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<!--
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UID=423648
|
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ConceptID=C2937358
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cerebral hemorrhage</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>423648</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.">C2937358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Intracerebral hemorrhage</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Intracerebral hemorrhage (274100004); ICH - intracerebral hemorrhage (274100004); Cerebral hemorrhage (274100004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001342">HP:0001342</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013792" target="_blank">MONDO:0013792</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Hemorrhage into the parenchyma of the brain. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Cerebral hemorrhage</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/927608" ref="tree=MeSH" title="MedGen record for Abnormal vascular morphology">Abnormal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867613" ref="tree=MeSH" title="MedGen record for Abnormal cerebral vascular morphology">Abnormal cerebral vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/101799" ref="tree=MeSH" title="MedGen record for Intracranial hemorrhage">Intracranial hemorrhage</a></span><ul><li><span class="matched_ds">Cerebral hemorrhage</span><ul><li><span class="TLline"><a href="/medgen/332401" ref="tree=MeSH" title="MedGen record for Antenatal intracerebral hemorrhage">Antenatal intracerebral hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/96872" ref="tree=MeSH" title="MedGen record for Basal ganglia hemorrhage">Basal ganglia hemorrhage</a></span><ul><li><span class="TLline"><a href="/medgen/155623" ref="tree=MeSH" title="MedGen record for Hemorrhage in putamen">Hemorrhage in putamen</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/859286" ref="tree=MeSH" title="MedGen record for Cerebral Hemorrhage Related to Birth">Cerebral Hemorrhage Related to Birth</a></span></li><li><span class="TLline"><a href="/medgen/1371930" ref="tree=MeSH" title="MedGen record for Cerebral Intraventricular Hemorrhage">Cerebral Intraventricular Hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/858296" ref="tree=MeSH" title="MedGen record for Intraparenchymal Hemorrhage of the Newborn">Intraparenchymal Hemorrhage of the Newborn</a></span></li><li><span class="TLline"><a href="/medgen/116096" ref="tree=MeSH" title="MedGen record for Intraventricular hemorrhage">Intraventricular hemorrhage</a></span><ul><li><span class="TLline"><a href="/medgen/542590" ref="tree=MeSH" title="MedGen record for Perinatal intraventricular hemorrhage">Perinatal intraventricular hemorrhage</a></span><ul><li><span class="TLline"><a href="/medgen/634835" ref="tree=MeSH" title="MedGen record for Germinal Matrix Hemorrhage of the Newborn">Germinal Matrix Hemorrhage of the Newborn</a></span></li><li><span class="TLline"><a href="/medgen/634953" ref="tree=MeSH" title="MedGen record for Intraventricular hemorrhage of prematurity">Intraventricular hemorrhage of prematurity</a></span></li><li><span class="TLline"><a href="/medgen/634837" ref="tree=MeSH" title="MedGen record for Intraventricular Hemorrhage of the Newborn with Ventricular Dilatation">Intraventricular Hemorrhage of the Newborn with Ventricular Dilatation</a></span></li><li><span class="TLline"><a href="/medgen/634836" ref="tree=MeSH" title="MedGen record for Intraventricular Hemorrhage of the Newborn without Ventricular Dilatation">Intraventricular Hemorrhage of the Newborn without Ventricular Dilatation</a></span></li><li><span class="TLline"><a href="/medgen/858288" ref="tree=MeSH" title="MedGen record for Intraventricular Hemorrhage Related to Birth">Intraventricular Hemorrhage Related to Birth</a></span></li><li><span class="TLline"><a href="/medgen/858287" ref="tree=MeSH" title="MedGen record for Intraventricular Hemorrhage with Parenchymal Hemorrhage of the Newborn">Intraventricular Hemorrhage with Parenchymal Hemorrhage of the Newborn</a></span></li><li><span class="TLline"><a href="/medgen/634956" ref="tree=MeSH" title="MedGen record for Perinatal subependymal hemorrhage with intraventricular and intracerebral extension">Perinatal subependymal hemorrhage with intraventricular and intracerebral extension</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/904936" ref="tree=MeSH" title="MedGen record for Preterm intraventricular hemorrhage">Preterm intraventricular hemorrhage</a></span><ul><li><span class="TLline"><a href="/medgen/634954" ref="tree=MeSH" title="MedGen record for Grade I preterm intraventricular hemorrhage">Grade I preterm intraventricular hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/904292" ref="tree=MeSH" title="MedGen record for Grade II preterm intraventricular hemorrhage">Grade II preterm intraventricular hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/909642" ref="tree=MeSH" title="MedGen record for Grade III preterm intraventricular hemorrhage">Grade III preterm intraventricular hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/905239" ref="tree=MeSH" title="MedGen record for Grade IV preterm intraventricular hemorrhage">Grade IV preterm intraventricular hemorrhage</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/856233" ref="tree=MeSH" title="MedGen record for Periventricular Hemorrhage of the Newborn">Periventricular Hemorrhage of the Newborn</a></span></li><li><span class="TLline"><a href="/medgen/870807" ref="tree=MeSH" title="MedGen record for Recurrent cerebral hemorrhage">Recurrent cerebral hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/473434" ref="tree=MeSH" title="MedGen record for Subependymal Hemorrhage">Subependymal Hemorrhage</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_18419"><div><strong>Pheochromocytoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18419</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.">C0031511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck paragangliomas [HNPGLs]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, extra-adrenal sympathetic paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCCs result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas. Additional tumors reported in individuals with hereditary PGL/PCC syndromes include gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and clear cell renal cell carcinoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18419">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_45996"><div><strong>Acquired polycythemia vera</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45996</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.">C0032463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polycythemia vera (PV), the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45996">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_76449"><div><strong>Sneddon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>76449</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.">C0282492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/76449">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_279656"><div><strong>Hereditary cerebral amyloid angiopathy, Icelandic type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>279656</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.">C1527338</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly (Vinters, 1987, Greenberg, 1998). Palsdottir et al. (1988) referred to the disorder in Icelandic patients as hereditary cystatin C amyloid angiopathy (HCCAA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/279656">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332974"><div><strong>Chuvash polycythemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332974</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.">C1837915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial erythrocytosis-2 (ECYT2) is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors may be hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332974">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324960"><div><strong>Telangiectasia, hereditary hemorrhagic, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324960</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.">C1838163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324960">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376309"><div><strong>Heterotopia, periventricular, X-linked dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376309</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.">C1848213</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilatation and rupture of the thoracic aorta, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376309">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376381"><div><strong>Vitamin K-dependent clotting factors, combined deficiency of, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376381</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.">C1848534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C (612283) and protein S (176880). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX. Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting Factors Combined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2; 607473) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1; 608547) on chromosome 16p11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376381">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341824"><div><strong>Hereditary hemorrhagic telangiectasia type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341824</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.">C1857688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341824">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355121"><div><strong>Cerebral cavernous malformation 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355121</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.">C1864040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial cerebral cavernous malformations (FCCM) is a disorder characterized by multiple vascular lesions in the brain and spinal cord that consist of clustered, endothelial-lined caverns ranging in diameter from a few millimeters to several centimeters. Cerebral and/or spinal cavernous malformations may increase in number over time, and individual lesions may increase or decrease in size. The number of cerebral cavernous malformations (CCMs) identified in an individual ranges from one or two to hundreds of lesions (typical number 6-20 CCMs) depending on the individual's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades of life either incidentally or associated with seizures, focal neurologic deficits, headaches, and/or cerebral hemorrhage. Cutaneous vascular lesions are found in 9% and retinal vascular lesions in almost 5% of affected individuals. Up to 50% of individuals with FCCM remain symptom free throughout their lives.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355121">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400438"><div><strong>Cerebral cavernous malformation 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400438</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial cerebral cavernous malformations (FCCM) is a disorder characterized by multiple vascular lesions in the brain and spinal cord that consist of clustered, endothelial-lined caverns ranging in diameter from a few millimeters to several centimeters. Cerebral and/or spinal cavernous malformations may increase in number over time, and individual lesions may increase or decrease in size. The number of cerebral cavernous malformations (CCMs) identified in an individual ranges from one or two to hundreds of lesions (typical number 6-20 CCMs) depending on the individual's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades of life either incidentally or associated with seizures, focal neurologic deficits, headaches, and/or cerebral hemorrhage. Cutaneous vascular lesions are found in 9% and retinal vascular lesions in almost 5% of affected individuals. Up to 50% of individuals with FCCM remain symptom free throughout their lives.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400438">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357280"><div><strong>Pseudoxanthoma elasticum, forme fruste</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357280</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.">C1867450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357280">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_401431"><div><strong>Pheochromocytoma-islet cell tumor syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401431</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.">C1868392</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401431">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463207"><div><strong>Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463207</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.">C3151857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463207">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482722"><div><strong>Thrombophilia due to protein S deficiency, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482722</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.">C3281092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage (Pung-amritt et al., 1999; Fischer et al., 2010), whereas others have recurrent thromboses later in childhood (Comp et al., 1984). See also autosomal dominant thrombophilia due to protein S deficiency (THPH5; 612336), a less severe disorder caused by heterozygous mutation in the PROS1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482722">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_909039"><div><strong>Seizures-scoliosis-macrocephaly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>909039</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.">C4225248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, behavioral problems, poor or absent speech, seizures, dysmorphic facial features with macro- or microcephaly, and skeletal abnormalities, including scoliosis and delayed bone age. Other features may include hypotonia, gastrointestinal problems, and exostoses (summary by Gentile et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/909039">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1373355"><div><strong>Pseudo-TORCH syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1373355</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.">C4479376</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pseudo-TORCH syndrome-2 (PTORCH2) is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by Meuwissen et al., 2016). For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (251290).