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<meta name="keywords" content="C0035579, active rickets, disease or syndrome, hypovitaminosis d, nutritional rickets, rachitides, rachitis, rickets, rickets (disease), vitamin d deficiency disease, vitamin d hydroxylation-deficient rickets, vitamin-d deficiency rickets, weak and soft bones, 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 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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=48470
|
||
ConceptID=C0035579
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Rickets</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hypovitaminosis D; Nutritional rickets; Vitamin D deficiency disease; Vitamin-D deficiency rickets</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Rickets (41345002)</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:0002748">HP:0002748</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005520" target="_blank">MONDO:0005520</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">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. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><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">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/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="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/1703500" ref="tree=MeSH" title="MedGen record for Abnormal metabolism">Abnormal metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/867647" ref="tree=MeSH" title="MedGen record for Abnormality of vitamin metabolism">Abnormality of vitamin metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/867646" ref="tree=MeSH" title="MedGen record for Abnormality of vitamin D metabolism">Abnormality of vitamin D metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/12114" ref="tree=MeSH" title="MedGen record for Decreased circulating vitamin D concentration">Decreased circulating vitamin D concentration</a></span><ul><li><span class="matched_ds">Rickets</span><ul><li><span class="TLline"><a href="/medgen/476088" ref="tree=MeSH" title="MedGen record for Acquired Rickets">Acquired Rickets</a></span></li><li><span class="TLline"><a href="/medgen/854493" ref="tree=MeSH" title="MedGen record for Adult Rickets">Adult Rickets</a></span></li><li><span class="TLline"><a href="/medgen/1384003" ref="tree=MeSH" title="MedGen record for Calcium Deficiency Rickets">Calcium Deficiency Rickets</a></span><ul><li><span class="TLline"><a href="/medgen/1388842" ref="tree=MeSH" title="MedGen record for Nutritional Calcium Deficient Rickets">Nutritional Calcium Deficient Rickets</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/474722" ref="tree=MeSH" title="MedGen record for Childhood Rickets">Childhood Rickets</a></span><ul><li><span class="TLline"><a href="/medgen/473169" ref="tree=MeSH" title="MedGen record for Metabolic bone disease of prematurity">Metabolic bone disease of prematurity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/885556" ref="tree=MeSH" title="MedGen record for Chronic kidney disease mineral and bone disorder">Chronic kidney disease mineral and bone disorder</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/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/927864" ref="tree=MeSH" title="MedGen record for Hypocalcemic rickets">Hypocalcemic rickets</a></span><ul><li><span class="TLline"><a href="/medgen/124344" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets, type 1">Vitamin D-dependent rickets, type 1</a></span></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><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/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/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/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></ul></li><li><span class="TLline"><a href="/medgen/1385792" ref="tree=MeSH" title="MedGen record for Nutritional Rickets">Nutritional Rickets</a></span><ul><li><span class="TLline"><a href="/medgen/1376736" ref="tree=MeSH" title="MedGen record for Nutritional Hypophosphatemic Rickets">Nutritional Hypophosphatemic Rickets</a></span></li><li><span class="TLline"><a href="/medgen/1389570" ref="tree=MeSH" title="MedGen record for Nutritional Vitamin D Deficiency Rickets">Nutritional Vitamin D Deficiency Rickets</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1378008" ref="tree=MeSH" title="MedGen record for Vitamin D Dependent Rickets 2">Vitamin D Dependent Rickets 2</a></span></li><li><span class="TLline"><a href="/medgen/526251" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets">Vitamin D-dependent rickets</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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_18145"><div><strong>Lowe syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18145</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.">C0028860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/18145">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120636"><div><strong>Adult hypophosphatasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120636</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.">C0268413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): Characterized by pulmonary insufficiency and hypercalcemia Perinatal (benign): Prenatal skeletal manifestations that slowly resolve into one of the milder forms Infantile: Onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity Severe childhood (juvenile): Variable presenting features progressing to rickets Mild childhood: Low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots Adult: Characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition Odontohypophosphatasia: Characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120636">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_82804"><div><strong>Proximal renal tubular acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82804</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.">C0268435</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82804">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120640"><div><strong>Primary hypomagnesemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120640</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.">C0268448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120640">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75701"><div><strong>Juvenile nephropathic cystinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75701</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.">C0268626</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</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/75701">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_124344"><div><strong>Vitamin D-dependent rickets, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124344</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.">C0268689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.\n\nThe signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.\n\nHair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.