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<meta name="keywords" content="C0268413, adult hypophosphatasia, adult phosphoethanolaminuria, adult rathbun disease, alpl, disease or syndrome, hppa, hypophosphatasia, adult, hypophosphatasia, adult type, hypophosphatasia, mild, 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="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" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=120636
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ConceptID=C0268413
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-->
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<!--imgCountBooks = 4--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (4)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1150/bin/hops-Image004.gif" src-large="/books/NBK1150/bin/hops-Image004.jpg" /></a><br /><a href="/books/NBK1150/figure/hops.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1150/bin/hops-Image001.gif" src-large="/books/NBK1150/bin/hops-Image001.jpg" /></a><br /><a href="/books/NBK1150/figure/hops.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1150/bin/hops-Image002.gif" src-large="/books/NBK1150/bin/hops-Image002.jpg" /></a><br /><a href="/books/NBK1150/figure/hops.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1150/bin/hops-Image003.gif" src-large="/books/NBK1150/bin/hops-Image003.jpg" /></a><br /><a href="/books/NBK1150/figure/hops.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Adult hypophosphatasia<span class="h1sub">(HPPA)</span></div></h1><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."><span class="highlight" style="background-color:">C0268413</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hypophosphatasia, Adult; Hypophosphatasia, Mild</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Adult hypophosphatasia (20756002); Hypophosphatasia, adult type (20756002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ALPL - ID: 249 - NCBI Gene" href="/gene/249" class="medgenPMinfo">ALPL</a> (1p36.12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/146300" target="_blank">146300</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247676">ORPHA247676</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1150" target="_blank">Hypophosphatasia</a></div><div>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 [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1150#hops.Summary" target="NBK1150">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1150#hops.Diagnosis" target="NBK1150">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1150#hops.Clinical_Characteristics" target="NBK1150">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1150#hops.Genetically_Related_Allelic_Disorde" target="NBK1150">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1150#hops.Differential_Diagnosis" target="NBK1150">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1150#hops.Management" target="NBK1150">Management</a> | <a class="medgenPMinfo" href="/books/NBK1150#hops.Genetic_Counseling" target="NBK1150">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1150#hops.Resources" target="NBK1150">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1150#hops.Molecular_Genetics" target="NBK1150">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1150#hops.Chapter_Notes" target="NBK1150">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1150#hops.References" target="NBK1150">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Mark E Nunes <a href="/books/NBK1150" target="NBK1150" title="NCBI Bookshelf: Hypophosphatasia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />The mildest form of this condition, called odontohypophosphatasia, only affects the teeth. People with this disorder typically experience abnormal tooth development and premature tooth loss, but do not have the skeletal abnormalities seen in other forms of hypophosphatasia.<br /><br />The forms of hypophosphatasia that appear in childhood or adulthood are typically less severe than those that appear in infancy. Early loss of primary (baby) teeth is one of the first signs of the condition in children. Affected children may have short stature with bowed legs or knock knees, enlarged wrist and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead to chronic pain. Affected adults may lose their secondary (adult) teeth prematurely and are at increased risk for joint pain and inflammation.<br /><br />The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder called rickets. Affected infants are born with short limbs, an abnormally shaped chest, and soft skull bones. Additional complications in infancy include poor feeding and a failure to gain weight, respiratory problems, and high levels of calcium in the blood (hypercalcemia), which can lead to recurrent vomiting and kidney problems. These complications are life-threatening in some cases.<br /><br />Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid and teeth that can withstand chewing and grinding. <a target="_blank" href="https://medlineplus.gov/genetics/condition/hypophosphatasia">https://medlineplus.gov/genetics/condition/hypophosphatasia</a></div></div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_1814510"><div><strong>Phosphoethanolaminuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814510</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.">C5700114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An increased level of phosphoethanolamine (synonym</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1814510">Feature record</a> | <a href="/medgen?term=%22Phosphoethanolaminuria%22%5BClinical%20Features%5D%20OR%201814510%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1762829"><div><strong>Abnormal foot morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1762829</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.">C5399834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormality of the skeleton of foot.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1762829">Feature record</a> | <a href="/medgen?term=%22Abnormal%20foot%20morphology%22%5BClinical%20Features%5D%20OR%201762829%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_42094"><div><strong>Recurrent fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42094</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0016655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