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1373355">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641215"><div><strong>Primary familial polycythemia due to EPO receptor mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641215</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.">C4551637</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary familial and congenital erythrocytosis (PFCE), originally described as primary familial and congenital polycythemia, is characterized by isolated erythrocytosis in an individual with a normal to slightly enlarged spleen and absence of disorders causing secondary erythrocytosis. Clinical manifestations relate to the erythrocytosis and include rubor, and may or may not include hyperviscosity syndrome (headache, dizziness, altered mentation, visual disturbances, tinnitus, paresthesia, fatigue, lassitude, and weakness) and arterial and/or venous thromboembolic events. Although the majority of individuals with PFCE have absence of or only mild manifestations of hyperviscosity syndrome such as headache or dizziness, some affected individuals have severe and even fatal complications including arterial hypertension, coronary artery disease, myocardial infarction, intracerebral hemorrhage, and deep vein thrombosis (DVT). Phlebotomy-induced iron deficiency results in lassitude, impaired intellect, and impaired athletic performance, especially in children. Iron deficiency may also increase the risk of thromboses. Leukocyte count and differential are normal and platelet count tends to be low normal or slightly low due to hemodilution from increased red blood cells and increased whole blood volume.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641215">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1643786"><div><strong>Telangiectasia, hereditary hemorrhagic, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643786</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643786">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647320"><div><strong>Brain small vessel disease 1 with or without ocular anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647320</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.">C4551998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647320">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1708513"><div><strong>Pseudo-TORCH syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1708513</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.">C5394391</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pseudo-TORCH syndrome-3 (PTORCH3) is an autosomal recessive disorder of immune dysregulation and neuroinflammation apparent from early infancy. Affected individuals have developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Laboratory studies show abnormal elevation of interferon (IFN)-stimulated gene (ISG) transcripts consistent with a type I interferonopathy. The phenotype resembles the sequelae of intrauterine infection, but there is usually no evidence of an infectious agent. The disorder results from defects in negative regulation of the interferon immunologic pathway. Death in early childhood is common (summary by Duncan et al., 2019 and Gruber et al., 2020). For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (251290).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1708513">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1811268"><div><strong>Autoinflammatory disease, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1811268</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.">C5676885</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature (de Jesus et al., 2020 and Lee et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1811268">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1801983"><div><strong>Cardiomyopathy, dilated, 2G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1801983</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.">C5676995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dilated cardiomyopathy-2G (CMD2G) is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. Cardiac tissue exhibits markedly shortened thin filaments, disorganized myofibrils, and reduced contractile force generation, resulting in the severe ventricular dysfunction observed. There is no evidence of skeletal muscle hypertrophy (Ahrens-Nicklas et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1801983">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840969"><div><strong>Congenital myopathy 2c, severe infantile, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840969</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.">C5830333</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-2C (CMYO2C) is an autosomal dominant disorder of the skeletal muscle characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life. Patients present at birth with hypotonia, lack of antigravity movements, poor head control, and difficulties feeding or breathing, often requiring tube-feeding and mechanical ventilation. Decreased fetal movements may be observed in some cases. Of the patients with congenital myopathy caused by mutation in the ACTA1 gene, about 90% carry heterozygous mutations that are usually de novo and cause the severe infantile phenotype. Some patients with heterozygous mutations have a more typical and milder disease course with delayed motor development and proximal muscle weakness, but are able to achieve independent ambulation (CMYO2A; 161800). The severity of the disease most likely depends on the detrimental effect of the mutation, although there are probably additional modifying factors (Ryan et al., 2001; Laing et al., 2009; Sanoudou and Beggs, 2001; Agrawal et al., 2004; Nowak et al., 2013; Sewry et al., 2019; Laitila and Wallgren-Pettersson, 2021). