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<meta name="keywords" content="C3469527, disease or syndrome, fancg, fanconi anaemia complementation group type g, fanconi anemia complementation group g, fanconi anemia complementation group type g, fanconi anemia group g, fanconi anemia, complementation group g, fanconi anemia, complementation group type g, 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="Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=854017
|
||
ConceptID=C3469527
|
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-->
|
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Fanconi anemia complementation group G<span class="h1sub">(FANCG)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854017</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.">C3469527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Fanconi anemia group G</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="FANCG - ID: 2189 - NCBI Gene" href="/gene/2189" class="medgenPMinfo">FANCG</a> (9p13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013565" target="_blank">MONDO:0013565</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614082" target="_blank">614082</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1401" target="_blank">Fanconi Anemia</a></div><div>Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1401#fa.Summary" target="NBK1401">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1401#fa.Diagnosis" target="NBK1401">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1401#fa.Clinical_Characteristics" target="NBK1401">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1401#fa.Genetically_Related_Allelic_Disorders" target="NBK1401">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1401#fa.Differential_Diagnosis" target="NBK1401">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1401#fa.Management" target="NBK1401">Management</a> | <a class="medgenPMinfo" href="/books/NBK1401#fa.Genetic_Counseling" target="NBK1401">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1401#fa.Resources" target="NBK1401">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1401#fa.Molecular_Genetics" target="NBK1401">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1401#fa.Chapter_Notes" target="NBK1401">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1401#fa.References" target="NBK1401">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Parinda A Mehta | Christen Ebens <a href="/books/NBK1401" target="NBK1401" title="NCBI Bookshelf: Fanconi Anemia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).
|
||
For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. <a target="_blank" href="http://www.omim.org/entry/614082">http://www.omim.org/entry/614082</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_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_10231"><div><strong>Myelodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10231</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.">C0026985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10231">Feature record</a> | <a href="/medgen?term=%22Myelodysplasia%22%5BClinical%20Features%5D%20OR%2010231%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107901"><div><strong>Thumb deformity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107901</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.">C0575897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal structure of the first digit of the hand.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107901">Feature record</a> | <a href="/medgen?term=%22Thumb%20deformity%22%5BClinical%20Features%5D%20OR%20107901%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_1526"><div><strong>Anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1526</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.">C0002871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in erythrocytes volume or hemoglobin concentration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1526">Feature record</a> | <a href="/medgen?term=%22Anemia%22%5BClinical%20Features%5D%20OR%201526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%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_163121"><div><strong>Neutropenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163121</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.">C0853697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low number of neutrophils in the peripheral blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163121">Feature record</a> | <a href="/medgen?term=%22Neutropenia%22%5BClinical%20Features%5D%20OR%20163121%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_396266"><div><strong>Cafe au lait spots, multiple</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396266</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.">C1861975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of six or more cafe-au-lait spots.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396266">Feature record</a> | <a href="/medgen?term=%22Cafe%20au%20lait%20spots%2C%20multiple%22%5BClinical%20Features%5D%20OR%20396266%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10033"><div><strong>Microphthalmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10033</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.">C0026010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10033">Feature record</a> | <a href="/medgen?term=%22Microphthalmia%22%5BClinical%20Features%5D%20OR%2010033%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></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_1526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</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_107901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thumb deformity</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia</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_163121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutropenia</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_396266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cafe