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<!--
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||
UID=65916
|
||
ConceptID=C0235971
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Elevated circulating alpha-fetoprotein concentration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65916</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.">C0235971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Elevated alpha-fetoprotein</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0006254">HP:0006254</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Elevated circulating alpha-fetoprotein concentration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/233128" ref="tree=MeSH" title="MedGen record for Abnormal Blood Chemistry and Hematology Test Result">Abnormal Blood Chemistry and Hematology Test Result</a></span><ul><li><span class="matched_ds">Elevated circulating alpha-fetoprotein concentration</span><ul><li><span class="TLline"><a href="/medgen/333423" ref="tree=MeSH" title="MedGen record for Elevated amniotic fluid alpha-fetoprotein">Elevated amniotic fluid alpha-fetoprotein</a></span></li></ul></li></ul></li></ul></div></div></div></div>
|
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<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>
|
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_439"><div><strong>Ataxia-telangiectasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>439</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.">C0004135</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of ataxia-telangiectasia (A-T), a multisystem disorder, is a continuum ranging from classic A-T at the severe end and variant A-T at the milder end. Nonetheless, distinguishing between classic A-T and variant A-T on this spectrum helps understand differences in disease course, rate of progression, and life expectancy. Classic A-T is characterized by childhood onset of progressive neurologic manifestations (initially cerebellar ataxia, followed typically by extrapyramidal involvement and peripheral sensorimotor neuropathy), immunodeficiency (variably associated with abnormalities of humoral immunity, cellular immunity, or combined immune deficiency), pulmonary disease (resulting from recurrent infections, immune deficiency, aspiration, interstitial lung disease, and neurologic abnormalities), and increased risk of malignancy. Although it is generally accepted that intellectual disability is not common in A-T, disturbances in cerebellar as well as non-cerebellar brain areas and networks may result in cognitive deficits. Increased sensitivity to ionizing radiation (x-ray and gamma ray) can result in severe side effects from such treatments. Life expectancy is significantly reduced due to cancer, pulmonary disease, and infections. Variant A-T has a significantly milder disease course. While cerebellar ataxia can be absent, extrapyramidal movement disorders are common (typically dystonia and dystonic tremor) and most individuals have manifestations of axonal sensorimotor polyneuropathy. In contrast to classic A-T, immune function is generally normal, respiratory infections are not increased, and pulmonary disease is not a major feature. However, risk of developing malignancies is increased, particularly in premenopausal females who have an increased risk of developing breast cancer and hematologic malignancies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/439">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75688"><div><strong>Tyrosinemia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75688</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.">C0268490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75688">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162911"><div><strong>Primrose syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162911</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.">C0796121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162911">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_277809"><div><strong>Germ cell tumor of testis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>277809</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.">C1336708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). Genetic Heterogeneity of Testicular Germ Cell Tumors A locus for testicular germ cell tumors (TGCT1; 300228) has been identified on chromosome Xq27.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/277809">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340052"><div><strong>Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340052</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1853761</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340052">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349670"><div><strong>Alpha-fetoprotein, hereditary persistence of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349670</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.">C1863080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary persistence of alpha-fetoprotein (HPAFP) is a clinically benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life (summary by McVey et al., 1993).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349670">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442699"><div><strong>Polycystic kidney disease 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442699</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.">C2751306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442699">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767604"><div><strong>Ataxia with oculomotor apraxia type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767604</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.">C3554690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life (Al Tassan et al., 2012). For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767604">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902323"><div><strong>Ataxia - oculomotor apraxia type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902323</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.">C4225397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ataxia-oculomotor apraxia-4 (AOA4) is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015). For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902323">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934619"><div><strong>Fanconi anemia complementation group V</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934619</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.">C4310652</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934619">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934714"><div><strong>Cholestasis, progressive familial intrahepatic, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934714</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.">C4310747</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934714">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645614"><div><strong>Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645614</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.">C4706421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-12 (COXPD12) is an autosomal recessive mitochondrial neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability (summary by Steenweg et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645614">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1682503"><div><strong>Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682503</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.">C5191055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated transaminases) and neurologic manifestations (hypotonia, nystagmus, and developmental delay) evident within weeks of birth. Those with isolated liver disease may also have renal involvement, and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1682503">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794255"><div><strong>Cholestasis, progressive familial intrahepatic, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794255</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.">C5562045</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive familial intrahepatic cholestasis-8 (PFIC8) is an