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<meta name="keywords" content="C1848411, congenital abnormality, ddb2, ddb2-related xeroderma pigmentosum, disease or syndrome, xeroderma pigmentosum 5, xeroderma pigmentosum group e, xeroderma pigmentosum group type e, xeroderma pigmentosum v, xeroderma pigmentosum, complementation group e, xeroderma pigmentosum, complementation group e, ddb-negative form, xeroderma pigmentosum, complementation group type e, xeroderma pigmentosum, group e, xeroderma pigmentosum, group e, ddb-negative subtype, xeroderma pigmentosum, type 5, xp group e, xp, group e, xp-e, xp5, xpe, 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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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
|
||
UID=341219
|
||
ConceptID=C1848411
|
||
-->
|
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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 E<span class="h1sub">(XPE)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341219</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1848411</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DDB2-Related Xeroderma Pigmentosum; XERODERMA PIGMENTOSUM V; Xeroderma pigmentosum, complementation group E; Xeroderma pigmentosum, complementation group E, DDB-negative form; Xeroderma pigmentosum, group E, DDB-negative subtype; XP, GROUP E; XPE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Xeroderma pigmentosum group E (56048001); Xeroderma pigmentosum, group E (56048001)</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="DDB2 - ID: 1643 - NCBI Gene" href="/gene/1643" class="medgenPMinfo">DDB2</a> (11p11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010213" target="_blank">MONDO:0010213</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/278740" target="_blank">278740</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>
|
||
</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 NCBI curation</strong><br />Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); and Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). 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).</div><div class="mgSection"><strong>From OMIM</strong><br />Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by hypersensitivity of the skin to sunlight, a high frequency of cutaneous malignancies, and defective repair of ultraviolet (UV)-induced pyrimidine dimers in the DNA (summary by Kondo et al., 1988).
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||
For general phenotypic information on xeroderma pigmentosum, see 278700. <a target="_blank" href="http://www.omim.org/entry/278740">http://www.omim.org/entry/278740</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Individuals with xeroderma pigmentosum may experience early menopause.<br /><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 />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>
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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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_9944"><div><strong>Melanoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9944</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.">C0025202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.\n\nMelanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.\n\nMost melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).\n\nA large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9944">Feature record</a> | <a href="/medgen?term=%22Melanoma%22%5BClinical%20Features%5D%20OR%209944%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_107512"><div><strong>Squamous cell carcinoma of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107512</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.">C0553723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107512">Feature record</a> | <a href="/medgen?term=%22Squamous%20cell%20carcinoma%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%20107512%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1648304"><div><strong>Skin basal cell carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648304</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.">C4721806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of a basal cell carcinoma of the skin.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648304">Feature record</a> | <a href="/medgen?term=%22Skin%20basal%20cell%20carcinoma%22%5BClinical%20Features%5D%20OR%201648304%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_43220"><div><strong>Photophobia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43220</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.">C0085636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/43220">Feature record</a> | <a href="/medgen?term=%22Photophobia%22%5BClinical%20Features%5D%20OR%2043220%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1093"><div><strong>Conjunctivitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1093</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.">C0009763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Inflammation of the conjunctiva.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1093">Feature record</a> | <a href="/medgen?term=%22Conjunctivitis%22%5BClinical%20Features%5D%20OR%201093%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_44013"><div><strong>Keratitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44013</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.">C0022568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Inflammation of the cornea.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/44013">Feature record</a> | <a href="/medgen?term=%22Keratitis%22%5BClinical%20Features%5D%20OR%2044013%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_4448"><div><strong>Ectropion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4448</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.">C0013592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An outward turning (eversion) or rotation of the eyelid margin.