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681 lines
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118 KiB
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<div class="pagination"><span title="Inactive first page of results" class="inactive page_link"><< First</span><span title="Inactive previous page of results" class="inactive page_link prev">< Prev</span><h3 class="page"><label for="pageno">Page </label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.cPage" id="pageno" type="text" class="num" sid="1" value="1" last="10" /> of 10</h3><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.Page" title="Next page of results" class="active page_link next" href="#" sid="3" page="2" accesskey="k" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.Page">Next ></a><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.Page" title="Last page of results" class="active page_link" href="#" sid="4" page="10" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.Page">Last >></a><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.CurrPage" sid="1" type="hidden" value="1" /></div>
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<div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox412713" class="ui-helper-hidden-accessible">Select item 412713</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox412713" value="412713" /><span>1.</span></div><div class="rslt"><p class="title"><a href="/medgen/412713" ref="ordinalpos=1&ncbi_uid=412713&link_uid=412713">Neuroblastoma, susceptibility to, 1</a></p><div class="supp"><p class="rprtbody"></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412713</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.">C2749485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2749485%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=412713" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=412713" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/256700" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox463619" class="ui-helper-hidden-accessible">Select item 463619</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox463619" value="463619" /><span>2.</span></div><div class="rslt"><p class="title"><a href="/medgen/463619" ref="ordinalpos=2&ncbi_uid=463619&link_uid=463619">IgA nephropathy, susceptibility to, 1</a></p><div class="supp"><p class="rprtbody"></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463619</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.">C3160719</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C3160719%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><span class="inactive">ClinVar</span></li>
|
||
<li><span class="inactive">Genes</span></li>
|
||
<li><a href="http://www.omim.org/entry/161950" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox412743" class="ui-helper-hidden-accessible">Select item 412743</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox412743" value="412743" /><span>3.</span></div><div class="rslt"><p class="title"><a href="/medgen/412743" ref="ordinalpos=3&ncbi_uid=412743&link_uid=412743">Hemolytic uremic syndrome, atypical, susceptibility to, 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412743</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.">C2749604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2749604%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=412743" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=412743" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/235400" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=412743" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox287" class="ui-helper-hidden-accessible">Select item 287</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox287" value="287" /><span>4.</span></div><div class="rslt"><p class="title"><a href="/medgen/287" ref="ordinalpos=4&ncbi_uid=287&link_uid=287">Hb SS disease</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, including the bones, spleen, liver, brain, lungs, kidneys, and joints. Dactylitis (pain and/or swelling of the hands or feet) is often the earliest manifestation of SCD. In children, the spleen can become engorged with blood cells in a "splenic sequestration." The spleen is particularly vulnerable to infarction and the majority of individuals with SCD who are not on hydroxyurea or transfusion therapy become functionally asplenic in early childhood, increasing their risk for certain types of bacterial infections, primarily encapsulated organisms. Acute chest syndrome (ACS) is a major cause of mortality in SCD. Chronic hemolysis can result in varying degrees of anemia, jaundice, cholelithiasis, and delayed growth and sexual maturation as well as activating pathways that contribute to the pathophysiology directly. Individuals with the highest rates of hemolysis are at higher risk for pulmonary artery hypertension, priapism, and leg ulcers and may be relatively protected from vaso-occlusive pain. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>287</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.">C0002895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0002895%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=287" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=287" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/603903" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=287" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox442875" class="ui-helper-hidden-accessible">Select item 442875</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox442875" value="442875" /><span>5.</span></div><div class="rslt"><p class="title"><a href="/medgen/442875" ref="ordinalpos=5&ncbi_uid=442875&link_uid=442875">Atypical hemolytic-uremic syndrome with C3 anomaly</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442875</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.">C2752037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2752037%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=442875" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=442875" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/612925" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=442875" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox414167" class="ui-helper-hidden-accessible">Select item 414167</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox414167" value="414167" /><span>6.</span></div><div class="rslt"><p class="title"><a href="/medgen/414167" ref="ordinalpos=6&ncbi_uid=414167&link_uid=414167">Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414167</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.">C2752040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2752040%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=414167" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=414167" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/612922" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=414167" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox424833" class="ui-helper-hidden-accessible">Select item 424833</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox424833" value="424833" /><span>7.