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<meta name="keywords" content="C4692564, calcinosis, tumoral, with hyperphosphatemia, cortical hyperostosis with hyperphosphatemia, disease or syndrome, fgf23-related familial hyperphosphatemic tumoral calcinosis, galnt3, hftc1, hyperostosis with hyperphosphatemia, hyperostosis-hyperphosphatemia syndrome, lipocalcinogranulomatosis, morbus teutschlaender, teutschlaender disease, familial, tumoral calcinosis, hyperphosphatemic, familial, tumoral calcinosis, hyperphosphatemic, familial, 1, tumoral calcinosis, primary hyperphosphatemic, 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="Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by: Ectopic calcifications (tumoral calcinosis) typically found in periarticular soft tissues exposed to repetitive trauma or prolonged pressure (e.g., hips, elbows, and shoulders); and Painful swellings (referred to as hyperostosis) in the areas overlying the diaphyses of the tibiae (and less often the ulna, metacarpal bones, and radius). The dental phenotype unique to HFTC includes enamel hypoplasia, short and bulbous roots, obliteration of pulp chambers and canals, and pulp stones. Less common are large and small vessel calcifications that are often asymptomatic incidental findings on radiologic studies but can also cause peripheral vascular insufficiency (e.g., pain, cold extremities, and decreased peripheral pulses). Less frequently reported findings include testicular microlithiasis and angioid streaks of the retina." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1642611
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ConceptID=C4692564
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-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476672/bin/hyper-ftc-Image002.gif" src-large="/books/NBK476672/bin/hyper-ftc-Image002.jpg" /></a><br /><a href="/books/NBK476672/figure/hyper-ftc.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476672/bin/hyper-ftc-Image001.gif" src-large="/books/NBK476672/bin/hyper-ftc-Image001.jpg" /></a><br /><a href="/books/NBK476672/figure/hyper-ftc.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476672/bin/hyper-ftc-Image003.gif" src-large="/books/NBK476672/bin/hyper-ftc-Image003.jpg" /></a><br /><a href="/books/NBK476672/figure/hyper-ftc.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Tumoral calcinosis, hyperphosphatemic, familial, 1<span class="h1sub">(HFTC1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642611</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:">C4692564</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>CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA; CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA; FGF23-Related Familial Hyperphosphatemic Tumoral Calcinosis; HYPEROSTOSIS WITH HYPERPHOSPHATEMIA; HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; LIPOCALCINOGRANULOMATOSIS; MORBUS TEUTSCHLAENDER; TEUTSCHLAENDER DISEASE, FAMILIAL; TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC</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="GALNT3 - ID: 2591 - NCBI Gene" href="/gene/2591" class="medgenPMinfo">GALNT3</a> (2q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0100252" target="_blank">MONDO:0100252</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/211900" target="_blank">211900</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_101">
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<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>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK476672" target="_blank">Hyperphosphatemic Familial Tumoral Calcinosis</a></div><div>Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by: Ectopic calcifications (tumoral calcinosis) typically found in periarticular soft tissues exposed to repetitive trauma or prolonged pressure (e.g., hips, elbows, and shoulders); and Painful swellings (referred to as hyperostosis) in the areas overlying the diaphyses of the tibiae (and less often the ulna, metacarpal bones, and radius). The dental phenotype unique to HFTC includes enamel hypoplasia, short and bulbous roots, obliteration of pulp chambers and canals, and pulp stones. Less common are large and small vessel calcifications that are often asymptomatic incidental findings on radiologic studies but can also cause peripheral vascular insufficiency (e.g., pain, cold extremities, and decreased peripheral pulses). Less frequently reported findings include testicular microlithiasis and angioid streaks of the retina. [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/NBK476672#hyper-ftc.Summary" target="NBK476672">Summary</a> | <a class="medgenPMinfo" href="/books/NBK476672#hyper-ftc.Diagnosis" target="NBK476672">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK476672#hyper-ftc.Clinical_Characteristics" target="NBK476672">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK476672#hyper-ftc.Genetically_Related_Allelic_Di" target="NBK476672">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK476672#hyper-ftc.Differential_Diagnosis" target="NBK476672">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK476672#hyper-ftc.Management" target="NBK476672">Management</a> | <a class="medgenPMinfo" href="/books/NBK476672#hyper-ftc.Genetic_Counseling" target="NBK476672">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK476672#hyper-ftc.Resources" target="NBK476672">Resources</a> | <a class="medgenPMinfo" href="/books/NBK476672#hyper-ftc.Molecular_Genetics" target="NBK476672">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK476672#hyper-ftc.References" target="NBK476672">References</a> | <a class="medgenPMinfo" href="/books/NBK476672#hyper-ftc.Chapter_Notes" target="NBK476672">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Mary Scott Ramnitz | Rachel I Gafni | Michael T Collins <a href="/books/NBK476672" target="NBK476672" title="NCBI Bookshelf: Hyperphosphatemic Familial Tumoral Calcinosis">view full author information</a></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 (605380) or GALNT3 gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.
