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<meta name="keywords" content="C0796031, cardiogenital syndrome, cardiomyopathy with primary testicular failure, cardiomyopathy, congestive, with hypergonadotropic hypogonadism, cardiomyopathy, dilated, with hypergonadotropic hypogonadism, cardiomyopathy, dilated, with premature ovarian failure, congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome, congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism, dilated cardiomyopathy with hypergonadotropic hypogonadism, dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, disease or syndrome, familial cardiomyopathy, hypogonadism, and collagenoma, genital anomaly with cardiomyopathy, lmna, malouf syndrome, najjar 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="This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (Concept Id: C0796031)
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<!--
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||
UID=162901
|
||
ConceptID=C0796031
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162901</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:">C0796031</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>CARDIOGENITAL SYNDROME; CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE; CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM; CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM; CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE; Congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome; Congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism; Familial cardiomyopathy, hypogonadism, and collagenoma; GENITAL ANOMALY WITH CARDIOMYOPATHY; Malouf syndrome; NAJJAR SYNDROME</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Malouf syndrome (719451006)</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 jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="LMNA - ID: 4000 - NCBI Gene" href="/gene/4000" class="medgenPMinfo">LMNA</a> (1q22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008915" target="_blank">MONDO:0008915</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/212112" target="_blank">212112</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=2229">ORPHA2229</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_2880"><div><strong>Primary dilated cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2880</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.">C0007193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2880">Feature record</a> | <a href="/medgen?term=%22Primary%20dilated%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202880%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7670"><div><strong>Mitral regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7670</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.">C0026266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7670">Feature record</a> | <a href="/medgen?term=%22Mitral%20regurgitation%22%5BClinical%20Features%5D%20OR%207670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_209232"><div><strong>Cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</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.">C0878544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209232">Feature record</a> | <a href="/medgen?term=%22Cardiomyopathy%22%5BClinical%20Features%5D%20OR%20209232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57535"><div><strong>Microtia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57535</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.">C0152423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the external ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57535">Feature record</a> | <a href="/medgen?term=%22Microtia%22%5BClinical%20Features%5D%20OR%2057535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6111"><div><strong>Lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6111</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.">C0023787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Degenerative changes of the fat tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6111">Feature record</a> | <a href="/medgen?term=%22Lipodystrophy%22%5BClinical%20Features%5D%20OR%206111%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19766"><div><strong>Retrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19766</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.">C0035353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the mandible is mislocalised posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19766">Feature record</a> | <a href="/medgen?term=%22Retrognathia%22%5BClinical%20Features%5D%20OR%2019766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_575400"><div><strong>Finger joint contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>575400</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.">C0343146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Finger%20joint%20contracture%22%5BClinical%20Features%5D%20OR%20575400%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_592396"><div><strong>Recurrent shoulder dislocation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>592396</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.">C0409415</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Shoulder dislocation occurring repeated times.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Recurrent%20shoulder%20dislocation%22%5BClinical%20Features%5D%20OR%20592396%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96529"><div><strong>Short clavicles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96529</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.">C0426799</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced length of the clavicles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96529">Feature record</a> | <a href="/medgen?term=%22Short%20clavicles%22%5BClinical%20Features%5D%20OR%2096529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346461"><div><strong>Down-sloping shoulders</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346461</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.">C1856872</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Low set, steeply sloping shoulders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346461">Feature record</a> | <a href="/medgen?term=%22Down-sloping%20shoulders%22%5BClinical%20Features%5D%20OR%20346461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98086"><div><strong>Narrow nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98086</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.">C0426422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98086">Feature record</a> | <a href="/medgen?term=%22Narrow%20nose%22%5BClinical%20Features%5D%20OR%2098086%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_784514"><div><strong>Short