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<meta name="keywords" content="C0031256, disease or syndrome, petechia, petechiae, petechial hemorrhage, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=10680
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ConceptID=C0031256
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Petechiae</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10680</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.">C0031256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Petechia; Petechial hemorrhage</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Petechiae (271813007); Petechia (50091001); Petechial hemorrhage (50091001); Petechiae (50091001)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000967">HP:0000967</a></td></tr>
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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">Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0031256[DISCUI]&test_type=Clinical" ref="ncbi_uid=10680">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Petechiae</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/19974" ref="tree=MeSH" title="MedGen record for Clinical finding">Clinical finding</a></span><ul><li><span class="TLline"><a href="/medgen/232191" ref="tree=MeSH" title="MedGen record for Finding by Cause">Finding by Cause</a></span><ul><li><span class="TLline"><a href="/medgen/5503" ref="tree=MeSH" title="MedGen record for Hemorrhage">Hemorrhage</a></span><ul><li><span class="matched_ds">Petechiae</span></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_945"><div><strong>Hereditary factor IX deficiency disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>945</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.">C0008533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor IX clotting activity. In any individual with hemophilia B, bleeding episodes may be more frequent in childhood and adolescence than in adulthood. Individuals with severe hemophilia B are usually diagnosed during the first two years of life. Without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month, including spontaneous joint or muscle bleeds, and prolonged bleeding or excessive pain and swelling from minor injuries, surgery, and tooth extractions. Individuals with moderate hemophilia B seldom have spontaneous bleeding, although it varies between individuals; however, they do have prolonged or delayed oozing after relatively minor trauma and are usually diagnosed before age five to six years. The frequency of bleeding episodes varies from once a month to once a year. Individuals with mild hemophilia B do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions. The frequency of bleeding may vary from once a year to once every ten years. Individuals with mild hemophilia B are often not diagnosed until later in life. Approximately 30% of heterozygous females have factor IX clotting activity lower than 40% and are at risk for bleeding (even if the affected family member has mild hemophilia B). As in males, bleeding severity generally correlates with factor levels. After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_5288"><div><strong>Fucosidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5288</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.">C0016788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_5501"><div><strong>Hereditary factor VIII deficiency disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5501</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.">C0019069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged bleeding after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor VIII clotting activity. Individuals with severe hemophilia A are usually diagnosed during the first two years of life following oral or soft tissue bleeding either with procedures or due to a known family history of hemophilia. Without prophylactic treatment, individuals may average up to two to five spontaneous bleeding episodes each month including spontaneous joint bleeds or deep-muscle hematomas, and prolonged bleeding or excessive pain and swelling from minor injuries, surgery, and tooth extractions. Individuals with moderate hemophilia A seldom have spontaneous bleeding, although it varies between individuals; however, they do have prolonged or delayed bleeding after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies, usually from once a month to once a year. Individuals with mild hemophilia A do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding episodes varies widely, typically from once a year to once every ten years. Individuals with mild hemophilia A are often not diagnosed until later in life. Approximately 30% of heterozygous females have factor VIII clotting activity below 40% and are at risk for bleeding (even if males in the family are only mildly affected). After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity. In addition, 25% of heterozygous females with normal factor VIII clotting activity report an increased bleeding tendency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5501">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_21921"><div><strong>Wiskott-Aldrich syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21921</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.">C0043194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes. Wiskott-Aldrich syndrome usually presents in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; recurrent bacterial, viral, fungal, and/or opportunistic infections; and eczema. Approximately 25%-40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, vasculitis, rheumatoid arthritis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have small platelet volume and thrombocytopenia. Severe disease-related events include severe bleeding episodes (14%), autoimmunity (12%), life-threatening infections (7%), and malignancy (5%). Males with XLN typically have congenital neutropenia associated with myelodysplasia, hyperactive neutrophils, increased myeloid cell apoptosis, and lymphoid cell abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21921">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120647"><div><strong>Prolidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120647</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.">C0268532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic facial features, variable intellectual disability, and organomegaly (typically splenomegaly but occasionally associated with hepatomegaly) with elevated liver enzymes. Skeletal anomalies, chronic pulmonary disease, anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are observed in a minority of affected individuals. An association between prolidase deficiency and autoimmune conditions – particularly systemic lupus erythematosus (SLE) – has been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120647">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162912"><div><strong>Aicardi-Goutieres syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162912</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.">C0796126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162912">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_321945"><div><strong>Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321945</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.">C1832388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RUNX1 familial platelet disorder with associated myeloid malignancies (RUNX1-FPDMM) is characterized by prolonged bleeding