|
||
HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005).
|
||
Genetic Heterogeneity of Hyperphosphatemic Familial Tumoral Calcinosis
|
||
Also see HFTC2 (617993), caused by mutation in the FGF23 gene (605380) on chromosome 12p13, and HFTC3 (617994), caused by mutation in the KL gene (604824) on chromosome 13q13. Most cases are caused by mutation in the GALNT3 gene. <a target="_blank" href="http://www.omim.org/entry/211900">http://www.omim.org/entry/211900</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. Calcinosis usually occurs in and just under skin tissue around the joints, most often the hips, shoulders, and elbows. Calcinosis may also develop in the soft tissue of the feet, legs, and hands. Rarely, calcinosis occurs in blood vessels or in the brain and can cause serious health problems. The deposits develop over time and vary in size. Larger deposits form masses that are noticeable under the skin and can interfere with the function of joints and impair movement. These large deposits may appear tumor-like (tumoral), but they are not tumors or cancerous. The number and frequency of deposits varies among affected individuals; some develop few deposits during their lifetime, while others may develop many in a short period of time.<br /><br />A similar condition called hyperphosphatemia-hyperostosis syndrome (HHS) results in increased levels of phosphate in the blood, excessive bone growth, and bone lesions. This condition used to be considered a separate disorder, but it is now thought to be a mild variant of HFTC.<br /><br />Other features of HFTC include eye abnormalities such as calcium buildup in the clear front covering of the eye (corneal calcification) or angioid streaks that occur when tiny breaks form in the layer of tissue at the back of the eye called Bruch's membrane. Inflammation of the long bones (diaphysis) or excessive bone growth (hyperostosis) may occur. Some affected individuals have dental abnormalities. In males, small crystals of cholesterol can accumulate (microlithiasis) in the testicles, which usually causes no health problems. <a target="_blank" href="https://medlineplus.gov/genetics/condition/hyperphosphatemic-familial-tumoral-calcinosis">https://medlineplus.gov/genetics/condition/hyperphosphatemic-familial-tumoral-calcinosis</a></div></div>
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||
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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_10222"><div><strong>Nephrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10222</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10222">Feature record</a> | <a href="/medgen?term=%22Nephrocalcinosis%22%5BClinical%20Features%5D%20OR%2010222%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_409704"><div><strong>Decreased renal tubular phosphate excretion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409704</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.">C1968899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/409704">Feature record</a> | <a href="/medgen?term=%22Decreased%20renal%20tubular%20phosphate%20excretion%22%5BClinical%20Features%5D%20OR%20409704%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_368914"><div><strong>Increased renal tubular phosphate reabsorption</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>368914</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.">C1968910</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/368914">Feature record</a> | <a href="/medgen?term=%22Increased%20renal%20tubular%20phosphate%20reabsorption%22%5BClinical%20Features%5D%20OR%20368914%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_90990"><div><strong>Vascular calcification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90990</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.">C0342649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormal calcification of the vasculature.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/90990">Feature record</a> | <a href="/medgen?term=%22Vascular%20calcification%22%5BClinical%20Features%5D%20OR%2090990%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_709"><div><strong>Calcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>709</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.">C0006663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Formation of calcium deposits in any soft tissue.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/709">Feature record</a> | <a href="/medgen?term=%22Calcinosis%22%5BClinical%20Features%5D%20OR%20709%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_9366"><div><strong>Hyperostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9366</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.">C0020492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Excessive growth or abnormal thickening of bone tissue.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9366">Feature record</a> | <a href="/medgen?term=%22Hyperostosis%22%5BClinical%20Features%5D%20OR%209366%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_393241"><div><strong>Subperiosteal bone formation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393241</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.">C2674853</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">The formation of new bone along the cortex and underneath the periosteum of a bone.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/393241">Feature record</a> | <a href="/medgen?term=%22Subperiosteal%20bone%20formation%22%5BClinical%20Features%5D%20OR%20393241%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_5686"><div><strong>Hypercalcemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5686</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.">C0020437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormally increased calcium concentration in the blood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/5686">Feature record</a> | <a href="/medgen?term=%22Hypercalcemia%22%5BClinical%20Features%5D%20OR%205686%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_39326"><div><strong>Hyperphosphatemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39326</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.">C0085681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormally increased phosphate concentration in the blood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/39326">Feature record</a> | <a href="/medgen?term=%22Hyperphosphatemia%22%5BClinical%20Features%5D%20OR%2039326%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_727252"><div><strong>Elevated