chin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>784514</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.">C3697248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/784514">Feature record</a> | <a href="/medgen?term=%22Short%20chin%22%5BClinical%20Features%5D%20OR%20784514%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_472893"><div><strong>Sclerodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>472893</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.">C0150988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Localized thickening and tightness of the skin of the fingers or toes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/472893">Feature record</a> | <a href="/medgen?term=%22Sclerodactyly%22%5BClinical%20Features%5D%20OR%20472893%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_97905"><div><strong>Poikiloderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97905</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0392777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/97905">Feature record</a> | <a href="/medgen?term=%22Poikiloderma%22%5BClinical%20Features%5D%20OR%2097905%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377525"><div><strong>Poor wound healing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377525</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.">C1851789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced ability to heal cutaneous wounds.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377525">Feature record</a> | <a href="/medgen?term=%22Poor%20wound%20healing%22%5BClinical%20Features%5D%20OR%20377525%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867629"><div><strong>Telangiectasia of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867629</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.">C4022018</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867629">Feature record</a> | <a href="/medgen?term=%22Telangiectasia%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%20867629%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_184926"><div><strong>Hypergonadotropic hypogonadism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>184926</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.">C0948896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/184926">Feature record</a> | <a href="/medgen?term=%22Hypergonadotropic%20hypogonadism%22%5BClinical%20Features%5D%20OR%20184926%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</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.">C0005745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow nose</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_784514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short chin</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral regurgitation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary dilated cardiomyopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_184926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypergonadotropic hypogonadism</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_97905" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poikiloderma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377525" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor wound healing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_472893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sclerodactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia of the skin</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Down-sloping shoulders</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_575400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Finger joint contracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipodystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_592396" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent shoulder dislocation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short clavicles</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microtia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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=C0796031[DISCUI]&test_type=Clinical" ref="ncbi_uid=162901">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=162901" target="_blank" href="/omim/150330">O</a></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=162901" ref="ncbi_uid=162901">V</a></span></span><span class="TLline">Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842342" ref="tree=MeSH" title="MedGen record for Syndrome associated with dilated cardiomyopathy">Syndrome associated with dilated cardiomyopathy</a></span><ul><li><span class="matched_ds">Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=2104&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</span> in Orphanet.</div></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/36704037">The interplay between prolactin and cardiovascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glezer A,
|
||
Santana MR,
|
||
Bronstein MD,
|
||
Donato J Jr,
|
||
Jallad RS</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:1018090.
|
||
Epub 2023 Jan 10
|
||
doi: 10.3389/fendo.2022.1018090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36704037" target="_blank">36704037</a><a href="/pmc/articles/PMC9871591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32844712">Testosterone treatment longer than 1 year shows more effects on functional hypogonadism and related metabolic, vascular, diabetic and obesity parameters (results of the 2-year clinical trial).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groti Antonič K,
|
||
Antonič B,
|
||
Žuran I,
|
||
Pfeifer M</span><br />
|
||
<span class="medgenPMjournal">Aging Male</span>
|
||
2020 Dec;23(5):1442-1454.
|
||
Epub 2020 Aug 26
|
||
doi: 10.1080/13685538.2020.1793132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32844712" target="_blank">32844712</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21477014">Erectile dysfunction is not a mirror of endothelial dysfunction in HIV-infected patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guaraldi G,
|
||
Beggi M,
|
||
Zona S,
|
||
Luzi K,
|
||
Orlando G,
|
||
Carli F,
|
||
Ligabue G,
|
||
Rochira V,
|
||
Rossi R,
|
||
Modena MG,
|
||
Bouloux P</span><br />
|
||
<span class="medgenPMjournal">J Sex Med</span>
|
||
2012 Apr;9(4):1114-21.
|
||
Epub 2011 Apr 7
|
||
doi: 10.1111/j.1743-6109.2011.02243.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21477014" target="_blank">21477014</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17940554">Alström syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall JD,
|
||
Beck S,
|
||
Maffei P,
|
||
Naggert JK</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2007 Dec;15(12):1193-202.