au lait spots, multiple</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_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">Growth abnormality</span><ul><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></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_10231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myelodysplasia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0015625[DISCUI]&test_type=Clinical" ref="ncbi_uid=41967">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/NBK1401/" ref="ncbi_uid=41967">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=41967" ref="ncbi_uid=41967">V</a></span></span><span class="TLline"><a href="/medgen/41967" ref="tree=GTR&ncbi_uid=41967&link_uid=41967" title="View MedGen record for 'Fanconi anemia'">Fanconi anemia</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=C3469521[DISCUI]&test_type=Clinical" ref="ncbi_uid=483333">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=483333" target="_blank" href="/omim/227650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=483333">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=483333" ref="ncbi_uid=483333">V</a></span></span><span class="TLline"><a href="/medgen/483333" ref="tree=GTR&ncbi_uid=483333&link_uid=483333" title="View MedGen record for 'Fanconi anemia complementation group A'">Fanconi anemia complementation group A</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341624" target="_blank" href="/omim/227650">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/341624" ref="tree=GTR&ncbi_uid=341624&link_uid=341624" title="View MedGen record for 'Fanconi anemia, Estren-Dameshek variant'">Fanconi anemia, Estren-Dameshek variant</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=C1845292[DISCUI]&test_type=Clinical" ref="ncbi_uid=336901">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336901" target="_blank" href="/omim/300514">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=336901">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336901" ref="ncbi_uid=336901">V</a></span></span><span class="TLline"><a href="/medgen/336901" ref="tree=GTR&ncbi_uid=336901&link_uid=336901" title="View MedGen record for 'Fanconi anemia complementation group B'">Fanconi anemia complementation group B</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=C1838457[DISCUI]&test_type=Clinical" ref="ncbi_uid=325420">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325420" target="_blank" href="/omim/600185">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1294%20OR%20NBK1401)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=325420">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325420" ref="ncbi_uid=325420">V</a></span></span><span class="TLline"><a href="/medgen/325420" ref="tree=GTR&ncbi_uid=325420&link_uid=325420" title="View MedGen record for 'Fanconi anemia complementation group D1'">Fanconi anemia complementation group D1</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=C3160738[DISCUI]&test_type=Clinical" ref="ncbi_uid=463627">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463627" target="_blank" href="/omim/227646">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=463627">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463627" ref="ncbi_uid=463627">V</a></span></span><span class="TLline"><a href="/medgen/463627" ref="tree=GTR&ncbi_uid=463627&link_uid=463627" title="View MedGen record for 'Fanconi anemia complementation group D2'">Fanconi anemia complementation group D2</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=C3160739[DISCUI]&test_type=Clinical" ref="ncbi_uid=463628">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463628" target="_blank" href="/omim/600901">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=463628">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463628" ref="ncbi_uid=463628">V</a></span></span><span class="TLline"><a href="/medgen/463628" ref="tree=GTR&ncbi_uid=463628&link_uid=463628" title="View MedGen record for 'Fanconi anemia complementation group E'">Fanconi anemia complementation group E</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=C3469526[DISCUI]&test_type=Clinical" ref="ncbi_uid=854016">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854016" target="_blank" href="/omim/603467">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=854016">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854016" ref="ncbi_uid=854016">V</a></span></span><span class="TLline"><a href="/medgen/854016" ref="tree=GTR&ncbi_uid=854016&link_uid=854016" title="View MedGen record for 'Fanconi anemia complementation group F'">Fanconi anemia complementation group F</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3469527[DISCUI]&test_type=Clinical" ref="ncbi_uid=854017">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854017" target="_blank" href="/omim/602956">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=854017">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854017" ref="ncbi_uid=854017">V</a></span></span><span class="TLline">Fanconi anemia complementation group G</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836861[DISCUI]&test_type=Clinical" ref="ncbi_uid=323016">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=323016" target="_blank" href="/omim/609053">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=323016">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=323016" ref="ncbi_uid=323016">V</a></span></span><span class="TLline"><a href="/medgen/323016" ref="tree=GTR&ncbi_uid=323016&link_uid=323016" title="View MedGen record for 'Fanconi anemia complementation group I'">Fanconi anemia complementation group 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=C1836860[DISCUI]&test_type=Clinical" ref="ncbi_uid=323015">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=323015" target="_blank" href="/omim/605882">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=323015">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=323015" ref="ncbi_uid=323015">V</a></span></span><span