circulating alkaline phosphatase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>727252</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1314665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormally increased serum levels of alkaline phosphatase activity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/727252">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alkaline%20phosphatase%20concentration%22%5BClinical%20Features%5D%20OR%20727252%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1619023"><div><strong>High serum calcitriol</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619023</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4531136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1619023">Feature record</a> | <a href="/medgen?term=%22High%20serum%20calcitriol%22%5BClinical%20Features%5D%20OR%201619023%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_3730"><div><strong>Enamel hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3730</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.">C0011351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Developmental hypoplasia of the dental enamel.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/3730">Feature record</a> | <a href="/medgen?term=%22Enamel%20hypoplasia%22%5BClinical%20Features%5D%20OR%203730%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_75596"><div><strong>Taurodontism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75596</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.">C0266039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75596">Feature record</a> | <a href="/medgen?term=%22Taurodontism%22%5BClinical%20Features%5D%20OR%2075596%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_315928"><div><strong>Denticles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315928</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.">C1527284</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Dentin dysplasia type II (DTDP2) is a defect of dentin formation in which the clinical appearance of the secondary teeth is normal, but the primary teeth may appear opalescent, similar to teeth affected by dentinogenesis imperfecta. The roots of the teeth are of normal shape and morphologic character. The pulp chambers and root canals of the anterior teeth and the premolars are shaped like thistle tubes because of the radicular extension of the pulp chamber. Most teeth show accumulations of pulp stones in these unusually shaped pulp chambers (summary by Kalk et al., 1998). Also see dentin dysplasia type I (DTDP1; 125400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/315928">Feature record</a> | <a href="/medgen?term=%22Denticles%22%5BClinical%20Features%5D%20OR%20315928%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_368912"><div><strong>Conjunctival whitish salt-like deposits</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>368912</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.">C1968901</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/368912">Feature record</a> | <a href="/medgen?term=%22Conjunctival%20whitish%20salt-like%20deposits%22%5BClinical%20Features%5D%20OR%20368912%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_6967"><div><strong>Hyperparathyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6967</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.">C0020502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Excessive production of parathyroid hormone (PTH) by the parathyroid glands.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6967">Feature record</a> | <a href="/medgen?term=%22Hyperparathyroidism%22%5BClinical%20Features%5D%20OR%206967%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1541"><div><strong>Angioid streaks</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1541</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.">C0002982</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Angioid streaks are irregular tapering linear breaks in the Bruch membrane that typically emanate from the optic disk (summary by Karacorlu et al., 2002).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1541">Feature record</a> | <a href="/medgen?term=%22Angioid%20streaks%22%5BClinical%20Features%5D%20OR%201541%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_368912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conjunctival whitish salt-like deposits</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_315928" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Denticles</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enamel hypoplasia</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Taurodontism</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_727252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alkaline phosphatase concentration</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1619023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High serum calcitriol</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercalcemia</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39326" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90990" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vascular calcification</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperparathyroidism</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Angioid streaks</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_409704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased renal tubular phosphate excretion</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_368914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased renal tubular phosphate reabsorption</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrocalcinosis</a></span></li></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_709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Calcinosis</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperostosis</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_393241" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subperiosteal bone formation</a></span></li></ul></li></ul></div></div>
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||
</div>
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||
<div class="portlet mgSection" id="ID_105">
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||
<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/32457699">Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boyce AM,
|
||
Lee AE,
|
||
Roszko KL,
|
||
Gafni RI</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2020;11:293.