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/4448">Feature record</a> | <a href="/medgen?term=%22Ectropion%22%5BClinical%20Features%5D%20OR%204448%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_41813"><div><strong>Entropion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41813</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.">C0014390</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/41813">Feature record</a> | <a href="/medgen?term=%22Entropion%22%5BClinical%20Features%5D%20OR%2041813%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_21088"><div><strong>Telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21088</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.">C0039446</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/21088">Feature record</a> | <a href="/medgen?term=%22Telangiectasia%22%5BClinical%20Features%5D%20OR%2021088%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_101793"><div><strong>Dermal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101793</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.">C0151514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Partial or complete wasting (atrophy) of the skin.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/101793">Feature record</a> | <a href="/medgen?term=%22Dermal%20atrophy%22%5BClinical%20Features%5D%20OR%20101793%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<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>
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<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>
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<div class="divPopper rprt" id="clin_97905"><div><strong>Poikiloderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97905</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.">C0392777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/97905">Feature record</a> | <a href="/medgen?term=%22Poikiloderma%22%5BClinical%20Features%5D%20OR%2097905%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<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">
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<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 head or neck</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectropion</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Entropion</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conjunctivitis</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87601" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous photosensitivity</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermal atrophy</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_97905" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poikiloderma</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21088" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Photophobia</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Melanoma</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin basal cell carcinoma</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107512" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Squamous cell carcinoma of the skin</a></span></li></ul></li></ul></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=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="matched_ds"><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">Xeroderma pigmentosum, group E</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="TLclosed"><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"><a href="/medgen/75657" ref="tree=GTR&ncbi_uid=75657&link_uid=75657" title="View MedGen record for 'Xeroderma pigmentosum, group G'">Xeroderma pigmentosum, group G</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/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 E</span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=20366&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Xeroderma pigmentosum, group E</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32530099">Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karagün E,
|
||
Eroz R,
|
||
Gamsızkan M,
|
||
Baysak S,
|
||
Eyup Y,
|
||
Ozcan Y</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2020 Aug;59(8):989-996.
|
||
Epub 2020 Jun 12
|
||
doi: 10.1111/ijd.14957.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32530099" target="_blank">32530099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23610444">DDB2 suppresses epithelial-to-mesenchymal transition in colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roy N,
|
||
Bommi PV,
|
||
Bhat UG,
|
||
Bhattacharjee S,
|
||
Elangovan I,
|
||
Li J,
|
||
Patra KC,
|
||
Kopanja D,
|
||
Blunier A,
|
||
Benya R,
|
||
Bagchi S,
|
||
Raychaudhuri P</span><br />
|
||
<span class="medgenPMjournal">Cancer Res</span>
|
||
2013 Jun 15;73(12):3771-82.
|
||
Epub 2013 Apr 22
|
||
doi: 10.1158/0008-5472.CAN-12-4069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23610444" target="_blank">23610444</a><a href="/pmc/articles/PMC3686976" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16325378">Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itoh T</span><br />
|
||
<span class="medgenPMjournal">J Dermatol Sci</span>
|
||
2006 Feb;41(2):87-96.
|
||
Epub 2005 Dec 1
|
||
doi: 10.1016/j.jdermsci.2005.10.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16325378" target="_blank">16325378</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8538642">Isolation of a cDNA encoding a UV-damaged DNA binding factor defective in xeroderma pigmentosum group E cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hwang BJ,
|
||
Liao JC,
|
||
Chu G</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1996 Jan 2;362(1):105-17.
|
||
doi: 10.1016/0921-8777(95)00040-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8538642" target="_blank">8538642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8371985">A 127 kDa component of a UV-damaged DNA-binding complex, which is defective in some xeroderma pigmentosum group E patients, is homologous to a slime mold protein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takao M,
|
||
Abramic M,
|
||
Moos M Jr,
|
||
Otrin VR,
|
||
Wootton JC,
|
||
McLenigan M,
|
||
Levine AS,
|
||
Protic M</span><br />
|
||
<span class="medgenPMjournal">Nucleic Acids Res</span>
|
||
1993 Aug 25;21(17):4111-8.
|
||
doi: 10.1093/nar/21.17.4111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8371985" target="_blank">8371985</a><a href="/pmc/articles/PMC310015" 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%20E%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 (45)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37573316">Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Souza Timoteo AR,
|
||
Pinheiro de Almeida IC,
|
||
Yurchenko AA,
|
||
de Miranda Henriques SR,
|
||
de Souza Segundo P,
|
||
Rajabi F,
|
||
Nikolaev S,
|
||
Petta TB</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2023 Aug 12;16(1):186.
