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<meta name="keywords" content="C0268138, disease or syndrome, ercc2, ercc2 xeroderma pigmentosum, ercc2-related xeroderma pigmentosum, xeroderma pigmentosum 4, xeroderma pigmentosum caused by mutation in ercc2, xeroderma pigmentosum group d, xeroderma pigmentosum group type d, xeroderma pigmentosum iv, xeroderma pigmentosum viii, xeroderma pigmentosum, complementation group d, xeroderma pigmentosum, complementation group type d, xeroderma pigmentosum, group d, xp group d, xp group h, xp, group d, xp, group h, xp, group h, formerly, xp-d, xp4, xp4 xeroderma pigmentosum viii, xp4 xeroderma pigmentosum viii, formerly, xp8, xp8, formerly, xpd, xpdc, xph, xph, formerly, 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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<title>Xeroderma pigmentosum, group D (Concept Id: C0268138)
- MedGen - NCBI</title>
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<!--
UID=75656
ConceptID=C0268138
-->
<!--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 D<span class="h1sub">(XPD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75656</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)&#10;Click for more information.">C0268138</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>ERCC2-Related Xeroderma Pigmentosum; XERODERMA PIGMENTOSUM IV; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XP, GROUP D; XP, GROUP H; XP4 XERODERMA PIGMENTOSUM VIII; XPD</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Xeroderma pigmentosum, group D (68637004); Xeroderma pigmentosum group D (68637004)</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="ERCC2 - ID: 2068 - NCBI Gene" href="/gene/2068" class="medgenPMinfo">ERCC2</a> (19q13.32)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010212" target="_blank">MONDO:0010212</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/278730" target="_blank">278730</a></td></tr>
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<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/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>
<div class="portlet mgSection" id="ID_117">
<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 />Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by Flejter et al., 1992).  <a target="_blank" href="http://www.omim.org/entry/278730">http://www.omim.org/entry/278730</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>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_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)&#10;Click for more information.">C0025202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<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>
<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>
<div class="divPopper rprt" id="clin_9164"><div><strong>Sensorineural hearing loss disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9164</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)&#10;Click for more information.">C0018784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen?term=%22Sensorineural%20hearing%20loss%20disorder%22%5BClinical%20Features%5D%20OR%209164%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)&#10;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)&#10;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_39313"><div><strong>Choreoathetosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39313</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)&#10;Click for more information.">C0085583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39313">Feature record</a> | <a href="/medgen?term=%22Choreoathetosis%22%5BClinical%20Features%5D%20OR%2039313%5Buid%5D">Search on this feature</a></div></div>
<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)&#10;Click for more information.">C0085636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.</div>
<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>
<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</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)&#10;Click for more information.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</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)&#10;Click for more information.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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)&#10;Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%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)&#10;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_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)&#10;Click for more information.">C0009763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Inflammation of the conjunctiva.</div>
<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>
<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)&#10;Click for more information.">C0022568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Inflammation of the cornea.</div>
<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>
<div class="divPopper rprt" id="clin_9620"><div><strong>Keratoconjunctivitis sicca</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9620</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)&#10;Click for more information.">C0022575</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9620">Feature record</a> | <a href="/medgen?term=%22Keratoconjunctivitis%20sicca%22%5BClinical%20Features%5D%20OR%209620%5Buid%5D">Search on this feature</a></div></div>
<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)&#10;Click for more information.">C0013592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An outward turning (eversion) or rotation of the eyelid margin.</div>
<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>
<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)&#10;Click for more information.">C0014390</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<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>
<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)&#10;Click for more information.">C0039446</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<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>
<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>
<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)&#10;Click for more information.">C0151514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Partial or complete wasting (atrophy) of the skin.</div>
<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>
