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<meta name="keywords" content="C1704375, disease or syndrome, hypophosphatemia, vitamin d-resistant rickets, hypophosphatemic ricket, hypophosphatemic rickets, hypophosphatemic vitamin d resistant rickets, hypophosphatemic vitamin d-resistant rickets, phosphopenic rickets, phosphopenic type rickets, ricket, hypophosphatemic, rickets, hypophosphatemic, rickets, vitamin d resistant, rickets, vitamin d-resistant, vitamin d-resistant rickets, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=309957
|
||
ConceptID=C1704375
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypophosphatemic rickets</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hypophosphatemic Ricket; Hypophosphatemic Rickets; Ricket, Hypophosphatemic; Rickets, Hypophosphatemic</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Phosphopenic type rickets (66266003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/8074">FGF23</a>, <a target="_blank" href="/gene/5251">PHEX</a>, <a target="_blank" href="/gene/5167">ENPP1</a>, <a target="_blank" href="/gene/1758">DMP1</a>, <a target="_blank" href="/gene/1184">CLCN5</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0004912">HP:0004912</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0024300" target="_blank">MONDO:0024300</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
|
||
<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">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. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</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="matched_ds"><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">Hypophosphatemic rickets</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="TLclosed"><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"><a href="/medgen/83346" ref="tree=GTR&ncbi_uid=83346&link_uid=83346" title="View MedGen record for 'Autosomal dominant hypophosphatemic rickets'">Autosomal dominant hypophosphatemic 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=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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><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="matched_ds">Hypophosphatemic rickets</span><ul><li><span class="TLline"><a href="/medgen/501133" ref="tree=MeSH" title="MedGen record for Autosomal recessive hypophosphatemic bone disease">Autosomal recessive hypophosphatemic bone disease</a></span></li><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="TLline"><a href="/medgen/83346" ref="tree=MeSH" title="MedGen record for Autosomal dominant hypophosphatemic rickets">Autosomal dominant hypophosphatemic rickets</a></span></li><li><span class="TLline"><a href="/medgen/137975" ref="tree=MeSH" title="MedGen record for Autosomal recessive hypophosphatemic vitamin D refractory rickets">Autosomal recessive hypophosphatemic vitamin D refractory rickets</a></span></li><li><span class="TLline"><a href="/medgen/168056" ref="tree=MeSH" title="MedGen record for Dent disease">Dent disease</a></span><ul><li><span class="TLline"><a href="/medgen/336322" ref="tree=MeSH" title="MedGen record for Dent disease type 1">Dent disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/336867" ref="tree=MeSH" title="MedGen record for Dent disease type 2">Dent disease type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1680754" ref="tree=MeSH" title="MedGen record for Dominant hypophosphatemia with nephrolithiasis or osteoporosis">Dominant hypophosphatemia with nephrolithiasis or osteoporosis</a></span></li><li><span class="TLline"><a href="/medgen/196551" ref="tree=MeSH" title="MedGen record for Familial X-linked hypophosphatemic vitamin D refractory rickets">Familial X-linked hypophosphatemic vitamin D refractory rickets</a></span></li><li><span class="TLline"><a href="/medgen/1632314" ref="tree=MeSH" title="MedGen record for Hypophosphatemic rickets, autosomal recessive, 1">Hypophosphatemic rickets, autosomal recessive, 1</a></span></li><li><span class="TLline"><a href="/medgen/442380" ref="tree=MeSH" title="MedGen record for Hypophosphatemic rickets, autosomal recessive, 2">Hypophosphatemic rickets, autosomal recessive, 2</a></span></li><li><span class="TLline"><a href="/medgen/335115" ref="tree=MeSH" title="MedGen record for Hypophosphatemic rickets, X-linked recessive">Hypophosphatemic rickets, X-linked recessive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/760752" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets, type 2">Vitamin D-dependent rickets, type 2</a></span><ul><li><span class="TLline"><a href="/medgen/90989" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets type II with alopecia">Vitamin D-dependent rickets type II with alopecia</a></span></li><li><span class="TLline"><a href="/medgen/411667" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets, type 2B">Vitamin D-dependent rickets, type 2B</a></span></li></ul></li></ul></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=160&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hypophosphatemic rickets</span> in Orphanet.</div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_75688"><div><strong>Tyrosinemia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75688</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.">C0268490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75688">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_83346"><div><strong>Autosomal dominant hypophosphatemic rickets</strong><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.">C0342642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">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).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83346">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_196551"><div><strong>Familial X-linked hypophosphatemic vitamin D refractory rickets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196551</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.">C0733682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower extremity bowing and/or craniosynostosis, usually involving the sagittal suture with consequent scaphocephaly. XLH typically manifests in the first two years of life with lower extremity bowing due to the onset of weight-bearing; however, it sometimes does not manifest until adulthood, as previously unevaluated short stature. Adults may present with calcification of the tendons, ligaments, and joint capsules, joint pain, fatigue, insufficiency fractures, and impaired mobility. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported. Rarely, individuals with XLH can suffer from spinal stenosis, Chiari I malformation, syringomyelia, and/or raised intracranial pressure.