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<!--
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||
UID=340426
|
||
ConceptID=C1849923
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Generalized hypopigmentation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340426</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.">C1849923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Pale pigmentation</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007513">HP:0007513</a></td></tr>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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=C1849923[DISCUI]&test_type=Clinical" ref="ncbi_uid=340426">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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340426" ref="ncbi_uid=340426">V</a></span></span><span class="TLline">Generalized hypopigmentation</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/224697" ref="tree=MeSH" title="MedGen record for Abnormality of skin pigmentation">Abnormality of skin pigmentation</a></span><ul><li><span class="TLline"><a href="/medgen/102477" ref="tree=MeSH" title="MedGen record for Hypopigmentation of the skin">Hypopigmentation of the skin</a></span><ul><li><span class="matched_ds">Generalized hypopigmentation</span><ul><li><span class="TLline"><a href="/medgen/182" ref="tree=MeSH" title="MedGen record for Albinism">Albinism</a></span><ul><li><span class="TLline"><a href="/medgen/3347" ref="tree=MeSH" title="MedGen record for Chédiak-Higashi syndrome">Chédiak-Higashi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/193" ref="tree=MeSH" title="MedGen record for Aleutian disease">Aleutian disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/38147" ref="tree=MeSH" title="MedGen record for Ocular albinism">Ocular albinism</a></span><ul><li><span class="TLline"><a href="/medgen/337149" ref="tree=MeSH" title="MedGen record for Ocular albinism with late-onset sensorineural deafness">Ocular albinism with late-onset sensorineural deafness</a></span></li><li><span class="TLline"><a href="/medgen/90991" ref="tree=MeSH" title="MedGen record for Ocular albinism, type I">Ocular albinism, type I</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/36250" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism">Oculocutaneous albinism</a></span><ul><li><span class="TLline"><a href="/medgen/36313" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome">Hermansky-Pudlak syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82809" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 1">Oculocutaneous albinism type 1</a></span></li><li><span class="TLline"><a href="/medgen/87450" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 3">Oculocutaneous albinism type 3</a></span></li><li><span class="TLline"><a href="/medgen/338324" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 4">Oculocutaneous albinism type 4</a></span></li><li><span class="TLline"><a href="/medgen/854888" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 5">Oculocutaneous albinism type 5</a></span></li><li><span class="TLline"><a href="/medgen/811705" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 6">Oculocutaneous albinism type 6</a></span></li><li><span class="TLline"><a href="/medgen/815116" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 7">Oculocutaneous albinism type 7</a></span></li><li><span class="TLline"><a href="/medgen/1754121" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 8">Oculocutaneous albinism type 8</a></span></li><li><span class="TLline"><a href="/medgen/1643910" ref="tree=MeSH" title="MedGen record for Tyrosinase-negative oculocutaneous albinism">Tyrosinase-negative oculocutaneous albinism</a></span></li><li><span class="TLline"><a href="/medgen/82810" ref="tree=MeSH" title="MedGen record for Tyrosinase-positive oculocutaneous albinism">Tyrosinase-positive oculocutaneous albinism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/36361" ref="tree=MeSH" title="MedGen record for Piebaldism">Piebaldism</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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_19244"><div><strong>Phenylketonuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19244</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.">C0031485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1,200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19244">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_46057"><div><strong>Prader-Willi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46057</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.">C0032897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prader-Willi syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, followed in early childhood by excessive eating and gradual development of morbid obesity (unless food intake is strictly controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone). A distinctive behavioral phenotype (temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Characteristic facial features, strabismus, and scoliosis are often present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/46057">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98213"><div><strong>Tietz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98213</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.">C0391816</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tietz albinism-deafness syndrome (TADS) is characterized by generalized pigment loss and congenital complete sensorineural hearing loss (summary by Izumi et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98213">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374912"><div><strong>Hermansky-Pudlak syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374912</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.">C1842362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374912">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343663"><div><strong>Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343663</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.">C1851841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343663">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347666"><div><strong>Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347666</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.">C1858562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347666">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811705"><div><strong>Oculocutaneous albinism type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811705</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.">C3805375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder, with a worldwide prevalence of approximately 1:17,000. It manifests as a reduction or complete loss of melanin in the skin, hair, and eyes, often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus (summary by Wei et al., 2013). For a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100). For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see SHEP1 (227220).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811705">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854728"><div><strong>Hermansky-Pudlak syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854728</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.">C3888026</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854728">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934592"><div><strong>Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934592</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.">C4310625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934592">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1644087"><div><strong>Trichohepatoenteric syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644087</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.">C4551982</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644087">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1784590"><div><strong>Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784590</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.">C5543375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality (Ito et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784590">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocutaneous albinism type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_19244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phenylketonuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_46057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prader-Willi syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98213" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tietz syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichohepatoenteric syndrome 1</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/37375394">Skin Pigmentation Types, Causes and Treatment-A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thawabteh AM,
|
||
Jibreen A,
|
||
Karaman D,
|
||
Thawabteh A,
|
||
Karaman R</span><br />
|
||
<span class="medgenPMjournal">Molecules</span>
|
||
2023 Jun 18;28(12)
|
||
doi: 10.3390/molecules28124839.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37375394" target="_blank">37375394</a><a href="/pmc/articles/PMC10304091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31777350">Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marçon CR,
|
||
Maia M</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2019 Sep-Oct;94(5):503-520.