|
||
Epub 2020 May 8
|
||
doi: 10.3389/fendo.2020.00293.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32457699" target="_blank">32457699</a><a href="/pmc/articles/PMC7225339" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28585220">Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nitschke Y,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2017 Aug;15(4):255-270.
|
||
doi: 10.1007/s11914-017-0370-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28585220" target="_blank">28585220</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(tumoral%20calcinosis%2C%20hyperphosphatemic%2C%20familial%2C%201)%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 (2)</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/29923062">Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chakhtoura M,
|
||
Ramnitz MS,
|
||
Khoury N,
|
||
Nemer G,
|
||
Shabb N,
|
||
Abchee A,
|
||
Berberi A,
|
||
Hourani M,
|
||
Collins M,
|
||
Ichikawa S,
|
||
El Hajj Fuleihan G</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2018 Sep;29(9):1987-2009.
|
||
Epub 2018 Jun 20
|
||
doi: 10.1007/s00198-018-4574-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29923062" target="_blank">29923062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28585220">Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nitschke Y,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2017 Aug;15(4):255-270.
|
||
doi: 10.1007/s11914-017-0370-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28585220" target="_blank">28585220</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27164190">Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramnitz MS,
|
||
Gourh P,
|
||
Goldbach-Mansky R,
|
||
Wodajo F,
|
||
Ichikawa S,
|
||
Econs MJ,
|
||
White KE,
|
||
Molinolo A,
|
||
Chen MY,
|
||
Heller T,
|
||
Del Rivero J,
|
||
Seo-Mayer P,
|
||
Arabshahi B,
|
||
Jackson MB,
|
||
Hatab S,
|
||
McCarthy E,
|
||
Guthrie LC,
|
||
Brillante BA,
|
||
Gafni RI,
|
||
Collins MT</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2016 Oct;31(10):1845-1854.
|
||
Epub 2016 Sep 20
|
||
doi: 10.1002/jbmr.2870.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27164190" target="_blank">27164190</a><a href="/pmc/articles/PMC5071128" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25899975">Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masi L,
|
||
Beltrami G,
|
||
Ottanelli S,
|
||
Franceschelli F,
|
||
Gozzini A,
|
||
Zonefrati R,
|
||
Galli G,
|
||
Ciuffi S,
|
||
Mavilia C,
|
||
Giusti F,
|
||
Marcucci G,
|
||
Cioppi F,
|
||
Colli E,
|
||
Fossi C,
|
||
Franchi A,
|
||
Casentini C,
|
||
Capanna R,
|
||
Brandi ML</span><br />
|
||
<span class="medgenPMjournal">Calcif Tissue Int</span>
|
||
2015 May;96(5):438-52.
|
||
Epub 2015 Apr 23
|
||
doi: 10.1007/s00223-015-9974-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25899975" target="_blank">25899975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19255228">Familial tumoral calcinosis: a forty-year follow-up on one family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carmichael KD,
|
||
Bynum JA,
|
||
Evans EB</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2009 Mar 1;91(3):664-71.
