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<meta name="keywords" content="C1845168, clcn5, clcn5 x-linked hypophosphatemic rickets, disease or syndrome, hypophosphatemic rickets, x linked recessive, hypophosphatemic rickets, x-linked recessive, rickets, hypophosphataemic, x-linked hypophosphatemic rickets caused by mutation in clcn5, xlhrr, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=335115
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ConceptID=C1845168
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypophosphatemic rickets, X-linked recessive<span class="h1sub">(XLHRR)</span></div></h1><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."><span class="highlight" style="background-color:">C1845168</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>Rickets, hypophosphataemic; XLHRR</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="CLCN5 - ID: 1184 - NCBI Gene" href="/gene/1184" class="medgenPMinfo">CLCN5</a> (Xp11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010358" target="_blank">MONDO:0010358</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300554" target="_blank">300554</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">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. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<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_43775"><div><strong>Hypercalciuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43775</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.">C0020438</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally high level of calcium in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43775">Feature record</a> | <a href="/medgen?term=%22Hypercalciuria%22%5BClinical%20Features%5D%20OR%2043775%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10222"><div><strong>Nephrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10222</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.">C0027709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10222">Feature record</a> | <a href="/medgen?term=%22Nephrocalcinosis%22%5BClinical%20Features%5D%20OR%2010222%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98227"><div><strong>Nephrolithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98227</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0392525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of calculi (stones) in the kidneys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98227">Feature record</a> | <a href="/medgen?term=%22Nephrolithiasis%22%5BClinical%20Features%5D%20OR%2098227%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_473458"><div><strong>Chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473458</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.">C1561643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Functional anomaly of the kidney persisting for at least three months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473458">Feature record</a> | <a href="/medgen?term=%22Chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20473458%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</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.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326534"><div><strong>Proximal tubulopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326534</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.">C1839603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326534">Feature record</a> | <a href="/medgen?term=%22Proximal%20tubulopathy%22%5BClinical%20Features%5D%20OR%20326534%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333360"><div><strong>Low-molecular-weight proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333360</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.">C1839606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333360">Feature record</a> | <a href="/medgen?term=%22Low-molecular-weight%20proteinuria%22%5BClinical%20Features%5D%20OR%20333360%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_332360"><div><strong>Tibial bowing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332360</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.">C1837081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bending or abnormal curvature of the tibia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332360">Feature record</a> | <a href="/medgen?term=%22Tibial%20bowing%22%5BClinical%20Features%5D%20OR%20332360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_325479"><div><strong>Enlargement of the wrists</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325479</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.">C1838663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325479">Feature record</a> | <a href="/medgen?term=%22Enlargement%20of%20the%20wrists%22%5BClinical%20Features%5D%20OR%20325479%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333151"><div><strong>Enlargement of the ankles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333151</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.">C1838664</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333151">Feature record</a> | <a href="/medgen?term=%22Enlargement%20of%20the%20ankles%22%5BClinical%20Features%5D%20OR%20333151%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869374"><div><strong>Fibular bowing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869374</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.">C4023801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bending or abnormal curvature of the fibula.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869374">Feature record</a> | <a href="/medgen?term=%22Fibular%20bowing%22%5BClinical%20Features%5D%20OR%20869374%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_42094"><div><strong>Recurrent fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42094</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.">C0016655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Recurrent%20fractures%22%5BClinical%20Features%5D%20OR%2042094%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_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_371538"><div><strong>Sparse bone trabeculae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371538</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.">C1833324</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371538">Feature record</a> | <a href="/medgen?term=%22Sparse%20bone%20trabeculae%22%5BClinical%20Features%5D%20OR%20371538%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_318844"><div><strong>Thin bony cortex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318844</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.">C1833325</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal thinning of the cortical region of bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318844">Feature record</a> | <a href="/medgen?term=%22Thin%20bony%20cortex%22%5BClinical%20Features%5D%20OR%20318844%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_371540"><div><strong>Bulging epiphyses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371540</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.">C1833329</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371540">Feature record</a> | <a href="/medgen?term=%22Bulging%20epiphyses%22%5BClinical%20Features%5D%20OR%20371540%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_325478"><div><strong>Metaphyseal irregularity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325478</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.">C1838662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Irregularity of the normally smooth surface of the metaphyses.