<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)&#10;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_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)&#10;Click for more information.">C0392777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<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>
<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)&#10;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_43103"><div><strong>Corneal neovascularization</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43103</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)&#10;Click for more information.">C0085109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ingrowth of new blood vessels into the cornea.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/43103">Feature record</a> | <a href="/medgen?term=%22Corneal%20neovascularization%22%5BClinical%20Features%5D%20OR%2043103%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)&#10;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)&#10;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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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 head or neck</span><ul><li class="TLline">
<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">
<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 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_43103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal neovascularization</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 immune system</span><ul><li class="TLline">
<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">
<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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratoconjunctivitis sicca</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><li class="TLline">
<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">
<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">
<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 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_39313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choreoathetosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
<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><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></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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></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]&amp;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&amp;from_uid=21943" ref="ncbi_uid=21943">V</a></span></span><span class="TLline"><a href="/medgen/21943" ref="tree=GTR&amp;ncbi_uid=21943&amp;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]&amp;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&amp;ncbi_uid=468518&amp;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]&amp;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&amp;from_uid=82775" ref="ncbi_uid=82775">V</a></span></span><span class="TLline"><a href="/medgen/82775" ref="tree=GTR&amp;ncbi_uid=82775&amp;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]&amp;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&amp;from_uid=78643" ref="ncbi_uid=78643">V</a></span></span><span class="TLline"><a href="/medgen/78643" ref="tree=GTR&amp;ncbi_uid=78643&amp;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&amp;ncbi_uid=196713&amp;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]&amp;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&amp;from_uid=376352" ref="ncbi_uid=376352">V</a></span></span><span class="TLline"><a href="/medgen/376352" ref="tree=GTR&amp;ncbi_uid=376352&amp;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]&amp;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&amp;from_uid=416702" ref="ncbi_uid=416702">V</a></span></span><span class="TLline"><a href="/medgen/416702" ref="tree=GTR&amp;ncbi_uid=416702&amp;link_uid=416702" title="View MedGen record for 'Xeroderma pigmentosum, group C'">Xeroderma pigmentosum, group C</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=C0268138[DISCUI]&amp;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&amp;from_uid=75656" ref="ncbi_uid=75656">V</a></span></span><span class="TLline">Xeroderma pigmentosum, group D</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]&amp;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&amp;from_uid=341219" ref="ncbi_uid=341219">V</a></span></span><span class="TLline"><a href="/medgen/341219" ref="tree=GTR&amp;ncbi_uid=341219&amp;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]&amp;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&amp;from_uid=120612" ref="ncbi_uid=120612">V</a></span></span><span class="TLline"><a href="/medgen/120612" ref="tree=GTR&amp;ncbi_uid=120612&amp;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]&amp;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&amp;from_uid=75657" ref="ncbi_uid=75657">V</a></span></span><span class="TLline"><a href="/medgen/75657" ref="tree=GTR&amp;ncbi_uid=75657&amp;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 D</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/27069143">Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotypes to Colorectal Cancer Risk in Taiwan.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chang WS,
Yueh TC,
Tsai CW,
Ji HX,
Wu CN,
Wang SC,
Lai YL,
Hsu SW,
Hsieh MH,
Hsiao CL,
Hung YW,
Shih TC,
Bau DT</span><br />
<span class="medgenPMjournal">Anticancer Res</span>
2016 Apr;36(4):1657-63.
<span class="bold">PMID: </span><a href="/pubmed/27069143" target="_blank">27069143</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26254397">Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotype to Gastric Cancer Risk in Taiwan.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ji HX,
Chang WS,
Tsai CW,
Wang JY,
Huang NK,
Lee AS,
Shen MY,
Chen WY,
Chiang YC,
Shih TC,
Hsu CM,
Bau DT</span><br />
<span class="medgenPMjournal">Anticancer Res</span>
2015 Sep;35(9):4975-81.
<span class="bold">PMID: </span><a href="/pubmed/26254397" target="_blank">26254397</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21787270">Pharmacokinetic and metabolism determinants of fluoropyrimidines and oxaliplatin activity in treatment of colorectal patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gnoni A,
Russo A,
Silvestris N,
Maiello E,
Vacca A,
Marech I,
Numico G,
Paradiso A,
Lorusso V,
Azzariti A</span><br />
<span class="medgenPMjournal">Curr Drug Metab</span>
2011 Dec;12(10):918-31.
doi: 10.2174/138920011798062300.