and/or easy bruising and an increased risk of developing a hematologic malignancy. RUNX1-FPDMM is characterized by thrombocytopenia with normal platelet size; bleeding is often greater than expected due to qualitative platelet dysfunction. Myeloid malignancies are the most common, including acute myelogenous leukemia and myelodysplastic syndrome. T- and B-cell acute lymphoblastic leukemias and lymphomas have also been reported, as well as skin manifestations (e.g., eczema, psoriasis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/321945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324539"><div><strong>Alpha-N-acetylgalactosaminidase deficiency type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324539</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.">C1836522</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324539">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326415"><div><strong>Beta-thalassemia-X-linked thrombocytopenia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326415</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.">C1839161</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from mild to severe. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are lifelong; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. One or more of the following may also be present: neutropenia, splenomegaly, cryptorchidism, hypospadias, and rarely additional clinical features of Diamond-Blackfan anemia. Heterozygous females may have mild-to-moderate symptoms such as menorrhagia. Rarely, GATA1-related cytopenia can progress to myelodysplastic syndrome or aplastic anemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326415">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326416"><div><strong>Thrombocytopenia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326416</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.">C1839163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes. Wiskott-Aldrich syndrome usually presents in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; recurrent bacterial, viral, fungal, and/or opportunistic infections; and eczema. Approximately 25%-40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, vasculitis, rheumatoid arthritis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have small platelet volume and thrombocytopenia. Severe disease-related events include severe bleeding episodes (14%), autoimmunity (12%), life-threatening infections (7%), and malignancy (5%). Males with XLN typically have congenital neutropenia associated with myelodysplasia, hyperactive neutrophils, increased myeloid cell apoptosis, and lymphoid cell abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326416">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374996"><div><strong>Gaucher disease perinatal lethal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374996</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.">C1842704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374996">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346497"><div><strong>Ehlers-Danlos syndrome, fibronectinemic type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346497</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.">C1857038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346497">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349065"><div><strong>Autoimmune lymphoproliferative syndrome type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349065</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.">C1858968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349065">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_396078"><div><strong>Platelet-type bleeding disorder 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396078</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.">C1861194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355966"><div><strong>Ethylmalonic encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355966</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.">C1865349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ethylmalonic encephalopathy (EE) is a severe, early-onset, progressive disorder characterized by developmental delay / mild-to-severe intellectual disability; generalized infantile hypotonia that evolves into hypertonia, spasticity, and (in some instances) dystonia; generalized tonic-clonic seizures; and generalized microvascular damage (diffuse and spontaneous relapsing petechial purpura, hemorrhagic suffusions of mucosal surfaces, and chronic hemorrhagic diarrhea). Infants sometimes have frequent vomiting and loss of social interaction. Speech is delayed and in some instances absent. Swallowing difficulties and failure to thrive are common. Children may be unable to walk without support and may be wheelchair bound. Neurologic deterioration accelerates following intercurrent infectious illness, and the majority of children die in the first decade.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355966">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370598"><div><strong>Autosomal recessive osteopetrosis 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370598</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.">C1969106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related autosomal recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII; Albers-Schönberg disease). ARO. Onset is at birth. Findings may include: fractures; reduced growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. IAO. Onset is in childhood. Findings may include: fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. ADOII. Onset is usually late childhood or adolescence. Findings may include: fractures (in any long bone and/or the posterior arch of a vertebra), scoliosis, hip osteoarthritis, and osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_437174"><div><strong>Thrombocytopenia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>437174</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.">C2678311</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia-3 (THC3) is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by Levin et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/437174">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411605"><div><strong>Leukocyte adhesion deficiency 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411605</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.">C2748536</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 (116920)-like immune deficiency and Glanzmann thrombasthenia (GT; 273800)-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' (Svensson et al., 2009; Zimmerman, 2009). For a discussion of genetic heterogeneity of leukocyte adhesion deficiency, see 116920.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411605">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_478706"><div><strong>Bernard-Soulier syndrome, type A2, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478706</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.">C3277076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant Bernard-Soulier syndrome type A2 (BSSA2) is characterized by chronic macrothrombocytopenia with mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count. When present, clinical findings include excessive ecchymoses, frequent epistaxis, gingival bleeding, prolonged menstrual periods, or prolonged bleeding after tooth extraction (Savoia et al., 2001). Genetic Heterogeneity of Bernard-Soulier Syndrome Homozygous or compound heterozygous mutations in the GP1BA gene cause classic autosomal recessive Bernard-Soulier syndrome (BSSA1; 231200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478706">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763703"><div><strong>Thrombocytopenia, X-linked, with or without dyserythropoietic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763703</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.">C3550789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from mild to severe. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are lifelong; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. One or more of the following may also be present: neutropenia, splenomegaly, cryptorchidism, hypospadias, and rarely additional clinical features of Diamond-Blackfan anemia. Heterozygous females may have mild-to-moderate symptoms such as menorrhagia. Rarely, GATA1-related cytopenia can progress to myelodysplastic syndrome or aplastic anemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863974"><div><strong>Thrombocytopenia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863974</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.">C4015537</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with ETV6 thrombocytopenia and predisposition to leukemia most often present with a lifelong history of thrombocytopenia, which is usually in the mild to moderate range. No syndromic features or associations are consistently shared across pedigrees. Affected individuals also have a moderate risk of developing a hematologic malignancy (with B-cell acute lymphoblastic leukemia [B-ALL] being the most common) and possibly other malignant solid tumors, particularly colorectal cancer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863974">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924576"><div><strong>MIRAGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924576</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.">C4284088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924576">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>
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||
<div class="divPopper rprt" id="rdis_1637913"><div><strong>Radioulnar synostosis with amegakaryocytic thrombocytopenia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637913</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.">C4551975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015). Genetic Heterogeneity of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia Radioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2; 616738) is caused by heterozygous mutation in the MECOM gene (165215) on chromosome 3q26.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1637913">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639355"><div><strong>Pseudo-TORCH syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639355</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.">C4552078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639355">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1781222"><div><strong>Platelet-type bleeding disorder 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781222</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.">C5442010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). Genetic Heterogeneity of Glanzmann Thrombasthenia-like with Macrothromocytopenia See BDPLT24 (619271), caused by mutation in the ITGB3 gene (173470) on chromosome 17q21.32. Together the ITGB2B and ITBG3 genes form an integrin, known as platelet glycoprotein GPIIb/III, that is expressed on platelets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1781222">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1788669"><div><strong>Immunodeficiency 81</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788669</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.">C5543540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-81 (IMD81) is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy. The phenotype is highly variable and may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease. Immunologic workup shows immune dysregulation with abnormalities affecting multiple immune cell lineages, including T cells, B cells, NK cells, and neutrophils, which may be decreased or increased and demonstrate functional deficits. There is a wide range of hematologic abnormalities. Affected individuals may be susceptible to severe EBV infection. The disorder is caused by a defect in intracellular immune signaling pathways (summary by Lev et al., 2021; Edwards et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1788669">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794158"><div><strong>Portal hypertension, noncirrhotic, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794158</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.">C5561948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noncirrhotic portal hypertension-2 (NCPH2) is an autosomal recessive disorder characterized by signs of liver dysfunction that become apparent in the first decades of life. Affected individuals have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. Liver biopsy is notable for the absence of cirrhosis and the presence of nodular regeneration. Liver sinusoidal endothelial cells (LSECs) have abnormal expression of CD34 (142230) (summary by Drzewiecki et al., 2021). For a discussion of genetic heterogeneity of NCPH, see 617068.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794158">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824030"><div><strong>Dyskeratosis congenita, autosomal recessive 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824030</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.">C5774257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive dyskeratosis congenita-8 (DKCB8) is characterized by progressive bone marrow failure affecting all lineages apparent from infancy or early childhood. More variable features may include poor growth, mild developmental delay, immunodeficiency, and gastrointestinal manifestations, such as esophageal stricture or inflammatory bowel disease. Some patients may have mucocutaneous features, including oral leukoplakia, nail dystrophy, or pigmentary skin abnormalities, although these features may be absent. Unlike patients with other forms of DKC, those with DKCB8 do not have shortened telomeres, although there is evidence of telomere instability. Hematopoietic stem cell transplant may be curative (Kermasson et al., 2022). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824030">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841007"><div><strong>Autoinflammation with pulmonary and cutaneous vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841007</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.">C5830371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoinflammation with pulmonary and cutaneous vasculitis (AIPCV) is a disorder of immune dysregulation manifest as skin lesions (petechiae and purpura) appearing soon after birth followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. Other features may include hepatosplenomegaly and anemia (Kanderova et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841007">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841075"><div><strong>Hatipoglu immunodeficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841075</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.">C5830439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hatipoglu immunodeficiency syndrome (HATIS) is an autosomal recessive immunologic disorder characterized by childhood onset of failure to thrive, skin manifestations, pancytopenia, and susceptibility to recurrent infections (Harapas et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841075">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847968"><div><strong>Immune dysregulation, autoimmunity, and autoinflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847968</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.">C5848750</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immune dysregulation, autoimmunity, and autoinflammation (IDAA) is an immunologic disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, and increased levels of proinflammatory cytokines due to constitutive activation of immune-related signaling pathways (Tao et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847968">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847819"><div><strong>Thrombocytopenia 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847819</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.">C5882682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia-10 (THC10) is an autosomal recessive disorder characterized by decreased numbers of platelets apparent from birth or early childhood. Affected individuals may have mild bleeding tendency. Platelets are small, but do not show other morphologic defects. Platelets and megakaryocytes do show functional and developmental defects due to impaired activation of signaling pathways (Marconi et al., 2019). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847819">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1859086"><div><strong>Amyloidosis, hereditary systemic 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1859086</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.">C5935572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary systemic amyloidosis-5 (AMYLD5) is a rare amyloidosis that can affect the viscera, with severe involvement when located in the kidneys and liver. Renal dysfunction of varying severity may be the predominant manifestation. Massive hepatic hemorrhage constitutes the other severe visceral involvement. Dermatologic manifestations are rare (summary by Granel et al., 2005). The various forms of hereditary systemic amyloidosis that do not have peripheral neuropathy as part of the clinical syndrome had been referred to as 'Ostertag type' (Benson, 2005). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1859086">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861803"><div><strong>Thrombocytopenia 12 with or without myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861803</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.">C5935593</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia-12 with or without myopathy (THC12) is an autosomal recessive disorder characterized by congenital thrombocytopenia apparent from infancy or early childhood. Most affected individuals have bleeding episodes, including petechiae, easy bruising, epistaxis, hematomas, menorrhagia, and increased bleeding after trauma or surgery, although rare patients may have thrombocytopenia without bleeding. Platelets are enlarged (macrothrombocytopenia), and there is an increase of circulating immature platelets, consistent with increased production. Patient platelets show hyposialylation due to GNE mutations, which causes increased removal of platelets from the circulation, shortened platelet lifespan, and resultant thrombocytopenia. In contrast to the thrombocytopenia, which is present since birth or early childhood, features of myopathy usually do not develop until the mid-twenties, similar to Nonaka myopathy (summary by Zhen et al., 2014, Izumi et al., 2014; Bottega et al., 2022). For a discussion of genetic heterogeneity of thrombocytopenia, see THC1 (313900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861803">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alpha-N-acetylgalactosaminidase deficiency type 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1859086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyloidosis, hereditary systemic 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune lymphoproliferative syndrome type 2A</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammation with pulmonary and cutaneous vasculitis</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (35)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive osteopetrosis 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_478706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bernard-Soulier syndrome, type A2, autosomal dominant</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beta-thalassemia-X-linked thrombocytopenia syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 8</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, fibronectinemic type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ethylmalonic encephalopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fucosidosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease perinatal lethal</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hatipoglu immunodeficiency syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary factor IX deficiency disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary factor VIII deficiency disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_321945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immune dysregulation, autoimmunity, and autoinflammation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1788669" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 81</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukocyte adhesion deficiency 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924576" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MIRAGE syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platelet-type bleeding disorder 16</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platelet-type bleeding disorder 17</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Portal hypertension, noncirrhotic, 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolidase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639355" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudo-TORCH syndrome 1</a></div>
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<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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1637913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radioulnar synostosis with amegakaryocytic thrombocytopenia 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847819" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 10</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 12 with or without myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_437174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia, X-linked, with or without dyserythropoietic anemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_21921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wiskott-Aldrich syndrome</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/36126009">Thrombocytopenia: Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gauer RL,
|
||
Whitaker DJ</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2022 Sep;106(3):288-298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36126009" target="_blank">36126009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29307210">Bleeding in cancer patients and its treatment: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnstone C,