|
||
Epub 2007 Oct 17
|
||
doi: 10.1038/sj.ejhg.5201933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17940554" target="_blank">17940554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15795345">New Alström syndrome phenotypes based on the evaluation of 182 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall JD,
|
||
Bronson RT,
|
||
Collin GB,
|
||
Nordstrom AD,
|
||
Maffei P,
|
||
Paisey RB,
|
||
Carey C,
|
||
Macdermott S,
|
||
Russell-Eggitt I,
|
||
Shea SE,
|
||
Davis J,
|
||
Beck S,
|
||
Shatirishvili G,
|
||
Mihai CM,
|
||
Hoeltzenbein M,
|
||
Pozzan GB,
|
||
Hopkinson I,
|
||
Sicolo N,
|
||
Naggert JK,
|
||
Nishina PM</span><br />
|
||
<span class="medgenPMjournal">Arch Intern Med</span>
|
||
2005 Mar 28;165(6):675-83.
|
||
doi: 10.1001/archinte.165.6.675.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15795345" target="_blank">15795345</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dilated%20cardiomyopathy-hypergonadotropic%20hypogonadism%20syndrome%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36704037">The interplay between prolactin and cardiovascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glezer A,
|
||
Santana MR,
|
||
Bronstein MD,
|
||
Donato J Jr,
|
||
Jallad RS</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:1018090.
|
||
Epub 2023 Jan 10
|
||
doi: 10.3389/fendo.2022.1018090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36704037" target="_blank">36704037</a><a href="/pmc/articles/PMC9871591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30578508">Ciliopathy: Alström Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsang SH,
|
||
Aycinena ARP,
|
||
Sharma T</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2018;1085:179-180.
|
||
doi: 10.1007/978-3-319-95046-4_35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30578508" target="_blank">30578508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21660410">A man with Klinefelter's syndrome and new abdominal distension: a discussion of evaluation and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Postow M,
|
||
Shah MA,
|
||
Lowery M,
|
||
Shamseddine A,
|
||
El-Kutoubi A,
|
||
Al Olayan A,
|
||
Naghy M,
|
||
Ang C,
|
||
Tamraz S,
|
||
Jazieh AR,
|
||
O'Reilly EM,
|
||
Kelsen DP,
|
||
Abou-Alfa GK</span><br />
|
||
<span class="medgenPMjournal">J Gastrointest Cancer</span>
|
||
2012 Jun;43(2):314-8.
|
||
doi: 10.1007/s12029-011-9294-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21660410" target="_blank">21660410</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17940554">Alström syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall JD,
|
||
Beck S,
|
||
Maffei P,
|
||
Naggert JK</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2007 Dec;15(12):1193-202.
|
||
Epub 2007 Oct 17
|
||
doi: 10.1038/sj.ejhg.5201933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17940554" target="_blank">17940554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1488988">Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of Malouf syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Narahara K,
|
||
Kamada M,
|
||
Takahashi Y,
|
||
Tsuji K,
|
||
Yokoyama Y,
|
||
Ninomiya S,
|
||
Seino Y</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1992 Oct 1;44(3):369-73.
|
||
doi: 10.1002/ajmg.1320440320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1488988" target="_blank">1488988</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dilated%20cardiomyopathy-hypergonadotropic%20hypogonadism%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 (25)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32844712">Testosterone treatment longer than 1 year shows more effects on functional hypogonadism and related metabolic, vascular, diabetic and obesity parameters (results of the 2-year clinical trial).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groti Antonič K,
|
||
Antonič B,
|
||
Žuran I,
|
||
Pfeifer M</span><br />
|
||
<span class="medgenPMjournal">Aging Male</span>
|
||
2020 Dec;23(5):1442-1454.
|
||
Epub 2020 Aug 26
|
||
doi: 10.1080/13685538.2020.1793132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32844712" target="_blank">32844712</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29708829">The impact of testosterone replacement therapy on glycemic control, vascular function, and components of the metabolic syndrome in obese hypogonadal men with type 2 diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groti K,
|
||
Žuran I,
|
||
Antonič B,
|
||
Foršnarič L,
|
||
Pfeifer M</span><br />
|
||
<span class="medgenPMjournal">Aging Male</span>
|
||
2018 Sep;21(3):158-169.
|
||
Epub 2018 Apr 30
|
||
doi: 10.1080/13685538.2018.1468429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29708829" target="_blank">29708829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25280063">Effect of androgen replacement therapy on atherosclerotic risk markers in young-to-middle-aged men with idiopathic hypogonadotropic hypogonadism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Doğan BA,
|
||
Karakılıç E,
|
||
Tuna MM,
|
||
Arduç A,
|
||
Berker D,
|
||
Güler S</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2015 Mar;82(3):422-8.
