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1210 lines
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164 KiB
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<meta name="keywords" content="C0005859, blm, bloom syndrome, bloom torre machacek syndrome, bloom's syndrome, bloom's syndromes, bloom-torre-machacek syndrome, bls, bs, bs - bloom syndrome, bsyn, congenital telangiectatic erythema, congenital telangiectatic erythema syndrome, congenital telangiectatic erythemas, disease or syndrome, erythema, congenital telangiectatic, growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability, mgrisce1, microcephaly, growth restriction, and increased sister chromatid exchange 1, telangiectatic erythema, congenital, 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="Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability. Women may be fertile but often have early menopause, and men tend to be infertile, with only one confirmed case of paternity. Serious medical complications that are more common than in the general population and that also appear at unusually early ages include cancer of a wide variety of types and anatomic sites, diabetes mellitus as a result of insulin resistance, chronic obstructive pulmonary disease, and hypothyroidism." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=2685
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ConceptID=C0005859
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-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1398/bin/bloom-Image001.gif" src-large="/books/NBK1398/bin/bloom-Image001.jpg" /></a><br /><a href="/books/NBK1398/figure/bloom.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Bloom syndrome<span class="h1sub">(BLM)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2685</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.">C0005859</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>BLM; Bloom-Torre-Machacek syndrome; Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>BS - Bloom syndrome (4434006); Bloom syndrome (4434006); Congenital telangiectatic erythema syndrome (4434006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></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="BLM - ID: 641 - NCBI Gene" href="/gene/641" class="medgenPMinfo">BLM</a> (15q26.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008876" target="_blank">MONDO:0008876</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/210900" target="_blank">210900</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=125">ORPHA125</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability. Women may be fertile but often have early menopause, and men tend to be infertile, with only one confirmed case of paternity. Serious medical complications that are more common than in the general population and that also appear at unusually early ages include cancer of a wide variety of types and anatomic sites, diabetes mellitus as a result of insulin resistance, chronic obstructive pulmonary disease, and hypothyroidism. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Bloom syndrome (BLM) is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency; photosensitive skin changes; immune deficiency; insulin resistance; increased risk for diabetes; greatly increased risk of early onset of cancer and for the development of multiple cancers; and chromosomal instability (summary by Cunniff et al., 2017).
|
||
Genetic Heterogeneity of Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange
|
||
See also MGRISCE2 (618097), caused by mutation in the TOP3A gene (601243) on chromosome 17p12. <a target="_blank" href="http://www.omim.org/entry/210900">http://www.omim.org/entry/210900</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.<br /><br />People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood.<br /><br />Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash; telangiectases can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (hypopigmentation or hyperpigmentation respectively). These patches appear on areas of the skin that are not exposed to the sun, and their development is not related to the rashes.<br /><br />People with Bloom syndrome have an increased risk of cancer. They can develop any type of cancer, but the cancers arise earlier in life than they do in the general population, and affected individuals often develop more than one type of cancer.<br /><br />Individuals with Bloom syndrome have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; and prominent nose and ears. Other features can include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system abnormalities leading to recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause at an earlier age than usual. <a target="_blank" href="https://medlineplus.gov/genetics/condition/bloom-syndrome">https://medlineplus.gov/genetics/condition/bloom-syndrome</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_2874"><div><strong>Squamous cell carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2874</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.">C0007137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of squamous cell carcinoma of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2874">Feature record</a> | <a href="/medgen?term=%22Squamous%20cell%20carcinoma%22%5BClinical%20Features%5D%20OR%202874%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9725"><div><strong>Leukemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9725</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.">C0023418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9725">Feature record</a> | <a href="/medgen?term=%22Leukemia%22%5BClinical%20Features%5D%20OR%209725%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44223"><div><strong>Lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44223</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.">C0024299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44223">Feature record</a> | <a href="/medgen?term=%22Lymphoma%22%5BClinical%20Features%5D%20OR%2044223%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2150"><div><strong>Azoospermia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2150</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.">C0004509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2150">Feature record</a> | <a href="/medgen?term=%22Azoospermia%22%5BClinical%20Features%5D%20OR%202150%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</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.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57728"><div><strong>Decreased fertility in females</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57728</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.">C0151639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57728">Feature record</a> | <a href="/medgen?term=%22Decreased%20fertility%20in%20females%22%5BClinical%20Features%5D%20OR%2057728%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52619"><div><strong>Syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52619</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.">C0039075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52619">Feature record</a> | <a href="/medgen?term=%22Syndactyly%22%5BClinical%20Features%5D%20OR%2052619%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_510636"><div><strong>Hand polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>510636</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.">C0158733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/510636">Feature record</a> | <a href="/medgen?term=%22Hand%20polydactyly%22%5BClinical%20Features%5D%20OR%20510636%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340456"><div><strong>Clinodactyly of the 5th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340456</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.">C1850049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340456">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%20of%20the%205th%20finger%22%5BClinical%20Features%5D%20OR%20340456%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65920"><div><strong>Small for gestational age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65920</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.">C0235991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65920">Feature record</a> | <a href="/medgen?term=%22Small%20for%20gestational%20age%22%5BClinical%20Features%5D%20OR%2065920%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</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.