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151 KiB
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<meta name="keywords" content="C0039446, finding, hyphenwebs, spider veins, telangiectases, telangiectasia, telangiectasia disorder, telangiectasias, telangiectasis, thread veins, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=21088
|
||
ConceptID=C0039446
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Telangiectasia</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Telangiectases; Telangiectasias; Telangiectasis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Telangiectasis (112641009); Telangiectasia (112641009); Telangiectasia disorder (247479008); Thread veins (247479008); Hyphenwebs (247479008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001009">HP:0001009</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001576" target="_blank">MONDO:0001576</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">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. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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>
|
||
<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0039446[DISCUI]&test_type=Clinical" ref="ncbi_uid=21088">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Telangiectasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/358379" ref="tree=MeSH" title="MedGen record for Skin, Histology">Skin, Histology</a></span><ul><li><span class="matched_ds">Telangiectasia</span><ul><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/60083" ref="tree=MeSH" title="MedGen record for CREST syndrome">CREST syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1845965" ref="tree=MeSH" title="MedGen record for Cutaneous telangiectasia">Cutaneous telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/78093" ref="tree=MeSH" title="MedGen record for Cutis marmorata">Cutis marmorata</a></span></li><li><span class="TLline"><a href="/medgen/224748" ref="tree=MeSH" title="MedGen record for Diffuse telangiectasia">Diffuse telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/102319" ref="tree=MeSH" title="MedGen record for Exudative retinopathy">Exudative retinopathy</a></span></li><li><span class="TLline"><a href="/medgen/52657" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a></span><ul><li><span class="TLline"><a href="/medgen/371403" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia type 3">Hereditary hemorrhagic telangiectasia type 3</a></span></li><li><span class="TLline"><a href="/medgen/341824" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia type 4">Hereditary hemorrhagic telangiectasia type 4</a></span></li><li><span class="TLline"><a href="/medgen/331400" ref="tree=MeSH" title="MedGen record for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome">Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1643786" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 1">Telangiectasia, hereditary hemorrhagic, type 1</a></span></li><li><span class="TLline"><a href="/medgen/324960" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 2">Telangiectasia, hereditary hemorrhagic, type 2</a></span></li><li><span class="TLline"><a href="/medgen/816040" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 5">Telangiectasia, hereditary hemorrhagic, type 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867631" ref="tree=MeSH" title="MedGen record for Mucosal telangiectasiae">Mucosal telangiectasiae</a></span><ul><li><span class="TLline"><a href="/medgen/862012" ref="tree=MeSH" title="MedGen record for Bronchial telangiectasia">Bronchial telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/66780" ref="tree=MeSH" title="MedGen record for Conjunctival telangiectasia">Conjunctival telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/451085" ref="tree=MeSH" title="MedGen record for Gastrointestinal telangiectasia">Gastrointestinal telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/871359" ref="tree=MeSH" title="MedGen record for Nasal mucosa telangiectasia">Nasal mucosa telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/871381" ref="tree=MeSH" title="MedGen record for Oral cavity telangiectasia">Oral cavity telangiectasia</a></span><ul><li><span class="TLline"><a href="/medgen/347522" ref="tree=MeSH" title="MedGen record for Lip telangiectasia">Lip telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/387887" ref="tree=MeSH" title="MedGen record for Palate telangiectasia">Palate telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/870436" ref="tree=MeSH" title="MedGen record for Telangiectasia of the oral mucosa">Telangiectasia of the oral mucosa</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/78094" ref="tree=MeSH" title="MedGen record for Telangiectasia macularis eruptiva perstans">Telangiectasia macularis eruptiva perstans</a></span></li><li><span class="TLline"><a href="/medgen/867629" ref="tree=MeSH" title="MedGen record for Telangiectasia of the skin">Telangiectasia of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/488948" ref="tree=MeSH" title="MedGen record for Facial telangiectasia">Facial telangiectasia</a></span><ul><li><span class="TLline"><a href="/medgen/867272" ref="tree=MeSH" title="MedGen record for Facial telangiectasia in butterfly midface distribution">Facial telangiectasia in butterfly midface distribution</a></span></li><li><span class="TLline"><a href="/medgen/767501" ref="tree=MeSH" title="MedGen record for Telangiectases of the cheeks">Telangiectases of the cheeks</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/396091" ref="tree=MeSH" title="MedGen record for Fingerpad telangiectases">Fingerpad telangiectases</a></span></li><li><span class="TLline"><a href="/medgen/866602" ref="tree=MeSH" title="MedGen record for Palmar telangiectasia">Palmar telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/1611759" ref="tree=MeSH" title="MedGen record for Periungual teleangiectasia">Periungual teleangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/868473" ref="tree=MeSH" title="MedGen record for Spider hemangioma">Spider hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/870394" ref="tree=MeSH" title="MedGen record for Telangiectases producing 'marbled' skin">Telangiectases producing 'marbled' skin</a></span></li><li><span class="TLline"><a href="/medgen/870382" ref="tree=MeSH" title="MedGen record for Telangiectasia of extensor surfaces">Telangiectasia of extensor surfaces</a></span></li><li><span class="TLline"><a href="/medgen/869740" ref="tree=MeSH" title="MedGen record for Telangiectasia of the ear">Telangiectasia of the ear</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_42055"><div><strong>Focal dermal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42055</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:">C0016395</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PORCN-related developmental disorders include a spectrum of highly variable multisystem disorders caused by developmental abnormalities in mesodermal and ectodermal structures primarily involving the skin, limbs, eyes, and face. The manifestations vary among affected individuals, and many have only a subset of the characteristic features. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucous papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo- and syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, pointed chin, and small, underfolded pinnae. Dental anomalies can include hypodontia, enamel defects, and/or abnormally shaped teeth. Occasional findings include abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment and/or behavioral issues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42055">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_5414"><div><strong>Hallermann-Streiff syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5414</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.">C0018522</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5414">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75550"><div><strong>DE SANCTIS-CACCHIONE SYNDROME</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75550</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.">C0265201</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75550">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82775"><div><strong>Xeroderma pigmentosum group A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82775</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.">C0268135</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82775">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75656"><div><strong>Xeroderma pigmentosum, group D</strong><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) Click for more information.">C0268138</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75656">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83381"><div><strong>Congenital livedo reticularis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83381</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.">C0345419</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated and classic cutis marmorata telangiectatica congenita (CMTC) are characterized by congenital skin changes including erythematous-to-violaceous, reticulated, net-like or marbled-appearing patches of skin that do not mostly or completely resolve with warming or any other acute intervention. Individuals with isolated CMTC have no other syndromic features, and skin lesions tend to fade or resolve. Those with classic CMTC may have accompanying hemihypoplasia with body asymmetry, skin atrophy or ulceration, other vascular malformations, and occasional ocular issues (early-onset glaucoma and/or peripheral retinal vascular attenuation) but do not have other malformations, dysmorphic features, or cognitive impairment. The most common location for the CMTC lesions is on the legs. An affected limb may also display weakness or be unusually susceptible to cold compared to an unaffected limb. In more than half of affected individuals, skin lesions will generally fade across a wide range in age (6 weeks to 26 years), most commonly in the first year of life, but may not resolve completely.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83381">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208669"><div><strong>Ramon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208669</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.">C0796133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208669">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_224855"><div><strong>Deficiency of transaldolase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224855</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.">C1291329</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Transaldolase deficiency (TALDOD) is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular face, loose wrinkly skin at birth, and development of progressive liver failure (summary by Lee-Barber et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/224855">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331400"><div><strong>Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331400</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.">C1832942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331400">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324784"><div><strong>Congenital disorder of glycosylation type 1E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324784</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.">C1837396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a discussion of the classification of CDGs, see CDG Ia (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375620"><div><strong>Deafness-intellectual disability, Martin-Probst type syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375620</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.">C1845285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Martin-Probst syndrome (MRXSMP) is characterized by congenital sensorineural hearing loss, mild to severe cognitive impairment, short stature, and facial dysmorphism, including telecanthus, hypertelorism, epicanthic folds, broad mouth, and low-set ears. Variable features include renal and genitourinary abnormalities and late-onset pancytopenia (Martin et al., 2000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375620">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339855"><div><strong>DNA ligase IV deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339855</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.">C1847827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">LIG4 syndrome is an autosomal recessive severe combined immunodeficiency with features of radiosensitivity, chromosomal instability, pancytopenia, and developmental and growth delay. Leukemia and dysmorphic facial features have been reported in some patients (summary by van der Burg et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339855">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341219"><div><strong>Xeroderma pigmentosum, group E</strong><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.">C1848411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341219">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388129"><div><strong>Poikiloderma with neutropenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388129</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.">C1858723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (appears at ages 6-12 months) followed by post-inflammatory poikiloderma (at age >2 years) and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life and (often) bronchiectasis. There is increased risk for myelodysplastic syndrome, acute myelogenous leukemia, and skin cancer. Other ectodermal findings include thickened nails, nail dystrophy, and palmar/plantar hyperkeratosis. Most affected individuals also have reactive airway disease, and some have short stature, hypogonadotropic hypogonadism, midfacial retrusion, calcinosis cutis, and non-healing skin ulcers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388129">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348124"><div><strong>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348124</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.">C1860518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small-vessel disease that affects highly vascularized tissues including