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<!--
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UID=1377250
|
||
ConceptID=C4477095
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Increased circulating lactate dehydrogenase concentration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1377250</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.">C4477095</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Increased lactate dehydrogenase activity</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:0025435">HP:0025435</a></td></tr>
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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>
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||
<div class="portlet_content ln">An elevated level of the enzyme lactate dehydrogenase in the blood circulation. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Increased circulating lactate dehydrogenase concentration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1841674" ref="tree=MeSH" title="MedGen record for Abnormal enzyme concentration or activity">Abnormal enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/1841554" ref="tree=MeSH" title="MedGen record for Abnormal circulating enzyme concentration or activity">Abnormal circulating enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/892640" ref="tree=MeSH" title="MedGen record for Abnormal circulating lactate dehydrogenase concentration">Abnormal circulating lactate dehydrogenase concentration</a></span><ul><li><span class="matched_ds">Increased circulating lactate dehydrogenase concentration</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<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_40266"><div><strong>Cholesteryl ester storage disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40266</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.">C0008384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by infantile-onset malabsorption that results in malnutrition, storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and adrenal gland calcification that results in adrenal cortical insufficiency. Unless successfully treated with hematopoietic stem cell transplantation (HSCT), infants with classic Wolman disease do not survive beyond age one year. CESD may present in childhood in a manner similar to Wolman disease or later in life with such findings as serum lipid abnormalities, hepatosplenomegaly, and/or elevated liver enzymes long before a diagnosis is made. The morbidity of late-onset CESD results from atherosclerosis (coronary artery disease, stroke), liver disease (e.g., altered liver function ± jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices, and/or liver failure), complications of secondary hypersplenism (i.e., anemia and/or thrombocytopenia), and/or malabsorption. Individuals with CESD may have a normal life span depending on the severity of disease manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40266">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_5340"><div><strong>Glycogen storage disease, type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5340</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.">C0017921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5340">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_5342"><div><strong>Glycogen storage disease, type VII</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5342</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.">C0017926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5342">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_18145"><div><strong>Lowe syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18145</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.">C0028860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82895"><div><strong>HNSHA due to aldolase A deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82895</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.">C0272066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82895">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98277"><div><strong>Chorea-acanthocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98277</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.">C0393576</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VPS13A disease, caused by VPS13A loss-of-function pathogenic variants, is characterized by a spectrum of movement disorders (chorea, dystonia, tics, sometimes parkinsonism); predominant orofacial choreic and dystonic movements and tics (with involuntary tongue protrusion on attempted swallowing, habitual tongue and lip biting resulting in self-mutilation, involuntary vocalizations); dysarthria and dysphagia; psychiatric, cognitive, and behavioral changes ("frontal lobe type"); seizures; and progressive neuromuscular involvement. Huntingtonism (triad of progressive movement disorder and cognitive and behavioral alterations) is a typical presentation. Phenotypic variability is considerable even within the same family, including for monozygotic twins. Mean age of onset is about 30 years. VPS13A disease runs a chronic progressive course and may lead to major disability within a few years. Some affected individuals are bedridden or wheelchair dependent by the third decade. Age at death ranges from 28 to 61 years; several instances of sudden unexplained death or death during epileptic seizures have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98277">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140765"><div><strong>McLeod neuroacanthocytosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140765</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.">C0398568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males: CNS manifestations are a neurodegenerative basal ganglia disease including movement disorders, cognitive alterations, and psychiatric symptoms. Neuromuscular manifestations include a (mostly subclinical) sensorimotor axonopathy and muscle weakness or atrophy of different degrees. Cardiac manifestations include dilated cardiomyopathy, atrial fibrillation, and tachyarrhythmia. Hematologically, MLS is defined as a specific blood group phenotype (named after the first proband, Hugh McLeod) that results from absent expression of the Kx erythrocyte antigen and weakened expression of Kell blood group antigens. The hematologic manifestations are red blood cell acanthocytosis and compensated hemolysis. Alloantibodies in the Kell and Kx blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in affected male newborns of Kell-negative mothers. Females heterozygous for XK pathogenic variants have mosaicism for the Kell and Kx blood group antigens. Although they usually lack CNS and neuromuscular manifestations, some heterozygous females may develop clinical manifestations including chorea or late-onset cognitive decline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140765">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162891"><div><strong>Charcot-Marie-Tooth disease X-linked recessive 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162891</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.">C0795910</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4) is