.1365-2362.2006.01659.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16884396" target="_blank">16884396</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20hypophosphatemic%20rickets%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38467164">Acquired Forms of Fibroblast Growth Factor 23-Related Hypophosphatemic Osteomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ito N,
|
||
Hidaka N,
|
||
Kato H</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab (Seoul)</span>
|
||
2024 Apr;39(2):255-261.
|
||
Epub 2024 Mar 11
|
||
doi: 10.3803/EnM.2023.1908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38467164" target="_blank">38467164</a><a href="/pmc/articles/PMC11066443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34444516">Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mameli C,
|
||
Sangiorgio A,
|
||
Colombo V,
|
||
Gambino M,
|
||
Spaccini L,
|
||
Cattaneo E,
|
||
Zuccotti GV</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2021 Aug 19;18(16)
|
||
doi: 10.3390/ijerph18168771.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34444516" target="_blank">34444516</a><a href="/pmc/articles/PMC8392413" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25620749">Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldsweig BK,
|
||
Carpenter TO</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2015 Apr;13(2):88-97.
|
||
doi: 10.1007/s11914-015-0259-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25620749" target="_blank">25620749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23989261">Hip fracture leading to the diagnosis of autosomal dominant hypophosphatemic rickets. A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tournis S,
|
||
Koromila T,
|
||
Chatzistamatas N,
|
||
Droggaris M,
|
||
Zafeiris C,
|
||
Makris K,
|
||
Marketou H,
|
||
Papaioannou N,
|
||
Kollia P,
|
||
Gazi S</span><br />
|
||
<span class="medgenPMjournal">J Musculoskelet Neuronal Interact</span>
|
||
2013 Sep;13(3):391-3; quiz 393-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23989261" target="_blank">23989261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23108197">Hypophosphatemic rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baroncelli GI,
|
||
Toschi B,
|
||
Bertelloni S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2012 Dec;19(6):460-7.
|
||
doi: 10.1097/MED.0b013e328358be97.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23108197" target="_blank">23108197</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20hypophosphatemic%20rickets%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 (20)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36210014">Phosphatonins: From Discovery to Therapeutics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kritmetapak K,
|
||
Kumar R</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2023 Jan;29(1):69-79.
|
||
Epub 2022 Oct 7
|
||
doi: 10.1016/j.eprac.2022.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36210014" target="_blank">36210014</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36446330">Rickets, Vitamin D, and Ca/P Metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller WL,
|
||
Imel EA</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2022;95(6):579-592.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1159/000527011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446330" target="_blank">36446330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32504139">New Therapies for Hypophosphatemia-Related to FGF23 Excess.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Athonvarangkul D,
|
||
Insogna KL</span><br />
|
||
<span class="medgenPMjournal">Calcif Tissue Int</span>
|
||
2021 Jan;108(1):143-157.
|
||
Epub 2020 Jun 5
|
||
doi: 10.1007/s00223-020-00705-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32504139" target="_blank">32504139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25620749">Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldsweig BK,
|
||
Carpenter TO</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2015 Apr;13(2):88-97.
|
||
doi: 10.1007/s11914-015-0259-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25620749" target="_blank">25620749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23108197">Hypophosphatemic rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baroncelli GI,
|
||
Toschi B,
|
||
Bertelloni S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2012 Dec;19(6):460-7.
|
||
doi: 10.1097/MED.0b013e328358be97.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23108197" target="_blank">23108197</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20hypophosphatemic%20rickets%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 (19)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32995940">Iron deficiency plays essential roles in the trigger, treatment, and prognosis of autosomal dominant hypophosphatemic rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu C,
|
||
Li X,
|
||
Zhao Z,
|
||
Chi Y,
|
||
Cui L,
|
||
Zhang Q,
|
||
Ping F,
|
||
Chai X,
|
||
Jiang Y,
|
||
Wang O,
|
||
Li M,
|
||
Xing X,
|
||
Xia W</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2021 Apr;32(4):737-745.
|
||
Epub 2020 Sep 30
|
||
doi: 10.1007/s00198-020-05649-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32995940" target="_blank">32995940</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31821448">Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cebeci AN,
|
||
Zou M,
|
||
BinEssa HA,
|
||
Alzahrani AS,
|
||
Al-Rijjal RA,
|
||
Al-Enezi AF,
|
||
Al-Mohanna FA,
|
||
Cavalier E,
|
||
Meyer BF,
|
||
Shi Y</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Jun 1;105(6)
|
||
doi: 10.1210/clinem/dgz260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31821448" target="_blank">31821448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26824597">Hypophosphatemic rickets and craniosynostosis: a multicenter case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vega RA,
|
||
Opalak C,
|
||
Harshbarger RJ,
|
||
Fearon JA,
|
||
Ritter AM,
|
||
Collins JJ,
|
||
Rhodes JL</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
|
||
2016 Jun;17(6):694-700.
|
||
Epub 2016 Jan 29
|
||
doi: 10.3171/2015.10.PEDS15273.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26824597" target="_blank">26824597</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24867675">Coupling fibroblast growth factor 23 production and cleavage: iron deficiency, rickets, and kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolf M,
|
||
White KE</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2014 Jul;23(4):411-9.