<span class="bold">PMID: </span><a href="/pubmed/21787270" target="_blank">21787270</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22xeroderma%20pigmentosum%2C%20group%20d%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (8)</a></div></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/35277785">A review on the genetic polymorphisms and susceptibility of cancer patients in Bangladesh.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Babu G,
Bin Islam S,
Khan MA</span><br />
<span class="medgenPMjournal">Mol Biol Rep</span>
2022 Jul;49(7):6725-6739.
Epub 2022 Mar 11
doi: 10.1007/s11033-022-07282-8.
<span class="bold">PMID: </span><a href="/pubmed/35277785" target="_blank">35277785</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27262611">Role of XPD in cellular functions: To TFIIH and beyond.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Houten BV,
Kuper J,
Kisker C</span><br />
<span class="medgenPMjournal">DNA Repair (Amst)</span>
2016 Aug;44:136-142.
Epub 2016 May 16
doi: 10.1016/j.dnarep.2016.05.019.
<span class="bold">PMID: </span><a href="/pubmed/27262611" target="_blank">27262611</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20687508">Cerebro-oculo-facio-skeletal syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Suzumura H,
Arisaka O</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
2010;685:210-4.
doi: 10.1007/978-1-4419-6448-9_19.
<span class="bold">PMID: </span><a href="/pubmed/20687508" target="_blank">20687508</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11335038">Trichothiodystrophy, a transcription syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bergmann E,
Egly JM</span><br />
<span class="medgenPMjournal">Trends Genet</span>
2001 May;17(5):279-86.
doi: 10.1016/s0168-9525(01)02280-6.
<span class="bold">PMID: </span><a href="/pubmed/11335038" target="_blank">11335038</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11156600">The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lehmann AR</span><br />
<span class="medgenPMjournal">Genes Dev</span>
2001 Jan 1;15(1):15-23.
doi: 10.1101/gad.859501.
<span class="bold">PMID: </span><a href="/pubmed/11156600" target="_blank">11156600</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%20group%20D%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 (1017)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38422792">DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hozhabrpour A,
Mojbafan M,
Palizban F,
Vahidnezhad F,
Talebi S,
Amani M,
Garshasbi M,
Naghavi A,
Khalesi R,
Mansouri P,
Sotoudeh S,
Mahmoudi H,
Varghaei A,
Daneshpazhooh M,
Karimi F,
Zeinali S,
Kalamati E,
Uitto J,
Youssefian L,
Vahidnezhad H</span><br />
<span class="medgenPMjournal">DNA Repair (Amst)</span>
2024 Apr;136:103633.
Epub 2024 Feb 29
doi: 10.1016/j.dnarep.2024.103633.
<span class="bold">PMID: </span><a href="/pubmed/38422792" target="_blank">38422792</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37996508">Nucleotide excision repair deficiency is a targetable therapeutic vulnerability in clear cell renal cell carcinoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prosz A,
Duan H,
Tisza V,
Sahgal P,
Topka S,
Klus GT,
Börcsök J,
Sztupinszki Z,
Hanlon T,
Diossy M,
Vizkeleti L,
Stormoen DR,
Csabai I,
Pappot H,
Vijai J,
Offit K,
Ried T,
Sethi N,
Mouw KW,
Spisak S,
Pathania S,
Szallasi Z</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2023 Nov 23;13(1):20567.
doi: 10.1038/s41598-023-47946-4.
<span class="bold">PMID: </span><a href="/pubmed/37996508" target="_blank">37996508</a><a href="/pmc/articles/PMC10667362" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37870965">Genomic Tumor Correlates of Clinical Outcomes Following Organ-Sparing Chemoradiation Therapy for Bladder Cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kamran SC,
Zhou Y,
Otani K,
Drumm M,
Otani Y,
Wu S,
Wu CL,
Feldman AS,
Wszolek M,
Lee RJ,
Saylor PJ,
Lennerz J,
Van Allen E,
Willers H,
Hong TS,
Liu Y,
Davicioni E,
Gibb EA,
Shipley WU,
Mouw KW,
Efstathiou JA,
Miyamoto DT</span><br />
<span class="medgenPMjournal">Clin Cancer Res</span>
2023 Dec 15;29(24):5116-5127.
doi: 10.1158/1078-0432.CCR-23-0792.