a mitochondrial disorder manifest as progressive neurologic dysfunction with highly variable features. The age at onset ranges from infancy to young adulthood, and patients can present with different features, including hearing loss, delayed motor development, or difficulty walking due to peripheral neuropathy and/or cerebellar ataxia. Most patients develop all features, including a progressive sensorimotor axonal neuropathy and deafness due to auditory neuropathy. Additional more variable features can include cognitive impairment, cerebellar atrophy on brain imaging, cerebellar signs, such as dysarthria, abnormal extraocular movements, tremor, and dysmetria, as well as spasticity. There is significant intrafamilial variability: the variable features are consistent with mitochondrial dysfunction. Prolonged treatment with riboflavin may result in some mild improvement in the ataxia (summary by Rinaldi et al., 2012, Heimer et al., 2018, Bogdanova-Mihaylova et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162891">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_235598"><div><strong>Hereditary intrinsic factor deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235598</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.">C1394891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intrinsic factor deficiency (IFD), or congenital pernicious anemia, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322211"><div><strong>Carnitine palmitoyl transferase II deficiency, severe infantile form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322211</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.">C1833511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322211">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333882"><div><strong>Heme oxygenase 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333882</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.">C1841651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heme oxygenase-1 deficiency (HMOX1D) is a rare autosomal recessive disorder with a complex clinical presentation including direct antibody negative hemolytic anemia, low bilirubin, and hyperinflammation (summary by Chau et al., 2020). Other features may include asplenia and nephritis (Radhakrishnan et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333882">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336867"><div><strong>Dent disease type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336867</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.">C1845167</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340308"><div><strong>Myoglobinuria, acute recurrent, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340308</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.">C1849386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (232600), carnitine palmitoyltransferase deficiency (see 255110), and the Creteil variety of phosphoglycerate kinase deficiency (311800), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections (Ramesh and Gardner-Medwin, 1992). See 160010 for discussion of a possible autosomal dominant form of myoglobinuria. Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (145600), an autosomal dominant disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340308">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376708"><div><strong>Autosomal recessive osteopetrosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376708</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.">C1850127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive Osteopetrosis Other forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (611490), which is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13, and OPTB5 (259720), which is caused by mutation in the OSTM1 gene (607649) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; 259710) is caused by mutation in the TNFSF11 gene (602642) on chromosome 13q14, an intermediate form (OPTB6; 611497) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; 612301) is caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q21. Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. OPTB9 (620366) is caused by mutation in the SLC4A2 gene (109280) on chromosome 7q36. Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376708">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347272"><div><strong>Gamma-glutamylcysteine synthetase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347272</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.">C1856603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gamma-glutamylcysteine synthetase deficiency is 1 of 4 diseases involving enzymes in the gamma-glutamyl cycle (Meister, 1974). The other 3 disorders are glutathione synthetase deficiency (231900), 5-oxoprolinuria, which is a severe or generalized form of glutathione synthetase deficiency (266130), and gamma-glutamyl transpeptidase deficiency (231950). All except gamma-glutamyl transpeptidase deficiency are accompanied by hemolytic anemia (Larsson and Anderson, 2001). Some patients with CNSHA7 may develop progressive neurologic abnormalities, including ataxic gait, speech impairment, and spinocerebellar degeneration (Konrad et al., 1972). The hemolytic anemia caused by mutation in the GCLC gene is here designated congenital nonspherocytic hemolytic anemia-7 (CNSHA7).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347272">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388129"><div><strong>Poikiloderma with neutropenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388129</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.">C1858723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (appears at ages 6-12 months) followed by post-inflammatory poikiloderma (at age >2 years) and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life and (often) bronchiectasis. There is increased risk for myelodysplastic syndrome, acute myelogenous leukemia, and skin cancer. Other ectodermal findings include thickened nails, nail dystrophy, and palmar/plantar hyperkeratosis. Most affected individuals also have reactive airway disease, and some have short stature, hypogonadotropic hypogonadism, midfacial retrusion, calcinosis cutis, and non-healing skin ulcers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388129">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350028"><div><strong>Stormorken syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350028</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.">C1861451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350028">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_368373"><div><strong>Mevalonic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>368373</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.">C1959626</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mevalonic aciduria (MEVA), the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910). Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/368373">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370849"><div><strong>Intellectual disability, autosomal recessive 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370849</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.">C1970199</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370849">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_440842"><div><strong>Megaloblastic anemia, folate-responsive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440842</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.">C2749656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Folate-responsive megaloblastic anemia (MEGAF) is an autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Although serum levels of folate are normal, there is folate deficiency in tissues, including erythrocytes and possibly nerve cells. Serum homocysteine levels are increased and vitamin B12 levels may be decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine (summary by Svaton et al., 2020)</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440842">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_440869"><div><strong>Sitosterolemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440869</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.">C2749759</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows, and buttocks); Premature atherosclerosis, which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation or the only clinical feature of this disorder. Arthritis, arthralgias, and splenomegaly may sometimes be seen and one study has concluded that "idiopathic" liver disease could be undiagnosed sitosterolemia. The clinical spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that the phenotype in infants is likely to be highly dependent on diet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440869">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414399"><div><strong>3-hydroxy-3-methylglutaryl-CoA synthase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414399</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.">C2751532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial HMG-CoA synthase deficiency (HMGCS2D) is an inherited metabolic disorder caused by a defect in the enzyme that regulates the formation of ketone bodies. Patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting (summary by Aledo et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414399">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461764"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461764</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.">C3150414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461764">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462276"><div><strong>Congenital dyserythropoietic anemia type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462276</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.">C3150926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital dyserythropoietic anemia type IVa (CDAN4A) is an autosomal dominant red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4A also have increased levels of fetal hemoglobin (summary by Arnaud et al., 2010). For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see CDAN1 (224120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462276">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462555"><div><strong>Constitutional megaloblastic anemia with severe neurologic disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462555</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.">C3151205</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462555">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482073"><div><strong>Distal myopathy, Tateyama type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482073</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.">C3280443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/482073">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766854"><div><strong>Peroxisome biogenesis disorder 5A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766854</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.">C3553940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766854">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934678"><div><strong>Myofibrillar myopathy 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934678</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.">C4310711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures (summary by Straussberg et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1615364"><div><strong>Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615364</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.">C4540434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1615364">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778853"><div><strong>Spinocerebellar ataxia, autosomal recessive 30</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778853</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.">C5543620</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-30 (SCAR30) is a progressive neurologic disorder characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia. Affected individuals may also have psychiatric abnormalities, such as obsessive behavior, psychotic episodes, or hallucinations. Brain imaging usually shows cerebellar atrophy, although this may be an age-dependent feature (summary by Langer et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778853">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794283"><div><strong>Immunodeficiency 91 and hyperinflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794283</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.">C5562073</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-91 and hyperinflammation (IMD91) is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. Most patients eventually develop hepatic or renal failure, compromised neurologic function, lymphadenopathy or hepatosplenomegaly, and multiorgan failure resulting in death. More variable features may include intermittent monocytosis, features of hemophagocytic lymphohistiocytosis (HLH), and serologic evidence of hyperinflammation. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system (summary by Le Voyer et al., 2021; Vavassori et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794283">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1807106"><div><strong>Anemia, congenital dyserythropoietic, type 1a</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1807106</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.">C5574667</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital dyserythropoietic anemia type I (CDA I) is characterized by moderate-to-severe macrocytic anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth restriction. Some individuals present in childhood or adulthood. After the neonatal period, most affected individuals have lifelong moderate anemia, usually accompanied by jaundice and splenomegaly. Secondary hemochromatosis develops with age as a result of increased iron absorption even in those who are not transfused. Distal limb anomalies occur in 4%-14% of affected individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1807106">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1801596"><div><strong>Congenital dyserythropoietic anemia, type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1801596</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.">C5676874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital dyserythropoietic anemia type IIIa (CDAN3A) is a rare autosomal dominant hematologic disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow. The disorder results from ineffective erythropoiesis. Laboratory studies show evidence of intravascular hemolysis, including increased thymidine kinase, lactate dehydrogenase, and/or undetectable haptoglobin (summary by Lind et al., 1995; Liljeholm et al., 2013). For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see 224120.