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840969">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841010"><div><strong>Mitochondrial trifunctional protein deficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841010</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.">C5830374</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. TFP has three enzymatic activities – long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. Individuals with TFP deficiency can present with a severe-to-mild phenotype, while individuals with LCHAD deficiency typically present with a severe-to-intermediate phenotype. Neonates with the severe phenotype present within a few days of birth with hypoglycemia, hepatomegaly, encephalopathy, and often cardiomyopathy. The intermediate phenotype is characterized by hypoketotic hypoglycemia precipitated by infection or fasting in infancy. The mild (late-onset) phenotype is characterized by myopathy and/or neuropathy. Long-term complications include peripheral neuropathy and retinopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841010">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841145"><div><strong>Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841145</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.">C5830509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Some affected individuals have symptoms incompatible with life and die in utero. Those that survive show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. Other features may include facial dysmorphism, retinal vascular abnormalities, and poor overall growth. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain (Lecca et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854940"><div><strong>Intellectual developmental disorder, x-linked, syndromic 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854940</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.">C5935567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked syndromic intellectual developmental disorder-37 (MRXS37) is a developmental disorder showing phenotypic variability and variable severity. Male mutation carriers tend to be more severely affected than female mutation carriers, some of whom may even be asymptomatic. In general, the disorder is characterized by global developmental delay with delayed walking, speech delay, impaired intellectual development that ranges from borderline low to moderate, and behavioral abnormalities, such as autism and sleeping difficulties. Many patients are able to attend mainstream schools with assistance and work under supervision. Additional more variable features include sensorineural hearing loss, ocular anomalies, feeding difficulties, dysmorphic facial features, inguinal and umbilical hernia, genitourinary defects, congenital heart defects, musculoskeletal anomalies, and endocrine dysfunction, such as hypogonadism or hyperparathyroidism (Shepherdson et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854940">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1856296"><div><strong>Thrombocytopenia 13, syndromic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1856296</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.">C5935599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndromic thrombocytopenia-13 (THC13) is an autosomal recessive disorder characterized mainly by congenital thrombocytopenia resulting in increased bleeding. Platelets tend to be enlarged (macrothrombocytopenia) and/or gray and show functional defects. Some patients have infection-induced leukopenia or anemia and pancytopenia. Additional more variable features have also been reported, including mitral valve malformations, pyloric stenosis, and impaired intellectual development (Seo et al., 2019; Febres-Aldana et al., 2020; Marin-Quilez et al., 2023). For a discussion of genetic heterogeneity of thrombocytopenia, see THC1 (313900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1856296">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_45996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acquired polycythemia vera</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1811268" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory disease, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain small vessel disease 1 with or without ocular anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1801983" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy, dilated, 2G</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cavernous malformation 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (28)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cavernous malformation 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chuvash polycythemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 2c, severe infantile, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_279656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary cerebral amyloid angiopathy, Icelandic type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary hemorrhagic telangiectasia type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotopia, periventricular, X-linked dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, x-linked, syndromic 37</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial trifunctional protein deficiency 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463207" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pheochromocytoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pheochromocytoma-islet cell tumor syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary familial polycythemia due to EPO receptor mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1373355" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudo-TORCH syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1708513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudo-TORCH syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudoxanthoma elasticum, forme fruste</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_909039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizures-scoliosis-macrocephaly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_76449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sneddon syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia, hereditary hemorrhagic, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia, hereditary hemorrhagic, type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1856296" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 13, syndromic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombophilia due to protein S deficiency, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin K-dependent clotting factors, combined deficiency of, type 1</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35659948">Preeclampsia diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Overton E,
|
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Tobes D,
|
||
Lee A</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Anaesthesiol</span>
|
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2022 May;36(1):107-121.
