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<meta name="keywords" content="C0268141, disease or syndrome, ercc5, ercc5 xeroderma pigmentosum, ercc5-related xeroderma pigmentosum, xeroderma pigmentosum 7, xeroderma pigmentosum caused by mutation in ercc5, xeroderma pigmentosum complementation group g, xeroderma pigmentosum group g, xeroderma pigmentosum group type g, xeroderma pigmentosum type 7, xeroderma pigmentosum vii, xeroderma pigmentosum, complementation group g, xeroderma pigmentosum, complementation group type g, xeroderma pigmentosum, group g, xeroderma pigmentosum, group g/cockayne syndrome, xeroderma pigmentosum, type g/cockayne syndrome, xp group g, xp, group g, xp-g, xp7, xpg, xpgc, 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="Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=75657
|
||
ConceptID=C0268141
|
||
-->
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||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1397/bin/xp-Image002.gif" src-large="/books/NBK1397/bin/xp-Image002.jpg" /></a><br /><a href="/books/NBK1397/figure/xp.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1397/bin/xp-Image001.gif" src-large="/books/NBK1397/bin/xp-Image001.jpg" /></a><br /><a href="/books/NBK1397/figure/xp.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Xeroderma pigmentosum, group G<span class="h1sub">(XPG)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75657</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.">C0268141</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>ERCC5-Related Xeroderma Pigmentosum; Xeroderma pigmentosum complementation group G; Xeroderma pigmentosum type 7; XERODERMA PIGMENTOSUM VII; XP, GROUP G; XPG</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Xeroderma pigmentosum group G (36454001); Xeroderma pigmentosum, group G (36454001)</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="ERCC5 - ID: 2073 - NCBI Gene" href="/gene/2073" class="medgenPMinfo">ERCC5</a> (13q33.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010216" target="_blank">MONDO:0010216</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/278780" target="_blank">278780</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1397" target="_blank">Xeroderma Pigmentosum</a></div><div>Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years). [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/NBK1397#xp.Summary" target="NBK1397">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1397#xp.Diagnosis" target="NBK1397">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1397#xp.Clinical_Characteristics" target="NBK1397">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1397#xp.Genetically_Related_Allelic_Disorders" target="NBK1397">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1397#xp.Differential_Diagnosis" target="NBK1397">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1397#xp.Management" target="NBK1397">Management</a> | <a class="medgenPMinfo" href="/books/NBK1397#xp.Genetic_Counseling" target="NBK1397">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1397#xp.Resources" target="NBK1397">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1397#xp.Molecular_Genetics" target="NBK1397">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1397#xp.Chapter_Notes" target="NBK1397">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1397#xp.References" target="NBK1397">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Kenneth H Kraemer | John J DiGiovanna | Deborah Tamura <a href="/books/NBK1397" target="NBK1397" title="NCBI Bookshelf: Xeroderma Pigmentosum">view full author information</a></div></div>
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||
</div>
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||
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||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />For a general description of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400). Complementation group G has one of the smallest series of cases (Arlett et al., 1980). <a target="_blank" href="http://www.omim.org/entry/278780">http://www.omim.org/entry/278780</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Researchers have identified at least eight genetic forms of xeroderma pigmentosum: complementation group A (XP-A) through complementation group G (XP-G), plus a variant type (XP-V). The types are distinguished by their genetic cause. All of the types increase the risk of skin cancer, although some are more likely than others to be associated with neurological abnormalities.<br /><br />About 30 percent of people with xeroderma pigmentosum develop progressive neurological abnormalities in addition to problems involving the skin and eyes. These abnormalities can include hearing loss, poor coordination, difficulty walking, movement problems, loss of intellectual function, difficulty swallowing and talking, and seizures. When these neurological problems occur, they tend to worsen with time.<br /><br />The eyes of people with xeroderma pigmentosum may be painfully sensitive to UVR (photophobia). If the eyes are not protected from UVR, they may become bloodshot and irritated, and the clear front covering of the eyes (the cornea) may become cloudy. In some people, the eyelashes fall out and the eyelids may be thin and turn abnormally inward or outward. In addition to an increased risk of cancer on the surface of the eye, xeroderma pigmentosum is associated with noncancerous growths on the eye. Many of these eye abnormalities can impair vision.