the retina, brain, liver, and kidneys. Age of onset is often between 35 and 50 years. The most common presenting finding is decreased visual acuity and/or visual field defects. Neurologic manifestations may include hemiparesis, facial weakness, aphasia, and hemianopsia. Migraines and seizures are less frequently described. Renal manifestations may include mild-to-moderate increase in serum creatinine and mild proteinuria; progression to end-stage renal disease (ESRD) is uncommon. Hepatic manifestations frequently include mildly elevated levels of alkaline phosphatase and gamma-glutamyltransferase (GGT). Less common findings include psychiatric disorders, hypertension, mild-to-moderate anemia, and Raynaud phenomenon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348124">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400438"><div><strong>Cerebral cavernous malformation 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400438</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.">C1864041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial cerebral cavernous malformations (FCCM) is a disorder characterized by multiple vascular lesions in the brain and spinal cord that consist of clustered, endothelial-lined caverns ranging in diameter from a few millimeters to several centimeters. Cerebral and/or spinal cavernous malformations may increase in number over time, and individual lesions may increase or decrease in size. The number of cerebral cavernous malformations (CCMs) identified in an individual ranges from one or two to hundreds of lesions (typical number 6-20 CCMs) depending on the individual's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades of life either incidentally or associated with seizures, focal neurologic deficits, headaches, and/or cerebral hemorrhage. Cutaneous vascular lesions are found in 9% and retinal vascular lesions in almost 5% of affected individuals. Up to 50% of individuals with FCCM remain symptom free throughout their lives.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400438">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355730"><div><strong>Trichothiodystrophy 1, photosensitive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355730</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.">C1866504</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.\n\nTrichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. People with trichothiodystrophy may have abnormal red blood cells, including red blood cells that are smaller than normal. They may also have elevated levels of a type of hemoglobin called A2, which is a protein found in red blood cells. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early age.\n\nMothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. \n\nThe signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.\n\nIn people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength. A cross section of a cut hair shows alternating light and dark banding that has been described as a "tiger tail."\n\nIntellectual disability and delayed development are common in people with trichothiodystrophy, although most affected individuals are highly social with an outgoing and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses.\n\nTrichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. </div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355730">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356661"><div><strong>Scleroderma, familial progressive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356661</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.">C1866983</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356661">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393396"><div><strong>Chromosome 6pter-p24 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393396</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.">C2675486</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393396">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_416702"><div><strong>Xeroderma pigmentosum, group C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416702</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.">C2752147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416702">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419790"><div><strong>Moyamoya disease 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419790</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.">C2931384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419790">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482833"><div><strong>Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482833</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.">C3281203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove">Patients with familial cutaneous telangiectasia and cancer syndrome (FCTCS) develop cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well (Tanaka et al., 2012).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482833">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_854011"><div><strong>Hemochromatosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854011</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.">C3469186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">HFE-related hemochromatosis (HFE HC) is characterized by increased intestinal iron absorption and increased recycling of iron derived from senescent red blood cells. The phenotypic spectrum of HFE HC includes clinical HFE HC (increased serum ferritin and transferrin saturation and end-organ damage secondary to iron overload), biochemical HFE HC (increased serum ferritin and transferrin saturation without end-organ damage), and non-penetrant HFE HC (neither clinical manifestations of HFE HC nor iron overload are present, although elevated transferrin saturation may occur). Clinical HFE HC is characterized by excessive iron in the liver, pancreas, heart, skin, joints, and anterior pituitary gland. In untreated individuals, early manifestations include weakness, chronic fatigue, abdominal pain, weight loss, arthralgias, and diabetes mellitus. Individuals with HFE HC have an increased risk of cirrhosis when their serum ferritin is higher than 1,000 µg/L. Other findings of severe iron overload include hypogonadism, congestive heart failure, arrhythmias, and progressive increase in skin pigmentation. Clinical HFE HC is more common in males than females.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/854011">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_764087"><div><strong>UV-sensitive syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>764087</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.">C3551173</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">UV-sensitive syndrome-1 (UVSS1) is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004). Genetic Heterogeneity of UV-Sensitive Syndrome See also UVSS2 (614621), caused by mutation in the ERCC8 gene (609412) on chromosome 5q12, and UVSS3 (614640), caused by mutation in the UVSSA gene (614632) on chromosome 4p16.