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<meta name="keywords" content="C1843330, autosomal dominant osteopetrosis 1, autosomal dominant osteopetrosis type 1, disease or syndrome, lrp5, lrp5 osteopetrosis (disease), lrp5-related autosomal dominant osteopetrosis, opta1, osteopetrosis (disease) caused by mutation in lrp5, osteopetrosis autosomal dominant type 1, osteopetrosis, autosomal dominant 1, osteopetrosis, autosomal dominant type 1, osteopetrosis, autosomal dominant, type 1, osteopetrosis, autosomal dominant, type i, 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="The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 (OPTA1) is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate (summary by Van Hul et al., 2002). Genetic Heterogeneity of Autosomal Dominant Osteopetrosis Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13. Autosomal dominant osteopetrosis-3 (OPTA3; 618107) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=335932
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ConceptID=C1843330
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal dominant osteopetrosis 1<span class="h1sub">(OPTA1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335932</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:">C1843330</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>LRP5-Related Autosomal Dominant Osteopetrosis; OPTA1; OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autosomal dominant osteopetrosis type 1 (1264041000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<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_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="LRP5 - ID: 4041 - NCBI Gene" href="/gene/4041" class="medgenPMinfo">LRP5</a> (11q13.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011877" target="_blank">MONDO:0011877</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/607634" target="_blank">607634</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=2783">ORPHA2783</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 (OPTA1) is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate (summary by Van Hul et al., 2002). Genetic Heterogeneity of Autosomal Dominant Osteopetrosis Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13. Autosomal dominant osteopetrosis-3 (OPTA3; 618107) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</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>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).<br /><br />A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.<br /><br />Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.<br /><br />In individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.<br /><br />Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. <br /><br />Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. <a target="_blank" href="https://medlineplus.gov/genetics/condition/osteopetrosis">https://medlineplus.gov/genetics/condition/osteopetrosis</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1633770"><div><strong>Mandibular pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633770</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.">C4552061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1633770">Feature record</a> | <a href="/medgen?term=%22Mandibular%20pain%22%5BClinical%20Features%5D%20OR%201633770%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9163"><div><strong>Conductive hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9163</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.">C0018777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9163">Feature record</a> | <a href="/medgen?term=%22Conductive%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%209163%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9149"><div><strong>Headache</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9149</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.">C0018681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9149">Feature record</a> | <a href="/medgen?term=%22Headache%22%5BClinical%20Features%5D%20OR%209149%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42094"><div><strong>Recurrent fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42094</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0016655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Recurrent%20fractures%22%5BClinical%20Features%5D%20OR%2042094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18223"><div><strong>Osteopetrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18223</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.">C0029454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18223">Feature record</a> | <a href="/medgen?term=%22Osteopetrosis%22%5BClinical%20Features%5D%20OR%2018223%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333557"><div><strong>Thickened cortex of long bones</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333557</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.">C1840418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal thickening of the cortex of long bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333557">Feature record</a> | <a href="/medgen?term=%22Thickened%20cortex%20of%20long%20bones%22%5BClinical%20Features%5D%20OR%20333557%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375162"><div><strong>Generalized osteosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375162</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.">C1843331</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase of bone mineral density with generalized involvement of the skeleton.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375162">Feature record</a> | <a href="/medgen?term=%22Generalized%20osteosclerosis%22%5BClinical%20Features%5D%20OR%20375162%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340927"><div><strong>Calvarial osteosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340927</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.">C1855657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in bone density affecting the calvaria (roof of the skull).