|
||
Epub 2022 Feb 10
|
||
doi: 10.1016/j.bpa.2022.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35659948" target="_blank">35659948</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35579034">2022 Guideline for the Management of Patients With Spontaneous Intracerebral Hemorrhage: A Guideline From the American Heart Association/American Stroke Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greenberg SM,
|
||
Ziai WC,
|
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Cordonnier C,
|
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Dowlatshahi D,
|
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Francis B,
|
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Goldstein JN,
|
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Hemphill JC 3rd,
|
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Johnson R,
|
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Keigher KM,
|
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Mack WJ,
|
||
Mocco J,
|
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Newton EJ,
|
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Ruff IM,
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Sansing LH,
|
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Schulman S,
|
||
Selim MH,
|
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Sheth KN,
|
||
Sprigg N,
|
||
Sunnerhagen KS;
|
||
American Heart Association/American Stroke Association</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2022 Jul;53(7):e282-e361.
|
||
Epub 2022 May 17
|
||
doi: 10.1161/STR.0000000000000407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35579034" target="_blank">35579034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35420918">Cerebral Hemorrhage: Pathophysiology, Treatment, and Future Directions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magid-Bernstein J,
|
||
Girard R,
|
||
Polster S,
|
||
Srinath A,
|
||
Romanos S,
|
||
Awad IA,
|
||
Sansing LH</span><br />
|
||
<span class="medgenPMjournal">Circ Res</span>
|
||
2022 Apr 15;130(8):1204-1229.
|
||
Epub 2022 Apr 14
|
||
doi: 10.1161/CIRCRESAHA.121.319949.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35420918" target="_blank">35420918</a><a href="/pmc/articles/PMC10032582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cerebral%20hemorrhage%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 (266)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38695183">2024 AHA/ASA Performance and Quality Measures for Spontaneous Intracerebral Hemorrhage: A Report From the American Heart Association/American Stroke Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruff IM,
|
||
de Havenon A,
|
||
Bergman DL,
|
||
Dugue R,
|
||
Frontera JA,
|
||
Goldstein JN,
|
||
Hemphill JC,
|
||
Marulanda-Londono E,
|
||
Prabhakaran S,
|
||
Richards CT,
|
||
Sunmonu NA,
|
||
Vilar P,
|
||
Wolfe SQ</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2024 Jul;55(7):e199-e230.
|
||
Epub 2024 May 2
|
||
doi: 10.1161/STR.0000000000000464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38695183" target="_blank">38695183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36300975">Spontaneous Intracerebral Hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheth KN</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2022 Oct 27;387(17):1589-1596.
|
||
doi: 10.1056/NEJMra2201449.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36300975" target="_blank">36300975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30906532">Recent advances in spontaneous intracerebral hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garg R,
|
||
Biller J</span><br />
|
||
<span class="medgenPMjournal">F1000Res</span>
|
||
2019;8
|
||
Epub 2019 Mar 18
|
||
doi: 10.12688/f1000research.16357.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30906532" target="_blank">30906532</a><a href="/pmc/articles/PMC6426087" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18690514">Warfarin-associated intracerebral hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavallini A,
|
||
Fanucchi S,
|
||
Persico A</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2008 Sep;29 Suppl 2:S266-8.