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/764087">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766242"><div><strong>UV-sensitive syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766242</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.">C3553328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Itoh et al., 1994 and Nakazawa et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766242">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816040"><div><strong>Telangiectasia, hereditary hemorrhagic, type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816040</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.">C3809710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816040">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_861227"><div><strong>Ataxia-telangiectasia-like disorder 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>861227</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.">C4012790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are not present in ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999). Genetic Heterogeneity of Ataxia-Telangiectasia-Like Disorder See also ATLD2 (615919), caused by mutation in the PCNA gene (176740) on chromosome 20p12.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/861227">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_863159"><div><strong>STING-associated vasculopathy with onset in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863159</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.">C4014722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">STING-associated vasculopathy with onset in infancy is an autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation. Many patients have interstitial lung disease. Tissue biopsy and laboratory findings show a hyperinflammatory state, with evidence of increased beta-interferon (IFNB1; 147640) signaling (summary by Liu et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863159">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1643786"><div><strong>Telangiectasia, hereditary hemorrhagic, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643786</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.">C4551861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643786">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1643124"><div><strong>Pulmonary hypertension, primary, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643124</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.">C4552070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013). Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary Hypertension See also PPH2 (615342), caused by mutation in the SMAD9 gene (603295) on chromosome 13q13; PPH3 (615343), caused by mutation in the CAV1 gene (601047) on chromosome 7q31; PPH4 (615344), caused by mutation in the KCNK3 gene (603220) on chromosome 2p23; PPH5 (265400), caused by mutation in the ATP13A3 gene (610232) on chromosome 3q29; and PPH6 (620777), caused by mutation in the CAPNS1 gene (114170) on chromosome 19q13. Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1; 187300), caused by mutation in the ENG gene (131195), and HHT2 (600376), caused by mutation in the ACVRL1 (ALK1) gene (601284). Pediatric-onset pulmonary hypertension may be seen in association with ischiocoxopodopatellar syndrome (ICPPS; 147891). The skeletal manifestations of ICPPS are highly variable and may not be detected in children. Parents are not likely to have PAH (Levy et al., 2016).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643124">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648502"><div><strong>Capillary malformation-arteriovenous malformation 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648502</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.">C4748670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648502">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684753"><div><strong>Rothmund-Thomson syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684753</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.">C5203410</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, telangiectasias, and punctate atrophy (collectively known as poikiloderma) that persist throughout life. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities can include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1684753">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_861227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-telangiectasia-like disorder 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Capillary malformation-arteriovenous malformation 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cavernous malformation 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393396" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 6pter-p24 deletion syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation type 1E</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (32)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital livedo reticularis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DE SANCTIS-CACCHIONE SYNDROME</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deafness-intellectual disability, Martin-Probst type syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_224855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of transaldolase</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DNA ligase IV deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal dermal hypoplasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5414" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hallermann-Streiff syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Moyamoya disease 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388129" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poikiloderma with neutropenia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary hypertension, primary, 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208669" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ramon syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rothmund-Thomson syndrome type 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scleroderma, familial progressive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">STING-associated vasculopathy with onset in infancy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia, hereditary hemorrhagic, type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia, hereditary hemorrhagic, type 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichothiodystrophy 1, photosensitive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_764087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">UV-sensitive syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766242" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">UV-sensitive syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum group A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416702" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum, group C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum, group D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341219" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum, group E</a></div></span></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/35104917">Rosacea management: A comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma A,