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325478">Feature record</a> | <a href="/medgen?term=%22Metaphyseal%20irregularity%22%5BClinical%20Features%5D%20OR%20325478%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347888"><div><strong>Femoral bowing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347888</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.">C1859461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bowing (abnormal curvature) of the femur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347888">Feature record</a> | <a href="/medgen?term=%22Femoral%20bowing%22%5BClinical%20Features%5D%20OR%20347888%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351324"><div><strong>Delayed epiphyseal ossification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351324</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.">C1865200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351324">Feature record</a> | <a href="/medgen?term=%22Delayed%20epiphyseal%20ossification%22%5BClinical%20Features%5D%20OR%20351324%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1807399"><div><strong>Bowing of the legs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1807399</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.">C5574706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bending or abnormal curvature affecting a long bone of the leg.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1807399">Feature record</a> | <a href="/medgen?term=%22Bowing%20of%20the%20legs%22%5BClinical%20Features%5D%20OR%201807399%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_1619023"><div><strong>High serum calcitriol</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619023</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.">C4531136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1619023">Feature record</a> | <a href="/medgen?term=%22High%20serum%20calcitriol%22%5BClinical%20Features%5D%20OR%201619023%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlargement of the ankles</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_325479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlargement of the wrists</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869374" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibular bowing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tibial bowing</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_1619023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High serum calcitriol</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_473458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic kidney disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercalciuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-molecular-weight proteinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrocalcinosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal tubulopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</a></span></li><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_1807399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bowing of the legs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_371540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bulging epiphyses</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed epiphyseal ossification</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Femoral bowing</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_325478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal irregularity</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_42094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fractures</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_371538" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse bone trabeculae</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_318844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin bony cortex</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></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="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="matched_ds"><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">Hypophosphatemic rickets, X-linked recessive</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">Hypophosphatemic rickets, X-linked recessive</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35896139">Burosumab Treatment for Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bai X,
|
||
Levental M,
|
||
Karaplis AC</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Sep 28;107(10):2777-2783.
|
||
doi: 10.1210/clinem/dgac433.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35896139" target="_blank">35896139</a><a href="/pmc/articles/PMC9516063" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35600579">Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortin CA,
|
||
Girard L,
|
||
Bonenfant C,
|
||
Leblanc J,
|
||
Cruz-Marino T,
|
||
Blackburn ME,
|
||
Desmeules M,
|
||
Bouchard L</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:887371.
|
||
Epub 2022 May 6
|
||
doi: 10.3389/fendo.2022.887371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35600579" target="_blank">35600579</a><a href="/pmc/articles/PMC9120640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32172442">Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boyce AM,
|
||
Gafni RI,
|
||
Ferreira CR</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2020 Jun;18(3):232-241.
|
||
doi: 10.1007/s11914-020-00577-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32172442" target="_blank">32172442</a><a href="/pmc/articles/PMC9506683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypophosphatemic%20rickets%2C%20x-linked%20recessive)%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 (8)</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/38324408">Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dursun F,
|
||
Turan İ,
|
||
Bitkin EÇ,
|
||
Bayramoğlu E,
|
||
Çayır A,
|
||
Erdeve ŞS,
|
||
Çakır EDP,
|
||
Çamtosun E,
|
||
Dilek SO,
|
||
Kırmızıbekmez H,
|
||
Eser M,
|
||
Türkyılmaz A,
|
||
Karagüzel G</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2024 Nov;101(5):475-484.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1111/cen.15028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38324408" target="_blank">38324408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34355424">Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira CR,
|
||
Kintzinger K,
|
||
Hackbarth ME,
|
||
Botschen U,
|
||
Nitschke Y,
|
||
Mughal MZ,
|
||
Baujat G,
|
||
Schnabel D,
|
||
Yuen E,
|
||
Gahl WA,
|
||
Gafni RI,
|
||
Liu Q,
|
||
Huertas P,
|
||
Khursigara G,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2021 Nov;36(11):2193-2202.