|
||
doi: 10.1097/01.mnh.0000447020.74593.6f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24867675" target="_blank">24867675</a><a href="/pmc/articles/PMC4322859" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23108197">Hypophosphatemic rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baroncelli GI,
|
||
Toschi B,
|
||
Bertelloni S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2012 Dec;19(6):460-7.
|
||
doi: 10.1097/MED.0b013e328358be97.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23108197" target="_blank">23108197</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20hypophosphatemic%20rickets%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/38988138">Hypophosphatemic rickets and short stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis K,
|
||
Imel EA,
|
||
Kelley J</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2024 Aug 5;39(7):821-825.
|
||
doi: 10.1093/jbmr/zjae103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38988138" target="_blank">38988138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36347435">Bone characteristics of autosomal dominant hypophosphatemic rickets patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu C,
|
||
Ni X,
|
||
Zhao Z,
|
||
Qi W,
|
||
Jiang Y,
|
||
Li M,
|
||
Wang O,
|
||
Xing X,
|
||
Xia W</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2023 Feb;167:116602.
|
||
Epub 2022 Nov 5
|
||
doi: 10.1016/j.bone.2022.116602.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36347435" target="_blank">36347435</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31486862">Earlier Onset in Autosomal Dominant Hypophosphatemic Rickets of R179 than R176 Mutations in Fibroblast Growth Factor 23: Report of 20 Chinese Cases and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu C,
|
||
Zhao Z,
|
||
Wang O,
|
||
Li M,
|
||
Xing X,
|
||
Hsieh E,
|
||
Fukumoto S,
|
||
Jiang Y,
|
||
Xia W</span><br />
|
||
<span class="medgenPMjournal">Calcif Tissue Int</span>
|
||
2019 Nov;105(5):476-486.
|
||
Epub 2019 Sep 5
|
||
doi: 10.1007/s00223-019-00597-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31486862" target="_blank">31486862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17697126">Aberrant fibroblast growth factor receptor signaling in bladder and other cancers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaffer CL,
|
||
Dopheide B,
|
||
Savagner P,
|
||
Thompson EW,
|
||
Williams ED</span><br />
|
||
<span class="medgenPMjournal">Differentiation</span>
|
||
2007 Nov;75(9):831-42.
|
||
Epub 2007 Aug 14
|
||
doi: 10.1111/j.1432-0436.2007.00210.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17697126" target="_blank">17697126</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14675031">The phosphatonin pathway: new insights in phosphate homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schiavi SC,
|
||
Kumar R</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2004 Jan;65(1):1-14.
|
||
doi: 10.1111/j.1523-1755.2004.00355.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14675031" target="_blank">14675031</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20hypophosphatemic%20rickets%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 (20)</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/33462793">The Effect of Iron Supplementation on FGF23 in Chronic Kidney Disease Patients: a Systematic Review and Time-Response Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abu-Zaid A,
|
||
Magzoub D,
|
||
Aldehami MA,
|
||
Behiry AA,
|
||
Bhagavathula AS,
|
||
Hajji R</span><br />
|
||
<span class="medgenPMjournal">Biol Trace Elem Res</span>
|
||
2021 Dec;199(12):4516-4524.
|
||
Epub 2021 Jan 18
|
||
doi: 10.1007/s12011-021-02598-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33462793" target="_blank">33462793</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20hypophosphatemic%20rickets%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
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|
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<div class=" bottom">
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|
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</div>
|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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||
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|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0342642%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
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<li><a href="/gtr/tests?term=C0342642%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342642%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342642%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342642%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0342642%5bDISCUI%5d" target="_blank">See all (39)</a></total></li>
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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=193100" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=89937" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autosomal%20dominant%20hypophosphatemic%20rickets" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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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=(%22autosomal%20dominant%20hypophosphatemic%20rickets%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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|
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<div class="portlet mgSection" id="ID_115">
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<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>
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<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=605380" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=8074[geneid]" target="_blank">View FGF23 variations in ClinVar</a></li><li><a href="/nuccore/160358364" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=193100" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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|
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|
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|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hypophosphatemic+rickets%2C+autosomal+dominant/8619" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hypophosphatemic_rickets_autosomal_dominant" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Autosomal%20dominant%20hypophosphatemic%20rickets" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hereditary-hypophosphatemic-rickets" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16781/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<h3>Reviews</h3>
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|
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|
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<li>
|
||
<a href="/pubmed/clinical?term=Autosomal%20dominant%20hypophosphatemic%20rickets" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
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|
||
<li>
|
||
<a href="/pubmed?term=Autosomal%20dominant%20hypophosphatemic%20rickets%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
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|
||
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||
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|
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|
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
|
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|
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=83346" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=83346" ref="log$=recordlinks">Gene</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0342642[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0342642[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0342642[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
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<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=83346" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=83346" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=83346" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=83346" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=83346" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=83346" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
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|
||
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|
||
|
||
|
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|
||
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<h3>Recent activity</h3>
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