|
||
doi: 10.1186/s12920-023-01622-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37573316" target="_blank">37573316</a><a href="/pmc/articles/PMC10422713" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32530099">Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karagün E,
|
||
Eroz R,
|
||
Gamsızkan M,
|
||
Baysak S,
|
||
Eyup Y,
|
||
Ozcan Y</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2020 Aug;59(8):989-996.
|
||
Epub 2020 Jun 12
|
||
doi: 10.1111/ijd.14957.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32530099" target="_blank">32530099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32228487">Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang R,
|
||
Kong Q,
|
||
Duan Y,
|
||
Li W,
|
||
Sang H</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Mar 30;21(1):67.
|
||
doi: 10.1186/s12881-020-00997-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32228487" target="_blank">32228487</a><a href="/pmc/articles/PMC7106656" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16325378">Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itoh T</span><br />
|
||
<span class="medgenPMjournal">J Dermatol Sci</span>
|
||
2006 Feb;41(2):87-96.
|
||
Epub 2005 Dec 1
|
||
doi: 10.1016/j.jdermsci.2005.10.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16325378" target="_blank">16325378</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9584159">Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rapić Otrin V,
|
||
Kuraoka I,
|
||
Nardo T,
|
||
McLenigan M,
|
||
Eker AP,
|
||
Stefanini M,
|
||
Levine AS,
|
||
Wood RD</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Biol</span>
|
||
1998 Jun;18(6):3182-90.
|
||
doi: 10.1128/MCB.18.6.3182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9584159" target="_blank">9584159</a><a href="/pmc/articles/PMC108900" 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%20E%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 (10)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24760829">Single-molecule analysis reveals human UV-damaged DNA-binding protein (UV-DDB) dimerizes on DNA via multiple kinetic intermediates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghodke H,
|
||
Wang H,
|
||
Hsieh CL,
|
||
Woldemeskel S,
|
||
Watkins SC,
|
||
Rapić-Otrin V,
|
||
Van Houten B</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2014 May 6;111(18):E1862-71.
|
||
Epub 2014 Apr 23
|
||
doi: 10.1073/pnas.1323856111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24760829" target="_blank">24760829</a><a href="/pmc/articles/PMC4020048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11971958">p53 Binds and activates the xeroderma pigmentosum DDB2 gene in humans but not mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan T,
|
||
Chu G</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Biol</span>
|
||
2002 May;22(10):3247-54.
|
||
doi: 10.1128/MCB.22.10.3247-3254.2002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11971958" target="_blank">11971958</a><a href="/pmc/articles/PMC133779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10882109">Xeroderma pigmentosum p48 gene enhances global genomic repair and suppresses UV-induced mutagenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang JY,
|
||
Hwang BJ,
|
||
Ford JM,
|
||
Hanawalt PC,
|
||
Chu G</span><br />
|
||
<span class="medgenPMjournal">Mol Cell</span>
|
||
2000 Apr;5(4):737-44.
|
||
doi: 10.1016/s1097-2765(00)80252-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10882109" target="_blank">10882109</a><a href="/pmc/articles/PMC2894271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9584159">Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rapić Otrin V,
|
||
Kuraoka I,
|
||
Nardo T,
|
||
McLenigan M,
|
||
Eker AP,
|
||
Stefanini M,
|
||
Levine AS,
|
||
Wood RD</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Biol</span>
|
||
1998 Jun;18(6):3182-90.
|
||
doi: 10.1128/MCB.18.6.3182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9584159" target="_blank">9584159</a><a href="/pmc/articles/PMC108900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8171034">Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keeney S,
|
||
Eker AP,
|
||
Brody T,
|
||
Vermeulen W,
|
||
Bootsma D,
|
||
Hoeijmakers JH,
|
||
Linn S</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1994 Apr 26;91(9):4053-6.