|
||
Epub 2021 Aug 16
|
||
doi: 10.1002/jbmr.4418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34355424" target="_blank">34355424</a><a href="/pmc/articles/PMC8595532" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34292571">Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tavana N,
|
||
Thilakavathy K,
|
||
Kennerson ML,
|
||
Ting TH</span><br />
|
||
<span class="medgenPMjournal">Endokrynol Pol</span>
|
||
2021;72(4):366-394.
|
||
Epub 2021 Jul 22
|
||
doi: 10.5603/EP.a2021.0062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34292571" target="_blank">34292571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32172442">Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boyce AM,
|
||
Gafni RI,
|
||
Ferreira CR</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2020 Jun;18(3):232-241.
|
||
doi: 10.1007/s11914-020-00577-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32172442" target="_blank">32172442</a><a href="/pmc/articles/PMC9506683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30109410">Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergwitz C,
|
||
Miyamoto KI</span><br />
|
||
<span class="medgenPMjournal">Pflugers Arch</span>
|
||
2019 Jan;471(1):149-163.
|
||
Epub 2018 Aug 14
|
||
doi: 10.1007/s00424-018-2184-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30109410" target="_blank">30109410</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypophosphatemic%20rickets%2C%20X-linked%20recessive%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38044258">Inherited fibroblast growth factor 23 excess.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cherian KE,
|
||
Paul TV</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2024 Mar;38(2):101844.
|
||
Epub 2023 Nov 28
|
||
doi: 10.1016/j.beem.2023.101844.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38044258" target="_blank">38044258</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34355424">Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira CR,
|
||
Kintzinger K,
|
||
Hackbarth ME,
|
||
Botschen U,
|
||
Nitschke Y,
|
||
Mughal MZ,
|
||
Baujat G,
|
||
Schnabel D,
|
||
Yuen E,
|
||
Gahl WA,
|
||
Gafni RI,
|
||
Liu Q,
|
||
Huertas P,
|
||
Khursigara G,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2021 Nov;36(11):2193-2202.
|
||
Epub 2021 Aug 16
|
||
doi: 10.1002/jbmr.4418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34355424" target="_blank">34355424</a><a href="/pmc/articles/PMC8595532" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32621683">Congenital atrichia with papular lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hajare SA,
|
||
Gavali S,
|
||
Mukhi J,
|
||
Singh RP</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2020 Apr 15;26(4)
|
||
<span class="bold">PMID: </span><a href="/pubmed/32621683" target="_blank">32621683</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30109410">Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergwitz C,
|
||
Miyamoto KI</span><br />
|
||
<span class="medgenPMjournal">Pflugers Arch</span>
|
||
2019 Jan;471(1):149-163.
|
||
Epub 2018 Aug 14
|
||
doi: 10.1007/s00424-018-2184-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30109410" target="_blank">30109410</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=%22Hypophosphatemic%20rickets%2C%20X-linked%20recessive%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 (50)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38308754">The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parolin M,
|
||
Partigiani NB,
|
||
Benetti E,
|
||
Longo G,
|
||
Vidal E</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2024 Jun;37(5):1371-1374.
|
||
Epub 2024 Feb 3
|
||
doi: 10.1007/s40620-023-01884-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38308754" target="_blank">38308754</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38044258">Inherited fibroblast growth factor 23 excess.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cherian KE,
|
||
Paul TV</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2024 Mar;38(2):101844.
|
||
Epub 2023 Nov 28
|
||
doi: 10.1016/j.beem.2023.101844.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38044258" target="_blank">38044258</a></div>
|
||
|
||
<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/30109410">Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergwitz C,
|
||
Miyamoto KI</span><br />
|
||
<span class="medgenPMjournal">Pflugers Arch</span>
|
||
2019 Jan;471(1):149-163.
|
||
Epub 2018 Aug 14
|
||
doi: 10.1007/s00424-018-2184-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30109410" target="_blank">30109410</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=%22Hypophosphatemic%20rickets%2C%20X-linked%20recessive%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 (32)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38355430">Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang L,
|
||
Kulaixi G,
|
||
Zaiyinati J,
|
||
Aibai G,
|
||
Du D,
|
||
Guo Y</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2024 Feb 14;24(1):121.