<span class="bold">PMID: </span><a href="/pubmed/37870965" target="_blank">37870965</a><a href="/pmc/articles/PMC10722135" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30580289">PIBIDS syndrome in two Brazilian siblings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abagge KT,
Haupenthal F,
Felber GY,
Raskin S</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2018 Dec 22;11(1)
doi: 10.1136/bcr-2017-223744.
<span class="bold">PMID: </span><a href="/pubmed/30580289" target="_blank">30580289</a><a href="/pmc/articles/PMC6307604" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30340464">An African perspective on the genetic risk of chronic kidney disease: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">George C,
Yako YY,
Okpechi IG,
Matsha TE,
Kaze Folefack FJ,
Kengne AP</span><br />
<span class="medgenPMjournal">BMC Med Genet</span>
2018 Oct 19;19(1):187.
doi: 10.1186/s12881-018-0702-x.
<span class="bold">PMID: </span><a href="/pubmed/30340464" target="_blank">30340464</a><a href="/pmc/articles/PMC6194564" 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%20D%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 (246)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39003201">Correlative Analysis of ATM, RB1, ERCC2, and FANCC Mutations and Pathologic Complete Response After Neoadjuvant Chemotherapy in Patients with Muscle-invasive Bladder Cancer: Results from the SWOG S1314 Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plimack ER,
Tangen C,
Plets M,
Kokate R,
Xiu J,
Nabhan C,
Ross EA,
Grundy E,
Choi W,
Dinney CPN,
Lee IC,
Fong M,
Scott Lucia M,
Daneshmand S,
Theodorescu D,
Goldkorn A,
Lerner SP,
Flaig TW,
McConkey DJ</span><br />
<span class="medgenPMjournal">Eur Urol</span>
2024 Oct;86(4):297-300.
Epub 2024 Jul 14
doi: 10.1016/j.eururo.2024.06.018.
<span class="bold">PMID: </span><a href="/pubmed/39003201" target="_blank">39003201</a><a href="/pmc/articles/PMC11416320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37783966">Gemcitabine and cisplatin plus nivolumab as organ-sparing treatment for muscle-invasive bladder cancer: a phase 2 trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galsky MD,
Daneshmand S,
Izadmehr S,
Gonzalez-Kozlova E,
Chan KG,
Lewis S,
Achkar BE,
Dorff TB,
Cetnar JP,
Neil BO,
D'Souza A,
Mamtani R,
Kyriakopoulos C,
Jun T,
Gogerly-Moragoda M,
Brody R,
Xie H,
Nie K,
Kelly G,
Horowitz A,
Kinoshita Y,
Ellis E,
Nose Y,
Ioannou G,
Cabal R,
Del Valle DM,
Haines GK,
Wang L,
Mouw KW,
Samstein RM,
Mehrazin R,
Bhardwaj N,
Yu M,
Zhao Q,
Kim-Schulze S,
Sebra R,
Zhu J,
Gnjatic S,
Sfakianos J,
Pal SK</span><br />
<span class="medgenPMjournal">Nat Med</span>
2023 Nov;29(11):2825-2834.
Epub 2023 Oct 2
doi: 10.1038/s41591-023-02568-1.
<span class="bold">PMID: </span><a href="/pubmed/37783966" target="_blank">37783966</a><a href="/pmc/articles/PMC10667093" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34347976">Association Studies of ERCC2 rs13181 Polymorphism with Pancreatic Cancer Susceptibility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shao T,
Kou J</span><br />
<span class="medgenPMjournal">Crit Rev Eukaryot Gene Expr</span>
2021;31(2):17-23.
doi: 10.1615/CritRevEukaryotGeneExpr.2021037540.