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<div class="spaceAbove">The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Recurrent%20fractures%22%5BClinical%20Features%5D%20OR%2042094%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_42095"><div><strong>Pathologic fracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42095</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.">C0016663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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<div class="spaceAbove">A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/42095">Feature record</a> | <a href="/medgen?term=%22Pathologic%20fracture%22%5BClinical%20Features%5D%20OR%2042095%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_7190"><div><strong>Arthropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7190</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.">C0022408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any disorder of the joints.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7190">Feature record</a> | <a href="/medgen?term=%22Arthropathy%22%5BClinical%20Features%5D%20OR%207190%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_14533"><div><strong>Osteomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14533</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0029442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/14533">Feature record</a> | <a href="/medgen?term=%22Osteomalacia%22%5BClinical%20Features%5D%20OR%2014533%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_48470"><div><strong>Rickets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48470</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0035579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/48470">Feature record</a> | <a href="/medgen?term=%22Rickets%22%5BClinical%20Features%5D%20OR%2048470%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_154303"><div><strong>Chondrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154303</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.">C0553730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/154303">Feature record</a> | <a href="/medgen?term=%22Chondrocalcinosis%22%5BClinical%20Features%5D%20OR%20154303%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_234655"><div><strong>Increased susceptibility to fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234655</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.">C1390474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/234655">Feature record</a> | <a href="/medgen?term=%22Increased%20susceptibility%20to%20fractures%22%5BClinical%20Features%5D%20OR%20234655%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_349734"><div><strong>Low alkaline phosphatase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349734</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.">C1860130</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormally reduced serum levels of alkaline phosphatase.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/349734">Feature record</a> | <a href="/medgen?term=%22Low%20alkaline%20phosphatase%22%5BClinical%20Features%5D%20OR%20349734%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_8288"><div><strong>Carious teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8288</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.">C0011334</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8288">Feature record</a> | <a href="/medgen?term=%22Carious%20teeth%22%5BClinical%20Features%5D%20OR%208288%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_585520"><div><strong>Premature loss of primary teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>585520</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.">C0399385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Loss of the primary (also known as deciduous) teeth before the usual age.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/585520">Feature record</a> | <a href="/medgen?term=%22Premature%20loss%20of%20primary%20teeth%22%5BClinical%20Features%5D%20OR%20585520%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_409904"><div><strong>Premature loss of permanent teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409904</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.">C1969738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Premature loss of the permanent teeth.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/409904">Feature record</a> | <a href="/medgen?term=%22Premature%20loss%20of%20permanent%20teeth%22%5BClinical%20Features%5D%20OR%20409904%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carious teeth</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_409904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature loss of permanent teeth</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_585520" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature loss of primary teeth</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1762829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal foot morphology</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_349734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low alkaline phosphatase</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1814510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phosphoethanolaminuria</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthropathy</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154303" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondrocalcinosis</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased susceptibility to fractures</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14533" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteomalacia</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pathologic fracture</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fractures</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rickets</a></span></li></ul></li></ul></div></div>