class="TLline"><a href="/medgen/323015" ref="tree=GTR&ncbi_uid=323015&link_uid=323015" title="View MedGen record for 'Fanconi anemia complementation group J'">Fanconi anemia complementation group J</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=C3469528[DISCUI]&test_type=Clinical" ref="ncbi_uid=854018">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854018" target="_blank" href="/omim/608111">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=854018">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854018" ref="ncbi_uid=854018">V</a></span></span><span class="TLline"><a href="/medgen/854018" ref="tree=GTR&ncbi_uid=854018&link_uid=854018" title="View MedGen record for 'Fanconi anemia complementation group L'">Fanconi anemia complementation group L</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=C1835817[DISCUI]&test_type=Clinical" ref="ncbi_uid=372133">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372133" target="_blank" href="/omim/610355">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=372133">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372133" ref="ncbi_uid=372133">V</a></span></span><span class="TLline"><a href="/medgen/372133" ref="tree=GTR&ncbi_uid=372133&link_uid=372133" title="View MedGen record for 'Fanconi anemia complementation group N'">Fanconi anemia complementation group N</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=C3150653[DISCUI]&test_type=Clinical" ref="ncbi_uid=462003">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462003" target="_blank" href="/omim/602774">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=462003">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462003" ref="ncbi_uid=462003">V</a></span></span><span class="TLline"><a href="/medgen/462003" ref="tree=GTR&ncbi_uid=462003&link_uid=462003" title="View MedGen record for 'Fanconi anemia complementation group O'">Fanconi anemia complementation group O</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=C3469542[DISCUI]&test_type=Clinical" ref="ncbi_uid=854020">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854020" target="_blank" href="/omim/613278">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=854020">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854020" ref="ncbi_uid=854020">V</a></span></span><span class="TLline"><a href="/medgen/854020" ref="tree=GTR&ncbi_uid=854020&link_uid=854020" title="View MedGen record for 'Fanconi anemia complementation group P'">Fanconi anemia complementation group P</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=C3469529[DISCUI]&test_type=Clinical" ref="ncbi_uid=854019">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/NBK1401/" ref="ncbi_uid=854019">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854019" ref="ncbi_uid=854019">V</a></span></span><span class="TLline"><a href="/medgen/854019" ref="tree=GTR&ncbi_uid=854019&link_uid=854019" title="View MedGen record for 'Fanconi anemia, complementation group M'">Fanconi anemia, complementation group M</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/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/82774" ref="tree=MeSH" title="MedGen record for DNA repair disease">DNA repair disease</a></span><ul><li><span class="TLline"><a href="/medgen/41967" ref="tree=MeSH" title="MedGen record for Fanconi anemia">Fanconi anemia</a></span><ul><li><span class="matched_ds">Fanconi anemia complementation group G</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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/31751677">Single-Molecule Sequencing: A New Approach for Preimplantation Testing and Noninvasive Prenatal Diagnosis Confirmation of Fetal Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rechitsky S,
|
||
Kuliev A,
|
||
San Ramon G,
|
||
Tur-Kaspa I,
|
||
Wang Y,
|
||
Wang W,
|
||
Wu X,
|
||
Wang L,
|
||
Leigh D,
|
||
Cram DS</span><br />
|
||
<span class="medgenPMjournal">J Mol Diagn</span>
|
||
2020 Feb;22(2):220-227.
|
||
Epub 2019 Nov 18
|
||
doi: 10.1016/j.jmoldx.2019.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31751677" target="_blank">31751677</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fanconi%20anemia%20complementation%20group%20g%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.fanconi.org/explore/clinical-care-guidelines" target="_blank">Fanconi Anemia Clinical Care Guidelines, Fifth Edition.</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"></h3><h3 class="nl vspace"><a href="http://www.fanconi.org/images/uploads/other/Guidelines_for_Diagnosis_and_Management.pdf" target="_blank">Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management (3rd Ed.), 2008 (See 2020 Update)</a></h3>
|
||
</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/39562502">Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramírez MJ,
|
||
Pujol R,
|
||
Minguillón J,
|
||
Bogliolo M,
|
||
Persico I,
|
||
Cavero D,
|
||
de la Cal A,
|
||
Río P,
|
||
Navarro S,
|
||
Casado JA,
|
||
Bailador A,
|
||
de la Fuente AS,
|
||
de Heredia ML,
|
||
Almazán F,
|
||
Antelo ML,
|
||
Argilés B,
|
||
Badell I,
|
||
Baragaño M,
|
||
Beléndez C,
|
||
Bermúdez M,
|
||
Bernués M,
|
||
Buedo MI,
|
||
Carrasco E,
|
||
Català A,
|
||
Costa D,
|
||
Cuesta I,
|
||
Fernandez-Delgado R,
|
||
Fernández-Teijeiro A,
|
||
Figuera Á,
|
||
García M,
|
||
Gondra A,
|
||
González M,
|
||
Muñiz SG,
|
||
Hernández-Rodríguez I,
|
||
Ibañez F,
|
||
Kelleher NJ,
|
||
Lendínez F,
|
||
López M,
|
||
López-Almaraz R,
|
||
Marchante I,
|
||
Mendoza C,
|
||
Nieto J,
|
||
Ojeda E,
|
||
Payán-Pernía S,
|
||
Peláez I,
|
||
de Soto IP,
|
||
Portugal R,
|
||
Ramos-Arroyo MA,
|
||
Regueiro A,
|
||
Rodríguez A,
|
||
Rosell J,
|
||
Saez R,
|
||
Sánchez J,
|
||
Sánchez M,
|
||
Senent M,
|
||
Tapia M,
|
||
Trujillo-Quintero JP,
|
||
Vagace JM,
|
||
Verdú-Amorós J,
|
||
Verdugo V,
|
||
Vidales I,
|
||
Villarreal J,
|
||
Díaz-de-Heredia C,
|
||
Sevilla J,
|
||
Bueren JA,
|
||
Surrallés J</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2025 Feb;100(2):272-284.