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340927">Feature record</a> | <a href="/medgen?term=%22Calvarial%20osteosclerosis%22%5BClinical%20Features%5D%20OR%20340927%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346823"><div><strong>Thickened calvaria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346823</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.">C1858452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormally thick calvaria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346823">Feature record</a> | <a href="/medgen?term=%22Thickened%20calvaria%22%5BClinical%20Features%5D%20OR%20346823%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866545"><div><strong>Abnormal pelvic girdle bone morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866545</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.">C4020847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866545">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pelvic%20girdle%20bone%20morphology%22%5BClinical%20Features%5D%20OR%20866545%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892426"><div><strong>Abnormality of the vertebral column</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892426</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.">C4021789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any abnormality of the vertebral column.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892426">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20vertebral%20column%22%5BClinical%20Features%5D%20OR%20892426%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120594"><div><strong>Torus palatinus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120594</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.">C0266981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bony protrusion present on the midline of the hard palate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120594">Feature record</a> | <a href="/medgen?term=%22Torus%20palatinus%22%5BClinical%20Features%5D%20OR%20120594%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326597"><div><strong>Elevated serum acid phosphatase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326597</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.">C1839866</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326597">Feature record</a> | <a href="/medgen?term=%22Elevated%20serum%20acid%20phosphatase%22%5BClinical%20Features%5D%20OR%20326597%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">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326597" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated serum acid phosphatase</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torus palatinus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866545" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pelvic girdle bone morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the vertebral column</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340927" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Calvarial osteosclerosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375162" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized osteosclerosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopetrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fractures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346823" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thickened calvaria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thickened cortex of long bones</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Headache</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1633770" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular pain</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conductive hearing impairment</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1378401" ref="tree=GTR&ncbi_uid=1378401&link_uid=1378401" title="View MedGen record for 'Autosomal dominant osteopetrosis'">Autosomal dominant osteopetrosis</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=C1843330[DISCUI]&test_type=Clinical" ref="ncbi_uid=335932">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335932" target="_blank" href="/omim/603506">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335932" ref="ncbi_uid=335932">V</a></span></span><span class="TLline">Autosomal dominant osteopetrosis 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3179239[DISCUI]&test_type=Clinical" ref="ncbi_uid=465707">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=465707" target="_blank" href="/omim/166600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1127/" ref="ncbi_uid=465707">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=465707" ref="ncbi_uid=465707">V</a></span></span><span class="TLline"><a href="/medgen/465707" ref="tree=GTR&ncbi_uid=465707&link_uid=465707" title="View MedGen record for 'Autosomal dominant osteopetrosis 2'">Autosomal dominant osteopetrosis 2</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/871157" ref="tree=MeSH" title="MedGen record for Abnormal bone structure">Abnormal bone structure</a></span><ul><li><span class="TLline"><a href="/medgen/868756" ref="tree=MeSH" title="MedGen record for Abnormal bone ossification">Abnormal bone ossification</a></span><ul><li><span class="TLline"><a href="/medgen/867294" ref="tree=MeSH" title="MedGen record for Abnormality of bone mineral density">Abnormality of bone mineral density</a></span><ul><li><span class="TLline"><a href="/medgen/10502" ref="tree=MeSH" title="MedGen record for Increased bone mineral density">Increased bone mineral density</a></span><ul><li><span class="TLline"><a href="/medgen/18223" ref="tree=MeSH" title="MedGen record for Osteopetrosis">Osteopetrosis</a></span><ul><li><span class="TLline"><a href="/medgen/1378401" ref="tree=MeSH" title="MedGen record for Autosomal dominant osteopetrosis">Autosomal dominant osteopetrosis</a></span><ul><li><span class="matched_ds">Autosomal dominant osteopetrosis 1</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/35370969">Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Li X,
|
||
Wang Y,
|
||
Fu W,
|
||
Liu Y,
|
||
Zhang Z,
|
||
Wang C</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:819641.
|
||
Epub 2022 Mar 17
|
||
doi: 10.3389/fendo.2022.819641.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35370969" target="_blank">35370969</a><a href="/pmc/articles/PMC8970046" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29018903">Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butscheidt S,
|
||
Rolvien T,
|
||
Kornak U,
|
||
Schmidt FN,
|
||
Schinke T,
|
||
Amling M,
|
||
Oheim R</span><br />
|
||
<span class="medgenPMjournal">Calcif Tissue Int</span>
|
||
2018 Jan;102(1):41-52.
|
||
Epub 2017 Oct 10
|
||
doi: 10.1007/s00223-017-0332-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29018903" target="_blank">29018903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23657117">Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aggarwal S</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2013 Oct 1;528(1):41-5.