<span class="bold">PMID: </span><a href="/pubmed/34347976" target="_blank">34347976</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24933002">Common variants of xeroderma pigmentosum genes and prostate cancer risk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mirecka A,
Paszkowska-Szczur K,
Scott RJ,
Górski B,
van de Wetering T,
Wokołorczyk D,
Gromowski T,
Serrano-Fernandez P,
Cybulski C,
Kashyap A,
Gupta S,
Gołąb A,
Słojewski M,
Sikorski A,
Lubiński J,
Dębniak T</span><br />
<span class="medgenPMjournal">Gene</span>
2014 Aug 10;546(2):156-61.
Epub 2014 Jun 13
doi: 10.1016/j.gene.2014.06.026.
<span class="bold">PMID: </span><a href="/pubmed/24933002" target="_blank">24933002</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12901946">Tailoring chemotherapy in advanced colorectal cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Park DJ,
Stoehlmacher J,
Lenz HJ</span><br />
<span class="medgenPMjournal">Curr Opin Pharmacol</span>
2003 Aug;3(4):378-85.
doi: 10.1016/s1471-4892(03)00082-1.
<span class="bold">PMID: </span><a href="/pubmed/12901946" target="_blank">12901946</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%20group%20D%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 (272)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39003201">Correlative Analysis of ATM, RB1, ERCC2, and FANCC Mutations and Pathologic Complete Response After Neoadjuvant Chemotherapy in Patients with Muscle-invasive Bladder Cancer: Results from the SWOG S1314 Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plimack ER,
Tangen C,
Plets M,
Kokate R,
Xiu J,
Nabhan C,
Ross EA,
Grundy E,
Choi W,
Dinney CPN,
Lee IC,
Fong M,
Scott Lucia M,
Daneshmand S,
Theodorescu D,
Goldkorn A,
Lerner SP,
Flaig TW,
McConkey DJ</span><br />
<span class="medgenPMjournal">Eur Urol</span>
2024 Oct;86(4):297-300.
Epub 2024 Jul 14
doi: 10.1016/j.eururo.2024.06.018.
<span class="bold">PMID: </span><a href="/pubmed/39003201" target="_blank">39003201</a><a href="/pmc/articles/PMC11416320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37783966">Gemcitabine and cisplatin plus nivolumab as organ-sparing treatment for muscle-invasive bladder cancer: a phase 2 trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galsky MD,
Daneshmand S,
Izadmehr S,
Gonzalez-Kozlova E,
Chan KG,
Lewis S,
Achkar BE,
Dorff TB,
Cetnar JP,
Neil BO,
D'Souza A,
Mamtani R,
Kyriakopoulos C,
Jun T,
Gogerly-Moragoda M,
Brody R,
Xie H,
Nie K,
Kelly G,
Horowitz A,
Kinoshita Y,
Ellis E,
Nose Y,
Ioannou G,
Cabal R,
Del Valle DM,
Haines GK,
Wang L,
Mouw KW,
Samstein RM,
Mehrazin R,
Bhardwaj N,
Yu M,
Zhao Q,
Kim-Schulze S,
Sebra R,
Zhu J,
Gnjatic S,
Sfakianos J,
Pal SK</span><br />
<span class="medgenPMjournal">Nat Med</span>
2023 Nov;29(11):2825-2834.
Epub 2023 Oct 2
doi: 10.1038/s41591-023-02568-1.
<span class="bold">PMID: </span><a href="/pubmed/37783966" target="_blank">37783966</a><a href="/pmc/articles/PMC10667093" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30340464">An African perspective on the genetic risk of chronic kidney disease: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">George C,
Yako YY,
Okpechi IG,
Matsha TE,
Kaze Folefack FJ,
Kengne AP</span><br />
<span class="medgenPMjournal">BMC Med Genet</span>
2018 Oct 19;19(1):187.
doi: 10.1186/s12881-018-0702-x.
