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<meta name="keywords" content="C0079504, albinism with hemorrhagic diathesis, albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, alpha storage pool disease, disease or syndrome, hepatopulmonary syndrome, hermanski pudlak syndrome, hermanski-pudlak syndrome, hermansky pudlak syndrome, hermansky-pudlak syndrome, hps, hps (hermansky pudlak syndrome), 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=36313
|
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ConceptID=C0079504
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hermansky-Pudlak syndrome<span class="h1sub">(HPS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36313</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.">C0079504</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS; HPS</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hermansky-Pudlak syndrome (9311003); Albinism with hemorrhagic diathesis (9311003); Alpha storage pool disease (9311003); Hermansky Pudlak syndrome (9311003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/388552">BLOC1S3</a>, <a target="_blank" href="/gene/89781">HPS4</a>, <a target="_blank" href="/gene/84343">HPS3</a>, <a target="_blank" href="/gene/84062">DTNBP1</a>, <a target="_blank" href="/gene/79803">HPS6</a>, <a target="_blank" href="/gene/26258">BLOC1S6</a>, <a target="_blank" href="/gene/11234">HPS5</a>, <a target="_blank" href="/gene/8943">AP3D1</a>, <a target="_blank" href="/gene/8546">AP3B1</a>, <a target="_blank" href="/gene/3257">HPS1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019312" target="_blank">MONDO:0019312</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS203300" target="_blank">PS203300</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79430">ORPHA79430</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1287" target="_blank">Hermansky-Pudlak Syndrome</a></div><div>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. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1287#hps.Summary" target="NBK1287">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1287#hps.Diagnosis" target="NBK1287">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1287#hps.Clinical_Characteristics" target="NBK1287">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1287#hps.Genetically_Related_Allelic_Disorder" target="NBK1287">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1287#hps.Differential_Diagnosis" target="NBK1287">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1287#hps.Management" target="NBK1287">Management</a> | <a class="medgenPMinfo" href="/books/NBK1287#hps.Genetic_Counseling" target="NBK1287">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1287#hps.Resources" target="NBK1287">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1287#hps.Molecular_Genetics" target="NBK1287">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1287#hps.Chapter_Notes" target="NBK1287">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1287#hps.References" target="NBK1287">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Wendy J Introne | Marjan Huizing | May Christine V Malicdan<i>, et. al.</i> <a href="/books/NBK1287" target="NBK1287" title="NCBI Bookshelf: Hermansky-Pudlak Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.<br /><br />People with Hermansky-Pudlak syndrome also have problems with blood clotting (coagulation) that lead to easy bruising and prolonged bleeding.<br /><br />There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms. Little is known about the signs, symptoms, and severity of types 7, 8, and 9.<br /><br />Some individuals with Hermansky-Pudlak syndrome develop breathing problems due to a lung disease called pulmonary fibrosis, which causes scar tissue to form in the lungs. The symptoms of pulmonary fibrosis usually appear during an individual's early thirties and rapidly worsen. Individuals with Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for more than a decade after they begin to experience breathing problems.<br /><br />Other, less common features of Hermansky-Pudlak syndrome include inflammation of the large intestine (granulomatous colitis) and kidney failure. <a target="_blank" href="https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome">https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome</a></div></div>
|
||
</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=C0079504[DISCUI]&test_type=Clinical" ref="ncbi_uid=36313">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1287/" ref="ncbi_uid=36313">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=36313" ref="ncbi_uid=36313">V</a></span></span><span class="TLline">Hermansky-Pudlak syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931875[DISCUI]&test_type=Clinical" ref="ncbi_uid=419514">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419514" target="_blank" href="/omim/203300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1287/" ref="ncbi_uid=419514">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419514" ref="ncbi_uid=419514">V</a></span></span><span class="TLline"><a href="/medgen/419514" ref="tree=GTR&ncbi_uid=419514&link_uid=419514" title="View MedGen record for 'Hermansky-Pudlak syndrome 1'">Hermansky-Pudlak syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842362[DISCUI]&test_type=Clinical" ref="ncbi_uid=374912">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374912" target="_blank" href="/omim/603401">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1287/" ref="ncbi_uid=374912">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374912" ref="ncbi_uid=374912">V</a></span></span><span class="TLline"><a href="/medgen/374912" ref="tree=GTR&ncbi_uid=374912&link_uid=374912" title="View MedGen record for 'Hermansky-Pudlak syndrome 2'">Hermansky-Pudlak syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888001[DISCUI]&test_type=Clinical" ref="ncbi_uid=854708">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854708" target="_blank" href="/omim/606118">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1287/" ref="ncbi_uid=854708">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854708" ref="ncbi_uid=854708">V</a></span></span><span class="TLline"><a href="/medgen/854708" ref="tree=GTR&ncbi_uid=854708&link_uid=854708" title="View MedGen record for 'Hermansky-Pudlak syndrome 3'">Hermansky-Pudlak syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3484357[DISCUI]&test_type=Clinical" ref="ncbi_uid=483344">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=483344" target="_blank" href="/omim/606682">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1287/" ref="ncbi_uid=483344">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=483344" ref="ncbi_uid=483344">V</a></span></span><span class="TLline"><a href="/medgen/483344" ref="tree=GTR&ncbi_uid=483344&link_uid=483344" title="View MedGen record for 'Hermansky-Pudlak syndrome 4'">Hermansky-Pudlak syndrome 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888004[DISCUI]&test_type=Clinical" ref="ncbi_uid=854711">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854711" target="_blank" href="/omim/607521">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1287/" ref="ncbi_uid=854711">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854711" ref="ncbi_uid=854711">V</a></span></span><span class="TLline"><a href="/medgen/854711" ref="tree=GTR&ncbi_uid=854711&link_uid=854711" title="View MedGen record for 'Hermansky-Pudlak syndrome 5'">Hermansky-Pudlak syndrome 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888007[DISCUI]&test_type=Clinical" ref="ncbi_uid=854714">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854714" target="_blank" href="/omim/607522">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1287/" ref="ncbi_uid=854714">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854714" ref="ncbi_uid=854714">V</a></span></span><span class="TLline"><a href="/medgen/854714" ref="tree=GTR&ncbi_uid=854714&link_uid=854714" title="View MedGen record for 'Hermansky-Pudlak syndrome 6'">Hermansky-Pudlak syndrome 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279756[DISCUI]&test_type=Clinical" ref="ncbi_uid=481386">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481386" target="_blank" href="/omim/607145">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1287/" ref="ncbi_uid=481386">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481386" ref="ncbi_uid=481386">V</a></span></span><span class="TLline"><a href="/medgen/481386" ref="tree=GTR&ncbi_uid=481386&link_uid=481386" title="View MedGen record for 'Hermansky-Pudlak syndrome 7'">Hermansky-Pudlak syndrome 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888026[DISCUI]&test_type=Clinical" ref="ncbi_uid=854728">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854728" target="_blank" href="/omim/609762">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1287/" ref="ncbi_uid=854728">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854728" ref="ncbi_uid=854728">V</a></span></span><span class="TLline"><a href="/medgen/854728" ref="tree=GTR&ncbi_uid=854728&link_uid=854728" title="View MedGen record for 'Hermansky-Pudlak syndrome 8'">Hermansky-Pudlak syndrome 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280026[DISCUI]&test_type=Clinical" ref="ncbi_uid=481656">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481656" target="_blank" href="/omim/604310">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1287/" ref="ncbi_uid=481656">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481656" ref="ncbi_uid=481656">V</a></span></span><span class="TLline"><a href="/medgen/481656" ref="tree=GTR&ncbi_uid=481656&link_uid=481656" title="View MedGen record for 'Hermansky-Pudlak syndrome 9'">Hermansky-Pudlak syndrome 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310746[DISCUI]&test_type=Clinical" ref="ncbi_uid=934713">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934713" target="_blank" href="/omim/607246">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1287/" ref="ncbi_uid=934713">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934713" ref="ncbi_uid=934713">V</a></span></span><span class="TLline"><a href="/medgen/934713" ref="tree=GTR&ncbi_uid=934713&link_uid=934713" title="View MedGen record for 'Hermansky-Pudlak syndrome 10'">Hermansky-Pudlak syndrome 10</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842467" ref="tree=MeSH" title="MedGen record for Dense granule disease">Dense granule disease</a></span><ul><li><span class="matched_ds">Hermansky-Pudlak syndrome</span><ul><li><span class="TLline"><a href="/medgen/419514" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 1">Hermansky-Pudlak syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/374912" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 2">Hermansky-Pudlak syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/854708" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 3">Hermansky-Pudlak syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/483344" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 4">Hermansky-Pudlak syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/854711" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 5">Hermansky-Pudlak syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/854714" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 6">Hermansky-Pudlak syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/481386" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 7">Hermansky-Pudlak syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/854728" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 8">Hermansky-Pudlak syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/481656" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 9">Hermansky-Pudlak syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/934713" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 10">Hermansky-Pudlak syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1843223" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome with pulmonary fibrosis">Hermansky-Pudlak syndrome with pulmonary fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/1842321" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome without pulmonary fibrosis">Hermansky-Pudlak syndrome without pulmonary fibrosis</a></span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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||
<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/36640015">Successful treatment of pulmonary hypertension with macitentan in a patient with Hermansky-Pudlak syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torun A,
|
||
Erdem A,
|
||
Oguz M,
|
||
Cinar T</span><br />
|
||
<span class="medgenPMjournal">Kardiol Pol</span>
|
||
2023;81(3):300-301.