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395343"><div><strong>Postnatal growth retardation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395343</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.">C1859778</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Slow or limited growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395343">Feature record</a> | <a href="/medgen?term=%22Postnatal%20growth%20retardation%22%5BClinical%20Features%5D%20OR%20395343%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_398225"><div><strong>Hepatic steatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398225</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.">C2711227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Steatosis is a term used to denote lipid accumulation within hepatocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398225">Feature record</a> | <a href="/medgen?term=%22Hepatic%20steatosis%22%5BClinical%20Features%5D%20OR%20398225%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343309"><div><strong>Protruding ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343309</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.">C1855285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343309">Feature record</a> | <a href="/medgen?term=%22Protruding%20ear%22%5BClinical%20Features%5D%20OR%20343309%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</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.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66836"><div><strong>Abnormally high-pitched voice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66836</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.">C0241703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66836">Feature record</a> | <a href="/medgen?term=%22Abnormally%20high-pitched%20voice%22%5BClinical%20Features%5D%20OR%2066836%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871302"><div><strong>Specific learning disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871302</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.">C4025790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871302">Feature record</a> | <a href="/medgen?term=%22Specific%20learning%20disability%22%5BClinical%20Features%5D%20OR%20871302%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892798"><div><strong>Elevated hemoglobin A1c</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892798</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.">C4073162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892798">Feature record</a> | <a href="/medgen?term=%22Elevated%20hemoglobin%20A1c%22%5BClinical%20Features%5D%20OR%20892798%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65142"><div><strong>Dolichocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65142</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.">C0221358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65142">Feature record</a> | <a href="/medgen?term=%22Dolichocephaly%22%5BClinical%20Features%5D%20OR%2065142%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347616"><div><strong>Malar flattening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347616</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.">C1858085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347616">Feature record</a> | <a href="/medgen?term=%22Malar%20flattening%22%5BClinical%20Features%5D%20OR%20347616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14234"><div><strong>Bronchiectasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14234</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.">C0006267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14234">Feature record</a> | <a href="/medgen?term=%22Bronchiectasis%22%5BClinical%20Features%5D%20OR%2014234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154380"><div><strong>Recurrent upper respiratory tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154380</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.">C0581381</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154380">Feature record</a> | <a href="/medgen?term=%22Recurrent%20upper%20respiratory%20tract%20infections%22%5BClinical%20Features%5D%20OR%20154380%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196656"><div><strong>Chronic lung disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196656</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.">C0746102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196656">Feature record</a> | <a href="/medgen?term=%22Chronic%20lung%20disease%22%5BClinical%20Features%5D%20OR%20196656%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57934"><div><strong>Decreased circulating IgA concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57934</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.">C0162538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased levels of immunoglobulin A (IgA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57934">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20IgA%20concentration%22%5BClinical%20Features%5D%20OR%2057934%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116095"><div><strong>Decreased circulating total IgM</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116095</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.">C0239989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased level of immunoglobulin M (IgM) in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116095">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20total%20IgM%22%5BClinical%20Features%5D%20OR%20116095%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75808"><div><strong>Malar rash</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75808</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.">C0277942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75808">Feature record</a> | <a href="/medgen?term=%22Malar%20rash%22%5BClinical%20Features%5D%20OR%2075808%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1720114"><div><strong>Decreased circulating IgG concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720114</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.">C5234937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased level of immunoglobulin G (IgG) in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1720114">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20IgG%20concentration%22%5BClinical%20Features%5D%20OR%201720114%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41523"><div><strong>Type 2 diabetes mellitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41523</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.">C0011860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41523">Feature record</a> | <a href="/medgen?term=%22Type%202%20diabetes%20mellitus%22%5BClinical%20Features%5D%20OR%2041523%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98423"><div><strong>Prominent nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98423</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.">C0426415</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98423">Feature