<br /><br />Individuals with xeroderma pigmentosum may experience early menopause.<br /><br />Without protection from the sun and other sources of UVR, most people with xeroderma pigmentosum develop multiple skin cancers during their lifetime. These cancers occur most often on portions of the body that are exposed to the sun, including the face, the lips, the eyelids, the surface of the eyes, the scalp, and the tip of the tongue. Studies suggest that people with xeroderma pigmentosum may also have an increased risk of some internal cancers, including brain tumors, thyroid cancer, and blood cancers. Additionally, affected individuals who smoke cigarettes have a significantly increased risk of lung cancer.<br /><br />People with xeroderma pigmentosum are 10,000 times more likely to develop non-melanoma skin cancer and up to 2,000 times more likely to develop melanoma skin cancer compared to individuals without this condition. The types of skin cancer that can develop include basal cell carcinoma, squamous cell carcinoma, and melanoma. Most commonly, the first skin cancer appears in affected individuals before age 10. <br /><br />By age 2, almost all children with xeroderma pigmentosum develop freckling of the skin in sun-exposed areas (such as the face, arms, and lips); this type of freckling rarely occurs in young children without the disorder. In affected individuals, exposure to sunlight often causes dry skin (xeroderma) and changes in skin coloring (pigmentation). This combination of features gives the condition its name.<br /><br />The signs of xeroderma pigmentosum usually appear in infancy or early childhood. About half of affected children develop a severe sunburn after spending just a few minutes in the sun. The sunburn causes redness and blistering that can last for weeks. However, some children with xeroderma pigmentosum can tan normally. <br /><br />Xeroderma pigmentosum, commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet radiation (UVR), which is present in sunlight and may also be found in some types of artificial lighting. This condition mostly affects the eyes and areas of skin exposed to the sun. Xeroderma pigmentosum is associated with an increased risk of UVR-induced cancers. People with this condition often experience premature aging. Some affected individuals also have problems involving the nervous system. <a target="_blank" href="https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum">https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_675590"><div><strong>Pes cavus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675590</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.">C0728829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/675590">Feature record</a> | <a href="/medgen?term=%22Pes%20cavus%22%5BClinical%20Features%5D%20OR%20675590%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_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854616"><div><strong>Infantile spasms</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854616</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.">C3887898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854616">Feature record</a> | <a href="/medgen?term=%22Infantile%20spasms%22%5BClinical%20Features%5D%20OR%20854616%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_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_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_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_368469"><div><strong>Defective DNA repair after ultraviolet radiation damage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>368469</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.">C1968564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/368469">Feature record</a> | <a href="/medgen?term=%22Defective%20DNA%20repair%20after%20ultraviolet%20radiation%20damage%22%5BClinical%20Features%5D%20OR%20368469%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_368469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Defective DNA repair after ultraviolet radiation damage</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_675590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes cavus</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_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><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 integument</span><ul><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></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">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile spasms</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</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><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></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=C0043346[DISCUI]&test_type=Clinical" ref="ncbi_uid=21943">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/NBK1397/" ref="ncbi_uid=21943">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=21943" ref="ncbi_uid=21943">V</a></span></span><span class="TLline"><a href="/medgen/21943" ref="tree=GTR&ncbi_uid=21943&link_uid=21943" title="View MedGen record for 'Xeroderma pigmentosum'">Xeroderma pigmentosum</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=CN119607[DISCUI]&test_type=Clinical" ref="ncbi_uid=468518">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/NBK1397/" ref="ncbi_uid=468518">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468518" ref="tree=GTR&ncbi_uid=468518&link_uid=468518" title="View MedGen record