|
||
Epub 2024 Nov 19
|
||
doi: 10.1002/ajh.27520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39562502" target="_blank">39562502</a><a href="/pmc/articles/PMC11705201" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33394227">Severe telomere shortening in Fanconi anemia complementation group L.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah A,
|
||
George M,
|
||
Dhangar S,
|
||
Rajendran A,
|
||
Mohan S,
|
||
Vundinti BR</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2021 Jan;48(1):585-593.
|
||
Epub 2021 Jan 4
|
||
doi: 10.1007/s11033-020-06101-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33394227" target="_blank">33394227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29891926">Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velimezi G,
|
||
Robinson-Garcia L,
|
||
Muñoz-Martínez F,
|
||
Wiegant WW,
|
||
Ferreira da Silva J,
|
||
Owusu M,
|
||
Moder M,
|
||
Wiedner M,
|
||
Rosenthal SB,
|
||
Fisch KM,
|
||
Moffat J,
|
||
Menche J,
|
||
van Attikum H,
|
||
Jackson SP,
|
||
Loizou JI</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2018 Jun 11;9(1):2280.
|
||
doi: 10.1038/s41467-018-04649-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29891926" target="_blank">29891926</a><a href="/pmc/articles/PMC5996029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27546841">Pancreatic Cancer: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yabar CS,
|
||
Winter JM</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2016 Sep;45(3):429-45.
|
||
doi: 10.1016/j.gtc.2016.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27546841" target="_blank">27546841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25132264">K63-linked ubiquitination of FANCG is required for its association with the Rap80-BRCA1 complex to modulate homologous recombination repair of DNA interstand crosslinks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu B,
|
||
Yan K,
|
||
Li L,
|
||
Lin M,
|
||
Zhang S,
|
||
He Q,
|
||
Zheng D,
|
||
Yang H,
|
||
Shao G</span><br />
|
||
<span class="medgenPMjournal">Oncogene</span>
|
||
2015 May 28;34(22):2867-78.
|
||
Epub 2014 Aug 18
|
||
doi: 10.1038/onc.2014.229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25132264" target="_blank">25132264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20anemia%20complementation%20group%20G%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 (124)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33394227">Severe telomere shortening in Fanconi anemia complementation group L.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah A,
|
||
George M,
|
||
Dhangar S,
|
||
Rajendran A,
|
||
Mohan S,
|
||
Vundinti BR</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2021 Jan;48(1):585-593.
|
||
Epub 2021 Jan 4
|
||
doi: 10.1007/s11033-020-06101-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33394227" target="_blank">33394227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29891926">Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velimezi G,
|
||
Robinson-Garcia L,
|
||
Muñoz-Martínez F,
|
||
Wiegant WW,
|
||
Ferreira da Silva J,
|
||
Owusu M,
|
||
Moder M,
|
||
Wiedner M,
|
||
Rosenthal SB,
|
||
Fisch KM,
|
||
Moffat J,
|
||
Menche J,
|
||
van Attikum H,
|
||
Jackson SP,
|
||
Loizou JI</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2018 Jun 11;9(1):2280.
|
||
doi: 10.1038/s41467-018-04649-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29891926" target="_blank">29891926</a><a href="/pmc/articles/PMC5996029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27546841">Pancreatic Cancer: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yabar CS,
|
||
Winter JM</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2016 Sep;45(3):429-45.
|
||
doi: 10.1016/j.gtc.2016.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27546841" target="_blank">27546841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24300640">Fanconi anaemia in black South African patients heterozygous for the FANCG c.637-643delTACCGCC founder mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wainstein T,
|
||
Kerr R,
|
||
Mitchell CL,
|
||
Madaree S,
|
||
Essop FB,
|
||
Vorster E,
|
||
Wainwright R,
|
||
Poole J,
|
||
Krause A</span><br />
|
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<span class="medgenPMjournal">S Afr Med J</span>
|
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2013 Oct 11;103(12 Suppl 1):970-3.