|
||
Kroumpouzos G,
|
||
Kassir M,
|
||
Galadari H,
|
||
Goren A,
|
||
Grabbe S,
|
||
Goldust M</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Dermatol</span>
|
||
2022 May;21(5):1895-1904.
|
||
Epub 2022 Feb 14
|
||
doi: 10.1111/jocd.14816.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35104917" target="_blank">35104917</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33759078">Rosacea: New Concepts in Classification and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Zuuren EJ,
|
||
Arents BWM,
|
||
van der Linden MMD,
|
||
Vermeulen S,
|
||
Fedorowicz Z,
|
||
Tan J</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2021 Jul;22(4):457-465.
|
||
Epub 2021 Mar 23
|
||
doi: 10.1007/s40257-021-00595-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33759078" target="_blank">33759078</a><a href="/pmc/articles/PMC8200341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32894695">Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faughnan ME,
|
||
Mager JJ,
|
||
Hetts SW,
|
||
Palda VA,
|
||
Lang-Robertson K,
|
||
Buscarini E,
|
||
Deslandres E,
|
||
Kasthuri RS,
|
||
Lausman A,
|
||
Poetker D,
|
||
Ratjen F,
|
||
Chesnutt MS,
|
||
Clancy M,
|
||
Whitehead KJ,
|
||
Al-Samkari H,
|
||
Chakinala M,
|
||
Conrad M,
|
||
Cortes D,
|
||
Crocione C,
|
||
Darling J,
|
||
de Gussem E,
|
||
Derksen C,
|
||
Dupuis-Girod S,
|
||
Foy P,
|
||
Geisthoff U,
|
||
Gossage JR,
|
||
Hammill A,
|
||
Heimdal K,
|
||
Henderson K,
|
||
Iyer VN,
|
||
Kjeldsen AD,
|
||
Komiyama M,
|
||
Korenblatt K,
|
||
McDonald J,
|
||
McMahon J,
|
||
McWilliams J,
|
||
Meek ME,
|
||
Mei-Zahav M,
|
||
Olitsky S,
|
||
Palmer S,
|
||
Pantalone R,
|
||
Piccirillo JF,
|
||
Plahn B,
|
||
Porteous MEM,
|
||
Post MC,
|
||
Radovanovic I,
|
||
Rochon PJ,
|
||
Rodriguez-Lopez J,
|
||
Sabba C,
|
||
Serra M,
|
||
Shovlin C,
|
||
Sprecher D,
|
||
White AJ,
|
||
Winship I,
|
||
Zarrabeitia R</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2020 Dec 15;173(12):989-1001.
|
||
Epub 2020 Sep 8
|
||
doi: 10.7326/M20-1443.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32894695" target="_blank">32894695</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22telangiectasia%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 (569)</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/32791865">Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirifar P,
|
||
Ranjouri MR,
|
||
Lavin M,
|
||
Abolhassani H,
|
||
Yazdani R,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
|
||
2020 Sep;16(9):859-871.
|
||
Epub 2020 Oct 15
|
||
doi: 10.1080/1744666X.2020.1810570.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32791865" target="_blank">32791865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28318010">Ataxia-telangiectasia: recommendations for multidisciplinary treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Os NJH,
|
||
Haaxma CA,
|
||
van der Flier M,
|
||
Merkus PJFM,
|
||
van Deuren M,
|
||
de Groot IJM,
|
||
Loeffen J,
|
||
van de Warrenburg BPC,
|
||
Willemsen MAAP;
|
||
A-T Study Group</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2017 Jul;59(7):680-689.