for 'ERCC1-Related Xeroderma Pigmentosum'">ERCC1-Related Xeroderma Pigmentosum</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=C0268135[DISCUI]&test_type=Clinical" ref="ncbi_uid=82775">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82775" target="_blank" href="/omim/278700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1397/" ref="ncbi_uid=82775">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82775" ref="ncbi_uid=82775">V</a></span></span><span class="TLline"><a href="/medgen/82775" ref="tree=GTR&ncbi_uid=82775&link_uid=82775" title="View MedGen record for 'Xeroderma pigmentosum group A'">Xeroderma pigmentosum group 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=C0268136[DISCUI]&test_type=Clinical" ref="ncbi_uid=78643">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78643" target="_blank" href="/omim/610651">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1397/" ref="ncbi_uid=78643">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78643" ref="ncbi_uid=78643">V</a></span></span><span class="TLline"><a href="/medgen/78643" ref="tree=GTR&ncbi_uid=78643&link_uid=78643" title="View MedGen record for 'Xeroderma pigmentosum group B'">Xeroderma pigmentosum group B</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 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/196713" ref="tree=GTR&ncbi_uid=196713&link_uid=196713" title="View MedGen record for 'Cockayne syndrome type 3'">Cockayne syndrome type 3</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=C1848410[DISCUI]&test_type=Clinical" ref="ncbi_uid=376352">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376352" target="_blank" href="/omim/278750">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1397/" ref="ncbi_uid=376352">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376352" ref="ncbi_uid=376352">V</a></span></span><span class="TLline"><a href="/medgen/376352" ref="tree=GTR&ncbi_uid=376352&link_uid=376352" title="View MedGen record for 'Xeroderma pigmentosum variant type'">Xeroderma pigmentosum variant type</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=C2752147[DISCUI]&test_type=Clinical" ref="ncbi_uid=416702">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416702" target="_blank" href="/omim/278720">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1397/" ref="ncbi_uid=416702">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=416702" ref="ncbi_uid=416702">V</a></span></span><span class="TLline"><a href="/medgen/416702" ref="tree=GTR&ncbi_uid=416702&link_uid=416702" title="View MedGen record for 'Xeroderma pigmentosum, group C'">Xeroderma pigmentosum, 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=C0268138[DISCUI]&test_type=Clinical" ref="ncbi_uid=75656">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75656" target="_blank" href="/omim/126340">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1397/" ref="ncbi_uid=75656">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75656" ref="ncbi_uid=75656">V</a></span></span><span class="TLline"><a href="/medgen/75656" ref="tree=GTR&ncbi_uid=75656&link_uid=75656" title="View MedGen record for 'Xeroderma pigmentosum, group D'">Xeroderma pigmentosum, group D</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=C1848411[DISCUI]&test_type=Clinical" ref="ncbi_uid=341219">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341219" target="_blank" href="/omim/278740">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1397/" ref="ncbi_uid=341219">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341219" ref="ncbi_uid=341219">V</a></span></span><span class="TLline"><a href="/medgen/341219" ref="tree=GTR&ncbi_uid=341219&link_uid=341219" title="View MedGen record for 'Xeroderma pigmentosum, group E'">Xeroderma pigmentosum, 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=C0268140[DISCUI]&test_type=Clinical" ref="ncbi_uid=120612">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=120612" target="_blank" href="/omim/278760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1397/" ref="ncbi_uid=120612">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=120612" ref="ncbi_uid=120612">V</a></span></span><span class="TLline"><a href="/medgen/120612" ref="tree=GTR&ncbi_uid=120612&link_uid=120612" title="View MedGen record for 'Xeroderma pigmentosum, group F'">Xeroderma pigmentosum, 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=C0268141[DISCUI]&test_type=Clinical" ref="ncbi_uid=75657">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75657" target="_blank" href="/omim/133530">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1397/" ref="ncbi_uid=75657">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75657" ref="ncbi_uid=75657">V</a></span></span><span class="TLline">Xeroderma pigmentosum, group G</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/1842360" ref="tree=MeSH" title="MedGen record for Autosomal recessive cerebellar ataxia due to a DNA repair defect">Autosomal recessive cerebellar ataxia due to a DNA repair defect</a></span><ul><li><span class="TLline"><a href="/medgen/21943" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum">Xeroderma pigmentosum</a></span><ul><li><span class="matched_ds">Xeroderma pigmentosum, group G</span></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/28314991">XPG genetic polymorphisms and clinical outcome of patients with advanced non-small cell lung cancer under platinum-based treatment: a meta-analysis of 12 studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiang T,