|
||
doi: 10.7196/samj.7215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24300640" target="_blank">24300640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17010390">Four human FANCG polymorphic variants show normal biological function in hamster CHO cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hinz JM,
|
||
Nham PB,
|
||
Yamada NA,
|
||
Tebbs RS,
|
||
Salazar EP,
|
||
Hinz AK,
|
||
Mohrenweiser HW,
|
||
Jones IM,
|
||
Thompson LH</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
2006 Dec 1;602(1-2):34-42.
|
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Epub 2006 Sep 28
|
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doi: 10.1016/j.mrfmmm.2006.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17010390" target="_blank">17010390</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20anemia%20complementation%20group%20G%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 (51)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39562502">Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ramírez MJ,
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Pujol R,
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Minguillón J,
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Bogliolo M,
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Persico I,
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Cavero D,
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de la Cal A,
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Río P,
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Navarro S,
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Casado JA,
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Bailador A,
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de la Fuente AS,
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de Heredia ML,
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Almazán F,
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Antelo ML,
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Argilés B,
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Badell I,
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Baragaño M,
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Beléndez C,
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Bermúdez M,
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Bernués M,
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Buedo MI,
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Carrasco E,
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Català A,
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Costa D,
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Cuesta I,
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Fernandez-Delgado R,
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Fernández-Teijeiro A,
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Figuera Á,
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García M,
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Gondra A,
|
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González M,
|
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Muñiz SG,
|
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Hernández-Rodríguez I,
|
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Ibañez F,
|
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Kelleher NJ,
|
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Lendínez F,
|
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López M,
|
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López-Almaraz R,
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Marchante I,
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Mendoza C,
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Nieto J,
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Ojeda E,
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Payán-Pernía S,
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Peláez I,
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de Soto IP,
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Portugal R,
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Ramos-Arroyo MA,
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Regueiro A,
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Rodríguez A,
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Rosell J,
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Saez R,
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Sánchez J,
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Sánchez M,
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Senent M,
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Tapia M,
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Trujillo-Quintero JP,
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Vagace JM,
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Verdú-Amorós J,
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Verdugo V,
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Vidales I,
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Villarreal J,
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Díaz-de-Heredia C,
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Sevilla J,
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Bueren JA,
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Surrallés J</span><br />
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<span class="medgenPMjournal">Am J Hematol</span>
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2025 Feb;100(2):272-284.
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Epub 2024 Nov 19
|
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doi: 10.1002/ajh.27520.
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<span class="bold">PMID: </span><a href="/pubmed/39562502" target="_blank">39562502</a><a href="/pmc/articles/PMC11705201" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/32762026">The identification of six risk genes for ovarian cancer platinum response based on global network algorithm and verification analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Xing L,
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Mi W,
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Zhang Y,
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Tian S,
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Zhang Y,
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Qi R,
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Lou G,
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2020 Sep;24(17):9839-9852.
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<span class="bold">PMID: </span><a href="/pubmed/32762026" target="_blank">32762026</a><a href="/pmc/articles/PMC7520306" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27546841">Pancreatic Cancer: A Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yabar CS,
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Winter JM</span><br />
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<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
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2016 Sep;45(3):429-45.
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<span class="bold">PMID: </span><a href="/pubmed/27546841" target="_blank">27546841</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24300640">Fanconi anaemia in black South African patients heterozygous for the FANCG c.637-643delTACCGCC founder mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wainstein T,
|
||
Kerr R,
|
||
Mitchell CL,
|
||
Madaree S,
|
||
Essop FB,
|
||
Vorster E,
|
||
Wainwright R,
|
||
Poole J,
|
||
Krause A</span><br />
|
||
<span class="medgenPMjournal">S Afr Med J</span>
|
||
2013 Oct 11;103(12 Suppl 1):970-3.
|
||
doi: 10.7196/samj.7215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24300640" target="_blank">24300640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16243825">In vivo therapeutic responses contingent on Fanconi anemia/BRCA2 status of the tumor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Heijden MS,
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Brody JR,
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Dezentje DA,
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Gallmeier E,
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Cunningham SC,
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Swartz MJ,
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DeMarzo AM,
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Offerhaus GJ,
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Isacoff WH,
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Hruban RH,
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Kern SE</span><br />
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<span class="medgenPMjournal">Clin Cancer Res</span>
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2005 Oct 15;11(20):7508-15.