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/196551">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_335115"><div><strong>Hypophosphatemic rickets, X-linked recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335115</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.">C1845168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked recessive hypophosphatemic rickets (XLHRR) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/335115">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_501133"><div><strong>Autosomal recessive hypophosphatemic bone disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501133</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.">C1853271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/501133">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_383131"><div><strong>Hypophosphatemic rickets and hyperparathyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383131</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.">C2677524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/383131">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_442380"><div><strong>Hypophosphatemic rickets, autosomal recessive, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442380</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.">C2750078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">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.\n\nAnother 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).\n\nOther 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.\n\nIn 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.\n\nHereditary 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.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/442380">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_419735"><div><strong>Nephropathic cystinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419735</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.">C2931187</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/419735">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_477791"><div><strong>Arterial calcification, generalized, of infancy, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477791</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.">C3276161</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure, respiratory distress, edema, cyanosis, hypertension, and/or cardiomegaly). Additional findings can include typical skin and retinal manifestations of pseudoxanthoma elasticum (PXE), periarticular calcifications, development of rickets after infancy, cervical spine fusion, and hearing loss. While mortality in infancy is high, survival into the third and fourth decades has occurred.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/477791">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1632314"><div><strong>Hypophosphatemic rickets, autosomal recessive, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632314</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.">C4551495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">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.\n\nIn 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.\n\nOther 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.\n\nAnother 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).\n\nResearchers 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.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1632314">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1631685"><div><strong>Arterial calcification, generalized, of infancy, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631685</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.">C4551985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure, respiratory distress, edema, cyanosis, hypertension, and/or cardiomegaly). Additional findings can include typical skin and retinal manifestations of pseudoxanthoma elasticum (PXE), periarticular calcifications, development of rickets after infancy, cervical spine fusion, and hearing loss. While mortality in infancy is high, survival into the third and fourth decades has occurred.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1631685">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1646345"><div><strong>Linear nevus sebaceous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646345</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.">C4552097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1646345">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1711127"><div><strong>Fanconi renotubular syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1711127</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.">C5394473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent (Crocker et al., 1997 and Hartmannova et al., 2016). For a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1711127">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1806598"><div><strong>Combined oxidative phosphorylation deficiency 55</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1806598</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.">C5676915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-55 (COXPD55) is characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia phenotype has been described in 1 patient (summary by Olahova et al., 2021). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1806598">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631685" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arterial calcification, generalized, of infancy, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arterial calcification, generalized, of infancy, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant hypophosphatemic rickets</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive hypophosphatemic bone disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1806598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 55</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_196551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial X-linked hypophosphatemic vitamin D refractory rickets</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1711127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383131" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic rickets and hyperparathyroidism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic rickets, autosomal recessive, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic rickets, autosomal recessive, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic rickets, X-linked recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear nevus sebaceous syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephropathic cystinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinemia type I</a></div></span></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/35352187">Rickets guidance: part II-management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Leifheit-Nestler M,
|
||
Grund A,
|
||
Schnabel D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2022 Oct;37(10):2289-2302.