record</a> | <a href="/medgen?term=%22Prominent%20nose%22%5BClinical%20Features%5D%20OR%2098423%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373334"><div><strong>Narrow face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373334</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.">C1837463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373334">Feature record</a> | <a href="/medgen?term=%22Narrow%20face%22%5BClinical%20Features%5D%20OR%20373334%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342374"><div><strong>Agenesis of maxillary lateral incisor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342374</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.">C1849950</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342374">Feature record</a> | <a href="/medgen?term=%22Agenesis%20of%20maxillary%20lateral%20incisor%22%5BClinical%20Features%5D%20OR%20342374%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43787"><div><strong>Hypertrichosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43787</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.">C0020555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrichosis is increased hair growth that is abnormal in quantity or location.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43787">Feature record</a> | <a href="/medgen?term=%22Hypertrichosis%22%5BClinical%20Features%5D%20OR%2043787%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_102477"><div><strong>Hypopigmentation of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102477</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.">C0162835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction of skin color related to a decrease in melanin production and deposition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/102477">Feature record</a> | <a href="/medgen?term=%22Hypopigmentation%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%20102477%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113157"><div><strong>Cafe-au-lait spot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113157</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.">C0221263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113157">Feature record</a> | <a href="/medgen?term=%22Cafe-au-lait%20spot%22%5BClinical%20Features%5D%20OR%20113157%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65986"><div><strong>Facial erythema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65986</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.">C0239488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65986">Feature record</a> | <a href="/medgen?term=%22Facial%20erythema%22%5BClinical%20Features%5D%20OR%2065986%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87601"><div><strong>Cutaneous photosensitivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87601</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.">C0349506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87601">Feature record</a> | <a href="/medgen?term=%22Cutaneous%20photosensitivity%22%5BClinical%20Features%5D%20OR%2087601%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812508"><div><strong>Spotty hypopigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812508</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.">C3806178</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812508">Feature record</a> | <a href="/medgen?term=%22Spotty%20hypopigmentation%22%5BClinical%20Features%5D%20OR%20812508%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867272"><div><strong>Facial telangiectasia in butterfly midface distribution</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867272</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.">C4021632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867272">Feature record</a> | <a href="/medgen?term=%22Facial%20telangiectasia%20in%20butterfly%20midface%20distribution%22%5BClinical%20Features%5D%20OR%20867272%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_91280"><div><strong>Chromosome breakage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91280</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.">C0376628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91280">Feature record</a> | <a href="/medgen?term=%22Chromosome%20breakage%22%5BClinical%20Features%5D%20OR%2091280%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1631925"><div><strong>Abnormality of chromosome stability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631925</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.">C4551705</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1631925">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20chromosome%20stability%22%5BClinical%20Features%5D%20OR%201631925%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_1631925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of chromosome stability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_91280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome breakage</a></span></li></ul></li><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated hemoglobin A1c</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_342374" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agenesis of maxillary lateral incisor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373334" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98423" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent nose</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly of the 5th finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_510636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hand polydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41523" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Type 2 diabetes mellitus</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_398225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic steatosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Azoospermia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased fertility in females</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57934" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating IgA concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1720114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating IgG concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating total IgM</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malar rash</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cafe-au-lait spot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87601" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous photosensitivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65986" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial erythema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial telangiectasia in butterfly midface distribution</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrichosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_102477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypopigmentation of the skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spotty hypopigmentation</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_65142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dolichocephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malar flattening</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</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_66836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormally high-pitched voice</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871302" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Specific learning disability</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bronchiectasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic lung disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent upper respiratory tract infections</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_343309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Protruding ear</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395343" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postnatal growth retardation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small for gestational age</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9725" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Squamous cell carcinoma</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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN118946[DISCUI]&test_type=Clinical" ref="ncbi_uid=468463">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468463" ref="tree=GTR&ncbi_uid=468463&link_uid=468463" title="View MedGen record for 'Ashkenazi Jewish disorders'">Ashkenazi Jewish disorders</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=C0005859[DISCUI]&test_type=Clinical" ref="ncbi_uid=2685">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=2685" target="_blank" href="/omim/210900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1294%20OR%20NBK1398)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=2685">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=2685" ref="ncbi_uid=2685">V</a></span></span><span class="TLline">Bloom syndrome</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0010674[DISCUI]&test_type=Clinical" ref="ncbi_uid=41393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=41393" target="_blank" href="/omim/219700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1250/" ref="ncbi_uid=41393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=41393" ref="ncbi_uid=41393">V</a></span></span><span class="TLline"><a href="/medgen/41393" ref="tree=GTR&ncbi_uid=41393&link_uid=41393" title="View MedGen record for 'Cystic fibrosis'">Cystic fibrosis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0013364[DISCUI]&test_type=Clinical" ref="ncbi_uid=41678">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=41678" target="_blank" href="/omim/223900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1180/" ref="ncbi_uid=41678">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=41678" ref="ncbi_uid=41678">V</a></span></span><span class="TLline"><a href="/medgen/41678" ref="tree=GTR&ncbi_uid=41678&link_uid=41678" title="View MedGen record for 'Familial dysautonomia'">Familial dysautonomia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3468041[DISCUI]&test_type=Clinical" ref="ncbi_uid=483324">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=483324" target="_blank" href="/omim/227645">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=483324">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=483324" ref="ncbi_uid=483324">V</a></span></span><span class="TLline"><a href="/medgen/483324" ref="tree=GTR&ncbi_uid=483324&link_uid=483324" title="View MedGen record for 'Fanconi anemia complementation group C'">Fanconi anemia complementation group C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1961835[DISCUI]&test_type=Clinical" ref="ncbi_uid=409531">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409531" target="_blank" href="/omim/230800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1269/" ref="ncbi_uid=409531">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409531" ref="ncbi_uid=409531">V</a></span></span><span class="TLline"><a href="/medgen/409531" ref="tree=GTR&ncbi_uid=409531&link_uid=409531" title="View MedGen record for 'Gaucher disease type I'">Gaucher disease type I</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0238286[DISCUI]&test_type=Clinical" ref="ncbi_uid=68663">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=68663" target="_blank" href="/omim/252650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1214/" ref="ncbi_uid=68663">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=68663" ref="ncbi_uid=68663">V</a></span></span><span class="TLline"><a href="/medgen/68663" ref="tree=GTR&ncbi_uid=68663&link_uid=68663" title="View MedGen record for 'Mucolipidosis type IV'">Mucolipidosis type IV</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268242[DISCUI]&test_type=Clinical" ref="ncbi_uid=78650">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78650" target="_blank" href="/omim/257200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=78650">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78650" ref="ncbi_uid=78650">V</a></span></span><span class="TLline"><a href="/medgen/78650" ref="tree=GTR&ncbi_uid=78650&link_uid=78650" title="View MedGen record for 'Niemann-Pick disease, type A'">Niemann-Pick disease, type A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0206307[DISCUI]&test_type=Clinical" ref="ncbi_uid=61565">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=61565" target="_blank" href="/omim/271900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1234/" ref="ncbi_uid=61565">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=61565" ref="ncbi_uid=61565">V</a></span></span><span class="TLline"><a href="/medgen/61565" ref="tree=GTR&ncbi_uid=61565&link_uid=61565" title="View MedGen record for 'Spongy degeneration of central nervous system'">Spongy degeneration of central nervous system</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0039373[DISCUI]&test_type=Clinical" ref="ncbi_uid=11713">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=11713" target="_blank" href="/omim/272800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1218/" ref="ncbi_uid=11713">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=11713" ref="ncbi_uid=11713">V</a></span></span><span class="TLline"><a href="/medgen/11713" ref="tree=GTR&ncbi_uid=11713&link_uid=11713" title="View MedGen record for 'Tay-Sachs disease'">Tay-Sachs disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN120377[DISCUI]&test_type=Clinical" ref="ncbi_uid=468543">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1218/" ref="ncbi_uid=468543">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468543" ref="tree=GTR&ncbi_uid=468543&link_uid=468543" title="View MedGen record for 'Juvenile (Subacute) Hexosaminidase A Deficiency'">Juvenile (Subacute) Hexosaminidase A Deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848914[DISCUI]&test_type=Clinical" ref="ncbi_uid=336450">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336450" target="_blank" href="/omim/272800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/336450" ref="tree=GTR&ncbi_uid=336450&link_uid=336450" title="View MedGen record for 'Tay-Sachs disease, B variant, adult form'">Tay-Sachs disease, B variant, adult form</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0013423[DISCUI]&test_type=Clinical" ref="ncbi_uid=3941">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/3941" ref="tree=GTR&ncbi_uid=3941&link_uid=3941" title="View MedGen record for 'Torsion dystonia'">Torsion dystonia</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/468463" ref="tree=MeSH" title="MedGen record for Ashkenazi Jewish disorders">Ashkenazi Jewish disorders</a></span><ul><li><span class="matched_ds">Bloom syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=430&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Bloom syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39586716">Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braga BL,
|
||
da Cunha Scalco R,
|
||
Homma TK,
|
||
Freire BL,
|
||
Cellin LP,
|
||
Canton APM,
|
||
Lerario AM,
|
||
de Assis Funari MF,
|
||
de Souza V,
|
||
Bertola DR,
|
||
Malaquias AC,
|
||
Mendonca BB,
|
||
de Lima Jorge AA</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2025 Apr;107(4):441-445.