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1801596">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1802936"><div><strong>Immunodeficiency 97 with autoinflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802936</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.">C5676946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-97 with autoinflammation (IMD97) is an autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH; see FHL1, 267700). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported (summary by Takeda et al., 2019 and Thian et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1802936">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824033"><div><strong>Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824033</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.">C5774260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis-1 (MMCKR1) is an autosomal recessive skeletal muscle disorder characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported. The features remit with rest, but some individuals develop mild proximal or distal muscle weakness. Rare affected individuals may demonstrate cardiac involvement, including left ventricular dysfunction or rhythm abnormalities. Laboratory studies show increased baseline serum creatine kinase levels with episodic spikes that may coincide with rhabdomyolysis. EMG shows myopathic changes, and muscle biopsy shows nonspecific myopathic or degenerative features (Lopes Abath Neto et al., 2021; Salzer-Sheelo et al., 2022). Genetic Heterogeneity of Myopathy with Myalgia, Increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis MMCKR2 (620971) is caused by mutation in the DTNA gene (601239) on chromosome 18q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824033">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847272"><div><strong>Garg-Mishra progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847272</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.">C5882717</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Garg-Mishra progeroid syndrome (GMPGS) is characterized by severe dwarfism, mandibular hypoplasia, microphthalmia, hyperopia, and partial lipodystrophy (summary by Garg et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847272">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1857440"><div><strong>Proteasome-associated autoinflammatory syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857440</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.">C5935614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-6 (PRAAS6) is characterized by a proteasome-associated autoinflammatory syndrome with immunodeficiency (Kanazawa et al., 2021).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1857440">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-hydroxy-3-methylglutaryl-CoA synthase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1807106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia, congenital dyserythropoietic, type 1a</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive osteopetrosis 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carnitine palmitoyl transferase II deficiency, severe infantile form</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162891" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease X-linked recessive 4</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (37)', 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_40266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholesteryl ester storage disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorea-acanthocytosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1615364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital dyserythropoietic anemia type 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1801596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital dyserythropoietic anemia, type III</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constitutional megaloblastic anemia with severe neurologic disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dent disease type 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal myopathy, Tateyama type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gamma-glutamylcysteine synthetase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Garg-Mishra progeroid syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5340" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease, type II</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5342" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease, type VII</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heme oxygenase 1 deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_235598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary intrinsic factor deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">HNSHA due to aldolase A deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 91 and hyperinflammation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1802936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 97 with autoinflammation</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal recessive 5</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lowe syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">McLeod neuroacanthocytosis syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440842" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megaloblastic anemia, folate-responsive</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_368373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mevalonic aciduria</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 7</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoglobinuria, acute recurrent, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766854" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 5A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388129" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poikiloderma with neutropenia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sitosterolemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive 30</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stormorken 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/35701741">Characterization of multiple soluble immune checkpoints in individuals with different Mycobacterium tuberculosis infection status and dynamic changes during anti-tuberculosis treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen H,