|
||
Kang X,
|
||
Gong Z,
|
||
Bai W,
|
||
Chen C,
|
||
Zhang W</span><br />
|
||
<span class="medgenPMjournal">Cancer Chemother Pharmacol</span>
|
||
2017 Apr;79(4):791-800.
|
||
Epub 2017 Mar 17
|
||
doi: 10.1007/s00280-017-3280-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28314991" target="_blank">28314991</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24700531">A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drury S,
|
||
Boustred C,
|
||
Tekman M,
|
||
Stanescu H,
|
||
Kleta R,
|
||
Lench N,
|
||
Chitty LS,
|
||
Scott RH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Jul;164A(7):1777-83.
|
||
Epub 2014 Apr 3
|
||
doi: 10.1002/ajmg.a.36506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24700531" target="_blank">24700531</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22xeroderma%20pigmentosum%2C%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 (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28796034">The association between XPG polymorphisms and cancer susceptibility: Evidence from observational studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han C,
|
||
Huang X,
|
||
Hua R,
|
||
Song S,
|
||
Lyu L,
|
||
Ta N,
|
||
Zhu J,
|
||
Zhang P</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2017 Aug;96(32):e7467.
|
||
doi: 10.1097/MD.0000000000007467.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28796034" target="_blank">28796034</a><a href="/pmc/articles/PMC5556200" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24135642">Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amr K,
|
||
Messaoud O,
|
||
El Darouti M,
|
||
Abdelhak S,
|
||
El-Kamah G</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2014 Jan 1;533(1):52-6.
|
||
Epub 2013 Oct 14
|
||
doi: 10.1016/j.gene.2013.09.125.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24135642" target="_blank">24135642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9096355">A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouspikel T,
|
||
Lalle P,
|
||
Leadon SA,
|
||
Cooper PK,
|
||
Clarkson SG</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1997 Apr 1;94(7):3116-21.
|
||
doi: 10.1073/pnas.94.7.3116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9096355" target="_blank">9096355</a><a href="/pmc/articles/PMC20331" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8092696">Defective repair of ionizing radiation damage in Cockayne's syndrome and xeroderma pigmentosum group G.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper PK,
|
||
Leadon SA</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
1994 Jul 29;726:330-2.
|
||
doi: 10.1111/j.1749-6632.1994.tb52842.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8092696" target="_blank">8092696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8078765">Human xeroderma pigmentosum group G gene encodes a DNA endonuclease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Habraken Y,
|
||
Sung P,
|
||
Prakash L,
|
||
Prakash S</span><br />
|
||
<span class="medgenPMjournal">Nucleic Acids Res</span>
|
||
1994 Aug 25;22(16):3312-6.
|
||
doi: 10.1093/nar/22.16.3312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8078765" target="_blank">8078765</a><a href="/pmc/articles/PMC523723" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%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 (60)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37667072">Xeroderma pigmentosum group G with pellagroid rash: A rare presentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garg S,
|
||
Garg K,
|
||
Thakur V,
|
||
Behera B</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2024 Jan-Feb;41(1):150-152.