|
||
Epub 2017 Mar 20
|
||
doi: 10.1111/dmcn.13424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28318010" target="_blank">28318010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28298578">Hereditary Hemorrhagic Telangiectasia Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peterson J</span><br />
|
||
<span class="medgenPMjournal">Radiol Technol</span>
|
||
2017 Jan;88(3):277-294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28298578" target="_blank">28298578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26024602">Pulmonary vascular diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cummings KW,
|
||
Bhalla S</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2015 Jun;36(2):235-48, viii.
|
||
Epub 2015 Mar 26
|
||
doi: 10.1016/j.ccm.2015.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26024602" target="_blank">26024602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7712635">Ataxia-telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gatti RA</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
1995 Jan;13(1):1-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7712635" target="_blank">7712635</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Telangiectasia%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 (3931)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39622612">Ataxia telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collyer J,
|
||
Rajan DS</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2024 Dec;52:101169.
|
||
Epub 2024 Nov 19
|
||
doi: 10.1016/j.spen.2024.101169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39622612" target="_blank">39622612</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35431147">Ataxia-telangiectasia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortuna J,
|
||
Rodrigues AL,
|
||
Pires P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neonatol</span>
|
||
2022 Sep;63(5):551-552.
|
||
Epub 2022 Mar 23
|
||
doi: 10.1016/j.pedneo.2022.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35431147" target="_blank">35431147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28318010">Ataxia-telangiectasia: recommendations for multidisciplinary treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Os NJH,
|
||
Haaxma CA,
|
||
van der Flier M,
|
||
Merkus PJFM,
|
||
van Deuren M,
|
||
de Groot IJM,
|
||
Loeffen J,
|
||
van de Warrenburg BPC,
|
||
Willemsen MAAP;
|
||
A-T Study Group</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2017 Jul;59(7):680-689.
|
||
Epub 2017 Mar 20
|
||
doi: 10.1111/dmcn.13424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28318010" target="_blank">28318010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28298578">Hereditary Hemorrhagic Telangiectasia Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peterson J</span><br />
|
||
<span class="medgenPMjournal">Radiol Technol</span>
|
||
2017 Jan;88(3):277-294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28298578" target="_blank">28298578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21827897">Ataxia-telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perlman SL,
|
||
Boder Deceased E,
|
||
Sedgewick RP,
|
||
Gatti RA</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2012;103:307-32.
|
||
doi: 10.1016/B978-0-444-51892-7.00019-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21827897" target="_blank">21827897</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Telangiectasia%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 (4842)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38378898">Targeting ATR in patients with cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ngoi NYL,
|
||
Pilié PG,
|
||
McGrail DJ,
|
||
Zimmermann M,
|
||
Schlacher K,
|
||
Yap TA</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Clin Oncol</span>
|
||
2024 Apr;21(4):278-293.
|
||
Epub 2024 Feb 20
|
||
doi: 10.1038/s41571-024-00863-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38378898" target="_blank">38378898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36877098">Phase 3 Trial of Sotatercept for Treatment of Pulmonary Arterial Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoeper MM,
|
||
Badesch DB,
|
||
Ghofrani HA,
|
||
Gibbs JSR,
|
||
Gomberg-Maitland M,
|
||
McLaughlin VV,
|
||
Preston IR,
|
||
Souza R,
|
||
Waxman AB,
|
||
Grünig E,
|
||
Kopeć G,
|
||
Meyer G,
|
||
Olsson KM,
|
||
Rosenkranz S,
|
||
Xu Y,
|
||
Miller B,
|
||
Fowler M,
|
||
Butler J,
|
||
Koglin J,
|
||
de Oliveira Pena J,
|
||
Humbert M;
|
||
STELLAR Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2023 Apr 20;388(16):1478-1490.