autosomal recessive disorder characterized by cholestasis and high gamma-glutamyltransferase presenting in the infantile period (summary by Unlusoy Aksu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794255">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823968"><div><strong>Liver disease, severe congenital</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823968</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.">C5774195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823968">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1848998"><div><strong>Amegakaryocytic thrombocytopenia, congenital, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848998</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.">C5882679</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital amegakaryocytic thrombocytopenia-2 (CAMT2) is an autosomal recessive disorder characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure. Serum THPO is decreased or inappropriately normal, and bone marrow is hypocellular with decreased or absent megakaryocytes. Most patients present in infancy or early childhood and have a severe disease course, whereas some have later onset and milder symptoms. Bone marrow transplant is ineffective because the defect is extrinsic to hematopoietic cells. Treatment with THPO receptor (MPL; 159530) agonists results in clinical improvement and restoration of trilineage hematopoiesis (Dasouki et al., 2013; Seo et al., 2017). For a discussion of genetic heterogeneity of CAMT, see CAMT1 (604498).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1848998">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_989503"><div><strong>Congenital disorder of deglycosylation 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989503</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN306977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989503">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alpha-fetoprotein, hereditary persistence of</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amegakaryocytic thrombocytopenia, congenital, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902323" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia - oculomotor apraxia type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia with oculomotor apraxia type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-telangiectasia syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934714" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis, progressive familial intrahepatic, 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis, progressive familial intrahepatic, 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_989503" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of deglycosylation 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group V</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_277809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Germ cell tumor of testis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645614" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver disease, severe congenital</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682503" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442699" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic kidney disease 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primrose syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinemia type I</a></div></span></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/18936438">Human chorionic gonadotropin and alpha-fetoprotein concentrations in pregnancy and maternal risk of breast cancer: a nested case-control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lukanova A,
|
||
Andersson R,
|
||
Wulff M,
|
||
Zeleniuch-Jacquotte A,
|
||
Grankvist K,
|
||
Dossus L,
|
||
Afanasyeva Y,
|
||
Johansson R,
|
||
Arslan AA,
|
||
Lenner P,
|
||
Wadell G,
|
||
Hallmans G,
|
||
Toniolo P,
|
||
Lundin E</span><br />
|
||
<span class="medgenPMjournal">Am J Epidemiol</span>
|
||
2008 Dec 1;168(11):1284-91.
|
||
Epub 2008 Oct 20
|
||
doi: 10.1093/aje/kwn254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18936438" target="_blank">18936438</a><a href="/pmc/articles/PMC2587527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7684823">Early recognition of hepatocellular carcinoma based on altered profiles of alpha-fetoprotein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sato Y,
|
||
Nakata K,
|
||
Kato Y,
|
||
Shima M,
|
||
Ishii N,
|
||
Koji T,
|
||
Taketa K,
|
||
Endo Y,
|
||
Nagataki S</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1993 Jun 24;328(25):1802-6.
|
||
doi: 10.1056/NEJM199306243282502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7684823" target="_blank">7684823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1692399">Evaluation of elevations in maternal serum alpha-fetoprotein: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas RL,
|
||
Blakemore KJ</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Surv</span>
|
||
1990 May;45(5):269-83.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1692399" target="_blank">1692399</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6188527">Determination of circulating DNA levels in patients with benign or malignant gastrointestinal disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro B,
|
||
Chakrabarty M,
|
||
Cohn EM,
|
||
Leon SA</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
1983 Jun 1;51(11):2116-20.
|
||
doi: 10.1002/1097-0142(19830601)51:11<2116::aid-cncr2820511127>3.0.co;2-s.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6188527" target="_blank">6188527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6160719">Changes in serum hormone levels during labor induced by oral PGE2 or oxytocin infusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bremme K,
|
||
Eneroth P</span><br />
|
||
<span class="medgenPMjournal">Acta Obstet Gynecol Scand Suppl</span>
|
||
1980;92:31-43.
|
||
doi: 10.3109/00016348009156935.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6160719" target="_blank">6160719</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20circulating%20alpha-fetoprotein%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27542005">Standardization of tumor markers - priorities identified through external quality assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sturgeon C</span><br />
|
||
<span class="medgenPMjournal">Scand J Clin Lab Invest Suppl</span>
|
||
2016;245:S94-9.
|
||
doi: 10.1080/00365513.2016.1210334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27542005" target="_blank">27542005</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24120489">Alpha-fetoprotein, a fascinating protein and biomarker in neurology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schieving JH,
|
||
de Vries M,
|
||
van Vugt JM,
|
||
Weemaes C,
|
||
van Deuren M,
|
||
Nicolai J,
|
||
Wevers RA,
|
||
Willemsen MA</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2014 May;18(3):243-8.
|
||
Epub 2013 Sep 29
|
||
doi: 10.1016/j.ejpn.2013.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24120489" target="_blank">24120489</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18936438">Human chorionic gonadotropin and alpha-fetoprotein concentrations in pregnancy and maternal risk of breast cancer: a nested case-control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lukanova A,
|
||
Andersson R,
|
||
Wulff M,
|
||
Zeleniuch-Jacquotte A,
|
||
Grankvist K,
|
||
Dossus L,
|
||
Afanasyeva Y,
|
||
Johansson R,
|
||
Arslan AA,
|
||
Lenner P,
|
||
Wadell G,
|
||
Hallmans G,
|
||
Toniolo P,
|
||
Lundin E</span><br />
|
||
<span class="medgenPMjournal">Am J Epidemiol</span>
|
||
2008 Dec 1;168(11):1284-91.
|
||
Epub 2008 Oct 20
|
||
doi: 10.1093/aje/kwn254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18936438" target="_blank">18936438</a><a href="/pmc/articles/PMC2587527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10648091">Spontaneous regression of a large hepatocellular carcinoma with portal vein tumor thrombi: report of a case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uenishi T,
|
||
Hirohashi K,
|
||
Tanaka H,
|
||
Ikebe T,
|
||
Kinoshita H</span><br />
|
||
<span class="medgenPMjournal">Surg Today</span>
|
||
2000;30(1):82-5.