\n\nIn vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/124344">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_90989"><div><strong>Vitamin D-dependent rickets type II with alopecia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90989</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.">C0342646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets. VDDR2B (600785) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/90989">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_374020"><div><strong>Vitamin D hydroxylation-deficient rickets, type 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374020</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.">C1838657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vitamin D hydroxylation-deficient rickets type 1B (VDDR1B) is caused by a defect in vitamin D 25-hydroxylation (Molin et al., 2017). The major function of vitamin D is to maintain calcium and phosphate levels in the normal range to support metabolic functions, neuromuscular transmission, and bone mineralization. Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (summary by Liberman and Marx, 2001). Rickets can occur because of inadequate dietary intake or sun exposure or because of genetic disorders. Vitamin D3 (cholecalciferol) is taken in the diet or synthesized in the skin from 7-dehydrocholesterol by ultraviolet irradiation. For vitamin D to be active, it needs to be converted to its active form, 1,25-dihydroxyvitamin D3. Vitamin D is transported in the blood by the vitamin D binding protein (DBP; 139200) to the liver, where vitamin D 25-hydroxylase (CYP2R1; 608713) is the key enzyme for 25-hydroxylation. Vitamin D 25(OH)D3, the major circulating form of vitamin D, is then transported to the kidney, where 25(OH)D3 is hydroxylated at the position of carbon 1 of the A ring, resulting in the active form of vitamin D, 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) (summary by Christakos et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374020">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333534"><div><strong>Hypophosphatemic bone disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333534</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.">C1840321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333534">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335883"><div><strong>Congenital bile acid synthesis defect 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335883</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.">C1843116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335883">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335115">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336322"><div><strong>Dent disease type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336322</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.">C1848336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376565"><div><strong>Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376565</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.">C1849333</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (RCDFRD) is characterized by onset of hearing impairment and reduced vision within the first 5 years of life. Renal dysfunction results in rickets-like skeletal changes, and death may occur in childhood or young adulthood due to renal failure (Beighton et al., 1993).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376565">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336601"><div><strong>Renal tubular acidosis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336601</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.">C1849435</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336601">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501133">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395227"><div><strong>Celiac disease, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395227</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.">C1859310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395227">Condition Record</a></div></div>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383131">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411667"><div><strong>Vitamin D-dependent rickets, type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411667</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.">C2748783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. Vitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; 601769), and most patients have alopecia in addition to rickets. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411667">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419735">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462002"><div><strong>Fanconi renotubular syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462002</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.">C3150652</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462002">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463309"><div><strong>Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463309</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.">C3151959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463309">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501176"><div><strong>Fanconi-Bickel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501176</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.">C3495427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501176">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816430"><div><strong>Fanconi renotubular syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816430</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.">C3810100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by Klootwijk et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816430">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863399"><div><strong>Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863399</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.">C4014962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863399">Condition Record</a></div></div>
|
||
<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>
|
||
<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\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.\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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632314">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1635492"><div><strong>Fanconi renotubular syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635492</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.">C4551503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635492">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645830"><div><strong>Progressive familial intrahepatic cholestasis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645830</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.">C4551898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645830">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1732975"><div><strong>Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1732975</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.">C5399980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1732975">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1771439"><div><strong>Renal tubular acidosis, distal, 4, with hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1771439</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.">C5436235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1771439">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750003"><div><strong>Rajab interstitial lung disease with brain calcifications 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750003</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.">C5436276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rajab interstitial lung disease with brain calcifications-1 (RILDBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by Xu et al., 2018). Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications Also see Rajab interstitial disease with brain calcifications-2 (RILDBC2; 619013), caused by mutation in the FARSA gene (602918).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1750003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1781366"><div><strong>Hypercholanemia, familial 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781366</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.">C5542604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy (Morton et al., 2000; Shneider et al., 1997; summary by Carlton et al., 2003). Genetic Heterogeneity of FHCA See FHCA2 (619256), caused by mutation in the SLC10A1 gene (182396) on chromosome 14q24, and FCHA3 (619232), caused by mutation in the BAAT gene (602938) on chromosome 9q31. Other disorders that may have hypercholanemia as a feature include THNS (618268), caused by mutation in the CCDC47 gene (618260) on chromosome 17q23, and NEDFHCA (621016), caused by mutation in the WDR83OS gene (618474) on chromosome 19p13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1781366">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1780260"><div><strong>Bile acid conjugation defect 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780260</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.">C5543203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypercholanemia-3 (FHCA3) is an autosomal recessive metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy. The clinical features of the disorder result from impaired absorption of fat-soluble vitamins. Vitamin D deficiency causes rickets with variable growth deficiency, and vitamin K deficiency causes a coagulopathy with decreased production of vitamin K-dependent clotting factors. More variable features may include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids (summary by Setchell et al., 2013). For a discussion of genetic heterogeneity of FHCA, see FHCA1 (607748).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780260">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adult hypophosphatasia</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_1780260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bile acid conjugation defect 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Celiac disease, susceptibility to, 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (34)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dent disease type 1</a></div>
|
||
<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_1635492" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi-Bickel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholanemia, familial 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic bone disease</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_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_75701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile nephropathic cystinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lowe 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_120640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hypomagnesemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645830" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive familial intrahepatic cholestasis type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal renal tubular acidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rajab interstitial lung disease with brain calcifications 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336601" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular acidosis 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1732975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1771439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular acidosis, distal, 4, with hemolytic anemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376565" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin D hydroxylation-deficient rickets, type 1B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin D-dependent rickets type II with alopecia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin D-dependent rickets, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin D-dependent rickets, type 2B</a></div></span></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38828931">Vitamin D for the Prevention of Disease: An Endocrine Society Clinical Practice Guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demay MB,
|
||
Pittas AG,
|
||
Bikle DD,
|
||
Diab DL,
|
||
Kiely ME,
|
||
Lazaretti-Castro M,
|
||
Lips P,
|
||
Mitchell DM,
|
||
Murad MH,
|
||
Powers S,
|
||
Rao SD,
|
||
Scragg R,
|
||
Tayek JA,
|
||
Valent AM,
|
||
Walsh JME,
|
||
McCartney CR</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2024 Jul 12;109(8):1907-1947.
|
||
doi: 10.1210/clinem/dgae290.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38828931" target="_blank">38828931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35940468">Hypophosphatemia: A Practical Guide to Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tebben PJ</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2022 Oct;28(10):1091-1099.
|
||
Epub 2022 Aug 6
|
||
doi: 10.1016/j.eprac.2022.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35940468" target="_blank">35940468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28516265">The vitamin D deficiency pandemic: Approaches for diagnosis, treatment and prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holick MF</span><br />
|
||
<span class="medgenPMjournal">Rev Endocr Metab Disord</span>
|
||
2017 Jun;18(2):153-165.
|
||
doi: 10.1007/s11154-017-9424-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28516265" target="_blank">28516265</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22rickets%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 (226)</a></div></div>
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</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/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/29265106">Rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carpenter TO,
|
||
Shaw NJ,
|
||
Portale AA,
|
||
Ward LM,
|
||
Abrams SA,
|
||
Pettifor JM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2017 Dec 21;3:17101.
|
||
doi: 10.1038/nrdp.2017.101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29265106" target="_blank">29265106</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26745253">Global Consensus Recommendations on Prevention and Management of Nutritional Rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Munns CF,
|
||
Shaw N,
|
||
Kiely M,
|
||
Specker BL,
|
||
Thacher TD,
|
||
Ozono K,
|
||
Michigami T,
|
||
Tiosano D,
|
||
Mughal MZ,
|
||
Mäkitie O,
|
||
Ramos-Abad L,
|
||
Ward L,
|
||
DiMeglio LA,
|
||
Atapattu N,
|
||
Cassinelli H,
|
||
Braegger C,
|
||
Pettifor JM,
|
||
Seth A,
|
||
Idris HW,
|
||
Bhatia V,
|
||
Fu J,
|
||
Goldberg G,
|
||
Sävendahl L,
|
||
Khadgawat R,
|
||
Pludowski P,
|
||
Maddock J,
|
||
Hyppönen E,
|
||
Oduwole A,
|
||
Frew E,
|
||
Aguiar M,
|
||
Tulchinsky T,
|
||
Butler G,
|
||
Högler W</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2016 Feb;101(2):394-415.