|
||
Epub 2023 Mar 6
|
||
doi: 10.1056/NEJMoa2213558.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36877098" target="_blank">36877098</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33171488">Hereditary hemorrhagic telangiectasia: systemic therapies, guidelines, and an evolving standard of care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Samkari H</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2021 Feb 18;137(7):888-895.
|
||
doi: 10.1182/blood.2020008739.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33171488" target="_blank">33171488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30585305">Interventions for rosacea based on the phenotype approach: an updated systematic review including GRADE assessments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Zuuren EJ,
|
||
Fedorowicz Z,
|
||
Tan J,
|
||
van der Linden MMD,
|
||
Arents BWM,
|
||
Carter B,
|
||
Charland L</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2019 Jul;181(1):65-79.
|
||
Epub 2019 Mar 10
|
||
doi: 10.1111/bjd.17590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30585305" target="_blank">30585305</a><a href="/pmc/articles/PMC6850438" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29794143">Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kritharis A,
|
||
Al-Samkari H,
|
||
Kuter DJ</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2018 Sep;103(9):1433-1443.
|
||
Epub 2018 May 24
|
||
doi: 10.3324/haematol.2018.193003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29794143" target="_blank">29794143</a><a href="/pmc/articles/PMC6119150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Telangiectasia%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 (2558)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/33007522">Outer Foveal Microdefects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cohen SY,
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Mrejen S,
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Nghiem-Buffet S,
|
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Dubois L,
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Fajnkuchen F,
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Gaudric A</span><br />
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<span class="medgenPMjournal">Ophthalmol Retina</span>
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2021 Jun;5(6):553-561.
|
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Epub 2020 Sep 30
|
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doi: 10.1016/j.oret.2020.09.018.
|
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<span class="bold">PMID: </span><a href="/pubmed/33007522" target="_blank">33007522</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27150172">Pulmonary Arteriovenous Malformations and Risk of Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holzer RJ,
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Cua CL</span><br />
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<span class="medgenPMjournal">Cardiol Clin</span>
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2016 May;34(2):241-6.
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Epub 2016 Mar 18
|
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doi: 10.1016/j.ccl.2016.01.001.
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<span class="bold">PMID: </span><a href="/pubmed/27150172" target="_blank">27150172</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/9557787">Vesiculo-bullous dermatomyositis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">McCollough ML,
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1998 Apr;20(2):170-4.
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|
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<span class="bold">PMID: </span><a href="/pubmed/9557787" target="_blank">9557787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8950667">Pancreatic adenocarcinoma: epidemiology and genetics.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Flanders TY,
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1996 Nov;33(11):889-98.
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<span class="bold">PMID: </span><a href="/pubmed/8950667" target="_blank">8950667</a><a href="/pmc/articles/PMC1050781" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4834927">Pulmonary arteriovenous fistulas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dines DE,
|
||
Arms RA,
|
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<span class="bold">PMID: </span><a href="/pubmed/4834927" target="_blank">4834927</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Telangiectasia%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 (2178)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39292928">Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Samkari H,
|
||
Kasthuri RS,
|
||
Iyer VN,
|
||
Pishko AM,
|
||
Decker JE,
|
||
Weiss CR,
|
||
Whitehead KJ,
|
||
Conrad MB,
|
||
Zumberg MS,
|
||
Zhou JY,
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Parambil J,
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Marsh D,
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Clancy M,
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Bradley L,
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Carper BA,
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Thomas SM,
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McCrae KR</span><br />
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<span class="medgenPMjournal">N Engl J Med</span>
|
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2024 Sep 19;391(11):1015-1027.
|
||
doi: 10.1056/NEJMoa2312749.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39292928" target="_blank">39292928</a><a href="/pmc/articles/PMC11412318" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37303233">A sterol-PI(4)P exchanger modulates the Tel1/ATM axis of the DNA damage response.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ovejero S,
|
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Kumanski S,
|
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Soulet C,
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Azarli J,
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Pardo B,
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Santt O,
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Constantinou A,
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Pasero P,
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Moriel-Carretero M</span><br />
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<span class="medgenPMjournal">EMBO J</span>
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2023 Aug 1;42(15):e112684.