|
||
doi: 10.2106/JBJS.G.01512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19255228" target="_blank">19255228</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tumoral%20calcinosis%2C%20hyperphosphatemic%2C%20familial%2C%201%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39622520">Hyperphosphatemic Familial Tumoral Calcinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaszycki M,
|
||
Villalpando B,
|
||
Hickson L,
|
||
Rao S,
|
||
Wierenga K,
|
||
Garner H,
|
||
Sokumbi O,
|
||
Tolaymat L</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
2024 Dec;117(12):705-708.
|
||
doi: 10.14423/SMJ.0000000000001759.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39622520" target="_blank">39622520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38660800">Spatial Atlas for Mapping Vascular Microcalcification Using 18F-NaF PET/CT: Application in Hyperphosphatemic Familial Tumoral Calcinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheppard AJ,
|
||
Theng EH,
|
||
Paravastu SS,
|
||
Wojnowski NM,
|
||
Farhadi F,
|
||
Morris MA,
|
||
Hartley IR,
|
||
Gafni RI,
|
||
Roszko KL,
|
||
Collins MT,
|
||
Saboury B</span><br />
|
||
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
|
||
2024 Jun;44(6):1432-1446.
|
||
Epub 2024 Apr 25
|
||
doi: 10.1161/ATVBAHA.123.320455.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38660800" target="_blank">38660800</a><a href="/pmc/articles/PMC11111330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34245344">Primary hyperphosphatemic tumoral calcinosis: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang J,
|
||
Cao LG,
|
||
Zhang TR,
|
||
Li SM,
|
||
Meng QQ</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2022 Jan;33(1):309-312.
|
||
Epub 2021 Jul 10
|
||
doi: 10.1007/s00198-021-06056-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34245344" target="_blank">34245344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25951075">The Case | Ectopic calcifications in a child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keskar VS,
|
||
Imel EA,
|
||
Kulkarni M,
|
||
Mane S,
|
||
Jamale TE,
|
||
Econs MJ,
|
||
Hase NK</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2015 May;87(5):1079-81.
|
||
doi: 10.1038/ki.2014.76.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25951075" target="_blank">25951075</a><a href="/pmc/articles/PMC4431583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22396161">FGF23 and syndromes of abnormal renal phosphate handling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergwitz C,
|
||
Jüppner H</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2012;728:41-64.
|
||
doi: 10.1007/978-1-4614-0887-1_3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22396161" target="_blank">22396161</a><a href="/pmc/articles/PMC5234086" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tumoral%20calcinosis%2C%20hyperphosphatemic%2C%20familial%2C%201%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 (11)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35338393">Use of Teriparatide in Hyperphosphatemic Familial Tumor Calcinosis: Evaluating the Interaction Between FGF23 and PTH on the Phosphaturic Effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pallone SG,
|
||
Kunii IS,
|
||
da Silva REC,
|
||
Lazaretti-Castro M</span><br />
|
||
<span class="medgenPMjournal">Calcif Tissue Int</span>
|
||
2022 Jul;111(1):102-106.
|
||
Epub 2022 Mar 25
|
||
doi: 10.1007/s00223-022-00969-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35338393" target="_blank">35338393</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34464000">PTH and FGF23 Exert Interdependent Effects on Renal Phosphate Handling: Evidence From Patients With Hypoparathyroidism and Hyperphosphatemic Familial Tumoral Calcinosis Treated With Synthetic Human PTH 1-34.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ovejero D,
|
||
Hartley IR,
|
||
de Castro Diaz LF,
|
||
Theng E,
|
||
Li X,
|
||
Gafni RI,
|
||
Collins MT</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2022 Feb;37(2):179-184.
|
||
Epub 2021 Sep 15
|
||
doi: 10.1002/jbmr.4429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34464000" target="_blank">34464000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33257569">FGF23 contains two distinct high-affinity binding sites enabling bivalent interactions with α-Klotho.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suzuki Y,
|
||
Kuzina E,
|
||
An SJ,
|
||
Tome F,
|
||
Mohanty J,
|
||
Li W,
|
||
Lee S,
|
||
Liu Y,
|
||
Lax I,
|
||
Schlessinger J</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2020 Dec 15;117(50):31800-31807.