|
||
Epub 2016 Jan 8
|
||
doi: 10.1210/jc.2015-2175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26745253" target="_blank">26745253</a><a href="/pmc/articles/PMC4880117" target="_blank" class="PubMedFree">Free PMC Article</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 class="nl"><a target="_blank" href="/pubmed/18676559">Vitamin D deficiency in children and its management: review of current knowledge and recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Misra M,
|
||
Pacaud D,
|
||
Petryk A,
|
||
Collett-Solberg PF,
|
||
Kappy M;
|
||
Drug and Therapeutics Committee of the Lawson Wilkins Pediatric Endocrine Society</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2008 Aug;122(2):398-417.
|
||
doi: 10.1542/peds.2007-1894.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18676559" target="_blank">18676559</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rickets%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 (1570)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/34910242">Rickets guidance: part I-diagnostic workup.</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 Sep;37(9):2013-2036.
|
||
Epub 2021 Dec 15
|
||
doi: 10.1007/s00467-021-05328-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34910242" target="_blank">34910242</a><a href="/pmc/articles/PMC9307538" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30449548">Vitamin D insufficiency: Definition, diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouillon R,
|
||
Carmeliet G</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2018 Oct;32(5):669-684.
|
||
Epub 2018 Oct 3
|
||
doi: 10.1016/j.beem.2018.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30449548" target="_blank">30449548</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29265106">Rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carpenter TO,
|
||
Shaw NJ,
|
||
Portale AA,
|
||
Ward LM,
|
||
Abrams SA,
|
||
Pettifor JM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2017 Dec 21;3:17101.
|
||
doi: 10.1038/nrdp.2017.101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29265106" target="_blank">29265106</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23179485">Rickets: Part II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shore RM,
|
||
Chesney RW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2013 Jan;43(2):152-72.
|
||
Epub 2012 Nov 21
|
||
doi: 10.1007/s00247-012-2536-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23179485" target="_blank">23179485</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rickets%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 (1693)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37074534">Refractory Rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chinoy A,
|
||
Padidela R</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2023 Jun;90(6):574-581.
|
||
Epub 2023 Apr 19
|
||
doi: 10.1007/s12098-023-04538-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37074534" target="_blank">37074534</a><a href="/pmc/articles/PMC10212799" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36446330">Rickets, Vitamin D, and Ca/P Metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller WL,
|
||
Imel EA</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2022;95(6):579-592.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1159/000527011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446330" target="_blank">36446330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34815552">The health effects of vitamin D supplementation: evidence from human studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouillon R,
|
||
Manousaki D,
|
||
Rosen C,
|
||
Trajanoska K,
|
||
Rivadeneira F,
|
||
Richards JB</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2022 Feb;18(2):96-110.
|
||
Epub 2021 Nov 23
|
||
doi: 10.1038/s41574-021-00593-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34815552" target="_blank">34815552</a><a href="/pmc/articles/PMC8609267" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33232959">Vitamin D in Toddlers, Preschool Children, and Adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor SN</span><br />
|
||
<span class="medgenPMjournal">Ann Nutr Metab</span>
|
||
2020;76 Suppl 2:30-41.
|
||
Epub 2020 Nov 24
|
||
doi: 10.1159/000505635.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33232959" target="_blank">33232959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30321335">Skeletal and Extraskeletal Actions of Vitamin D: Current Evidence and Outstanding Questions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouillon R,
|
||
Marcocci C,
|
||
Carmeliet G,
|
||
Bikle D,
|
||
White JH,
|
||
Dawson-Hughes B,
|
||
Lips P,
|
||
Munns CF,
|
||
Lazaretti-Castro M,
|
||
Giustina A,
|
||
Bilezikian J</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2019 Aug 1;40(4):1109-1151.