|
||
Zhou J,
|
||
Zhao X,
|
||
Liu Q,
|
||
Shao L,
|
||
Zhu Y,
|
||
Ou Q</span><br />
|
||
<span class="medgenPMjournal">BMC Infect Dis</span>
|
||
2022 Jun 14;22(1):543.
|
||
doi: 10.1186/s12879-022-07506-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35701741" target="_blank">35701741</a><a href="/pmc/articles/PMC9192932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33107092">Monitoring treatment response and disease progression in myeloma with circulating cell-free DNA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deshpande S,
|
||
Tytarenko RG,
|
||
Wang Y,
|
||
Boyle EM,
|
||
Ashby C,
|
||
Schinke CD,
|
||
Thanendrarajan S,
|
||
Zangari M,
|
||
Zhan F,
|
||
Davies FE,
|
||
Morgan GJ,
|
||
van Rhee F,
|
||
Walker BA</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2021 Feb;106(2):230-240.
|
||
Epub 2020 Nov 10
|
||
doi: 10.1111/ejh.13541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33107092" target="_blank">33107092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7375820">Folate concentration in top, middle and bottom layer of packed red cells in patients with vitamin B12 deficiency: relation to treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magnus EM</span><br />
|
||
<span class="medgenPMjournal">Scand J Haematol</span>
|
||
1980 Mar;24(3):243-53.
|
||
doi: 10.1111/j.1600-0609.1980.tb01333.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7375820" target="_blank">7375820</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(increased%20circulating%20lactate%20dehydrogenase%20concentration)%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 (3)</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/38290269">Association between serum trace element, mineral, and amino acid levels with non-alcoholic fatty liver disease (NAFLD) in adult women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tinkov AA,
|
||
Korobeinikova TV,
|
||
Morozova GD,
|
||
Aschner M,
|
||
Mak DV,
|
||
Santamaria A,
|
||
Rocha JBT,
|
||
Sotnikova TI,
|
||
Tazina SI,
|
||
Skalny AV</span><br />
|
||
<span class="medgenPMjournal">J Trace Elem Med Biol</span>
|
||
2024 May;83:127397.
|
||
Epub 2024 Jan 16
|
||
doi: 10.1016/j.jtemb.2024.127397.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38290269" target="_blank">38290269</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33107092">Monitoring treatment response and disease progression in myeloma with circulating cell-free DNA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deshpande S,
|
||
Tytarenko RG,
|
||
Wang Y,
|
||
Boyle EM,
|
||
Ashby C,
|
||
Schinke CD,
|
||
Thanendrarajan S,
|
||
Zangari M,
|
||
Zhan F,
|
||
Davies FE,
|
||
Morgan GJ,
|
||
van Rhee F,
|
||
Walker BA</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2021 Feb;106(2):230-240.
|
||
Epub 2020 Nov 10
|
||
doi: 10.1111/ejh.13541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33107092" target="_blank">33107092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33159150">Influence of the ECMO circuit on the concentration of nutritional supplements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindberg BR,
|
||
Videm V,
|
||
Dahl T,
|
||
Sørensen G,
|
||
Fiane AE,
|
||
Thiara AS</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2020 Nov 6;10(1):19275.
|
||
doi: 10.1038/s41598-020-76299-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33159150" target="_blank">33159150</a><a href="/pmc/articles/PMC7648645" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9232552">Diet composition and the performance of high-intensity exercise.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maughan RJ,