</span></div><div class="rslt"><p class="title"><a href="/medgen/424833" ref="ordinalpos=7&ncbi_uid=424833&link_uid=424833">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme deficiency and prenatal onset of virilization is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The classic form is further divided into the simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (=75% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for life-threatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>424833</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.">C2936858</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2936858%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=424833" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=424833" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/201910" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=424833" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox414541" class="ui-helper-hidden-accessible">Select item 414541</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox414541" value="414541" /><span>8.</span></div><div class="rslt"><p class="title"><a href="/medgen/414541" ref="ordinalpos=8&ncbi_uid=414541&link_uid=414541">Atypical hemolytic-uremic syndrome with thrombomodulin anomaly</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414541</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.">C2752036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2752036%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=414541" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=414541" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/612926" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=414541" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox414542" class="ui-helper-hidden-accessible">Select item 414542</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox414542" value="414542" /><span>9.</span></div><div class="rslt"><p class="title"><a href="/medgen/414542" ref="ordinalpos=9&ncbi_uid=414542&link_uid=414542">Atypical hemolytic-uremic syndrome with I factor anomaly</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414542</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.">C2752039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2752039%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=414542" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=414542" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/612923" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=414542" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox416691" class="ui-helper-hidden-accessible">Select item 416691</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox416691" value="416691" /><span>10.</span></div><div class="rslt"><p class="title"><a href="/medgen/416691" ref="ordinalpos=10&ncbi_uid=416691&link_uid=416691">Atypical hemolytic-uremic syndrome with B factor anomaly</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416691</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.">C2752038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2752038%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=416691" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=416691" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/612924" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=416691" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox409531" class="ui-helper-hidden-accessible">Select item 409531</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox409531" value="409531" /><span>11.</span></div><div class="rslt"><p class="title"><a href="/medgen/409531" ref="ordinalpos=11&ncbi_uid=409531&link_uid=409531">Gaucher disease type I</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409531</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.">C1961835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1961835%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=409531" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=409531" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/230800" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=409531" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox41678" class="ui-helper-hidden-accessible">Select item 41678</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox41678" value="41678" /><span>12.</span></div><div class="rslt"><p class="title"><a href="/medgen/41678" ref="ordinalpos=12&ncbi_uid=41678&link_uid=41678">Familial dysautonomia</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41678</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.">C0013364</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0013364%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=41678" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=41678" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/223900" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=41678" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox8083" class="ui-helper-hidden-accessible">Select item 8083</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox8083" value="8083" /><span>13.</span></div><div class="rslt"><p class="title"><a href="/medgen/8083" ref="ordinalpos=13&ncbi_uid=8083&link_uid=8083">Fabry disease</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of kidney function to end-stage kidney disease (ESKD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESKD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% a-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; kidney failure, associated with ESKD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8083</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.">C0002986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0002986%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=8083" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=8083" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/301500" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=8083" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox18013" class="ui-helper-hidden-accessible">Select item 18013</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox18013" value="18013" /><span>14.</span></div><div class="rslt"><p class="title"><a href="/medgen/18013" ref="ordinalpos=14&ncbi_uid=18013&link_uid=18013">Neurofibromatosis, type 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18013</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.">C0027831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0027831%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=18013" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=18013" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/162200" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=18013" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox56452" class="ui-helper-hidden-accessible">Select item 56452</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox56452" value="56452" /><span>15.