|
||
Rich SE</span><br />
|
||
<span class="medgenPMjournal">Ann Palliat Med</span>
|
||
2018 Apr;7(2):265-273.
|
||
Epub 2017 Dec 18
|
||
doi: 10.21037/apm.2017.11.01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29307210" target="_blank">29307210</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20413568">EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final classification criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozen S,
|
||
Pistorio A,
|
||
Iusan SM,
|
||
Bakkaloglu A,
|
||
Herlin T,
|
||
Brik R,
|
||
Buoncompagni A,
|
||
Lazar C,
|
||
Bilge I,
|
||
Uziel Y,
|
||
Rigante D,
|
||
Cantarini L,
|
||
Hilario MO,
|
||
Silva CA,
|
||
Alegria M,
|
||
Norambuena X,
|
||
Belot A,
|
||
Berkun Y,
|
||
Estrella AI,
|
||
Olivieri AN,
|
||
Alpigiani MG,
|
||
Rumba I,
|
||
Sztajnbok F,
|
||
Tambic-Bukovac L,
|
||
Breda L,
|
||
Al-Mayouf S,
|
||
Mihaylova D,
|
||
Chasnyk V,
|
||
Sengler C,
|
||
Klein-Gitelman M,
|
||
Djeddi D,
|
||
Nuno L,
|
||
Pruunsild C,
|
||
Brunner J,
|
||
Kondi A,
|
||
Pagava K,
|
||
Pederzoli S,
|
||
Martini A,
|
||
Ruperto N;
|
||
Paediatric Rheumatology International Trials Organisation (PRINTO)</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2010 May;69(5):798-806.
|
||
doi: 10.1136/ard.2009.116657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20413568" target="_blank">20413568</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22petechiae%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 (50)</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/30868551">Epidemiology and Clinical Manifestations of Immune Thrombocytopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohli R,
|
||
Chaturvedi S</span><br />
|
||
<span class="medgenPMjournal">Hamostaseologie</span>
|
||
2019 Aug;39(3):238-249.
|
||
Epub 2019 Mar 13
|
||
doi: 10.1055/s-0039-1683416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30868551" target="_blank">30868551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28052946">Dabigatran-related leukocytoclastic vasculitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">An J,
|
||
Garje R,
|
||
Wanat KA,
|
||
Leone JP</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2017 Jan 4;2017
|
||
doi: 10.1136/bcr-2016-217423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28052946" target="_blank">28052946</a><a href="/pmc/articles/PMC5256400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25822555">Common questions about infectious mononucleosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Womack J,
|
||
Jimenez M</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2015 Mar 15;91(6):372-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25822555" target="_blank">25822555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15708291">Genetic immunodeficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paller AS</span><br />
|
||
<span class="medgenPMjournal">Clin Dermatol</span>
|
||
2005 Jan-Feb;23(1):68-77.
|
||
doi: 10.1016/j.clindermatol.2004.09.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15708291" target="_blank">15708291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12749681">Congenital cytomegalovirus infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leung AK,
|
||
Sauve RS,
|
||
Davies HD</span><br />
|
||
<span class="medgenPMjournal">J Natl Med Assoc</span>
|
||
2003 Mar;95(3):213-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12749681" target="_blank">12749681</a><a href="/pmc/articles/PMC2594406" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Petechiae%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 (553)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38944486">Pediatric Immune Thrombocytopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gotesman M,
|
||
Shear M,
|
||
Raheel S,
|
||
Procassini M,
|
||
Panosyan EH</span><br />
|
||
<span class="medgenPMjournal">Adv Pediatr</span>
|
||
2024 Aug;71(1):229-240.
|
||
Epub 2024 Apr 6
|
||
doi: 10.1016/j.yapd.2024.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38944486" target="_blank">38944486</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33236823">Oral manifestations of COVID-19 disease: A review article.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iranmanesh B,
|
||
Khalili M,
|
||
Amiri R,
|
||
Zartab H,
|
||
Aflatoonian M</span><br />
|
||
<span class="medgenPMjournal">Dermatol Ther</span>
|
||
2021 Jan;34(1):e14578.
|
||
Epub 2020 Dec 13
|
||
doi: 10.1111/dth.14578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33236823" target="_blank">33236823</a><a href="/pmc/articles/PMC7744903" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32358028">Platelet Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haley KM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2020 May;41(5):224-235.