<span class="bold">PMID: </span><a href="/pubmed/30340464" target="_blank">30340464</a><a href="/pmc/articles/PMC6194564" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27183147">Nucleotide excision repair and response and survival to chemotherapy in colorectal cancer patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kap EJ,
Popanda O,
Chang-Claude J</span><br />
<span class="medgenPMjournal">Pharmacogenomics</span>
2016 May;17(7):755-94.
Epub 2016 May 16
doi: 10.2217/pgs-2015-0017.
<span class="bold">PMID: </span><a href="/pubmed/27183147" target="_blank">27183147</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27085493">Identification of Damaging nsSNVs in HumanERCC2 Gene.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fang S,
Zhang Y,
Xu M,
Xue C,
He L,
Cai L,
Xing X</span><br />
<span class="medgenPMjournal">Chem Biol Drug Des</span>
2016 Sep;88(3):441-50.
Epub 2016 May 24
doi: 10.1111/cbdd.12772.
<span class="bold">PMID: </span><a href="/pubmed/27085493" target="_blank">27085493</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%20group%20D%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 (279)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39003201">Correlative Analysis of ATM, RB1, ERCC2, and FANCC Mutations and Pathologic Complete Response After Neoadjuvant Chemotherapy in Patients with Muscle-invasive Bladder Cancer: Results from the SWOG S1314 Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plimack ER,
Tangen C,
Plets M,
Kokate R,
Xiu J,
Nabhan C,
Ross EA,
Grundy E,
Choi W,
Dinney CPN,
Lee IC,
Fong M,
Scott Lucia M,
Daneshmand S,
Theodorescu D,
Goldkorn A,
Lerner SP,
Flaig TW,
McConkey DJ</span><br />
<span class="medgenPMjournal">Eur Urol</span>
2024 Oct;86(4):297-300.
Epub 2024 Jul 14
doi: 10.1016/j.eururo.2024.06.018.
<span class="bold">PMID: </span><a href="/pubmed/39003201" target="_blank">39003201</a><a href="/pmc/articles/PMC11416320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37783966">Gemcitabine and cisplatin plus nivolumab as organ-sparing treatment for muscle-invasive bladder cancer: a phase 2 trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galsky MD,
Daneshmand S,
Izadmehr S,
Gonzalez-Kozlova E,
Chan KG,
Lewis S,
Achkar BE,
Dorff TB,
Cetnar JP,
Neil BO,
D'Souza A,
Mamtani R,
Kyriakopoulos C,
Jun T,
Gogerly-Moragoda M,
Brody R,
Xie H,
Nie K,
Kelly G,
Horowitz A,
Kinoshita Y,
Ellis E,
Nose Y,
Ioannou G,
Cabal R,
Del Valle DM,
Haines GK,
Wang L,
Mouw KW,
Samstein RM,
Mehrazin R,
Bhardwaj N,
Yu M,
Zhao Q,
Kim-Schulze S,
Sebra R,
Zhu J,
Gnjatic S,
Sfakianos J,
Pal SK</span><br />
<span class="medgenPMjournal">Nat Med</span>
2023 Nov;29(11):2825-2834.
Epub 2023 Oct 2
doi: 10.1038/s41591-023-02568-1.
<span class="bold">PMID: </span><a href="/pubmed/37783966" target="_blank">37783966</a><a href="/pmc/articles/PMC10667093" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36594475">Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181) polymorphisms of DNA repair genes in breast cancer occurrence in Burkina Faso.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adico MDW,
Zouré AA,
Sombié HK,
Kiendrebeogo TI,
Dabré S,
Amegnona LJ,
Bakyono BS,
Traoré L,
Ouedraogo TC,
Ouedraogo RA,
Zohoncon TM,
Yonli AT,
Bayala B,
Bambara HA,
Djigma FW,
Simpore J</span><br />
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
2023 Apr;11(4):e2134.
Epub 2023 Jan 3
doi: 10.1002/mgg3.2134.