|
||
doi: 10.1210/er.2018-00126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30321335" target="_blank">30321335</a><a href="/pmc/articles/PMC6626501" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rickets%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 (1930)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36729281">Inherited Fanconi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albuquerque ALB,
|
||
Dos Santos Borges R,
|
||
Conegundes AF,
|
||
Dos Santos EE,
|
||
Fu FMM,
|
||
Araujo CT,
|
||
Vaz de Castro PAS,
|
||
Simões E Silva AC</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2023 Jul;19(7):619-634.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1007/s12519-023-00685-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729281" target="_blank">36729281</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/30321335">Skeletal and Extraskeletal Actions of Vitamin D: Current Evidence and Outstanding Questions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouillon R,
|
||
Marcocci C,
|
||
Carmeliet G,
|
||
Bikle D,
|
||
White JH,
|
||
Dawson-Hughes B,
|
||
Lips P,
|
||
Munns CF,
|
||
Lazaretti-Castro M,
|
||
Giustina A,
|
||
Bilezikian J</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2019 Aug 1;40(4):1109-1151.
|
||
doi: 10.1210/er.2018-00126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30321335" target="_blank">30321335</a><a href="/pmc/articles/PMC6626501" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18676559">Vitamin D deficiency in children and its management: review of current knowledge and recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Misra M,
|
||
Pacaud D,
|
||
Petryk A,
|
||
Collett-Solberg PF,
|
||
Kappy M;
|
||
Drug and Therapeutics Committee of the Lawson Wilkins Pediatric Endocrine Society</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2008 Aug;122(2):398-417.
|
||
doi: 10.1542/peds.2007-1894.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18676559" target="_blank">18676559</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14271358">TYROSINEMIA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">GENTZ J,
|
||
JAGENBURG R,
|
||
ZETTERSTROEM R</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1965 Apr;66:670-96.
|
||
doi: 10.1016/s0022-3476(65)80002-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14271358" target="_blank">14271358</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rickets%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 (580)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34815552">The health effects of vitamin D supplementation: evidence from human studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouillon R,
|
||
Manousaki D,
|
||
Rosen C,
|
||
Trajanoska K,
|
||
Rivadeneira F,
|
||
Richards JB</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2022 Feb;18(2):96-110.
|
||
Epub 2021 Nov 23
|
||
doi: 10.1038/s41574-021-00593-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34815552" target="_blank">34815552</a><a href="/pmc/articles/PMC8609267" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33232959">Vitamin D in Toddlers, Preschool Children, and Adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor SN</span><br />
|
||
<span class="medgenPMjournal">Ann Nutr Metab</span>
|
||
2020;76 Suppl 2:30-41.
|
||
Epub 2020 Nov 24
|
||
doi: 10.1159/000505635.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33232959" target="_blank">33232959</a></div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imel EA,
|
||
Glorieux FH,
|
||
Whyte MP,
|
||
Munns CF,
|
||
Ward LM,
|
||
Nilsson O,
|
||
Simmons JH,
|
||
Padidela R,
|
||
Namba N,
|
||
Cheong HI,
|
||
Pitukcheewanont P,
|
||
Sochett E,
|
||
Högler W,
|
||
Muroya K,
|
||
Tanaka H,
|
||
Gottesman GS,
|
||
Biggin A,
|
||
Perwad F,
|
||
Mao M,
|
||
Chen CY,
|
||
Skrinar A,
|
||
San Martin J,
|
||
Portale AA</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2019 Jun 15;393(10189):2416-2427.
|
||
Epub 2019 May 16
|
||
doi: 10.1016/S0140-6736(19)30654-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31104833" target="_blank">31104833</a><a href="/pmc/articles/PMC7179969" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30321335">Skeletal and Extraskeletal Actions of Vitamin D: Current Evidence and Outstanding Questions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouillon R,
|
||
Marcocci C,
|
||
Carmeliet G,
|
||
Bikle D,
|
||
White JH,
|
||
Dawson-Hughes B,
|
||
Lips P,
|
||
Munns CF,
|
||
Lazaretti-Castro M,
|
||
Giustina A,
|
||
Bilezikian J</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2019 Aug 1;40(4):1109-1151.
|
||
doi: 10.1210/er.2018-00126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30321335" target="_blank">30321335</a><a href="/pmc/articles/PMC6626501" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3767415">Osteopenia of prematurity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James JR,
|
||
Congdon PJ,
|
||
Truscott J,
|
||
Horsman A,
|
||
Arthur R</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1986 Sep;61(9):871-6.
|
||
doi: 10.1136/adc.61.9.871.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3767415" target="_blank">3767415</a><a href="/pmc/articles/PMC1778001" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rickets%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 (916)</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/33305822">Vitamin D supplementation for term breastfed infants to prevent vitamin D deficiency and improve bone health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan ML,
|
||
Abrams SA,
|
||
Osborn DA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Dec 11;12(12):CD013046.