|
||
Greenhaff PL,
|
||
Leiper JB,
|
||
Ball D,
|
||
Lambert CP,
|
||
Gleeson M</span><br />
|
||
<span class="medgenPMjournal">J Sports Sci</span>
|
||
1997 Jun;15(3):265-75.
|
||
doi: 10.1080/026404197367272.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9232552" target="_blank">9232552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8428503">Splanchnic lactate production in cardiac surgery patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landow L</span><br />
|
||
<span class="medgenPMjournal">Crit Care Med</span>
|
||
1993 Feb;21(2 Suppl):S84-91.
|
||
doi: 10.1097/00003246-199302001-00015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8428503" target="_blank">8428503</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20circulating%20lactate%20dehydrogenase%20concentration%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 (56)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38290269">Association between serum trace element, mineral, and amino acid levels with non-alcoholic fatty liver disease (NAFLD) in adult women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tinkov AA,
|
||
Korobeinikova TV,
|
||
Morozova GD,
|
||
Aschner M,
|
||
Mak DV,
|
||
Santamaria A,
|
||
Rocha JBT,
|
||
Sotnikova TI,
|
||
Tazina SI,
|
||
Skalny AV</span><br />
|
||
<span class="medgenPMjournal">J Trace Elem Med Biol</span>
|
||
2024 May;83:127397.
|
||
Epub 2024 Jan 16
|
||
doi: 10.1016/j.jtemb.2024.127397.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38290269" target="_blank">38290269</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36126527">Coffee consumption has no effect on circulating markers of liver function but increases adiponectin concentrations: A systematic review and meta-analysis of randomized controlled trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linden-Torres E,
|
||
Zambrano-Galván G,
|
||
Sahebkar A,
|
||
Ríos-Mier M,
|
||
Simental-Mendía LE</span><br />
|
||
<span class="medgenPMjournal">Nutr Res</span>
|
||
2022 Oct;106:24-34.
|
||
Epub 2022 Aug 5
|
||
doi: 10.1016/j.nutres.2022.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36126527" target="_blank">36126527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33107092">Monitoring treatment response and disease progression in myeloma with circulating cell-free DNA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deshpande S,
|
||
Tytarenko RG,
|
||
Wang Y,
|
||
Boyle EM,
|
||
Ashby C,
|
||
Schinke CD,
|
||
Thanendrarajan S,
|
||
Zangari M,
|
||
Zhan F,
|
||
Davies FE,
|
||
Morgan GJ,
|
||
van Rhee F,
|
||
Walker BA</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2021 Feb;106(2):230-240.
|
||
Epub 2020 Nov 10
|
||
doi: 10.1111/ejh.13541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33107092" target="_blank">33107092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29687772">Matrix Metalloproteinase-2 and -9, Lactate, and Malate Dehydrogenase and Lipid Peroxides in Sera of Patients with Colorectal Carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gopcevic K,
|
||
Rovcanin B,
|
||
Kekic D,
|
||
Krivokapic Z,
|
||
Dragutinovic V</span><br />
|
||
<span class="medgenPMjournal">Folia Biol (Praha)</span>
|
||
2017;63(5-6):190-196.
|
||
doi: 10.14712/fb2017063050190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29687772" target="_blank">29687772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8379904">Control of glycaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gerich JE</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Endocrinol Metab</span>
|
||
1993 Jul;7(3):551-86.
|
||
doi: 10.1016/s0950-351x(05)80207-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8379904" target="_blank">8379904</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20circulating%20lactate%20dehydrogenase%20concentration%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 (23)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36126527">Coffee consumption has no effect on circulating markers of liver function but increases adiponectin concentrations: A systematic review and meta-analysis of randomized controlled trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linden-Torres E,
|
||
Zambrano-Galván G,
|
||
Sahebkar A,
|
||
Ríos-Mier M,
|
||
Simental-Mendía LE</span><br />
|
||
<span class="medgenPMjournal">Nutr Res</span>
|
||
2022 Oct;106:24-34.
|
||
Epub 2022 Aug 5
|
||
doi: 10.1016/j.nutres.2022.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36126527" target="_blank">36126527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24916505">Elevated cerebral lactate: Implications in the pathogenesis of hepatic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bosoi CR,
|
||
Rose CF</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2014 Dec;29(4):919-25.