|
||
Epub 2022 Mar 29
|
||
doi: 10.1007/s00467-022-05505-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35352187" target="_blank">35352187</a><a href="/pmc/articles/PMC9395459" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33815294">Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laurent MR,
|
||
De Schepper J,
|
||
Trouet D,
|
||
Godefroid N,
|
||
Boros E,
|
||
Heinrichs C,
|
||
Bravenboer B,
|
||
Velkeniers B,
|
||
Lammens J,
|
||
Harvengt P,
|
||
Cavalier E,
|
||
Kaux JF,
|
||
Lombet J,
|
||
De Waele K,
|
||
Verroken C,
|
||
van Hoeck K,
|
||
Mortier GR,
|
||
Levtchenko E,
|
||
Vande Walle J</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:641543.
|
||
Epub 2021 Mar 19
|
||
doi: 10.3389/fendo.2021.641543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33815294" target="_blank">33815294</a><a href="/pmc/articles/PMC8018577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33295878">FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukumoto S</span><br />
|
||
<span class="medgenPMjournal">J Mol Endocrinol</span>
|
||
2021 Feb;66(2):R57-R65.
|
||
doi: 10.1530/JME-20-0089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33295878" target="_blank">33295878</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypophosphatemic%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 (65)</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/39575071">Metabolic Bone Disease: An Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gooch C,
|
||
Ekert P,
|
||
Gottesman GS</span><br />
|
||
<span class="medgenPMjournal">Mo Med</span>
|
||
2024 Jul-Aug;121(4):297-303.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39575071" target="_blank">39575071</a><a href="/pmc/articles/PMC11578561" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38087658">The pathophysiology of hypophosphatemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ito N,
|
||
Hidaka N,
|
||
Kato H</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2024 Mar;38(2):101851.
|
||
Epub 2023 Nov 30
|
||
doi: 10.1016/j.beem.2023.101851.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38087658" target="_blank">38087658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33815294">Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laurent MR,
|
||
De Schepper J,
|
||
Trouet D,
|
||
Godefroid N,
|
||
Boros E,
|
||
Heinrichs C,
|
||
Bravenboer B,
|
||
Velkeniers B,
|
||
Lammens J,
|
||
Harvengt P,
|
||
Cavalier E,
|
||
Kaux JF,
|
||
Lombet J,
|
||
De Waele K,
|
||
Verroken C,
|
||
van Hoeck K,
|
||
Mortier GR,
|
||
Levtchenko E,
|
||
Vande Walle J</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:641543.
|
||
Epub 2021 Mar 19
|
||
doi: 10.3389/fendo.2021.641543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33815294" target="_blank">33815294</a><a href="/pmc/articles/PMC8018577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30454743">Hypophosphatemic Rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bitzan M,
|
||
Goodyer PR</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2019 Feb;66(1):179-207.
|
||
doi: 10.1016/j.pcl.2018.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30454743" target="_blank">30454743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21538511">A clinician's guide to X-linked hypophosphatemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carpenter TO,
|
||
Imel EA,
|
||
Holm IA,
|
||
Jan de Beur SM,
|
||
Insogna KL</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2011 Jul;26(7):1381-8.
|
||
Epub 2011 May 2
|
||
doi: 10.1002/jbmr.340.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21538511" target="_blank">21538511</a><a href="/pmc/articles/PMC3157040" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypophosphatemic%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 (358)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/40042024">X-linked hypophosphataemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
|
||
Akdeniz C,
|
||
Heck A,
|
||
Bjørk MB,
|
||
Theisen OR,
|
||
Eggesbø HB,
|
||
Krüger TB,
|
||
Reseland JE,
|
||
Pihlstrøm HK,
|
||
Åsvold BO,
|
||
Grimnes G,
|
||
Grytaas MA,
|
||
Rafaelsen SH,
|
||
Thorsby PM,
|
||
Wekre LL,
|
||
Finnes TE</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2025 Mar 4;145(3)
|
||
Epub 2025 Feb 26
|
||
doi: 10.4045/tidsskr.24.0476.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40042024" target="_blank">40042024</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35981346">Approach to Hypophosphatemic Rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ackah SA,
|
||
Imel EA</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Dec 17;108(1):209-220.