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Epub 2023 Jun 12
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doi: 10.15252/embj.2022112684.
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||
<span class="bold">PMID: </span><a href="/pubmed/37303233" target="_blank">37303233</a><a href="/pmc/articles/PMC10390878" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35772246">Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Graffeo R,
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Rana HQ,
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Conforti F,
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Bonanni B,
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Cardoso MJ,
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Paluch-Shimon S,
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Pagani O,
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Goldhirsch A,
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Partridge AH,
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<span class="medgenPMjournal">Breast</span>
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2022 Oct;65:32-40.
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Epub 2022 Jun 18
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doi: 10.1016/j.breast.2022.06.003.
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<span class="bold">PMID: </span><a href="/pubmed/35772246" target="_blank">35772246</a><a href="/pmc/articles/PMC9253488" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26896183">Longitudinal analysis of the neurological features of ataxia-telangiectasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jackson TJ,
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Chow G,
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Suri M,
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Byrd P,
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Taylor MR,
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Whitehouse WP</span><br />
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<span class="medgenPMjournal">Dev Med Child Neurol</span>
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2016 Jul;58(7):690-7.
|
||
Epub 2016 Feb 19
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doi: 10.1111/dmcn.13052.
|
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<span class="bold">PMID: </span><a href="/pubmed/26896183" target="_blank">26896183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/687181">Ataxia telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teplitz RL</span><br />
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<span class="medgenPMjournal">Arch Neurol</span>
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1978 Sep;35(9):553-4.
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doi: 10.1001/archneur.1978.00500330001001.
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<span class="bold">PMID: </span><a href="/pubmed/687181" target="_blank">687181</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Telangiectasia%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 (3543)</a></div></div>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/36161591">Laser therapy for treating hypertrophic and keloid scars.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leszczynski R,
|
||
da Silva CA,
|
||
Pinto ACPN,
|
||
Kuczynski U,
|
||
da Silva EM</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Sep 26;9(9):CD011642.
|
||
doi: 10.1002/14651858.CD011642.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36161591" target="_blank">36161591</a><a href="/pmc/articles/PMC9511989" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/35076997">Post-acne erythema treatment: A systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalantari Y,
|
||
Dadkhahfar S,
|
||
Etesami I</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Dermatol</span>
|
||
2022 Apr;21(4):1379-1392.
|
||
Epub 2022 Feb 3
|
||
doi: 10.1111/jocd.14804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35076997" target="_blank">35076997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34609598">Intense Pulsed Light on skin rejuvenation: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sales AFS,
|
||
Pandolfo IL,
|
||
de Almeida Cruz M,
|
||
Parisi JR,
|
||
Garcia LA,
|
||
Martignago CCS,
|
||
Renno ACM,
|
||
Vassão PG</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol Res</span>
|
||
2022 Nov;314(9):823-838.
|
||
Epub 2021 Oct 5
|
||
doi: 10.1007/s00403-021-02283-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34609598" target="_blank">34609598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31706938">Dermoscopic features of basal cell carcinoma and its subtypes: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reiter O,
|
||
Mimouni I,
|
||
Dusza S,
|
||
Halpern AC,
|
||
Leshem YA,
|
||
Marghoob AA</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2021 Sep;85(3):653-664.
|
||
Epub 2019 Nov 7
|
||
doi: 10.1016/j.jaad.2019.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31706938" target="_blank">31706938</a><a href="/pmc/articles/PMC9366765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33202063">Interventions for basal cell carcinoma of the skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomson J,
|
||
Hogan S,
|
||
Leonardi-Bee J,
|
||
Williams HC,
|
||
Bath-Hextall FJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Nov 17;11(11):CD003412.
|
||
doi: 10.1002/14651858.CD003412.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33202063" target="_blank">33202063</a><a href="/pmc/articles/PMC8164471" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Telangiectasia%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 (91)</a></div></div>
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