|
||
Epub 2023 Sep 4
|
||
doi: 10.1111/pde.15416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37667072" target="_blank">37667072</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28314991">XPG genetic polymorphisms and clinical outcome of patients with advanced non-small cell lung cancer under platinum-based treatment: a meta-analysis of 12 studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiang T,
|
||
Kang X,
|
||
Gong Z,
|
||
Bai W,
|
||
Chen C,
|
||
Zhang W</span><br />
|
||
<span class="medgenPMjournal">Cancer Chemother Pharmacol</span>
|
||
2017 Apr;79(4):791-800.
|
||
Epub 2017 Mar 17
|
||
doi: 10.1007/s00280-017-3280-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28314991" target="_blank">28314991</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24135642">Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amr K,
|
||
Messaoud O,
|
||
El Darouti M,
|
||
Abdelhak S,
|
||
El-Kamah G</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2014 Jan 1;533(1):52-6.
|
||
Epub 2013 Oct 14
|
||
doi: 10.1016/j.gene.2013.09.125.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24135642" target="_blank">24135642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16094634">Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cui Y,
|
||
Morgenstern H,
|
||
Greenland S,
|
||
Tashkin DP,
|
||
Mao J,
|
||
Cao W,
|
||
Cozen W,
|
||
Mack TM,
|
||
Zhang ZF</span><br />
|
||
<span class="medgenPMjournal">Int J Cancer</span>
|
||
2006 Feb 1;118(3):714-20.
|
||
doi: 10.1002/ijc.21413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16094634" target="_blank">16094634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9096355">A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouspikel T,
|
||
Lalle P,
|
||
Leadon SA,
|
||
Cooper PK,
|
||
Clarkson SG</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1997 Apr 1;94(7):3116-21.
|
||
doi: 10.1073/pnas.94.7.3116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9096355" target="_blank">9096355</a><a href="/pmc/articles/PMC20331" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%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 (26)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38871024">Faulty Gap Filling in Nucleotide Excision Repair Leads to Double-Strand Break Formation in Senescent Cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suzuki T,
|
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Komaki Y,
|
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Amano M,
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Ando S,
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Shobu K,
|
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Ibuki Y</span><br />
|
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<span class="medgenPMjournal">J Invest Dermatol</span>
|
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2025 Jan;145(1):32-41.e11.
|
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Epub 2024 Jun 11
|
||
doi: 10.1016/j.jid.2024.04.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38871024" target="_blank">38871024</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31664956">Exploring new potential role of DDB2 by host cell reactivation assay in human tumorigenic cells.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bassi E,
|
||
Perucca P,
|
||
Guardamagna I,
|
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Prosperi E,
|
||
Stivala LA,
|
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Cazzalini O</span><br />
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<span class="medgenPMjournal">BMC Cancer</span>
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2019 Oct 29;19(1):1013.
|
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doi: 10.1186/s12885-019-6258-0.
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<span class="bold">PMID: </span><a href="/pubmed/31664956" target="_blank">31664956</a><a href="/pmc/articles/PMC6819583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/29148016">Association of XPG gene rs751402 polymorphism with gastric cancer risk: a meta-analysis in the Chinese population.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Liang J,
|
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Xu YY,
|
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Zhang C,
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Xia QR</span><br />
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<span class="medgenPMjournal">Int J Biol Markers</span>
|
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2018 May;33(2):174-179.
|
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Epub 2017 Sep 11
|
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doi: 10.5301/ijbm.5000313.
|
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<span class="bold">PMID: </span><a href="/pubmed/29148016" target="_blank">29148016</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/28416771">XPG gene polymorphisms and cancer susceptibility: evidence from 47 studies.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Huang J,
|
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Liu X,
|
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Tang LL,
|
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Long JT,
|
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Zhu J,
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Hua RX,
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Li J</span><br />
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<span class="medgenPMjournal">Oncotarget</span>
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2017 Jun 6;8(23):37263-37277.
|
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doi: 10.18632/oncotarget.16146.