|
||
doi: 10.1073/pnas.91.9.4053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8171034" target="_blank">8171034</a><a href="/pmc/articles/PMC43721" 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%20E%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/8710499">repE--the Dictyostelium homolog of the human xeroderma pigmentosum group E gene is developmentally regulated and contains a leucine zipper motif.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alexander H,
|
||
Lee SK,
|
||
Yu SL,
|
||
Alexander S</span><br />
|
||
<span class="medgenPMjournal">Nucleic Acids Res</span>
|
||
1996 Jun 15;24(12):2295-301.
|
||
doi: 10.1093/nar/24.12.2295.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8710499" target="_blank">8710499</a><a href="/pmc/articles/PMC145941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8538642">Isolation of a cDNA encoding a UV-damaged DNA binding factor defective in xeroderma pigmentosum group E cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hwang BJ,
|
||
Liao JC,
|
||
Chu G</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1996 Jan 2;362(1):105-17.
|
||
doi: 10.1016/0921-8777(95)00040-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8538642" target="_blank">8538642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8530102">Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dualan R,
|
||
Brody T,
|
||
Keeney S,
|
||
Nichols AF,
|
||
Admon A,
|
||
Linn S</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1995 Sep 1;29(1):62-9.
|
||
doi: 10.1006/geno.1995.1215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8530102" target="_blank">8530102</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%20group%20E%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24760829">Single-molecule analysis reveals human UV-damaged DNA-binding protein (UV-DDB) dimerizes on DNA via multiple kinetic intermediates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghodke H,
|
||
Wang H,
|
||
Hsieh CL,
|
||
Woldemeskel S,
|
||
Watkins SC,
|
||
Rapić-Otrin V,
|
||
Van Houten B</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2014 May 6;111(18):E1862-71.
|
||
Epub 2014 Apr 23
|
||
doi: 10.1073/pnas.1323856111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24760829" target="_blank">24760829</a><a href="/pmc/articles/PMC4020048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23610444">DDB2 suppresses epithelial-to-mesenchymal transition in colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roy N,
|
||
Bommi PV,
|
||
Bhat UG,
|
||
Bhattacharjee S,
|
||
Elangovan I,
|
||
Li J,
|
||
Patra KC,
|
||
Kopanja D,
|
||
Blunier A,
|
||
Benya R,
|
||
Bagchi S,
|
||
Raychaudhuri P</span><br />
|
||
<span class="medgenPMjournal">Cancer Res</span>
|
||
2013 Jun 15;73(12):3771-82.
|
||
Epub 2013 Apr 22
|
||
doi: 10.1158/0008-5472.CAN-12-4069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23610444" target="_blank">23610444</a><a href="/pmc/articles/PMC3686976" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11704828">Abnormal regulation of DDB2 gene expression in xeroderma pigmentosum group E strains.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itoh T,
|
||
Nichols A,
|
||
Linn S</span><br />
|
||
<span class="medgenPMjournal">Oncogene</span>
|
||
2001 Oct 25;20(48):7041-50.
|
||
doi: 10.1038/sj.onc.1204909.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11704828" target="_blank">11704828</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8538642">Isolation of a cDNA encoding a UV-damaged DNA binding factor defective in xeroderma pigmentosum group E cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hwang BJ,
|
||
Liao JC,
|
||
Chu G</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1996 Jan 2;362(1):105-17.
|
||
doi: 10.1016/0921-8777(95)00040-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8538642" target="_blank">8538642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8530102">Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dualan R,
|
||
Brody T,
|
||
Keeney S,
|
||
Nichols AF,
|
||
Admon A,
|
||
Linn S</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1995 Sep 1;29(1):62-9.
|
||
doi: 10.1006/geno.1995.1215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8530102" target="_blank">8530102</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%20group%20E%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 (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1848411%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C1848411%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1848411%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C1848411%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1848411%5bDISCUI%5d" target="_blank">See all (18)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=278740" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Xeroderma%20pigmentosum,%20group%20E" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600811" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1643[geneid]" target="_blank">View DDB2 variations in ClinVar</a></li><li><a href="/nuccore/221139899" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=278740" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/xeroderma_pigmentosum_complementation_group_e" 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%20E" 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/5627/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301571" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Xeroderma%20pigmentosum,%20group%20E" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Xeroderma%20pigmentosum,%20group%20E%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=341219" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=341219" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1848411[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1848411[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=341219" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=341219" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=341219" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=341219" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=341219" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=341219" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=341219" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=341219" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=341219" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
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