|
||
Epub 2024 Nov 25
|
||
doi: 10.1111/cge.14659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39586716" target="_blank">39586716</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30055079">Health supervision for people with Bloom syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cunniff C,
|
||
Djavid AR,
|
||
Carrubba S,
|
||
Cohen B,
|
||
Ellis NA,
|
||
Levy CF,
|
||
Jeong S,
|
||
Lederman HM,
|
||
Vogiatzi M,
|
||
Walsh MF,
|
||
Zauber AG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Sep;176(9):1872-1881.
|
||
Epub 2018 Jul 28
|
||
doi: 10.1002/ajmg.a.40374.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30055079" target="_blank">30055079</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28529015">Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyer R,
|
||
Soellner L,
|
||
Begemann M,
|
||
Dicks S,
|
||
Fekete G,
|
||
Rahner N,
|
||
Zerres K,
|
||
Elbracht M,
|
||
Eggermann T</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2017 Aug;187:206-212.e1.
|
||
Epub 2017 May 19
|
||
doi: 10.1016/j.jpeds.2017.04.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28529015" target="_blank">28529015</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22bloom%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (8)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nccn.org/professionals/physician_gls/pdf/esophageal.pdf" target="_blank">NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Esophageal and Esophagogastric Junction Cancers, 2024</a></h3>
|
||
<h3 class="nl vspace"><a href="http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Carrier-Screening-ACT-SheetAshkenazi-Jewish-Genetic-Disorders.aspx" target="_blank">American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders</a></h3>
|
||
</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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389333">Genetics of Skin Cancer (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389333" target="_blank">26389333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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/31447390">SLX4IP Antagonizes Promiscuous BLM Activity during ALT Maintenance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panier S,
|
||
Maric M,
|
||
Hewitt G,
|
||
Mason-Osann E,
|
||
Gali H,
|
||
Dai A,
|
||
Labadorf A,
|
||
Guervilly JH,
|
||
Ruis P,
|
||
Segura-Bayona S,
|
||
Belan O,
|
||
Marzec P,
|
||
Gaillard PL,
|
||
Flynn RL,
|
||
Boulton SJ</span><br />
|
||
<span class="medgenPMjournal">Mol Cell</span>
|
||
2019 Oct 3;76(1):27-43.e11.
|
||
Epub 2019 Aug 22
|
||
doi: 10.1016/j.molcel.2019.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31447390" target="_blank">31447390</a><a href="/pmc/articles/PMC6863466" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30653245">Skin Cancer Associated Genodermatoses: A Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schierbeck J,
|
||
Vestergaard T,
|
||
Bygum A</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2019 Apr 1;99(4):360-369.
|
||
doi: 10.2340/00015555-3123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30653245" target="_blank">30653245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24602044">Bloom syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora H,
|
||
Chacon AH,
|
||
Choudhary S,
|
||
McLeod MP,
|
||
Meshkov L,
|
||
Nouri K,
|
||
Izakovic J</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2014 Jul;53(7):798-802.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1111/ijd.12408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24602044" target="_blank">24602044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17630610">Genodermatoses with malignant potential.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holman JD,
|
||
Dyer JA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2007 Aug;19(4):446-54.
|
||
doi: 10.1097/MOP.0b013e3282495939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17630610" target="_blank">17630610</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3655026">Bloom's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gretzula JC,
|
||
Hevia O,
|
||
Weber PJ</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1987 Sep;17(3):479-88.