|
||
doi: 10.1186/s12887-024-04589-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38355430" target="_blank">38355430</a><a href="/pmc/articles/PMC10865686" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34355424">Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira CR,
|
||
Kintzinger K,
|
||
Hackbarth ME,
|
||
Botschen U,
|
||
Nitschke Y,
|
||
Mughal MZ,
|
||
Baujat G,
|
||
Schnabel D,
|
||
Yuen E,
|
||
Gahl WA,
|
||
Gafni RI,
|
||
Liu Q,
|
||
Huertas P,
|
||
Khursigara G,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2021 Nov;36(11):2193-2202.
|
||
Epub 2021 Aug 16
|
||
doi: 10.1002/jbmr.4418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34355424" target="_blank">34355424</a><a href="/pmc/articles/PMC8595532" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33004071">Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Yuan X,
|
||
Chen R,
|
||
Lin X,
|
||
Shangguan H,
|
||
Yang X,
|
||
Zhang Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Oct 1;15(1):273.
|
||
doi: 10.1186/s13023-020-01558-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33004071" target="_blank">33004071</a><a href="/pmc/articles/PMC7528464" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25006751">Hereditary vitamin D rickets: a case series in a family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Surender K,
|
||
Kochar IP,
|
||
Ahmad A,
|
||
Kapoor M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2014 Nov;27(11-12):1217-22.
|
||
doi: 10.1515/jpem-2013-0448.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25006751" target="_blank">25006751</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=%22Hypophosphatemic%20rickets%2C%20X-linked%20recessive%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 (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38355430">Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang L,
|
||
Kulaixi G,
|
||
Zaiyinati J,
|
||
Aibai G,
|
||
Du D,
|
||
Guo Y</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2024 Feb 14;24(1):121.
|
||
doi: 10.1186/s12887-024-04589-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38355430" target="_blank">38355430</a><a href="/pmc/articles/PMC10865686" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35340077">Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kato H,
|
||
Ansh AJ,
|
||
Lester ER,
|
||
Kinoshita Y,
|
||
Hidaka N,
|
||
Hoshino Y,
|
||
Koga M,
|
||
Taniguchi Y,
|
||
Uchida T,
|
||
Yamaguchi H,
|
||
Niida Y,
|
||
Nakazato M,
|
||
Nangaku M,
|
||
Makita N,
|
||
Takamura T,
|
||
Saito T,
|
||
Braddock DT,
|
||
Ito N</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2022 Jun;37(6):1125-1135.
|
||
Epub 2022 Apr 11
|
||
doi: 10.1002/jbmr.4550.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35340077" target="_blank">35340077</a><a href="/pmc/articles/PMC9177665" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33900645">INZ-701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1-Deficient Mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng Z,
|
||
O'Brien K,
|
||
Howe J,
|
||
Sullivan C,
|
||
Schrier D,
|
||
Lynch A,
|
||
Jungles S,
|
||
Sabbagh Y,
|
||
Thompson D</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2021 Aug;36(8):1594-1604.
|
||
Epub 2021 May 5
|
||
doi: 10.1002/jbmr.4315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33900645" target="_blank">33900645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32920683">Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ni X,
|
||
Li X,
|
||
Zhang Q,
|
||
Liu C,
|
||
Gong Y,
|
||
Wang O,
|
||
Li M,
|
||
Xing X,
|
||
Jiang Y,
|
||
Xia W</span><br />
|
||
<span class="medgenPMjournal">Calcif Tissue Int</span>
|
||
2020 Dec;107(6):636-648.
|
||
Epub 2020 Sep 12
|
||
doi: 10.1007/s00223-020-00755-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32920683" target="_blank">32920683</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30109410">Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergwitz C,
|
||
Miyamoto KI</span><br />
|
||
<span class="medgenPMjournal">Pflugers Arch</span>
|
||
2019 Jan;471(1):149-163.
|
||
Epub 2018 Aug 14
|
||
doi: 10.1007/s00424-018-2184-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30109410" target="_blank">30109410</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypophosphatemic%20rickets%2C%20X-linked%20recessive%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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|
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|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1845168%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (24)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845168%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845168%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845168%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1845168%5bDISCUI%5d" target="_blank">See all (33)</a></total></li>
|
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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=(hypophosphatemic%20rickets%2C%20x-linked%20recessive)%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%2C%20X-linked%20recessive%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc3cfab15b832ebc554914">Hypophosphatemic rickets, X-linked recessive</a>
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