<span class="bold">PMID: </span><a href="/pubmed/36594475" target="_blank">36594475</a><a href="/pmc/articles/PMC10094077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30340464">An African perspective on the genetic risk of chronic kidney disease: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">George C,
Yako YY,
Okpechi IG,
Matsha TE,
Kaze Folefack FJ,
Kengne AP</span><br />
<span class="medgenPMjournal">BMC Med Genet</span>
2018 Oct 19;19(1):187.
doi: 10.1186/s12881-018-0702-x.
<span class="bold">PMID: </span><a href="/pubmed/30340464" target="_blank">30340464</a><a href="/pmc/articles/PMC6194564" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27183147">Nucleotide excision repair and response and survival to chemotherapy in colorectal cancer patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kap EJ,
Popanda O,
Chang-Claude J</span><br />
<span class="medgenPMjournal">Pharmacogenomics</span>
2016 May;17(7):755-94.
Epub 2016 May 16
doi: 10.2217/pgs-2015-0017.
<span class="bold">PMID: </span><a href="/pubmed/27183147" target="_blank">27183147</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%20group%20D%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 (392)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/31957502">Association between Single Nucleotide Polymorphisms and Glioma Risk: A Systematic Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tavares CB,
Gomes-Braga FDCSA,
Sousa EB,
Brito JNPO,
Melo MA,
Campelo V,
Neto FM,
de Araújo RML,
Kessler IM,
Sousa Júnior LM,
Filho LCC,
Aguiar YQ,
Lopes Costa PV,
da Silva BB</span><br />
<span class="medgenPMjournal">Cancer Invest</span>
2020 Mar;38(3):169-183.
Epub 2020 Mar 2
doi: 10.1080/07357907.2020.1719502.
<span class="bold">PMID: </span><a href="/pubmed/31957502" target="_blank">31957502</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30402838">ERCC polymorphisms and risk of osteosarcoma: a meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen XJ,
Tong ZC,
Kang X,
Wang ZC,
Huang GL,
Yang TM,
Dong L</span><br />
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
2018 Oct;22(20):6658-6666.
doi: 10.26355/eurrev_201810_16142.
<span class="bold">PMID: </span><a href="/pubmed/30402838" target="_blank">30402838</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23973729">Genetic polymorphisms of xeroderma pigmentosum group D gene Asp312Asn and Lys751Gln and susceptibility to prostate cancer: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ma Q,
Qi C,
Tie C,
Guo Z</span><br />
<span class="medgenPMjournal">Gene</span>
2013 Nov 10;530(2):309-14.
Epub 2013 Aug 23
doi: 10.1016/j.gene.2013.08.053.
<span class="bold">PMID: </span><a href="/pubmed/23973729" target="_blank">23973729</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19706646">DNA repair gene polymorphisms and risk of cutaneous melanoma: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mocellin S,
Verdi D,
Nitti D</span><br />
<span class="medgenPMjournal">Carcinogenesis</span>
2009 Oct;30(10):1735-43.
Epub 2009 Aug 25
doi: 10.1093/carcin/bgp207.
<span class="bold">PMID: </span><a href="/pubmed/19706646" target="_blank">19706646</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18349268">DNA repair gene XPD polymorphisms and cancer risk: a meta-analysis based on 56 case-control studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang F,
Chang D,
Hu FL,
Sui H,
Han B,
Li DD,
Zhao YS</span><br />
<span class="medgenPMjournal">Cancer Epidemiol Biomarkers Prev</span>
2008 Mar;17(3):507-17.
doi: 10.1158/1055-9965.EPI-07-2507.
<span class="bold">PMID: </span><a href="/pubmed/18349268" target="_blank">18349268</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xeroderma%20pigmentosum%2C%20group%20D%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268138%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (32)</a></li>
<li><a href="/gtr/tests?term=C0268138%5bDISCUI%5d&amp;filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
<li><a href="/gtr/tests?term=C0268138%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C0268138%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (38)</a></li>
<li><a href="/gtr/tests?term=C0268138%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268138%5bDISCUI%5d" target="_blank">See all (45)</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%20d%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></ul></div>
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