|
||
Epub 2013 May 5
|
||
doi: 10.1016/j.gene.2013.04.069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23657117" target="_blank">23657117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20307717">Hematopoietic stem cell transplantation for osteopetrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steward CG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2010 Feb;57(1):171-80.
|
||
doi: 10.1016/j.pcl.2009.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20307717" target="_blank">20307717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19232111">Osteopetrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stark Z,
|
||
Savarirayan R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2009 Feb 20;4:5.
|
||
doi: 10.1186/1750-1172-4-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19232111" target="_blank">19232111</a><a href="/pmc/articles/PMC2654865" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20osteopetrosis%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 (23)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35370969">Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Li X,
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Li X,
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
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2022;13:819641.
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Epub 2022 Mar 17
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doi: 10.3389/fendo.2022.819641.
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<span class="bold">PMID: </span><a href="/pubmed/35370969" target="_blank">35370969</a><a href="/pmc/articles/PMC8970046" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28718264">Malignant Infantile Osteopetrosis.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/28718264" target="_blank">28718264</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38261998">Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jodeh W,
|
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Katz AJ,
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Hart M,
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Warden SJ,
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Niziolek P,
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Alam I,
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Ing S,
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Polgreen LE,
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Imel EA,
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Econs MJ</span><br />
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
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2024 Jun 17;109(7):1726-1732.
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<span class="bold">PMID: </span><a href="/pubmed/38261998" target="_blank">38261998</a><a href="/pmc/articles/PMC11180502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28718264">Malignant Infantile Osteopetrosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gillani S,
|
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Abbas Z</span><br />
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<span class="medgenPMjournal">J Ayub Med Coll Abbottabad</span>
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2017 Apr-Jun;29(2):350-352.
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<span class="bold">PMID: </span><a href="/pubmed/28718264" target="_blank">28718264</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10084593">Locus heterogeneity of autosomal dominant osteopetrosis (ADO).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">White KE,
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Koller DL,
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Takacs I,
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Buckwalter KA,
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Foroud T,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20osteopetrosis%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 (30)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37349768">Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Dulski J,
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Souza J,
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Santos ML,
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Wszolek ZK</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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||
2023 Jun 22;18(1):160.
|
||
doi: 10.1186/s13023-023-02772-9.
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<span class="bold">PMID: </span><a href="/pubmed/37349768" target="_blank">37349768</a><a href="/pmc/articles/PMC10288773" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30309794">Maxillary osteomyelitis associated with osteopetrosis: Systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carvalho PHA,
|
||
Moura LB,
|
||
Real Gabrielli MF,
|
||
Cabrini Gabrielli MA,
|
||
Antonio Pereira Filho V</span><br />
|
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<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
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2018 Nov;46(11):1905-1910.
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||
Epub 2018 Sep 24
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|
||
<span class="bold">PMID: </span><a href="/pubmed/30309794" target="_blank">30309794</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20osteopetrosis%201%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
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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=C1843330%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C1843330%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (40)</a></li>
|
||
<li><a href="/gtr/tests?term=C1843330%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (14)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1843330%5bDISCUI%5d" target="_blank">See all (45)</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=607634" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2783" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autosomal%20dominant%20osteopetrosis%201" target="_blank">ClinicalTrials.gov</a></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=603506" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4041[geneid]" target="_blank">View LRP5 variations in ClinVar</a></li><li><a href="/nuccore/264681512" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=607634" 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/Osteopetrosis+autosomal+dominant+type+1/5475" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/osteopetrosis_autosomal_dominant_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Autosomal%20dominant%20osteopetrosis%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/osteopetrosis" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/4151/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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