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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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0020630[DISCUI]&test_type=Clinical" ref="ncbi_uid=43799">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1150/" ref="ncbi_uid=43799">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=43799" ref="ncbi_uid=43799">V</a></span></span><span class="TLline"><a href="/medgen/43799" ref="tree=GTR&ncbi_uid=43799&link_uid=43799" title="View MedGen record for 'Hypophosphatasia'">Hypophosphatasia</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268413[DISCUI]&test_type=Clinical" ref="ncbi_uid=120636">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=120636" target="_blank" href="/omim/146300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1150/" ref="ncbi_uid=120636">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=120636" ref="ncbi_uid=120636">V</a></span></span><span class="TLline">Adult hypophosphatasia</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220743[DISCUI]&test_type=Clinical" ref="ncbi_uid=65089">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=65089" target="_blank" href="/omim/171760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1150/" ref="ncbi_uid=65089">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=65089" ref="ncbi_uid=65089">V</a></span></span><span class="TLline"><a href="/medgen/65089" ref="tree=GTR&ncbi_uid=65089&link_uid=65089" title="View MedGen record for 'Childhood hypophosphatasia'">Childhood hypophosphatasia</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=C0268412[DISCUI]&test_type=Clinical" ref="ncbi_uid=75677">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75677" target="_blank" href="/omim/171760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1150/" ref="ncbi_uid=75677">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75677" ref="ncbi_uid=75677">V</a></span></span><span class="TLline"><a href="/medgen/75677" ref="tree=GTR&ncbi_uid=75677&link_uid=75677" title="View MedGen record for 'Infantile hypophosphatasia'">Infantile hypophosphatasia</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/1826093" ref="tree=MeSH" title="MedGen record for Developmental anomaly of metabolic origin">Developmental anomaly of metabolic origin</a></span><ul><li><span class="TLline"><a href="/medgen/43799" ref="tree=MeSH" title="MedGen record for Hypophosphatasia">Hypophosphatasia</a></span><ul><li><span class="matched_ds">Adult hypophosphatasia</span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=19535&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Adult hypophosphatasia</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31077853">A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martins L,
|
||
de Almeida AB,
|
||
Dos Santos EJL,
|
||
Foster BL,
|
||
Machado RA,
|
||
Kantovitz KR,
|
||
Coletta RD,
|
||
Nociti FH Jr</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2019 Aug;125:128-139.
|
||
Epub 2019 May 8
|
||
doi: 10.1016/j.bone.2019.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31077853" target="_blank">31077853</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22adult%20hypophosphatasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20978533">Clinical utility gene card for: hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mornet E,
|
||
Beck C,
|
||
Bloch-Zupan A,
|
||
Girschick H,
|
||
Le Merrer M</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Mar;19(3)
|
||
Epub 2010 Oct 27
|
||
doi: 10.1038/ejhg.2010.170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20978533" target="_blank">20978533</a><a href="/pmc/articles/PMC3061990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/40001078">How does overweight affect bone mineral density and oral health in adult hypophosphatasia?- A single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dudde F,
|
||
Fildebrandt D,
|
||
Petz K,
|
||
Smeets R,
|
||
Gosau M,
|
||
Amling M,
|
||
Beikler T,
|
||
Barvencik F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2025 Feb 25;20(1):85.
|
||
doi: 10.1186/s13023-025-03611-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40001078" target="_blank">40001078</a><a href="/pmc/articles/PMC11863566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39498489">Possible role of bone turnover markers in the diagnosis of adult hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bertoldo F,
|
||
Tripepi G,
|
||
Zaninotto M,
|
||
Plebani M,
|
||
Scillitani A,
|
||
Varenna M,
|
||
Crotti C,
|
||
Cipriani C,
|
||
Pepe J,
|
||
Minisola S,
|
||
Pugliese F,
|
||
Guarnieri V,
|
||
Baffa V,
|
||
Torres MO,
|
||
Zanchetta F,
|
||
Fusaro M,
|
||
Rossini M,
|
||
Brandi ML,
|
||
Egan CG,
|
||
Simioni P,
|
||
Arcidiacono GP,
|
||
Sella S,
|
||
Giannini S</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2024 Dec 31;40(1):79-86.
|
||
doi: 10.1093/jbmr/zjae177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39498489" target="_blank">39498489</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32879991">Bone mineral density and fracture risk in adult patients with hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genest F,
|
||
Claußen L,
|
||
Rak D,
|
||
Seefried L</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2021 Feb;32(2):377-385.