</span></div><div class="rslt"><p class="title"><a href="/medgen/56452" ref="ordinalpos=15&ncbi_uid=56452&link_uid=56452">Acute intermittent porphyria</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">An acute porphyria attack is characterized by a urine porphobilinogen (PBG)-to-creatinine ratio =10 times the upper limit of normal (ULN) and the presence of =2 porphyria manifestations (involving the visceral, peripheral, autonomic, and/or central nervous systems) persisting for >24 hours in the absence of other likely explanations. Onset of acute attacks typically occurs in the second or third decade of life. Acute attacks are more common in women than men. Although attacks in most individuals are typically caused by exposure to certain endogenous or exogenous factors, often no precipitating factor can be identified. The course of acute porphyria attacks is highly variable in an individual and between individuals. Recovery from acute porphyria attacks may occur within days; however, recovery from severe attacks that are not promptly recognized and treated may take weeks or months. The five categories of acute intermittent porphyria (AIP), caused by a heterozygous HMBS pathogenic variant, are based on the urine PBG-to-creatinine ratio and occurrence of acute attacks. Active (symptomatic) AIP: An individual who has experienced at least one acute attack within the last two years. Symptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years but chronic long-standing manifestations of acute porphyria. Asymptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years and no porphyria-related manifestations. Asymptomatic AIP: Urine PBG-to-creatinine ratio <4 times ULN and no acute attacks in the last two years but has had =1 acute attack in the past. Latent (inactive) AIP: Urine PBG-to-creatinine ratio <4 times ULN and no acute porphyria-related manifestations to date. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56452</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.">C0162565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0162565%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=56452" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=56452" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/176000" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=56452" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1648433" class="ui-helper-hidden-accessible">Select item 1648433</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox1648433" value="1648433" /><span>16.</span></div><div class="rslt"><p class="title"><a href="/medgen/1648433" ref="ordinalpos=16&ncbi_uid=1648433&link_uid=1648433">X-linked Alport syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648433</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.">C4746986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4746986%5bDISCUI%5d" target="_blank">GTR</a></li>
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||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1648433" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1648433" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/301050" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1648433" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox698415" class="ui-helper-hidden-accessible">Select item 698415</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox698415" value="698415" /><span>17.</span></div><div class="rslt"><p class="title"><a href="/medgen/698415" ref="ordinalpos=17&ncbi_uid=698415&link_uid=698415">Autosomal recessive inherited pseudoxanthoma elasticum</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>698415</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.">C1275116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1275116%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=698415" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=698415" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/264800" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=698415" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox422452" class="ui-helper-hidden-accessible">Select item 422452</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox422452" value="422452" /><span>18.</span></div><div class="rslt"><p class="title"><a href="/medgen/422452" ref="ordinalpos=18&ncbi_uid=422452&link_uid=422452">Bardet-Biedl syndrome 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl Syndrome BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21. The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes. Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001). Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422452</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.">C2936862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2936862%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=422452" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=422452" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/209900" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=422452" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox9958" class="ui-helper-hidden-accessible">Select item 9958</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox9958" value="9958" /><span>19.</span></div><div class="rslt"><p class="title"><a href="/medgen/9958" ref="ordinalpos=19&ncbi_uid=9958&link_uid=9958">Multiple endocrine neoplasia type 2A</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, familial medullary thyroid carcinoma (FMTC, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features of MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9958</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.">C0025268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0025268%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=9958" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=9958" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/171400" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=9958" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox415885" class="ui-helper-hidden-accessible">Select item 415885</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox415885" value="415885" /><span>20.</span></div><div class="rslt"><p class="title"><a href="/medgen/415885" ref="ordinalpos=20&ncbi_uid=415885&link_uid=415885">Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Glycogen storage disease type I (GSD I) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSD Ib are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSD I include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and kidney failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>415885</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.">C2919796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2919796%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=415885" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=415885" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/232200" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=415885" target="_blank"><i>GeneReviews</i></a></li></ul>
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<textarea name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="medgen">"Hypertensive disorder"[Clinical Features] OR 6969[uid]</textarea>
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<a class="htb" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d5c677cde49f3df7bace65">"Hypertensive disorder"[Clinical Features] OR 6969[uid] <span class="number">(191)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d5c676cde49f3df7bace0c">"Congestive heart failure"[Clinical Features] OR 9169[uid] <span class="number">(138)</span></a>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d5c67667c23b31e08f79c4">"Cardiac arrhythmia"[Clinical Features] OR 2039[uid] <span class="number">(58)</span></a>
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d5c6762f30673f7bd263f6">"Angina pectoris"[Clinical Features] OR 1929[uid] <span class="number">(12)</span></a>
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<div class="tertiary">MedGen</div>
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<div class="tertiary">MedGen</div>
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