|
||
Epub 2014 Nov 5
|
||
doi: 10.1111/cen.12617.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25280063" target="_blank">25280063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24499211">Multiple phenotypes in phosphoglucomutase 1 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tegtmeyer LC,
|
||
Rust S,
|
||
van Scherpenzeel M,
|
||
Ng BG,
|
||
Losfeld ME,
|
||
Timal S,
|
||
Raymond K,
|
||
He P,
|
||
Ichikawa M,
|
||
Veltman J,
|
||
Huijben K,
|
||
Shin YS,
|
||
Sharma V,
|
||
Adamowicz M,
|
||
Lammens M,
|
||
Reunert J,
|
||
Witten A,
|
||
Schrapers E,
|
||
Matthijs G,
|
||
Jaeken J,
|
||
Rymen D,
|
||
Stojkovic T,
|
||
Laforêt P,
|
||
Petit F,
|
||
Aumaître O,
|
||
Czarnowska E,
|
||
Piraud M,
|
||
Podskarbi T,
|
||
Stanley CA,
|
||
Matalon R,
|
||
Burda P,
|
||
Seyyedi S,
|
||
Debus V,
|
||
Socha P,
|
||
Sykut-Cegielska J,
|
||
van Spronsen F,
|
||
de Meirleir L,
|
||
Vajro P,
|
||
DeClue T,
|
||
Ficicioglu C,
|
||
Wada Y,
|
||
Wevers RA,
|
||
Vanderschaeghe D,
|
||
Callewaert N,
|
||
Fingerhut R,
|
||
van Schaftingen E,
|
||
Freeze HH,
|
||
Morava E,
|
||
Lefeber DJ,
|
||
Marquardt T</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2014 Feb 6;370(6):533-42.
|
||
doi: 10.1056/NEJMoa1206605.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24499211" target="_blank">24499211</a><a href="/pmc/articles/PMC4373661" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17067587">Obesity and insulin resistance but not hyperandrogenism mediates vascular dysfunction in women with polycystic ovary syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dokras A,
|
||
Jagasia DH,
|
||
Maifeld M,
|
||
Sinkey CA,
|
||
VanVoorhis BJ,
|
||
Haynes WG</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2006 Dec;86(6):1702-9.
|
||
Epub 2006 Oct 24
|
||
doi: 10.1016/j.fertnstert.2006.05.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17067587" target="_blank">17067587</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dilated%20cardiomyopathy-hypergonadotropic%20hypogonadism%20syndrome%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24008991">Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gersak K,
|
||
Strgulc M,
|
||
Gorjup V,
|
||
Dolenc-Strazar Z,
|
||
Jurcic V,
|
||
Penny DJ,
|
||
Fan Y</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2013 Nov;8(5):1311-4.
|
||
Epub 2013 Sep 5
|
||
doi: 10.3892/mmr.2013.1669.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24008991" target="_blank">24008991</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21477014">Erectile dysfunction is not a mirror of endothelial dysfunction in HIV-infected patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guaraldi G,
|
||
Beggi M,
|
||
Zona S,
|
||
Luzi K,
|
||
Orlando G,
|
||
Carli F,
|
||
Ligabue G,
|
||
Rochira V,
|
||
Rossi R,
|
||
Modena MG,
|
||
Bouloux P</span><br />
|
||
<span class="medgenPMjournal">J Sex Med</span>
|
||
2012 Apr;9(4):1114-21.
|
||
Epub 2011 Apr 7
|
||
doi: 10.1111/j.1743-6109.2011.02243.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21477014" target="_blank">21477014</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17940554">Alström syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall JD,
|
||
Beck S,
|
||
Maffei P,
|
||
Naggert JK</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2007 Dec;15(12):1193-202.
|
||
Epub 2007 Oct 17
|
||
doi: 10.1038/sj.ejhg.5201933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17940554" target="_blank">17940554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15809999">Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoffman JD,
|
||
Jacobson Z,
|
||
Young TL,
|
||
Marshall JD,
|
||
Kaplan P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 May 15;135(1):96-8.