|
||
doi: 10.1210/clinem/dgac488.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35981346" target="_blank">35981346</a><a href="/pmc/articles/PMC9759174" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33295878">FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukumoto S</span><br />
|
||
<span class="medgenPMjournal">J Mol Endocrinol</span>
|
||
2021 Feb;66(2):R57-R65.
|
||
doi: 10.1530/JME-20-0089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33295878" target="_blank">33295878</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31068690">Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Emma F,
|
||
Eastwood DM,
|
||
Biosse Duplan M,
|
||
Bacchetta J,
|
||
Schnabel D,
|
||
Wicart P,
|
||
Bockenhauer D,
|
||
Santos F,
|
||
Levtchenko E,
|
||
Harvengt P,
|
||
Kirchhoff M,
|
||
Di Rocco F,
|
||
Chaussain C,
|
||
Brandi ML,
|
||
Savendahl L,
|
||
Briot K,
|
||
Kamenicky P,
|
||
Rejnmark L,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2019 Jul;15(7):435-455.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/21538511">A clinician's guide to X-linked hypophosphatemia.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypophosphatemic%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 (475)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35533340">Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ward LM,
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Glorieux FH,
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Whyte MP,
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Munns CF,
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Portale AA,
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Högler W,
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Simmons JH,
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Gottesman GS,
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Padidela R,
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Namba N,
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<div class="nl"><a target="_blank" href="/pubmed/34636899">Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia.</a></div>
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Imel EA,
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Whyte MP,
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Portale AA,
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Högler W,
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Boot AM,
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Padidela R,
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Van't Hoff W,
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Gottesman GS,
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Skrinar A,
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<span class="bold">PMID: </span><a href="/pubmed/34636899" target="_blank">34636899</a><a href="/pmc/articles/PMC8851952" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31104833">Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Imel EA,
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Glorieux FH,
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Whyte MP,
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Munns CF,
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Ward LM,
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Nilsson O,
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Simmons JH,
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Namba N,
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Cheong HI,
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<div class="nl"><a target="_blank" href="/pubmed/15015068">The enigma of hyperparathyroidism in hypophosphatemic rickets.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schmitt CP,
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<div class="nl"><a target="_blank" href="/pubmed/13413694">Vitamin D resistant rickets.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">LITMAN NN,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypophosphatemic%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 (322)</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/39008126">Burosumab Efficacy and Safety in Patients with X-Linked Hypophosphatemia: Systematic Review and Meta-analysis of Real-World Data.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kiafzezi D,
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Stamati A,
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Karagiannis T,
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Goulis DG,
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Christoforidis A</span><br />
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<span class="medgenPMjournal">Calcif Tissue Int</span>
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2024 Sep;115(3):229-241.
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||
Epub 2024 Jul 15
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||
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||
<span class="bold">PMID: </span><a href="/pubmed/39008126" target="_blank">39008126</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37497620">Efficacy and Safety of Burosumab in X-linked Hypophosphatemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang S,
|
||
Wang X,
|
||
He M,
|
||
Li Y,
|
||
Xiao M,
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||
Ma H</span><br />
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
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2023 Dec 21;109(1):293-302.
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||
doi: 10.1210/clinem/dgad440.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37497620" target="_blank">37497620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34618915">Recombinant growth hormone therapy for X-linked hypophosphatemia in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith S,
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Remmington T</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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<span class="bold">PMID: </span><a href="/pubmed/34618915" target="_blank">34618915</a><a href="/pmc/articles/PMC8496964" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34492747">Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dodamani MH,
|
||
Sehemby M,
|
||
Memon SS,
|
||
Sarathi V,
|
||
Lila AR,
|
||
Chapla A,
|
||
Bhandare VV,
|
||
Patil VA,
|
||
Shah NS,
|
||
Thomas N,
|
||
Kunwar A,
|
||
Bandgar TR</span><br />
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||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 Dec 20;34(12):1505-1513.
|
||
Epub 2021 Sep 8
|
||
doi: 10.1515/jpem-2021-0403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34492747" target="_blank">34492747</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32645757">Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litaiem N,
|
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Chabchoub I,
|
||
Bacha T,
|
||
Slouma M,
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Zeglaoui F,
|
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Khachemoune A</span><br />
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<span class="medgenPMjournal">Photodermatol Photoimmunol Photomed</span>
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||
2020 Sep;36(5):339-350.
|
||
Epub 2020 Jul 24
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||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/32645757" target="_blank">32645757</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypophosphatemic%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 (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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|
||
<div class=" bottom">
|
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|
||
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|
||
|
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</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
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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_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=C1704375%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C1704375%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1704375%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Hypophosphatemic%20rickets" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22hypophosphatemic%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hypophosphatemic%20rickets%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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