|
||
Epub 2019 Sep 30
|
||
doi: 10.1016/j.abd.2019.09.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31777350" target="_blank">31777350</a><a href="/pmc/articles/PMC6857599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29431372">Pigmentation Disorders: Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plensdorf S,
|
||
Livieratos M,
|
||
Dada N</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Dec 15;96(12):797-804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29431372" target="_blank">29431372</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(generalized%20hypopigmentation)%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 (129)</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/15987013">Imatinib mesylate in chronic myeloid leukemia: a prospective, single arm, non-randomized study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deshmukh C,
|
||
Saikia T,
|
||
Bakshi A,
|
||
Amare-Kadam P,
|
||
Baisane C,
|
||
Parikh P</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2005 Apr;53:291-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15987013" target="_blank">15987013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14722913">Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rundshagen U,
|
||
Zühlke C,
|
||
Opitz S,
|
||
Schwinger E,
|
||
Käsmann-Kellner B</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2004 Feb;23(2):106-110.
|
||
doi: 10.1002/humu.10311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14722913" target="_blank">14722913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11574907">Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newton JM,
|
||
Cohen-Barak O,
|
||
Hagiwara N,
|
||
Gardner JM,
|
||
Davisson MT,
|
||
King RA,
|
||
Brilliant MH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2001 Nov;69(5):981-8.
|
||
Epub 2001 Sep 26
|
||
doi: 10.1086/324340.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11574907" target="_blank">11574907</a><a href="/pmc/articles/PMC1274374" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20hypopigmentation%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35854334">Genetic etiology and clinical challenges of phenylketonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elhawary NA,
|
||
AlJahdali IA,
|
||
Abumansour IS,
|
||
Elhawary EN,
|
||
Gaboon N,
|
||
Dandini M,
|
||
Madkhali A,
|
||
Alosaimi W,
|
||
Alzahrani A,
|
||
Aljohani F,
|
||
Melibary EM,
|
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Kensara OA</span><br />
|
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<span class="medgenPMjournal">Hum Genomics</span>
|
||
2022 Jul 19;16(1):22.
|
||
doi: 10.1186/s40246-022-00398-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35854334" target="_blank">35854334</a><a href="/pmc/articles/PMC9295449" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33180345">Case of vitiligo universalis as a sequela of drug-induced hypersensitivity syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiang PH,
|
||
Ng CY,
|
||
Kuo TT,
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Hui RC,
|
||
Chen CB,
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||
Lu CW,
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Chung WH</span><br />
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<span class="medgenPMjournal">J Dermatol</span>
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2021 Jan;48(1):92-95.
|
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Epub 2020 Nov 12
|
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doi: 10.1111/1346-8138.15562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33180345" target="_blank">33180345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27609337">Nivolumab-induced vitiligo in a metastatic melanoma patient: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edmondson LA,
|
||
Smith LV,
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Mallik A</span><br />
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<span class="medgenPMjournal">J Oncol Pharm Pract</span>
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2017 Dec;23(8):629-634.
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Epub 2016 Sep 8
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doi: 10.1177/1078155216667636.
|
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<span class="bold">PMID: </span><a href="/pubmed/27609337" target="_blank">27609337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25780981">Elejalde syndrome (ES).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammadzadeh Shanehsaz S,
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Rezazadeh A,
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Dandashli A</span><br />
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<span class="medgenPMjournal">Dermatol Online J</span>
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2015 Feb 22;21(3)
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<span class="bold">PMID: </span><a href="/pubmed/25780981" target="_blank">25780981</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17710870">Elejalde syndrome: clinical and histopathological findings in an Egyptian male.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Afifi HH,
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Zaki MS,
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El-Kamah GY,
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El-Darouti M</span><br />
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<span class="medgenPMjournal">Genet Couns</span>
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2007;18(2):179-88.