|
||
doi: 10.1542/pir.2018-0359.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32358028" target="_blank">32358028</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21121523">Oral manifestations of systemic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chi AC,
|
||
Neville BW,
|
||
Krayer JW,
|
||
Gonsalves WC</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2010 Dec 1;82(11):1381-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21121523" target="_blank">21121523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19932334">Chronic venous disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolinsky CD,
|
||
Waldorf H</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2009 Nov;93(6):1333-46.
|
||
doi: 10.1016/j.mcna.2009.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19932334" target="_blank">19932334</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Petechiae%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 (863)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38944486">Pediatric Immune Thrombocytopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gotesman M,
|
||
Shear M,
|
||
Raheel S,
|
||
Procassini M,
|
||
Panosyan EH</span><br />
|
||
<span class="medgenPMjournal">Adv Pediatr</span>
|
||
2024 Aug;71(1):229-240.
|
||
Epub 2024 Apr 6
|
||
doi: 10.1016/j.yapd.2024.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38944486" target="_blank">38944486</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32915931">What's eating you? Megalopyge opercularis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Estrella M,
|
||
Elston DM</span><br />
|
||
<span class="medgenPMjournal">Cutis</span>
|
||
2020 Jul;106(1):23-24;27.
|
||
doi: 10.12788/cutis.0058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32915931" target="_blank">32915931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28052946">Dabigatran-related leukocytoclastic vasculitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">An J,
|
||
Garje R,
|
||
Wanat KA,
|
||
Leone JP</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2017 Jan 4;2017
|
||
doi: 10.1136/bcr-2016-217423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28052946" target="_blank">28052946</a><a href="/pmc/articles/PMC5256400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15508538">Epstein-Barr virus infectious mononucleosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebell MH</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2004 Oct 1;70(7):1279-87.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15508538" target="_blank">15508538</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12749681">Congenital cytomegalovirus infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leung AK,
|
||
Sauve RS,
|
||
Davies HD</span><br />
|
||
<span class="medgenPMjournal">J Natl Med Assoc</span>
|
||
2003 Mar;95(3):213-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12749681" target="_blank">12749681</a><a href="/pmc/articles/PMC2594406" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Petechiae%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 (562)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32613545">Dermatological Toxicities of Bruton's Tyrosine Kinase Inhibitors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sibaud V,
|
||
Beylot-Barry M,
|
||
Protin C,
|
||
Vigarios E,
|
||
Recher C,
|
||
Ysebaert L</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2020 Dec;21(6):799-812.
|
||
doi: 10.1007/s40257-020-00535-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32613545" target="_blank">32613545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30868551">Epidemiology and Clinical Manifestations of Immune Thrombocytopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohli R,
|
||
Chaturvedi S</span><br />
|
||
<span class="medgenPMjournal">Hamostaseologie</span>
|
||
2019 Aug;39(3):238-249.
|
||
Epub 2019 Mar 13
|
||
doi: 10.1055/s-0039-1683416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30868551" target="_blank">30868551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15708291">Genetic immunodeficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paller AS</span><br />
|
||
<span class="medgenPMjournal">Clin Dermatol</span>
|
||
2005 Jan-Feb;23(1):68-77.
|
||
doi: 10.1016/j.clindermatol.2004.09.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15708291" target="_blank">15708291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15508538">Epstein-Barr virus infectious mononucleosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebell MH</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2004 Oct 1;70(7):1279-87.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15508538" target="_blank">15508538</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12749681">Congenital cytomegalovirus infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leung AK,
|
||
Sauve RS,
|
||
Davies HD</span><br />
|
||
<span class="medgenPMjournal">J Natl Med Assoc</span>
|
||
2003 Mar;95(3):213-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12749681" target="_blank">12749681</a><a href="/pmc/articles/PMC2594406" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Petechiae%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 (372)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38469805">Appropriateness of Use of Streptococcal Pharyngitis Testing and Associated Antibiotic Prescribing in the Urgent Care Setting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haynes MA,