|
||
Epub 2014 Jun 11
|
||
doi: 10.1007/s11011-014-9573-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24916505" target="_blank">24916505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20395414">Pulmonary hypertension and nitric oxide depletion in sickle cell disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bunn HF,
|
||
Nathan DG,
|
||
Dover GJ,
|
||
Hebbel RP,
|
||
Platt OS,
|
||
Rosse WF,
|
||
Ware RE</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2010 Aug 5;116(5):687-92.
|
||
Epub 2010 Apr 15
|
||
doi: 10.1182/blood-2010-02-268193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20395414" target="_blank">20395414</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9232552">Diet composition and the performance of high-intensity exercise.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maughan RJ,
|
||
Greenhaff PL,
|
||
Leiper JB,
|
||
Ball D,
|
||
Lambert CP,
|
||
Gleeson M</span><br />
|
||
<span class="medgenPMjournal">J Sports Sci</span>
|
||
1997 Jun;15(3):265-75.
|
||
doi: 10.1080/026404197367272.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9232552" target="_blank">9232552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1600837">Dichloroacetate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stacpoole PW,
|
||
Greene YJ</span><br />
|
||
<span class="medgenPMjournal">Diabetes Care</span>
|
||
1992 Jun;15(6):785-91.
|
||
doi: 10.2337/diacare.15.6.785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1600837" target="_blank">1600837</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20circulating%20lactate%20dehydrogenase%20concentration%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 (40)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39850900">HMGB1 lactylation drives neutrophil extracellular trap formation in lactate-induced acute kidney injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu L,
|
||
Zheng Q,
|
||
Liu X,
|
||
Ding H,
|
||
Ma M,
|
||
Bao J,
|
||
Cai Y,
|
||
Cao C</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1475543.
|
||
Epub 2025 Jan 9
|
||
doi: 10.3389/fimmu.2024.1475543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39850900" target="_blank">39850900</a><a href="/pmc/articles/PMC11754054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35313387">Prognostic value of serum/plasma neurofilament light chain for COVID-19-associated mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masvekar RR,
|
||
Kosa P,
|
||
Jin K,
|
||
Dobbs K,
|
||
Stack MA,
|
||
Castagnoli R,
|
||
Quaresima V,
|
||
Su HC,
|
||
Imberti L,
|
||
Notarangelo LD,
|
||
Bielekova B</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2022 May;9(5):622-632.
|
||
Epub 2022 Mar 21
|
||
doi: 10.1002/acn3.51542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35313387" target="_blank">35313387</a><a href="/pmc/articles/PMC9082006" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33107092">Monitoring treatment response and disease progression in myeloma with circulating cell-free DNA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deshpande S,
|
||
Tytarenko RG,
|
||
Wang Y,
|
||
Boyle EM,
|
||
Ashby C,
|
||
Schinke CD,
|
||
Thanendrarajan S,
|
||
Zangari M,
|
||
Zhan F,
|
||
Davies FE,
|
||
Morgan GJ,
|
||
van Rhee F,
|
||
Walker BA</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2021 Feb;106(2):230-240.
|
||
Epub 2020 Nov 10
|
||
doi: 10.1111/ejh.13541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33107092" target="_blank">33107092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26278102">Changes in Conjunctival Hemodynamics Predict Albuminuria in Sickle Cell Nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kord Valeshabad A,
|
||
Wanek J,
|
||
Saraf SL,
|
||
Gaynes BI,
|
||
Gordeuk VR,
|
||
Molokie RE,
|
||
Shahidi M</span><br />
|
||
<span class="medgenPMjournal">Am J Nephrol</span>
|
||
2015;41(6):487-93.