|
||
Epub 2020 Sep 2
|
||
doi: 10.1007/s00198-020-05612-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32879991" target="_blank">32879991</a><a href="/pmc/articles/PMC7838076" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28547134">Clinical, radiographic and biochemical characteristics of adult hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt T,
|
||
Mussawy H,
|
||
Rolvien T,
|
||
Hawellek T,
|
||
Hubert J,
|
||
Rüther W,
|
||
Amling M,
|
||
Barvencik F</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2017 Sep;28(9):2653-2662.
|
||
Epub 2017 May 25
|
||
doi: 10.1007/s00198-017-4087-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28547134" target="_blank">28547134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21267545">Skeletal mineralization defects in adult hypophosphatasia--a clinical and histological analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barvencik F,
|
||
Beil FT,
|
||
Gebauer M,
|
||
Busse B,
|
||
Koehne T,
|
||
Seitz S,
|
||
Zustin J,
|
||
Pogoda P,
|
||
Schinke T,
|
||
Amling M</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2011 Oct;22(10):2667-75.
|
||
Epub 2011 Jan 26
|
||
doi: 10.1007/s00198-011-1528-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21267545" target="_blank">21267545</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult%20hypophosphatasia%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39498489">Possible role of bone turnover markers in the diagnosis of adult hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bertoldo F,
|
||
Tripepi G,
|
||
Zaninotto M,
|
||
Plebani M,
|
||
Scillitani A,
|
||
Varenna M,
|
||
Crotti C,
|
||
Cipriani C,
|
||
Pepe J,
|
||
Minisola S,
|
||
Pugliese F,
|
||
Guarnieri V,
|
||
Baffa V,
|
||
Torres MO,
|
||
Zanchetta F,
|
||
Fusaro M,
|
||
Rossini M,
|
||
Brandi ML,
|
||
Egan CG,
|
||
Simioni P,
|
||
Arcidiacono GP,
|
||
Sella S,
|
||
Giannini S</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2024 Dec 31;40(1):79-86.
|
||
doi: 10.1093/jbmr/zjae177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39498489" target="_blank">39498489</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32912883">Adult hypophosphatasia manifests in a marathon runner.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fanous N,
|
||
Barb D</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2020 Sep 9;13(9)
|
||
doi: 10.1136/bcr-2020-234764.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32912883" target="_blank">32912883</a><a href="/pmc/articles/PMC7482458" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29405936">Adult hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Briot K,
|
||
Roux C</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2017 May;24(5S2):5S71-5S73.
|
||
doi: 10.1016/S0929-693X(18)30018-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29405936" target="_blank">29405936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1865578">Hypophosphatasia in an adult: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nangaku M,
|
||
Sato N,
|
||
Sugano K,
|
||
Takaku F</span><br />
|
||
<span class="medgenPMjournal">Jpn J Med</span>
|
||
1991 Jan-Feb;30(1):47-52.
|
||
doi: 10.2169/internalmedicine1962.30.47.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1865578" target="_blank">1865578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6648620">Adult hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coto H,
|
||
Douglas JE</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1983 Dec;76(12):1570-2.
|
||
doi: 10.1097/00007611-198312000-00030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6648620" target="_blank">6648620</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult%20hypophosphatasia%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 (32)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32879991">Bone mineral density and fracture risk in adult patients with hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genest F,
|
||
Claußen L,
|
||
Rak D,
|
||
Seefried L</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2021 Feb;32(2):377-385.
|
||
Epub 2020 Sep 2
|
||
doi: 10.1007/s00198-020-05612-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32879991" target="_blank">32879991</a><a href="/pmc/articles/PMC7838076" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32912883">Adult hypophosphatasia manifests in a marathon runner.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fanous N,
|
||
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2020 Sep 9;13(9)
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|
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<div class="portlet_content ln"><span class="medgenPMauthor">Righetti M,
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|
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<div class="nl"><a target="_blank" href="/pubmed/19113923">Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult%20hypophosphatasia%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 (15)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31077853">A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Martins L,
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de Almeida AB,
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Dos Santos EJL,
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Foster BL,
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Machado RA,
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2019 Aug;125:128-139.