|
||
doi: 10.1002/14651858.CD013046.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33305822" target="_blank">33305822</a><a href="/pmc/articles/PMC8812278" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27922335">Nutritional rickets around the world: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Creo AL,
|
||
Thacher TD,
|
||
Pettifor JM,
|
||
Strand MA,
|
||
Fischer PR</span><br />
|
||
<span class="medgenPMjournal">Paediatr Int Child Health</span>
|
||
2017 May;37(2):84-98.
|
||
Epub 2016 Dec 6
|
||
doi: 10.1080/20469047.2016.1248170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27922335" target="_blank">27922335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25025896">Vitamin D supplementation in pregnancy: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvey NC,
|
||
Holroyd C,
|
||
Ntani G,
|
||
Javaid K,
|
||
Cooper P,
|
||
Moon R,
|
||
Cole Z,
|
||
Tinati T,
|
||
Godfrey K,
|
||
Dennison E,
|
||
Bishop NJ,
|
||
Baird J,
|
||
Cooper C</span><br />
|
||
<span class="medgenPMjournal">Health Technol Assess</span>
|
||
2014 Jul;18(45):1-190.
|
||
doi: 10.3310/hta18450.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25025896" target="_blank">25025896</a><a href="/pmc/articles/PMC4124722" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18088161">Effectiveness and safety of vitamin D in relation to bone health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cranney A,
|
||
Horsley T,
|
||
O'Donnell S,
|
||
Weiler H,
|
||
Puil L,
|
||
Ooi D,
|
||
Atkinson S,
|
||
Ward L,
|
||
Moher D,
|
||
Hanley D,
|
||
Fang M,
|
||
Yazdi F,
|
||
Garritty C,
|
||
Sampson M,
|
||
Barrowman N,
|
||
Tsertsvadze A,
|
||
Mamaladze V</span><br />
|
||
<span class="medgenPMjournal">Evid Rep Technol Assess (Full Rep)</span>
|
||
2007 Aug;(158):1-235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18088161" target="_blank">18088161</a><a href="/pmc/articles/PMC4781354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17908730">Swaddling: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Sleuwen BE,
|
||
Engelberts AC,
|
||
Boere-Boonekamp MM,
|
||
Kuis W,
|
||
Schulpen TW,
|
||
L'Hoir MP</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2007 Oct;120(4):e1097-106.
|
||
doi: 10.1542/peds.2006-2083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17908730" target="_blank">17908730</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rickets%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 (39)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0035579%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035579%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0035579%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Rickets" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22rickets%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(%22Rickets%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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|
||
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Rickets" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5700/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
||
<div class="portlet brieflink">
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||
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<h3>Reviews</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
|
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<ul>
|
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<li>
|
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<a href="/pubmed/clinical?term=Rickets" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
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</li>
|
||
<li>
|
||
<a href="/pubmed?term=Rickets%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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|
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=48470" ref="log$=recordlinks">ClinVar</a>
|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0035579[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0035579[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
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|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=48470" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=48470" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=48470" ref="log$=recordlinks">PubMed</a>
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||
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|
||
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|
||
|
||
|
||
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|
||
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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Turn On
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3950384f3725e59b49489">Rickets</a>
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||
<div class="ralinkpop offscreen_noflow">Rickets<div class="brieflinkpopdesc"></div></div>
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||
<div class="tertiary">MedGen</div>
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</li>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d3950067c23b31e030631f">Stage 5 chronic kidney disease</a>
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<div class="ralinkpop offscreen_noflow">Stage 5 chronic kidney disease<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d394fe2f30673f7b6fe5b9">Proteinuria</a>
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<div class="ralinkpop offscreen_noflow">Proteinuria<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d394ec84f3725e59b41519">Cystinosis - GeneReviews®</a>
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||
<div class="ralinkpop offscreen_noflow">Cystinosis - GeneReviews®<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary"></div>
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<li class="ra_rcd ralinkpopper two_line">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d394eacde49f3df74b976d">Table B. [OMIM Entries for Cystinosis (View All in OMIM)]. - GeneReviews®</a>
|
||
<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Cystinosis (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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||
<div class="tertiary"></div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
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