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doi: 10.1158/1078-0432.CCR-05-1048.
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<span class="bold">PMID: </span><a href="/pubmed/16243825" target="_blank">16243825</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20anemia%20complementation%20group%20G%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39562502">Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramírez MJ,
|
||
Pujol R,
|
||
Minguillón J,
|
||
Bogliolo M,
|
||
Persico I,
|
||
Cavero D,
|
||
de la Cal A,
|
||
Río P,
|
||
Navarro S,
|
||
Casado JA,
|
||
Bailador A,
|
||
de la Fuente AS,
|
||
de Heredia ML,
|
||
Almazán F,
|
||
Antelo ML,
|
||
Argilés B,
|
||
Badell I,
|
||
Baragaño M,
|
||
Beléndez C,
|
||
Bermúdez M,
|
||
Bernués M,
|
||
Buedo MI,
|
||
Carrasco E,
|
||
Català A,
|
||
Costa D,
|
||
Cuesta I,
|
||
Fernandez-Delgado R,
|
||
Fernández-Teijeiro A,
|
||
Figuera Á,
|
||
García M,
|
||
Gondra A,
|
||
González M,
|
||
Muñiz SG,
|
||
Hernández-Rodríguez I,
|
||
Ibañez F,
|
||
Kelleher NJ,
|
||
Lendínez F,
|
||
López M,
|
||
López-Almaraz R,
|
||
Marchante I,
|
||
Mendoza C,
|
||
Nieto J,
|
||
Ojeda E,
|
||
Payán-Pernía S,
|
||
Peláez I,
|
||
de Soto IP,
|
||
Portugal R,
|
||
Ramos-Arroyo MA,
|
||
Regueiro A,
|
||
Rodríguez A,
|
||
Rosell J,
|
||
Saez R,
|
||
Sánchez J,
|
||
Sánchez M,
|
||
Senent M,
|
||
Tapia M,
|
||
Trujillo-Quintero JP,
|
||
Vagace JM,
|
||
Verdú-Amorós J,
|
||
Verdugo V,
|
||
Vidales I,
|
||
Villarreal J,
|
||
Díaz-de-Heredia C,
|
||
Sevilla J,
|
||
Bueren JA,
|
||
Surrallés J</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2025 Feb;100(2):272-284.
|
||
Epub 2024 Nov 19
|
||
doi: 10.1002/ajh.27520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39562502" target="_blank">39562502</a><a href="/pmc/articles/PMC11705201" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35216452">Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reyes P,
|
||
García-de Teresa B,
|
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Juárez U,
|
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Pérez-Villatoro F,
|
||
Fiesco-Roa MO,
|
||
Rodríguez A,
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Molina B,
|
||
Villarreal-Molina MT,
|
||
Meléndez-Zajgla J,
|
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Carnevale A,
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Torres L,
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Frias S</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
|
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2022 Feb 20;23(4)
|
||
doi: 10.3390/ijms23042334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35216452" target="_blank">35216452</a><a href="/pmc/articles/PMC8877758" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33394227">Severe telomere shortening in Fanconi anemia complementation group L.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah A,
|
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George M,
|
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Dhangar S,
|
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Rajendran A,
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Mohan S,
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Vundinti BR</span><br />
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<span class="medgenPMjournal">Mol Biol Rep</span>
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2021 Jan;48(1):585-593.
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Epub 2021 Jan 4
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doi: 10.1007/s11033-020-06101-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33394227" target="_blank">33394227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21750350">Areca nut induces miR-23a and inhibits repair of DNA double-strand breaks by targeting FANCG.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsai YS,
|
||
Lin CS,
|
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Chiang SL,
|
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Lee CH,
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Lee KW,
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Ko YC</span><br />
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<span class="medgenPMjournal">Toxicol Sci</span>
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2011 Oct;123(2):480-90.
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Epub 2011 Jul 12
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doi: 10.1093/toxsci/kfr182.
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<span class="bold">PMID: </span><a href="/pubmed/21750350" target="_blank">21750350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15192709">Chemosensitizing tumor cells by targeting the Fanconi anemia pathway with an adenovirus overexpressing dominant-negative FANCA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrer M,
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de Winter JP,
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Mastenbroek DC,
|
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Curiel DT,
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Gerritsen WR,
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Giaccone G,
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Kruyt FA</span><br />
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<span class="medgenPMjournal">Cancer Gene Ther</span>
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2004 Aug;11(8):539-46.