|
||
Epub 2020 Nov 30
|
||
doi: 10.1073/pnas.2018554117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33257569" target="_blank">33257569</a><a href="/pmc/articles/PMC7749347" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27164190">Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramnitz MS,
|
||
Gourh P,
|
||
Goldbach-Mansky R,
|
||
Wodajo F,
|
||
Ichikawa S,
|
||
Econs MJ,
|
||
White KE,
|
||
Molinolo A,
|
||
Chen MY,
|
||
Heller T,
|
||
Del Rivero J,
|
||
Seo-Mayer P,
|
||
Arabshahi B,
|
||
Jackson MB,
|
||
Hatab S,
|
||
McCarthy E,
|
||
Guthrie LC,
|
||
Brillante BA,
|
||
Gafni RI,
|
||
Collins MT</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2016 Oct;31(10):1845-1854.
|
||
Epub 2016 Sep 20
|
||
doi: 10.1002/jbmr.2870.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27164190" target="_blank">27164190</a><a href="/pmc/articles/PMC5071128" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25656441">Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Folsom LJ,
|
||
Imel EA</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2015 Apr;13(2):78-87.
|
||
doi: 10.1007/s11914-015-0254-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25656441" target="_blank">25656441</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tumoral%20calcinosis%2C%20hyperphosphatemic%2C%20familial%2C%201%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39622520">Hyperphosphatemic Familial Tumoral Calcinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaszycki M,
|
||
Villalpando B,
|
||
Hickson L,
|
||
Rao S,
|
||
Wierenga K,
|
||
Garner H,
|
||
Sokumbi O,
|
||
Tolaymat L</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
2024 Dec;117(12):705-708.
|
||
doi: 10.14423/SMJ.0000000000001759.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39622520" target="_blank">39622520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38660800">Spatial Atlas for Mapping Vascular Microcalcification Using 18F-NaF PET/CT: Application in Hyperphosphatemic Familial Tumoral Calcinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheppard AJ,
|
||
Theng EH,
|
||
Paravastu SS,
|
||
Wojnowski NM,
|
||
Farhadi F,
|
||
Morris MA,
|
||
Hartley IR,
|
||
Gafni RI,
|
||
Roszko KL,
|
||
Collins MT,
|
||
Saboury B</span><br />
|
||
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
|
||
2024 Jun;44(6):1432-1446.
|
||
Epub 2024 Apr 25
|
||
doi: 10.1161/ATVBAHA.123.320455.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38660800" target="_blank">38660800</a><a href="/pmc/articles/PMC11111330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19255228">Familial tumoral calcinosis: a forty-year follow-up on one family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carmichael KD,
|
||
Bynum JA,
|
||
Evans EB</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2009 Mar 1;91(3):664-71.
|
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doi: 10.2106/JBJS.G.01512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19255228" target="_blank">19255228</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16868048">The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garringer HJ,
|
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Fisher C,
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Larsson TE,
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Davis SI,
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Koller DL,
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Cullen MJ,
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Draman MS,
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Conlon N,
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Jain A,
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Fedarko NS,
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
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2006 Oct;91(10):4037-42.
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Epub 2006 Jul 25
|
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doi: 10.1210/jc.2006-0305.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16868048" target="_blank">16868048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8786184">Proposal for a pathogenesis-based classification of tumoral calcinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smack D,
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Norton SA,
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Fitzpatrick JE</span><br />
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<span class="medgenPMjournal">Int J Dermatol</span>
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1996 Apr;35(4):265-71.
|
||
doi: 10.1111/j.1365-4362.1996.tb02999.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8786184" target="_blank">8786184</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tumoral%20calcinosis%2C%20hyperphosphatemic%2C%20familial%2C%201%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39622520">Hyperphosphatemic Familial Tumoral Calcinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaszycki M,
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Villalpando B,
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Hickson L,
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Rao S,
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Wierenga K,
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Garner H,
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Sokumbi O,
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Tolaymat L</span><br />
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<span class="medgenPMjournal">South Med J</span>
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||
2024 Dec;117(12):705-708.
|
||
doi: 10.14423/SMJ.0000000000001759.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39622520" target="_blank">39622520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38660800">Spatial Atlas for Mapping Vascular Microcalcification Using 18F-NaF PET/CT: Application in Hyperphosphatemic Familial Tumoral Calcinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheppard AJ,