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<span class="bold">PMID: </span><a href="/pubmed/28416771" target="_blank">28416771</a><a href="/pmc/articles/PMC5513715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/28314991">XPG genetic polymorphisms and clinical outcome of patients with advanced non-small cell lung cancer under platinum-based treatment: a meta-analysis of 12 studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiang T,
|
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Kang X,
|
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Gong Z,
|
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Bai W,
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Chen C,
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Zhang W</span><br />
|
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<span class="medgenPMjournal">Cancer Chemother Pharmacol</span>
|
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2017 Apr;79(4):791-800.
|
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Epub 2017 Mar 17
|
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doi: 10.1007/s00280-017-3280-2.
|
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<span class="bold">PMID: </span><a href="/pubmed/28314991" target="_blank">28314991</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33393424">XPG gene polymorphisms and glioma susceptibility: a two-centre case-control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan L,
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Hu WM,
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Chen K,
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Shi Q,
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Lin A,
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Chen HT,
|
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Zhuo ZJ,
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Zeng L</span><br />
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<span class="medgenPMjournal">Br J Biomed Sci</span>
|
||
2021 Jul;78(3):135-140.
|
||
Epub 2021 Feb 5
|
||
doi: 10.1080/09674845.2020.1870308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33393424" target="_blank">33393424</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31558863">Association of XPG rs2094258 polymorphism with gastric cancer prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang XQ,
|
||
Terry PD,
|
||
Li Y,
|
||
Zhang Y,
|
||
Kou WJ,
|
||
Wang MX</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2019 Sep 14;25(34):5152-5161.
|
||
doi: 10.3748/wjg.v25.i34.5152.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31558863" target="_blank">31558863</a><a href="/pmc/articles/PMC6747292" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28314991">XPG genetic polymorphisms and clinical outcome of patients with advanced non-small cell lung cancer under platinum-based treatment: a meta-analysis of 12 studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiang T,
|
||
Kang X,
|
||
Gong Z,
|
||
Bai W,
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||
Chen C,
|
||
Zhang W</span><br />
|
||
<span class="medgenPMjournal">Cancer Chemother Pharmacol</span>
|
||
2017 Apr;79(4):791-800.
|
||
Epub 2017 Mar 17
|
||
doi: 10.1007/s00280-017-3280-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28314991" target="_blank">28314991</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26887052">XPG rs2296147 T>C polymorphism predicted clinical outcome in colorectal cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang F,
|
||
Zhang SD,
|
||
Xu HM,
|
||
Zhu JH,
|
||
Hua RX,
|
||
Xue WQ,
|
||
Li XZ,
|
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Wang TM,
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He J,
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Jia WH</span><br />
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<span class="medgenPMjournal">Oncotarget</span>
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2016 Mar 8;7(10):11724-32.
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doi: 10.18632/oncotarget.7352.
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<span class="bold">PMID: </span><a href="/pubmed/26887052" target="_blank">26887052</a><a href="/pmc/articles/PMC4905506" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/16094634">Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cui Y,
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Morgenstern H,
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Greenland S,
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Tashkin DP,
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Mao J,
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Cao W,
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Cozen W,
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Mack TM,
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Zhang ZF</span><br />
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<span class="medgenPMjournal">Int J Cancer</span>
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2006 Feb 1;118(3):714-20.
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doi: 10.1002/ijc.21413.