|
||
Epub 2023 Jan 14
|
||
doi: 10.33963/KP.a2023.0012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36640015" target="_blank">36640015</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33641308">Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Zamani R,
|
||
Shahkarami S,
|
||
Rezaei N</span><br />
|
||
<span class="medgenPMjournal">Allergol Immunopathol (Madr)</span>
|
||
2021;49(2):178-190.
|
||
Epub 2021 Mar 1
|
||
doi: 10.15586/aei.v49i2.61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33641308" target="_blank">33641308</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16734315">Hermansky-Pudlak syndrome: dental management considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feliciano NZ,
|
||
Rivera E,
|
||
Agrait E,
|
||
Rodriguez K</span><br />
|
||
<span class="medgenPMjournal">J Dent Child (Chic)</span>
|
||
2006 Jan-Apr;73(1):51-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16734315" target="_blank">16734315</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hermansky-pudlak%20syndrome%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 (15)</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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389333">Genetics of Skin Cancer (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389333" target="_blank">26389333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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/33521972">The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Obeng-Tuudah D,
|
||
Hussein BA,
|
||
Hakim A,
|
||
Gomez K,
|
||
Abdul Kadir R</span><br />
|
||
<span class="medgenPMjournal">Int J Gynaecol Obstet</span>
|
||
2021 Sep;154(3):412-426.
|
||
Epub 2021 Mar 9
|
||
doi: 10.1002/ijgo.13632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33521972" target="_blank">33521972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31898847">Hermansky-Pudlak syndrome: Mutation update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huizing M,
|
||
Malicdan MCV,
|
||
Wang JA,
|
||
Pri-Chen H,
|
||
Hess RA,
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||
Fischer R,
|
||
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<div class="portlet mgSection" id="ID_104">
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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="portlet_content ln">
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|
||
<span class="bold">PMID: </span><a href="/pubmed/34919300" target="_blank">34919300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33521972">The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Obeng-Tuudah D,
|
||
Hussein BA,
|
||
Hakim A,
|
||
Gomez K,
|
||
Abdul Kadir R</span><br />
|
||
<span class="medgenPMjournal">Int J Gynaecol Obstet</span>
|
||
2021 Sep;154(3):412-426.
|
||
Epub 2021 Mar 9
|
||
doi: 10.1002/ijgo.13632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33521972" target="_blank">33521972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29997245">Systematic review of drug effects in humans and models with surfactant-processing disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klay D,
|
||
Hoffman TW,
|
||
Harmsze AM,
|
||
Grutters JC,
|
||
van Moorsel CHM</span><br />
|
||
<span class="medgenPMjournal">Eur Respir Rev</span>
|
||
2018 Sep 30;27(149)
|
||
Epub 2018 Jul 11
|
||
doi: 10.1183/16000617.0135-2017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29997245" target="_blank">29997245</a><a href="/pmc/articles/PMC9489115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hermansky-Pudlak%20syndrome%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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||
<div class=" bottom">
|
||
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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>
|
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|
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
|
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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_content ln"><ul id="my-toc"></ul></div>
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|
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0079504%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0079504%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0079504%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0079504%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0079504%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C0079504%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0079504%5bDISCUI%5d" target="_blank">See all (24)</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://www.omim.org/phenotypicSeries/PS203300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79430" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hermansky-Pudlak%20syndrome" 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=(%22hermansky-pudlak%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hermansky-Pudlak%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hermansky-Pudlak+syndrome/3391" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hermansky_pudlak_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hermansky-Pudlak%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6643/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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<a href="/pubmed/20301464" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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|
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<a href="/pubmed/clinical?term=Hermansky-Pudlak%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Hermansky-Pudlak%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0079504[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="ralinkpop offscreen_noflow">RecName: Full=BLOC-2 complex member HPS6; AltName: Full=Hermansky-Pudlak syndrome 6 protein; AltName: Full=Ruby-eye protein homolog; Short=Ru<div class="brieflinkpopdesc">gi|47115774|sp|Q86YV9.1|HPS6_HUMAN</div></div>
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