|
||
doi: 10.1007/s10072-008-0959-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18690514" target="_blank">18690514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11346811">Spontaneous intracerebral hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qureshi AI,
|
||
Tuhrim S,
|
||
Broderick JP,
|
||
Batjer HH,
|
||
Hondo H,
|
||
Hanley DF</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2001 May 10;344(19):1450-60.
|
||
doi: 10.1056/NEJM200105103441907.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11346811" target="_blank">11346811</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20hemorrhage%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 (14064)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38937036">Advances and Future Trends in the Diagnosis and Management of Intracerebral Hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeager CE,
|
||
Garg RK</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2024 Aug;42(3):689-703.
|
||
Epub 2024 Apr 27
|
||
doi: 10.1016/j.ncl.2024.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38937036" target="_blank">38937036</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30516598">Intracerebral Hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziai WC,
|
||
Carhuapoma JR</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2018 Dec;24(6):1603-1622.
|
||
doi: 10.1212/CON.0000000000000672.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30516598" target="_blank">30516598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24425128">Neuroimaging in intracerebral hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Macellari F,
|
||
Paciaroni M,
|
||
Agnelli G,
|
||
Caso V</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2014 Mar;45(3):903-8.
|
||
Epub 2014 Jan 14
|
||
doi: 10.1161/STROKEAHA.113.003701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24425128" target="_blank">24425128</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11346811">Spontaneous intracerebral hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qureshi AI,
|
||
Tuhrim S,
|
||
Broderick JP,
|
||
Batjer HH,
|
||
Hondo H,
|
||
Hanley DF</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2001 May 10;344(19):1450-60.
|
||
doi: 10.1056/NEJM200105103441907.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11346811" target="_blank">11346811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13348821">Cerebrovascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MILLIKAN C,
|
||
KETY SS,
|
||
FISHER CM,
|
||
PAGE IH,
|
||
SAHS A,
|
||
ROSE AS</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1956 Aug;6(8):580-93.
|
||
doi: 10.1212/wnl.6.8.580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13348821" target="_blank">13348821</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20hemorrhage%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 (10580)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38749038">Reversing Oral Anticoagulation in Intracerebral Hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith WS,
|
||
Hemphill JC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 May 16;390(19):1815-1816.
|
||
doi: 10.1056/NEJMe2403726.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38749038" target="_blank">38749038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30580575">Statin Safety and Associated Adverse Events: A Scientific Statement From the American Heart Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newman CB,
|
||
Preiss D,
|
||
Tobert JA,
|
||
Jacobson TA,
|
||
Page RL 2nd,
|
||
Goldstein LB,
|
||
Chin C,
|
||
Tannock LR,
|
||
Miller M,
|
||
Raghuveer G,
|
||
Duell PB,
|
||
Brinton EA,
|
||
Pollak A,
|
||
Braun LT,
|
||
Welty FK;
|
||
American Heart Association Clinical Lipidology, Lipoprotein, Metabolism and Thrombosis Committee, a Joint Committee of the Council on Atherosclerosis, Thrombosis and Vascular Biology and Council on Lifestyle and Cardiometabolic Health; Council on Cardiovascular Disease in the Young; Council on Clinical Cardiology; and Stroke Council</span><br />
|
||
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
|
||
2019 Feb;39(2):e38-e81.
|
||
doi: 10.1161/ATV.0000000000000073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30580575" target="_blank">30580575</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28600010">Hemicraniectomy for Ischemic and Hemorrhagic Stroke: Facts and Controversies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta A,