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<span class="bold">PMID: </span><a href="/pubmed/17710870" target="_blank">17710870</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20hypopigmentation%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 (5)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35854334">Genetic etiology and clinical challenges of phenylketonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elhawary NA,
|
||
AlJahdali IA,
|
||
Abumansour IS,
|
||
Elhawary EN,
|
||
Gaboon N,
|
||
Dandini M,
|
||
Madkhali A,
|
||
Alosaimi W,
|
||
Alzahrani A,
|
||
Aljohani F,
|
||
Melibary EM,
|
||
Kensara OA</span><br />
|
||
<span class="medgenPMjournal">Hum Genomics</span>
|
||
2022 Jul 19;16(1):22.
|
||
doi: 10.1186/s40246-022-00398-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35854334" target="_blank">35854334</a><a href="/pmc/articles/PMC9295449" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28481685">A case series of imatinib-induced generalized hypopigmentation and progression of existing acquired dermal melanocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kok WL,
|
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Chen Q,
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Lee SSJ,
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||
Chua SH,
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Ng SK</span><br />
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<span class="medgenPMjournal">J Dermatolog Treat</span>
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||
2017 Dec;28(8):762-763.
|
||
Epub 2017 May 16
|
||
doi: 10.1080/09546634.2017.1328099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28481685" target="_blank">28481685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27609337">Nivolumab-induced vitiligo in a metastatic melanoma patient: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edmondson LA,
|
||
Smith LV,
|
||
Mallik A</span><br />
|
||
<span class="medgenPMjournal">J Oncol Pharm Pract</span>
|
||
2017 Dec;23(8):629-634.
|
||
Epub 2016 Sep 8
|
||
doi: 10.1177/1078155216667636.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27609337" target="_blank">27609337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15987013">Imatinib mesylate in chronic myeloid leukemia: a prospective, single arm, non-randomized study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deshmukh C,
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Saikia T,
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Bakshi A,
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Amare-Kadam P,
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Baisane C,
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Parikh P</span><br />
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<span class="medgenPMjournal">J Assoc Physicians India</span>
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2005 Apr;53:291-5.
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<span class="bold">PMID: </span><a href="/pubmed/15987013" target="_blank">15987013</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20hypopigmentation%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27416089">Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galve J,
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Martín-Santiago A,
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Clavero C,
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Saus C,
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Alfaro-Arenas R,
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Pérez-Granero A,
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Balliu PR,
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Ferrando J</span><br />
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||
<span class="medgenPMjournal">Cutis</span>
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||
2016 Jun;97(6):E1-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27416089" target="_blank">27416089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11574907">Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newton JM,
|
||
Cohen-Barak O,
|
||
Hagiwara N,
|
||
Gardner JM,
|
||
Davisson MT,
|
||
King RA,
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||
Brilliant MH</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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||
2001 Nov;69(5):981-8.
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||
Epub 2001 Sep 26
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||
doi: 10.1086/324340.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11574907" target="_blank">11574907</a><a href="/pmc/articles/PMC1274374" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20hypopigmentation%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39809949">A patient with TPCN2-related hypopigmentation and ocular phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Courdier C,
|
||
Michaud V,
|
||
Diallo M,
|
||
Plaisant C,
|
||
Lasseaux E,
|
||
Helot I,
|
||
Philippe E,
|
||
Vrielynck E,
|
||
Willems M,
|
||
Arveiler B</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2025 Mar;33(3):383-386.
|
||
Epub 2025 Jan 14
|
||
doi: 10.1038/s41431-024-01779-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39809949" target="_blank">39809949</a><a href="/pmc/articles/PMC11894100" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38439523">Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamoto K,
|
||
Okamura K,
|
||
Wakamatsu K,
|
||
Ito S,
|
||
Akabane K,
|
||
Arai Y,
|
||
Kawaguchi J,
|
||
Hozumi Y,
|
||
Suzuki T</span><br />
|
||
<span class="medgenPMjournal">Pigment Cell Melanoma Res</span>
|
||
2024 Jul;37(4):430-437.
|
||
Epub 2024 Mar 4
|
||
doi: 10.1111/pcmr.13166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38439523" target="_blank">38439523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25780981">Elejalde syndrome (ES).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammadzadeh Shanehsaz S,
|
||
Rezazadeh A,
|
||
Dandashli A</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2015 Feb 22;21(3)
|
||
<span class="bold">PMID: </span><a href="/pubmed/25780981" target="_blank">25780981</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11574907">Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newton JM,
|
||
Cohen-Barak O,
|
||
Hagiwara N,
|
||
Gardner JM,
|
||
Davisson MT,
|
||
King RA,
|
||
Brilliant MH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2001 Nov;69(5):981-8.
|
||
Epub 2001 Sep 26
|
||
doi: 10.1086/324340.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11574907" target="_blank">11574907</a><a href="/pmc/articles/PMC1274374" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20hypopigmentation%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
||
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|
||
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|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1849923%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1849923%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1849923%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Generalized%20hypopigmentation" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(generalized%20hypopigmentation)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Generalized%20hypopigmentation" target="_blank">MedlinePlus</a></li></ul></div>
|
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<div class="portlet_head">
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<ul>
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<li>
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||
<a href="/pubmed/clinical?term=Generalized%20hypopigmentation" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
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</li>
|
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<li>
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<a href="/pubmed?term=Generalized%20hypopigmentation%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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</li>
|
||
</ul>
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<h3>Related information</h3>
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||
</div>
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