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Epub 2019 May 8
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<span class="bold">PMID: </span><a href="/pubmed/31077853" target="_blank">31077853</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29236161">Genetic analysis of adults heterozygous for ALPL mutations.</a></div>
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Geneviève D,
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Chiesa J,
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Colin T,
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Fletcher E,
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Guichet A,
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Javier RM,
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Laurent M,
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LeHeup B,
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<span class="bold">PMID: </span><a href="/pubmed/29236161" target="_blank">29236161</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29405936">Adult hypophosphatasia.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/29405936" target="_blank">29405936</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1865578">Hypophosphatasia in an adult: a case report.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/6648620">Adult hypophosphatasia.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult%20hypophosphatasia%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/36514157">Identifying adult hypophosphatasia in the rheumatology unit.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Feurstein J,
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Behanova M,
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Haschka J,
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Roetzer K,
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Uyanik G,
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Hadzimuratovic B,
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Schett G,
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doi: 10.1186/s13023-022-02572-7.
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<span class="bold">PMID: </span><a href="/pubmed/36514157" target="_blank">36514157</a><a href="/pmc/articles/PMC9749273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32879991">Bone mineral density and fracture risk in adult patients with hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genest F,
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Claußen L,
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Rak D,
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2021 Feb;32(2):377-385.
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Epub 2020 Sep 2
|
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doi: 10.1007/s00198-020-05612-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32879991" target="_blank">32879991</a><a href="/pmc/articles/PMC7838076" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29405936">Adult hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Briot K,
|
||
Roux C</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2017 May;24(5S2):5S71-5S73.
|
||
doi: 10.1016/S0929-693X(18)30018-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29405936" target="_blank">29405936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28547134">Clinical, radiographic and biochemical characteristics of adult hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt T,
|
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Mussawy H,
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Rolvien T,
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Hawellek T,
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Amling M,
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Barvencik F</span><br />
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<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2017 Sep;28(9):2653-2662.
|
||
Epub 2017 May 25
|
||
doi: 10.1007/s00198-017-4087-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28547134" target="_blank">28547134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13798349">Metabolic observations in adult hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">BEISEL WR,
|
||
AUSTEN KF,
|
||
ROSEN H,
|
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HERNDON EG Jr</span><br />
|
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1960 Aug;29:369-76.
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<span class="bold">PMID: </span><a href="/pubmed/13798349" target="_blank">13798349</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult%20hypophosphatasia%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 (16)</a></div></div>
|
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268413%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (2)</a></li>
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<li><a href="/gtr/tests?term=C0268413%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (54)</a></li>
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<li><a href="/gtr/tests?term=C0268413%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
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<li><a href="/gtr/tests?term=C0268413%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (75)</a></li>
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<li><a href="/gtr/tests?term=C0268413%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (26)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268413%5bDISCUI%5d" target="_blank">See all (83)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22adult%20hypophosphatasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="/pmc/articles/PMC3061990/">EuroGenetest, 2011</a><div>Clinical utility gene card for: hypophosphatasia</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=171760" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=249[geneid]" target="_blank">View ALPL variations in ClinVar</a></li><li><a href="/nuccore/211971039" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=146300" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Adult+hypophosphatasia/7639" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hypophosphatasia_adult" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Adult%20hypophosphatasia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hypophosphatasia" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
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<a href="/pubmed?term=Adult%20hypophosphatasia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc2b26b15b832ebc011058">Adult hypophosphatasia</a>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc2b2484f3725e5943cddc">C0268413[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc2b22f4a390645e472786">Adrenocortical carcinoma, hereditary</a>
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