|
||
Sattur MG,
|
||
Aoun RJN,
|
||
Krishna C,
|
||
Bolton PB,
|
||
Chong BW,
|
||
Demaerschalk BM,
|
||
Lyons MK,
|
||
McClendon J Jr,
|
||
Patel N,
|
||
Sen A,
|
||
Swanson K,
|
||
Zimmerman RS,
|
||
Bendok BR</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Clin N Am</span>
|
||
2017 Jul;28(3):349-360.
|
||
doi: 10.1016/j.nec.2017.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28600010" target="_blank">28600010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21784348">Amyloid-related imaging abnormalities in amyloid-modifying therapeutic trials: recommendations from the Alzheimer's Association Research Roundtable Workgroup.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sperling RA,
|
||
Jack CR Jr,
|
||
Black SE,
|
||
Frosch MP,
|
||
Greenberg SM,
|
||
Hyman BT,
|
||
Scheltens P,
|
||
Carrillo MC,
|
||
Thies W,
|
||
Bednar MM,
|
||
Black RS,
|
||
Brashear HR,
|
||
Grundman M,
|
||
Siemers ER,
|
||
Feldman HH,
|
||
Schindler RJ</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Dement</span>
|
||
2011 Jul;7(4):367-85.
|
||
doi: 10.1016/j.jalz.2011.05.2351.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21784348" target="_blank">21784348</a><a href="/pmc/articles/PMC3693547" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2899772">Randomised trial of intravenous streptokinase, oral aspirin, both, or neither among 17,187 cases of suspected acute myocardial infarction: ISIS-2. ISIS-2 (Second International Study of Infarct Survival) Collaborative Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Lancet</span>
|
||
1988 Aug 13;2(8607):349-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2899772" target="_blank">2899772</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20hemorrhage%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 (8619)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37386419">Triglyceride glucose index is a significant predictor of severe disturbance of consciousness and all-cause mortality in critical cerebrovascular disease patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen T,
|
||
Qian Y,
|
||
Deng X</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Diabetol</span>
|
||
2023 Jun 29;22(1):156.
|
||
doi: 10.1186/s12933-023-01893-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37386419" target="_blank">37386419</a><a href="/pmc/articles/PMC10311865" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36871270">Predictors of unprovoked seizures in intracerebral hemorrhages.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qiang J,
|
||
Wang Y,
|
||
Zhai Q,
|
||
Zhao J,
|
||
Yang Y,
|
||
Wang W</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Dec;123(6):2195-2200.
|
||
Epub 2023 Mar 5
|
||
doi: 10.1007/s13760-023-02226-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36871270" target="_blank">36871270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20056489">Incidence, case fatality, and functional outcome of intracerebral haemorrhage over time, according to age, sex, and ethnic origin: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Asch CJ,
|
||
Luitse MJ,
|
||
Rinkel GJ,
|
||
van der Tweel I,
|
||
Algra A,
|
||
Klijn CJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2010 Feb;9(2):167-76.
|
||
Epub 2010 Jan 5
|
||
doi: 10.1016/S1474-4422(09)70340-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20056489" target="_blank">20056489</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17275656">Hemorrhagic stroke in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jordan LC,
|
||
Hillis AE</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2007 Feb;36(2):73-80.
|
||
doi: 10.1016/j.pediatrneurol.2006.09.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17275656" target="_blank">17275656</a><a href="/pmc/articles/PMC1847395" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11191248">Cerebral haemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen DL</span><br />
|
||
<span class="medgenPMjournal">Age Ageing</span>
|
||
2000 Nov;29(6):547-9.
|
||
doi: 10.1093/ageing/29.6.547.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11191248" target="_blank">11191248</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20hemorrhage%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 (9788)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39557033">Intracerebral Hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee TH</span><br />
|
||
<span class="medgenPMjournal">Cerebrovasc Dis Extra</span>
|
||
2025;15(1):1-8.
|
||
Epub 2024 Nov 18
|
||
doi: 10.1159/000542566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39557033" target="_blank">39557033</a><a href="/pmc/articles/PMC11658787" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33316482">A Meta-analysis of the Predictive Significance of the Island Sign for Hematoma Expansion in Intracerebral Hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou L,
|
||
Jiang Z,
|
||
Tan G,
|
||
Wang Z</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2021 Mar;147:23-28.
