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<meta name="keywords" content="C0796037, cataract mental retardation hypogonadism, cataract, mental retardation, hypogonadism, cataract-mental retardation-hypogonadism, congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome, disease or syndrome, marts, martsolf 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="RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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UID=208658
|
||
ConceptID=C0796037
|
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-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK475670/bin/rab18-def-Image001.gif" src-large="/books/NBK475670/bin/rab18-def-Image001.jpg" /></a><br /><a href="/books/NBK475670/figure/rab18-def.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Martsolf syndrome<span class="h1sub">(MARTS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208658</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0796037</span></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>Cataract mental retardation hypogonadism; Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome; MARTS</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (722380003); Martsolf syndrome (722380003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0023910" target="_blank">MONDO:0023910</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/212720" target="_blank">212720</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS212720" target="_blank">PS212720</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>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK475670" target="_blank">RAB18 Deficiency</a></div><div>RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus. [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/NBK475670#rab18-def.Summary" target="NBK475670">Summary</a> | <a class="medgenPMinfo" href="/books/NBK475670#rab18-def.GeneReview_Scope" target="NBK475670">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK475670#rab18-def.Diagnosis" target="NBK475670">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK475670#rab18-def.Clinical_Characteristics" target="NBK475670">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK475670#rab18-def.Genetically_Related_Allelic_Di" target="NBK475670">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK475670#rab18-def.Differential_Diagnosis" target="NBK475670">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK475670#rab18-def.Management" target="NBK475670">Management</a> | <a class="medgenPMinfo" href="/books/NBK475670#rab18-def.Genetic_Counseling" target="NBK475670">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK475670#rab18-def.Resources" target="NBK475670">Resources</a> | <a class="medgenPMinfo" href="/books/NBK475670#rab18-def.Molecular_Genetics" target="NBK475670">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK475670#rab18-def.References" target="NBK475670">References</a> | <a class="medgenPMinfo" href="/books/NBK475670#rab18-def.Chapter_Notes" target="NBK475670">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Mark Handley | Eamonn Sheridan <a href="/books/NBK475670" target="NBK475670" title="NCBI Bookshelf: RAB18 Deficiency">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 />RAB18 deficiency causes two conditions with similar signs and symptoms that primarily affect the eyes, brain, and reproductive system. These two conditions, called Warburg micro syndrome and Martsolf syndrome, were once thought to be distinct disorders but are now considered to be part of the same disease spectrum because of their similar features and shared genetic cause.<br /><br />Warburg micro syndrome is the more severe condition. Individuals with this condition have several eye problems from birth, including clouding of the lenses of the eyes (cataracts), abnormally small eyes (microphthalmia), and small corneas (microcornea). The lens is a structure at the front of the eye that helps focus light, and the cornea is the outer covering of the eye. In addition, the pupils of the eyes may be abnormally small (constricted), and they may not enlarge (dilate) in low light. Individuals with Warburg micro syndrome also have degeneration of the nerves that carry visual information from the eyes to the brain (optic atrophy). The eye problems impair vision in affected individuals.<br /><br />Neither Warburg micro syndrome nor Martsolf syndrome affect the life expectancy of affected individuals.<br /><br />People with Warburg micro syndrome have severe intellectual disability and other neurological features due to problems with growth and development of the brain. Affected individuals have delayed development and may never be able to sit, stand, walk, or speak. They usually have weak muscle tone (hypotonia) in infancy. By early childhood, they develop muscle stiffness (spasticity) and joint deformities (contractures) that restrict movement in the legs. The muscle problems worsen (progress) to include the arms and lead to paralysis of all four limbs (spastic quadriplegia). Eventually, breathing may be impaired. The brain abnormalities can contribute to vision problems (cortical visual impairment). Individuals with Warburg micro syndrome may also have recurrent seizures (epilepsy).<br /><br />Some people with Warburg micro syndrome have reduced production of the hormones that direct sexual development (hypogonadotropic hypogonadism). The shortage of these hormones impairs normal development of reproductive organs. Affected males may have a small penis (micropenis) or undescended testes (cryptorchidism). Affected females may have underdeveloped internal genital folds (labia minora) or a small clitoris or vaginal opening (introitus).<br /><br />Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. Individuals with Martsolf syndrome have cataracts, microphthalmia, and small pupils. They have milder optic atrophy and cortical visual impairment than people with Warburg micro syndrome. Intellectual disability is mild to moderate in people with Martsolf syndrome. While language and motor skills, such as sitting and walking, are delayed, affected individuals usually acquire them. Hypotonia is common in infants with Martsolf syndrome, although spasticity worsens more slowly than in individuals with Warburg micro syndrome, and it usually affects only the legs and feet. Hypogonadotropic hypogonadism can also occur in individuals with Martsolf syndrome. <a target="_blank" href="https://medlineplus.gov/genetics/condition/rab18-deficiency">https://medlineplus.gov/genetics/condition/rab18-deficiency</a></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/23420520">Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Handley MT,
|
||
Morris-Rosendahl DJ,
|
||
Brown S,
|
||
Macdonald F,
|
||
Hardy C,
|
||
Bem D,
|
||
Carpanini SM,
|
||
Borck G,
|
||
Martorell L,
|
||
Izzi C,
|
||
Faravelli F,
|
||
Accorsi P,
|
||
Pinelli L,
|
||
Basel-Vanagaite L,
|
||
Peretz G,
|
||
Abdel-Salam GM,
|
||
Zaki MS,
|
||
Jansen A,
|
||
Mowat D,
|
||
Glass I,
|
||
Stewart H,
|
||
Mancini G,
|
||
Lederer D,
|
||
Roscioli T,
|
||
Giuliano F,
|
||
Plomp AS,
|
||
Rolfs A,
|
||
Graham JM,
|
||
Seemanova E,
|
||
Poo P,
|
||
García-Cazorla A,
|
||
Edery P,
|
||
Jackson IJ,
|
||
Maher ER,
|
||
Aligianis IA</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2013 May;34(5):686-96.