|
||
doi: 10.1002/ajmg.a.30688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15809999" target="_blank">15809999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11005194">Acute cerebellar hemorrhage in a patient with Klinefelter syndrome: XXY karyotype obtained postmortem from cells from pericardial fluid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kominato Y,
|
||
Fujikura T,
|
||
Matsui K,
|
||
Hata N,
|
||
Takizawa H</span><br />
|
||
<span class="medgenPMjournal">J Forensic Sci</span>
|
||
2000 Sep;45(5):1148-50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11005194" target="_blank">11005194</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dilated%20cardiomyopathy-hypergonadotropic%20hypogonadism%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33719213">Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gowans LJJ,
|
||
Al Dhaheri N,
|
||
Li M,
|
||
Busch T,
|
||
Obiri-Yeboah S,
|
||
Oti AA,
|
||
Sabbah DK,
|
||
Arthur FKN,
|
||
Awotoye WO,
|
||
Alade AA,
|
||
Twumasi P,
|
||
Agbenorku P,
|
||
Plange-Rhule G,
|
||
Naicker T,
|
||
Donkor P,
|
||
Murray JC,
|
||
Sobreira NLM,
|
||
Butali A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2021 Apr;9(4):e1655.
|
||
Epub 2021 Mar 14
|
||
doi: 10.1002/mgg3.1655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33719213" target="_blank">33719213</a><a href="/pmc/articles/PMC8123728" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32844712">Testosterone treatment longer than 1 year shows more effects on functional hypogonadism and related metabolic, vascular, diabetic and obesity parameters (results of the 2-year clinical trial).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groti Antonič K,
|
||
Antonič B,
|
||
Žuran I,
|
||
Pfeifer M</span><br />
|
||
<span class="medgenPMjournal">Aging Male</span>
|
||
2020 Dec;23(5):1442-1454.
|
||
Epub 2020 Aug 26
|
||
doi: 10.1080/13685538.2020.1793132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32844712" target="_blank">32844712</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21477014">Erectile dysfunction is not a mirror of endothelial dysfunction in HIV-infected patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guaraldi G,
|
||
Beggi M,
|
||
Zona S,
|
||
Luzi K,
|
||
Orlando G,
|
||
Carli F,
|
||
Ligabue G,
|
||
Rochira V,
|
||
Rossi R,
|
||
Modena MG,
|
||
Bouloux P</span><br />
|
||
<span class="medgenPMjournal">J Sex Med</span>
|
||
2012 Apr;9(4):1114-21.
|
||
Epub 2011 Apr 7
|
||
doi: 10.1111/j.1743-6109.2011.02243.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21477014" target="_blank">21477014</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15795345">New Alström syndrome phenotypes based on the evaluation of 182 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall JD,
|
||
Bronson RT,
|
||
Collin GB,
|
||
Nordstrom AD,
|
||
Maffei P,
|
||
Paisey RB,
|
||
Carey C,
|
||
Macdermott S,
|
||
Russell-Eggitt I,
|
||
Shea SE,
|
||
Davis J,
|
||
Beck S,
|
||
Shatirishvili G,
|
||
Mihai CM,
|
||
Hoeltzenbein M,
|
||
Pozzan GB,
|
||
Hopkinson I,
|
||
Sicolo N,
|
||
Naggert JK,
|
||
Nishina PM</span><br />
|
||
<span class="medgenPMjournal">Arch Intern Med</span>
|
||
2005 Mar 28;165(6):675-83.
|
||
doi: 10.1001/archinte.165.6.675.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15795345" target="_blank">15795345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12532560">The Alström syndrome: is it a rare or unknown disease?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maffei P,
|
||
Munno V,
|
||
Marshall JD,
|
||
Scandellari C,
|
||
Sicolo N</span><br />
|
||
<span class="medgenPMjournal">Ann Ital Med Int</span>
|
||
2002 Oct-Dec;17(4):221-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12532560" target="_blank">12532560</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dilated%20cardiomyopathy-hypergonadotropic%20hypogonadism%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 (7)</a></div></div>
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||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0796031%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (62)</a></li>
|
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<li><a href="/gtr/tests?term=C0796031%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796031%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796031%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (69)</a></li>
|
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<li><a href="/gtr/tests?term=C0796031%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0796031%5bDISCUI%5d" target="_blank">See all (78)</a></total></li>
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