|
||
Epub 2020 Dec 13
|
||
doi: 10.1016/j.wneu.2020.12.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33316482" target="_blank">33316482</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33112579">Calculated Decisions: Intracerebral hemorrhage (ICH) score.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kummer B,
|
||
Patel N</span><br />
|
||
<span class="medgenPMjournal">Emerg Med Pract</span>
|
||
2020 Jul 15;22(7):CD5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33112579" target="_blank">33112579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25034055">Hematoma volume as the major determinant of outcomes after intracerebral hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LoPresti MA,
|
||
Bruce SS,
|
||
Camacho E,
|
||
Kunchala S,
|
||
Dubois BG,
|
||
Bruce E,
|
||
Appelboom G,
|
||
Connolly ES Jr</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2014 Oct 15;345(1-2):3-7.
|
||
Epub 2014 Jul 5
|
||
doi: 10.1016/j.jns.2014.06.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25034055" target="_blank">25034055</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22989391">Cerebral microbleeds: do they really predict macrobleeding?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vernooij MW</span><br />
|
||
<span class="medgenPMjournal">Int J Stroke</span>
|
||
2012 Oct;7(7):565-6.
|
||
doi: 10.1111/j.1747-4949.2012.00886.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22989391" target="_blank">22989391</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20hemorrhage%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 (9012)</a></div></div>
|
||
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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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38982935">Quality Improvement Interventions to Prevent Intraventricular Hemorrhage: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edwards EM,
|
||
Ehret DEY,
|
||
Cohen H,
|
||
Zayack D,
|
||
Soll RF,
|
||
Horbar JD</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2024 Aug 1;154(2)
|
||
doi: 10.1542/peds.2023-064431.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38982935" target="_blank">38982935</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38253509">Clinically Important Benefits and Harms of Monoclonal Antibodies Targeting Amyloid for the Treatment of Alzheimer Disease: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebell MH,
|
||
Barry HC,
|
||
Baduni K,
|
||
Grasso G</span><br />
|
||
<span class="medgenPMjournal">Ann Fam Med</span>
|
||
2024 Jan-Feb;22(1):50-62.
|
||
doi: 10.1370/afm.3050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38253509" target="_blank">38253509</a><a href="/pmc/articles/PMC11233076" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37336568">Catheter-directed thrombolysis compared with systemic thrombolysis and anticoagulation in patients with intermediate- or high-risk pulmonary embolism: systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Planer D,
|
||
Yanko S,
|
||
Matok I,
|
||
Paltiel O,
|
||
Zmiro R,
|
||
Rotshild V,
|
||
Amir O,
|
||
Elbaz-Greener G,
|
||
Raccah BH</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2023 Jun 19;195(24):E833-E843.
|
||
doi: 10.1503/cmaj.220960.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37336568" target="_blank">37336568</a><a href="/pmc/articles/PMC10281204" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34057813">Prevalence of cerebral amyloid angiopathy: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jäkel L,
|
||
De Kort AM,
|
||
Klijn CJM,
|
||
Schreuder FHBM,
|
||
Verbeek MM</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Dement</span>
|
||
2022 Jan;18(1):10-28.
|
||
Epub 2021 May 31
|
||
doi: 10.1002/alz.12366.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34057813" target="_blank">34057813</a><a href="/pmc/articles/PMC9290643" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20056489">Incidence, case fatality, and functional outcome of intracerebral haemorrhage over time, according to age, sex, and ethnic origin: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Asch CJ,
|
||
Luitse MJ,
|
||
Rinkel GJ,
|
||
van der Tweel I,
|
||
Algra A,
|
||
Klijn CJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2010 Feb;9(2):167-76.
|
||
Epub 2010 Jan 5
|
||
doi: 10.1016/S1474-4422(09)70340-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20056489" target="_blank">20056489</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20hemorrhage%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 (569)</a></div></div>
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|
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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="https://clinicaltrials.gov/search?cond=Cerebral%20hemorrhage" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22cerebral%20hemorrhage%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(%22Cerebral%20hemorrhage%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="ralinkpop offscreen_noflow">RecName: Full=Filamin-A; Short=FLN-A; AltName: Full=Actin-binding protein 280; Short=ABP-280; AltName: Full=Alpha-filamin; AltName: Full=Endothelial actin-binding protein; AltName: Full=Filamin-1; AltName: Full=Non-muscle filamin<div class="brieflinkpopdesc">gi|116241365|sp|P21333.4|FLNA_HUMAN</div></div>
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