|
||
Epub 2015 Aug 5
|
||
doi: 10.1159/000438678.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26278102" target="_blank">26278102</a><a href="/pmc/articles/PMC4561023" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22216763">Predictive and prognostic value of circulating nucleosomes and serum biomarkers in patients with metastasized colorectal cancer undergoing Selective Internal Radiation Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fahmueller YN,
|
||
Nagel D,
|
||
Hoffmann RT,
|
||
Tatsch K,
|
||
Jakobs T,
|
||
Stieber P,
|
||
Holdenrieder S</span><br />
|
||
<span class="medgenPMjournal">BMC Cancer</span>
|
||
2012 Jan 4;12:5.
|
||
doi: 10.1186/1471-2407-12-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22216763" target="_blank">22216763</a><a href="/pmc/articles/PMC3292480" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20circulating%20lactate%20dehydrogenase%20concentration%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 (27)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38225613">Clinical characteristics and outcomes among critically ill patients with cancer and COVID-19-related acute respiratory failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao YT,
|
||
Shen HC,
|
||
Huang JR,
|
||
Sun CY,
|
||
Ko HJ,
|
||
Chang CJ,
|
||
Chen YM,
|
||
Feng JY,
|
||
Chen WC,
|
||
Yang KY</span><br />
|
||
<span class="medgenPMjournal">BMC Pulm Med</span>
|
||
2024 Jan 15;24(1):34.
|
||
doi: 10.1186/s12890-024-02850-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38225613" target="_blank">38225613</a><a href="/pmc/articles/PMC10789018" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37132364">Mutation profiling, tumour burden assessment, outcome prediction and disease monitoring by circulating tumour DNA in peripheral T-cell lymphoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei C,
|
||
Wang W,
|
||
Zhang Y,
|
||
Zhao D,
|
||
Zhang W,
|
||
Zhou D</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2023 Jul;202(1):86-95.
|
||
Epub 2023 May 3
|
||
doi: 10.1111/bjh.18824.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37132364" target="_blank">37132364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35313387">Prognostic value of serum/plasma neurofilament light chain for COVID-19-associated mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masvekar RR,
|
||
Kosa P,
|
||
Jin K,
|
||
Dobbs K,
|
||
Stack MA,
|
||
Castagnoli R,
|
||
Quaresima V,
|
||
Su HC,
|
||
Imberti L,
|
||
Notarangelo LD,
|
||
Bielekova B</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2022 May;9(5):622-632.
|
||
Epub 2022 Mar 21
|
||
doi: 10.1002/acn3.51542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35313387" target="_blank">35313387</a><a href="/pmc/articles/PMC9082006" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24916505">Elevated cerebral lactate: Implications in the pathogenesis of hepatic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bosoi CR,
|
||
Rose CF</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2014 Dec;29(4):919-25.
|
||
Epub 2014 Jun 11
|
||
doi: 10.1007/s11011-014-9573-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24916505" target="_blank">24916505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9232552">Diet composition and the performance of high-intensity exercise.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maughan RJ,
|
||
Greenhaff PL,
|
||
Leiper JB,
|
||
Ball D,
|
||
Lambert CP,
|
||
Gleeson M</span><br />
|
||
<span class="medgenPMjournal">J Sports Sci</span>
|
||
1997 Jun;15(3):265-75.
|
||
doi: 10.1080/026404197367272.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9232552" target="_blank">9232552</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20circulating%20lactate%20dehydrogenase%20concentration%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 (47)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/36126527">Coffee consumption has no effect on circulating markers of liver function but increases adiponectin concentrations: A systematic review and meta-analysis of randomized controlled trials.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Linden-Torres E,
|
||
Zambrano-Galván G,
|
||
Sahebkar A,
|
||
Ríos-Mier M,
|
||
Simental-Mendía LE</span><br />
|
||
<span class="medgenPMjournal">Nutr Res</span>
|
||
2022 Oct;106:24-34.
|
||
Epub 2022 Aug 5
|
||
doi: 10.1016/j.nutres.2022.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36126527" target="_blank">36126527</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20circulating%20lactate%20dehydrogenase%20concentration%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 (1)</a></div></div>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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||
</li>
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||
<li>
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||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
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||
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