|
||
doi: 10.1016/s0190-9622(87)70233-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3655026" target="_blank">3655026</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bloom%20syndrome%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 (234)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30653245">Skin Cancer Associated Genodermatoses: A Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schierbeck J,
|
||
Vestergaard T,
|
||
Bygum A</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2019 Apr 1;99(4):360-369.
|
||
doi: 10.2340/00015555-3123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30653245" target="_blank">30653245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24602044">Bloom syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora H,
|
||
Chacon AH,
|
||
Choudhary S,
|
||
McLeod MP,
|
||
Meshkov L,
|
||
Nouri K,
|
||
Izakovic J</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2014 Jul;53(7):798-802.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1111/ijd.12408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24602044" target="_blank">24602044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17630610">Genodermatoses with malignant potential.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holman JD,
|
||
Dyer JA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2007 Aug;19(4):446-54.
|
||
doi: 10.1097/MOP.0b013e3282495939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17630610" target="_blank">17630610</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1876866">Bloom syndrome and ataxia telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Llerena JC Jr,
|
||
Murer-Orlando M</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
1991 Apr;28(2):95-103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1876866" target="_blank">1876866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6351001">Photosensitivity in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramsay CA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1983 Aug;30(4):687-99.
|
||
doi: 10.1016/s0031-3955(16)34434-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6351001" target="_blank">6351001</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bloom%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (268)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38890315">Characterization and regulation of cell cycle-independent noncanonical gene targeting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saito S,
|
||
Adachi N</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2024 Jun 18;15(1):5044.
|
||
doi: 10.1038/s41467-024-49385-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38890315" target="_blank">38890315</a><a href="/pmc/articles/PMC11189520" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37343085">BLM overexpression as a predictive biomarker for CHK1 inhibitor response in PARP inhibitor-resistant BRCA-mutant ovarian cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta N,
|
||
Huang TT,
|
||
Nair JR,
|
||
An D,
|
||
Zurcher G,
|
||
Lampert EJ,
|
||
McCoy A,
|
||
Cimino-Mathews A,
|
||
Swisher EM,
|
||
Radke MR,
|
||
Lockwood CM,
|
||
Reichel JB,
|
||
Chiang CY,
|
||
Wilson KM,
|
||
Cheng KC,
|
||
Nousome D,
|
||
Lee JM</span><br />
|
||
<span class="medgenPMjournal">Sci Transl Med</span>
|
||
2023 Jun 21;15(701):eadd7872.
|
||
doi: 10.1126/scitranslmed.add7872.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37343085" target="_blank">37343085</a><a href="/pmc/articles/PMC10758289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29022933">The rise and fall and rise again of 23andMe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Check Hayden E</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2017 Oct 11;550(7675):174-177.
|
||
doi: 10.1038/550174a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29022933" target="_blank">29022933</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27745641">Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giordano CN,
|
||
Yew YW,
|
||
Spivak G,
|
||
Lim HW</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2016 Nov;75(5):855-870.
|
||
doi: 10.1016/j.jaad.2016.03.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27745641" target="_blank">27745641</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6351001">Photosensitivity in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramsay CA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1983 Aug;30(4):687-99.
|
||
doi: 10.1016/s0031-3955(16)34434-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6351001" target="_blank">6351001</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bloom%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (69)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34538859">Two novel variants and follow-up findings in four children with Bloom syndrome from two families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kasap B,
|
||
Guclu-Geyik F,
|
||
Uludag Alkaya D,
|
||
Cetin G,
|
||
Tuysuz B</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2022 Jan 1;31(1):31-35.
|
||
doi: 10.1097/MCD.0000000000000391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34538859" target="_blank">34538859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24602044">Bloom syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora H,
|
||
Chacon AH,
|
||
Choudhary S,
|
||
McLeod MP,
|
||
Meshkov L,
|
||
Nouri K,
|
||
Izakovic J</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2014 Jul;53(7):798-802.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1111/ijd.12408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24602044" target="_blank">24602044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17630610">Genodermatoses with malignant potential.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holman JD,
|
||
Dyer JA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2007 Aug;19(4):446-54.
|
||
doi: 10.1097/MOP.0b013e3282495939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17630610" target="_blank">17630610</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3655026">Bloom's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gretzula JC,
|
||
Hevia O,
|
||
Weber PJ</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1987 Sep;17(3):479-88.