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||
Theng EH,
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||
Paravastu SS,
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||
Wojnowski NM,
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Farhadi F,
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||
Morris MA,
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Hartley IR,
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Gafni RI,
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||
Roszko KL,
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||
Collins MT,
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||
Saboury B</span><br />
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||
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
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||
2024 Jun;44(6):1432-1446.
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||
Epub 2024 Apr 25
|
||
doi: 10.1161/ATVBAHA.123.320455.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38660800" target="_blank">38660800</a><a href="/pmc/articles/PMC11111330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34464000">PTH and FGF23 Exert Interdependent Effects on Renal Phosphate Handling: Evidence From Patients With Hypoparathyroidism and Hyperphosphatemic Familial Tumoral Calcinosis Treated With Synthetic Human PTH 1-34.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ovejero D,
|
||
Hartley IR,
|
||
de Castro Diaz LF,
|
||
Theng E,
|
||
Li X,
|
||
Gafni RI,
|
||
Collins MT</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2022 Feb;37(2):179-184.
|
||
Epub 2021 Sep 15
|
||
doi: 10.1002/jbmr.4429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34464000" target="_blank">34464000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34245344">Primary hyperphosphatemic tumoral calcinosis: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang J,
|
||
Cao LG,
|
||
Zhang TR,
|
||
Li SM,
|
||
Meng QQ</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2022 Jan;33(1):309-312.
|
||
Epub 2021 Jul 10
|
||
doi: 10.1007/s00198-021-06056-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34245344" target="_blank">34245344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27164190">Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramnitz MS,
|
||
Gourh P,
|
||
Goldbach-Mansky R,
|
||
Wodajo F,
|
||
Ichikawa S,
|
||
Econs MJ,
|
||
White KE,
|
||
Molinolo A,
|
||
Chen MY,
|
||
Heller T,
|
||
Del Rivero J,
|
||
Seo-Mayer P,
|
||
Arabshahi B,
|
||
Jackson MB,
|
||
Hatab S,
|
||
McCarthy E,
|
||
Guthrie LC,
|
||
Brillante BA,
|
||
Gafni RI,
|
||
Collins MT</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2016 Oct;31(10):1845-1854.
|
||
Epub 2016 Sep 20
|
||
doi: 10.1002/jbmr.2870.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27164190" target="_blank">27164190</a><a href="/pmc/articles/PMC5071128" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tumoral%20calcinosis%2C%20hyperphosphatemic%2C%20familial%2C%201%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 (10)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
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|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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||
|
||
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|
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|
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<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><li><a href="/gtr/tests?term=C4692564%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C4692564%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4692564%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C4692564%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4692564%5bDISCUI%5d" target="_blank">See all (29)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=211900" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Tumoral%20calcinosis,%20hyperphosphatemic,%20familial,%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(tumoral%20calcinosis%2C%20hyperphosphatemic%2C%20familial%2C%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601756" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2591[geneid]" target="_blank">View GALNT3 variations in ClinVar</a></li><li><a href="/nuccore/237820684" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=211900" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/tumoral_calcinosis_hyperphosphatemic_familial_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Tumoral%20calcinosis,%20hyperphosphatemic,%20familial,%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hyperphosphatemic-familial-tumoral-calcinosis" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15146/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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<h3>Reviews</h3>
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<ul>
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<li>
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<a href="/pubmed/29389098" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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|
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<li>
|
||
<a href="/pubmed/clinical?term=Tumoral%20calcinosis,%20hyperphosphatemic,%20familial,%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<li>
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||
<a href="/pubmed?term=Tumoral%20calcinosis,%20hyperphosphatemic,%20familial,%201%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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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1642611" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1642611" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4692564[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4692564[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1642611" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1642611" ref="log$=recordlinks">OMIM(Genes)</a>
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1642611" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1642611" ref="log$=recordlinks">PubMed</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1642611" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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