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doi: 10.1038/sj.cgt.7700734.
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<span class="bold">PMID: </span><a href="/pubmed/15192709" target="_blank">15192709</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20anemia%20complementation%20group%20G%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 (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34360546">Promyelocytic Leukemia Proteins Regulate Fanconi Anemia Gene Expression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Munkhjargal A,
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Kim MJ,
|
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Kim DY,
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Jeon YJ,
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Kee YH,
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Kim LK,
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||
Kim YH</span><br />
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||
<span class="medgenPMjournal">Int J Mol Sci</span>
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||
2021 Jul 21;22(15)
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||
doi: 10.3390/ijms22157782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34360546" target="_blank">34360546</a><a href="/pmc/articles/PMC8346011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33394227">Severe telomere shortening in Fanconi anemia complementation group L.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah A,
|
||
George M,
|
||
Dhangar S,
|
||
Rajendran A,
|
||
Mohan S,
|
||
Vundinti BR</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2021 Jan;48(1):585-593.
|
||
Epub 2021 Jan 4
|
||
doi: 10.1007/s11033-020-06101-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33394227" target="_blank">33394227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24989076">Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantere T,
|
||
Haanpää M,
|
||
Hanenberg H,
|
||
Schleutker J,
|
||
Kallioniemi A,
|
||
Kähkönen M,
|
||
Parto K,
|
||
Avela K,
|
||
Aittomäki K,
|
||
von Koskull H,
|
||
Hartikainen JM,
|
||
Kosma VM,
|
||
Laasanen SL,
|
||
Mannermaa A,
|
||
Pylkäs K,
|
||
Winqvist R</span><br />
|
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<span class="medgenPMjournal">Clin Genet</span>
|
||
2015 Jul;88(1):68-73.
|
||
Epub 2014 Jul 30
|
||
doi: 10.1111/cge.12447.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24989076" target="_blank">24989076</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21750350">Areca nut induces miR-23a and inhibits repair of DNA double-strand breaks by targeting FANCG.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsai YS,
|
||
Lin CS,
|
||
Chiang SL,
|
||
Lee CH,
|
||
Lee KW,
|
||
Ko YC</span><br />
|
||
<span class="medgenPMjournal">Toxicol Sci</span>
|
||
2011 Oct;123(2):480-90.
|
||
Epub 2011 Jul 12
|
||
doi: 10.1093/toxsci/kfr182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21750350" target="_blank">21750350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17010390">Four human FANCG polymorphic variants show normal biological function in hamster CHO cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hinz JM,
|
||
Nham PB,
|
||
Yamada NA,
|
||
Tebbs RS,
|
||
Salazar EP,
|
||
Hinz AK,
|
||
Mohrenweiser HW,
|
||
Jones IM,
|
||
Thompson LH</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
2006 Dec 1;602(1-2):34-42.
|
||
Epub 2006 Sep 28
|
||
doi: 10.1016/j.mrfmmm.2006.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17010390" target="_blank">17010390</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20anemia%20complementation%20group%20G%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 (41)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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|
||
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<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=C3469527%5bDISCUI%5d&filter=method%3A3%5F21" target="_blank">Chromosome breakage studies (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3469527%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
|
||
<li><a href="/gtr/tests?term=C3469527%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3469527%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3469527%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3469527%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3469527%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C3469527%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (43)</a></li>
|
||
<li><a href="/gtr/tests?term=C3469527%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (12)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3469527%5bDISCUI%5d" target="_blank">See all (52)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_119">
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<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>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=614082" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Fanconi%20anemia%20complementation%20group%20G" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fanconi%20anemia%20complementation%20group%20g%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(%22Fanconi%20anemia%20complementation%20group%20G%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.fanconi.org/explore/clinical-care-guidelines">FARF, 2020</a><div>Fanconi Anemia Clinical Care Guidelines, Fifth Edition.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/fanconi_anemia_complementation_group_g" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Fanconi%20anemia%20complementation%20group%20G" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15753/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301575" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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<a href="/pubmed?term=Fanconi%20anemia%20complementation%20group%20G%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=854017" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d631682f30673f7b29736b">Fanconi anemia complementation group G</a>
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