|
||
doi: 10.1002/humu.22296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23420520" target="_blank">23420520</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22martsolf%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 (1)</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">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32376645">Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu W,
|
||
Plummer L,
|
||
Quinton R,
|
||
Swords F,
|
||
Crowley WF,
|
||
Seminara SB,
|
||
Balasubramanian R</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2020 Jun;6(3)
|
||
Epub 2020 Jun 12
|
||
doi: 10.1101/mcs.a005033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32376645" target="_blank">32376645</a><a href="/pmc/articles/PMC7304352" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27256633">Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trkova M,
|
||
Hynek M,
|
||
Dudakova L,
|
||
Becvarova V,
|
||
Hlozanek M,
|
||
Raskova D,
|
||
Vincent AL,
|
||
Liskova P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Jul;170(7):1843-8.
|
||
Epub 2016 Jun 3
|
||
doi: 10.1002/ajmg.a.37685.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27256633" target="_blank">27256633</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18463892">Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corbeel L,
|
||
Freson K</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2008 Jul;167(7):723-9.
|
||
Epub 2008 May 8
|
||
doi: 10.1007/s00431-008-0740-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18463892" target="_blank">18463892</a><a href="/pmc/articles/PMC2413085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17394201">Martsolf syndrome in Japanese siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ehara H,
|
||
Utsunomiya Y,
|
||
Ieshima A,
|
||
Maegaki Y,
|
||
Nishimura G,
|
||
Takeshita K,
|
||
Ohno K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2007 May 1;143A(9):973-8.
|
||
doi: 10.1002/ajmg.a.31626.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17394201" target="_blank">17394201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15216542">Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Derbent M,
|
||
Agras PI,
|
||
Gedik S,
|
||
Oto S,
|
||
Alehan F,
|
||
Saatçi U</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2004 Jul 30;128A(3):232-4.
|
||
doi: 10.1002/ajmg.a.30109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15216542" target="_blank">15216542</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Martsolf%20syndrome%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21473985">Loss-of-function mutations in RAB18 cause Warburg micro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bem D,
|
||
Yoshimura S,
|
||
Nunes-Bastos R,
|
||
Bond FC,
|
||
Kurian MA,
|
||
Rahman F,
|
||
Handley MT,
|
||
Hadzhiev Y,
|
||
Masood I,
|
||
Straatman-Iwanowska AA,
|
||
Cullinane AR,
|
||
McNeill A,
|
||
Pasha SS,
|
||
Kirby GA,
|
||
Foster K,
|
||
Ahmed Z,
|
||
Morton JE,
|
||
Williams D,
|
||
Graham JM,
|
||
Dobyns WB,
|
||
Burglen L,
|
||
Ainsworth JR,
|
||
Gissen P,
|
||
Müller F,
|
||
Maher ER,
|
||
Barr FA,
|
||
Aligianis IA</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2011 Apr 8;88(4):499-507.
|
||
doi: 10.1016/j.ajhg.2011.03.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21473985" target="_blank">21473985</a><a href="/pmc/articles/PMC3071920" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Martsolf%20syndrome%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32162791">Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hozhabri H,
|
||
Talebi M,
|
||
Mehrjardi MYV,
|
||
De Luca A,
|
||
Dehghani M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 May;182(5):957-961.
|
||
Epub 2020 Mar 12
|
||
doi: 10.1002/ajmg.a.61543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32162791" target="_blank">32162791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27256633">Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trkova M,
|
||
Hynek M,
|
||
Dudakova L,
|
||
Becvarova V,
|
||
Hlozanek M,
|
||
Raskova D,
|
||
Vincent AL,
|
||
Liskova P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Jul;170(7):1843-8.
|
||
Epub 2016 Jun 3
|
||
doi: 10.1002/ajmg.a.37685.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27256633" target="_blank">27256633</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21473985">Loss-of-function mutations in RAB18 cause Warburg micro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bem D,
|
||
Yoshimura S,
|
||
Nunes-Bastos R,
|
||
Bond FC,
|
||
Kurian MA,
|
||
Rahman F,
|
||
Handley MT,
|
||
Hadzhiev Y,
|
||
Masood I,
|
||
Straatman-Iwanowska AA,
|
||
Cullinane AR,
|
||
McNeill A,
|
||
Pasha SS,
|
||
Kirby GA,
|
||
Foster K,
|
||
Ahmed Z,
|
||
Morton JE,
|
||
Williams D,
|
||
Graham JM,
|
||
Dobyns WB,
|
||
Burglen L,
|
||
Ainsworth JR,
|
||
Gissen P,
|
||
Müller F,
|
||
Maher ER,
|
||
Barr FA,
|
||
Aligianis IA</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2011 Apr 8;88(4):499-507.
|
||
doi: 10.1016/j.ajhg.2011.03.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21473985" target="_blank">21473985</a><a href="/pmc/articles/PMC3071920" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1776632">Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Temtamy SA,
|
||
Sinbawy AH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1991 Dec 15;41(4):432-3.
|
||
doi: 10.1002/ajmg.1320410409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1776632" target="_blank">1776632</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Martsolf%20syndrome%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">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0796037%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796037%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796037%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0796037%5bDISCUI%5d" target="_blank">See all (20)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS212720" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Martsolf%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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=(%22martsolf%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></ul></div>
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