|
||
Temkit M,
|
||
Kushner I,
|
||
Hindman DE</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
2024 Dec;63(12):1691-1697.
|
||
Epub 2024 Mar 12
|
||
doi: 10.1177/00099228241237908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38469805" target="_blank">38469805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31556723">Cutaneous Manifestations of Zika in Peru.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramos W,
|
||
Luna M,
|
||
Alarcón T,
|
||
Jiménez G,
|
||
Díaz J,
|
||
Calderón M,
|
||
Gutierrez EL</span><br />
|
||
<span class="medgenPMjournal">J Cutan Med Surg</span>
|
||
2020 Jan/Feb;24(1):33-40.
|
||
Epub 2019 Sep 26
|
||
doi: 10.1177/1203475419878160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31556723" target="_blank">31556723</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25102482">Petechiae and purpura: the ominous and the not-so-obvious?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Block SL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
2014 Aug;43(8):297-303.
|
||
doi: 10.3928/00904481-20140723-03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25102482" target="_blank">25102482</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12679653">Case series of thrombotic thrombocytopenic purpura in children and adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horton TM,
|
||
Stone JD,
|
||
Yee D,
|
||
Dreyer Z,
|
||
Moake JL,
|
||
Mahoney DH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2003 Apr;25(4):336-9.
|
||
doi: 10.1097/00043426-200304000-00016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12679653" target="_blank">12679653</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1599272">Suction purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Metzker A,
|
||
Merlob P</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1992 Jun;128(6):822-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1599272" target="_blank">1599272</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Petechiae%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 (379)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/39287269">Clinical efficacy and adverse effects of LMWH combined with ASA in the treatment of RSA: A meta-analysis and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu F,
|
||
Shi D,
|
||
Jin R,
|
||
Yu X</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2024 Sep 13;103(37):e39603.
|
||
doi: 10.1097/MD.0000000000039603.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39287269" target="_blank">39287269</a><a href="/pmc/articles/PMC11404929" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35648785">Oro-facial mucocutaneous manifestations of Coronavirus Disease-2019 (COVID-19): A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fakhruddin KS,
|
||
Samaranayake LP,
|
||
Buranawat B,
|
||
Ngo H</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(6):e0265531.
|
||
Epub 2022 Jun 1
|
||
doi: 10.1371/journal.pone.0265531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35648785" target="_blank">35648785</a><a href="/pmc/articles/PMC9159624" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34912330">COVID-19 Vaccine-Related Thrombosis: A Systematic Review and Exploratory Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bilotta C,
|
||
Perrone G,
|
||
Adelfio V,
|
||
Spatola GF,
|
||
Uzzo ML,
|
||
Argo A,
|
||
Zerbo S</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:729251.
|
||
Epub 2021 Nov 29
|
||
doi: 10.3389/fimmu.2021.729251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34912330" target="_blank">34912330</a><a href="/pmc/articles/PMC8666479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32914677">Oral Manifestations in Patients with COVID-19: A Living Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amorim Dos Santos J,
|
||
Normando AGC,
|
||
Carvalho da Silva RL,
|
||
Acevedo AC,
|
||
De Luca Canto G,
|
||
Sugaya N,
|
||
Santos-Silva AR,
|
||
Guerra ENS</span><br />
|
||
<span class="medgenPMjournal">J Dent Res</span>
|
||
2021 Feb;100(2):141-154.
|
||
Epub 2020 Sep 11
|
||
doi: 10.1177/0022034520957289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32914677" target="_blank">32914677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27647842">Clinical presentation of childhood leukaemia: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clarke RT,
|
||
Van den Bruel A,
|
||
Bankhead C,
|
||
Mitchell CD,
|
||
Phillips B,
|
||
Thompson MJ</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2016 Oct;101(10):894-901.
|
||
doi: 10.1136/archdischild-2016-311251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27647842" target="_blank">27647842</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Petechiae%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 (22)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
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||
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|
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|
||
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||
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||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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||
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0031256%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0031256%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0031256%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Petechiae" 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=(%22petechiae%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(%22Petechiae%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Petechiae" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Petechiae" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Petechiae%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0031256[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d432bacde49f3df7c76c86">Petechiae</a>
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<div class="ralinkpop offscreen_noflow">Petechiae<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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