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<span class="bold">PMID: </span><a href="/pubmed/16094634" target="_blank">16094634</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%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 (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31664956">Exploring new potential role of DDB2 by host cell reactivation assay in human tumorigenic cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bassi E,
|
||
Perucca P,
|
||
Guardamagna I,
|
||
Prosperi E,
|
||
Stivala LA,
|
||
Cazzalini O</span><br />
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<span class="medgenPMjournal">BMC Cancer</span>
|
||
2019 Oct 29;19(1):1013.
|
||
doi: 10.1186/s12885-019-6258-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31664956" target="_blank">31664956</a><a href="/pmc/articles/PMC6819583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28796034">The association between XPG polymorphisms and cancer susceptibility: Evidence from observational studies.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Han C,
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Huang X,
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Hua R,
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Song S,
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||
Lyu L,
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||
Ta N,
|
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Zhu J,
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Zhang P</span><br />
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<span class="medgenPMjournal">Medicine (Baltimore)</span>
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2017 Aug;96(32):e7467.
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||
doi: 10.1097/MD.0000000000007467.
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||
<span class="bold">PMID: </span><a href="/pubmed/28796034" target="_blank">28796034</a><a href="/pmc/articles/PMC5556200" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28314991">XPG genetic polymorphisms and clinical outcome of patients with advanced non-small cell lung cancer under platinum-based treatment: a meta-analysis of 12 studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiang T,
|
||
Kang X,
|
||
Gong Z,
|
||
Bai W,
|
||
Chen C,
|
||
Zhang W</span><br />
|
||
<span class="medgenPMjournal">Cancer Chemother Pharmacol</span>
|
||
2017 Apr;79(4):791-800.
|
||
Epub 2017 Mar 17
|
||
doi: 10.1007/s00280-017-3280-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28314991" target="_blank">28314991</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26887052">XPG rs2296147 T>C polymorphism predicted clinical outcome in colorectal cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang F,
|
||
Zhang SD,
|
||
Xu HM,
|
||
Zhu JH,
|
||
Hua RX,
|
||
Xue WQ,
|
||
Li XZ,
|
||
Wang TM,
|
||
He J,
|
||
Jia WH</span><br />
|
||
<span class="medgenPMjournal">Oncotarget</span>
|
||
2016 Mar 8;7(10):11724-32.
|
||
doi: 10.18632/oncotarget.7352.
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||
<span class="bold">PMID: </span><a href="/pubmed/26887052" target="_blank">26887052</a><a href="/pmc/articles/PMC4905506" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21287534">ERCC5/XPG, ERCC1, and BRCA1 gene status and clinical benefit of trabectedin in patients with soft tissue sarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Italiano A,
|
||
Laurand A,
|
||
Laroche A,
|
||
Casali P,
|
||
Sanfilippo R,
|
||
Le Cesne A,
|
||
Judson I,
|
||
Blay JY,
|
||
Ray-Coquard I,
|
||
Bui B,
|
||
Coindre JM,
|
||
Nieto A,
|
||
Tercero JC,
|
||
Jimeno J,
|
||
Robert J,
|
||
Pourquier P</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
2011 Aug 1;117(15):3445-56.
|
||
Epub 2011 Feb 1
|
||
doi: 10.1002/cncr.25925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21287534" target="_blank">21287534</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%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 (16)</a></div></div>
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268141%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (27)</a></li>
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<li><a href="/gtr/tests?term=C0268141%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
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<li><a href="/gtr/tests?term=C0268141%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (37)</a></li>
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<li><a href="/gtr/tests?term=C0268141%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268141%5bDISCUI%5d" target="_blank">See all (39)</a></total></li>
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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=(%22xeroderma%20pigmentosum%2C%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(%22Xeroderma%20pigmentosum%2C%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></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=133530" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2073[geneid]" target="_blank">View ERCC5 variations in ClinVar</a></li><li><a href="/nuccore/166795290" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=278780" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Xeroderma+pigmentosum+type+7/7565" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/xeroderma_pigmentosum_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=Xeroderma%20pigmentosum,%20group%20G" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5629/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=75657" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d5b27167c23b31e0443265">Xeroderma pigmentosum, group G</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d5b26867c23b31e044145e">Xeroderma pigmentosum, group E</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d5b26084f3725e59c0dda0">Xeroderma pigmentosum, group C</a>
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