|
||
doi: 10.1016/s0190-9622(87)70233-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3655026" target="_blank">3655026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7039817">Cytogenetics of preleukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nowell PC</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet Cytogenet</span>
|
||
1982 Mar;5(3):265-78.
|
||
doi: 10.1016/0165-4608(82)90034-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7039817" target="_blank">7039817</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bloom%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (90)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38869071">YY1 is involved in homologous recombination inhibition at guanine quadruplex sites in human cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cui X,
|
||
Zhang C,
|
||
Fu C,
|
||
Hu J,
|
||
Li T,
|
||
Li L</span><br />
|
||
<span class="medgenPMjournal">Nucleic Acids Res</span>
|
||
2024 Jul 22;52(13):7401-7413.
|
||
doi: 10.1093/nar/gkae502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38869071" target="_blank">38869071</a><a href="/pmc/articles/PMC11260479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37594403">Bloom syndrome patients and mice display accelerated epigenetic aging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee J,
|
||
Zhang J,
|
||
Flanagan M,
|
||
Martinez JA,
|
||
Cunniff C,
|
||
Kucine N,
|
||
Lu AT,
|
||
Haghani A,
|
||
Gordevičius J,
|
||
Horvath S,
|
||
Chang VY</span><br />
|
||
<span class="medgenPMjournal">Aging Cell</span>
|
||
2023 Oct;22(10):e13964.
|
||
Epub 2023 Aug 18
|
||
doi: 10.1111/acel.13964.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37594403" target="_blank">37594403</a><a href="/pmc/articles/PMC10577546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37343085">BLM overexpression as a predictive biomarker for CHK1 inhibitor response in PARP inhibitor-resistant BRCA-mutant ovarian cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta N,
|
||
Huang TT,
|
||
Nair JR,
|
||
An D,
|
||
Zurcher G,
|
||
Lampert EJ,
|
||
McCoy A,
|
||
Cimino-Mathews A,
|
||
Swisher EM,
|
||
Radke MR,
|
||
Lockwood CM,
|
||
Reichel JB,
|
||
Chiang CY,
|
||
Wilson KM,
|
||
Cheng KC,
|
||
Nousome D,
|
||
Lee JM</span><br />
|
||
<span class="medgenPMjournal">Sci Transl Med</span>
|
||
2023 Jun 21;15(701):eadd7872.
|
||
doi: 10.1126/scitranslmed.add7872.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37343085" target="_blank">37343085</a><a href="/pmc/articles/PMC10758289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33736941">Bloom syndrome and the underlying causes of genetic instability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ababou M</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2021 May;133(1):35-48.
|
||
Epub 2021 Mar 10
|
||
doi: 10.1016/j.ymgme.2021.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33736941" target="_blank">33736941</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29022933">The rise and fall and rise again of 23andMe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Check Hayden E</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2017 Oct 11;550(7675):174-177.
|
||
doi: 10.1038/550174a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29022933" target="_blank">29022933</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bloom%20syndrome%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 (229)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0005859%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (68)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005859%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005859%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005859%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005859%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005859%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005859%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005859%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (93)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005859%5bDISCUI%5d&filter=method%3A3%5F22" target="_blank">Sister chromatid exchange (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005859%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (32)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0005859%5bDISCUI%5d" target="_blank">See all (123)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=210900" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=125" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Bloom%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22bloom%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Bloom%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nccn.org/professionals/physician_gls/pdf/esophageal.pdf">NCCN, 2024</a><div>NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Esophageal and Esophagogastric Junction Cancers, 2024</div></li><li><a target="_blank" href="http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Carrier-Screening-ACT-SheetAshkenazi-Jewish-Genetic-Disorders.aspx">ACMG ACT, 2011</a><div>American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=604610" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=641[geneid]" target="_blank">View BLM variations in ClinVar</a></li><li><a href="/nuccore/163965397" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=210900" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Bloom+Syndrome/879" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/bloom_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Bloom%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/bloom-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/915/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301572" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/20301471" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Bloom%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Bloom%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=4&linkpostotal=4" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=2685" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=2685" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0005859[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0005859[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=2685" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=2685" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=2685" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=2685" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=2685" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=2685" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=2685" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=2685" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=2685" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
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<div class="row">
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<div class="col-lg-12 centered-lg">
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<li>
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||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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||
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<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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<li>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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</li>
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<li>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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