|
||
doi: 10.1007/PL00010054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10648091" target="_blank">10648091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1692399">Evaluation of elevations in maternal serum alpha-fetoprotein: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas RL,
|
||
Blakemore KJ</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Surv</span>
|
||
1990 May;45(5):269-83.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1692399" target="_blank">1692399</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20circulating%20alpha-fetoprotein%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 (12)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/8527525">Aberrant hormone balance in fetal autoimmune NZB/W mice following prenatal exposure to testosterone excess or the androgen blocker flutamide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keisler LW,
|
||
vom Saal FS,
|
||
Keisler DH,
|
||
Rudeen PK,
|
||
Walker SE</span><br />
|
||
<span class="medgenPMjournal">Biol Reprod</span>
|
||
1995 Nov;53(5):1190-7.
|
||
doi: 10.1095/biolreprod53.5.1190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8527525" target="_blank">8527525</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6160719">Changes in serum hormone levels during labor induced by oral PGE2 or oxytocin infusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bremme K,
|
||
Eneroth P</span><br />
|
||
<span class="medgenPMjournal">Acta Obstet Gynecol Scand Suppl</span>
|
||
1980;92:31-43.
|
||
doi: 10.3109/00016348009156935.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6160719" target="_blank">6160719</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20circulating%20alpha-fetoprotein%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27542005">Standardization of tumor markers - priorities identified through external quality assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sturgeon C</span><br />
|
||
<span class="medgenPMjournal">Scand J Clin Lab Invest Suppl</span>
|
||
2016;245:S94-9.
|
||
doi: 10.1080/00365513.2016.1210334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27542005" target="_blank">27542005</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17700260">Elevation of endoglin (CD105) concentrations in serum of patients with liver cirrhosis and carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yagmur E,
|
||
Rizk M,
|
||
Stanzel S,
|
||
Hellerbrand C,
|
||
Lammert F,
|
||
Trautwein C,
|
||
Wasmuth HE,
|
||
Gressner AM</span><br />
|
||
<span class="medgenPMjournal">Eur J Gastroenterol Hepatol</span>
|
||
2007 Sep;19(9):755-61.
|
||
doi: 10.1097/MEG.0b013e3282202bea.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17700260" target="_blank">17700260</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7684823">Early recognition of hepatocellular carcinoma based on altered profiles of alpha-fetoprotein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sato Y,
|
||
Nakata K,
|
||
Kato Y,
|
||
Shima M,
|
||
Ishii N,
|
||
Koji T,
|
||
Taketa K,
|
||
Endo Y,
|
||
Nagataki S</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1993 Jun 24;328(25):1802-6.
|
||
doi: 10.1056/NEJM199306243282502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7684823" target="_blank">7684823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6188527">Determination of circulating DNA levels in patients with benign or malignant gastrointestinal disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro B,
|
||
Chakrabarty M,
|
||
Cohn EM,
|
||
Leon SA</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
1983 Jun 1;51(11):2116-20.
|
||
doi: 10.1002/1097-0142(19830601)51:11<2116::aid-cncr2820511127>3.0.co;2-s.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6188527" target="_blank">6188527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6160719">Changes in serum hormone levels during labor induced by oral PGE2 or oxytocin infusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bremme K,
|
||
Eneroth P</span><br />
|
||
<span class="medgenPMjournal">Acta Obstet Gynecol Scand Suppl</span>
|
||
1980;92:31-43.
|
||
doi: 10.3109/00016348009156935.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6160719" target="_blank">6160719</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20circulating%20alpha-fetoprotein%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27542005">Standardization of tumor markers - priorities identified through external quality assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sturgeon C</span><br />
|
||
<span class="medgenPMjournal">Scand J Clin Lab Invest Suppl</span>
|
||
2016;245:S94-9.
|
||
doi: 10.1080/00365513.2016.1210334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27542005" target="_blank">27542005</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18936438">Human chorionic gonadotropin and alpha-fetoprotein concentrations in pregnancy and maternal risk of breast cancer: a nested case-control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lukanova A,
|
||
Andersson R,
|
||
Wulff M,
|
||
Zeleniuch-Jacquotte A,
|
||
Grankvist K,
|
||
Dossus L,
|
||
Afanasyeva Y,
|
||
Johansson R,
|
||
Arslan AA,
|
||
Lenner P,
|
||
Wadell G,
|
||
Hallmans G,
|
||
Toniolo P,
|
||
Lundin E</span><br />
|
||
<span class="medgenPMjournal">Am J Epidemiol</span>
|
||
2008 Dec 1;168(11):1284-91.
|
||
Epub 2008 Oct 20
|
||
doi: 10.1093/aje/kwn254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18936438" target="_blank">18936438</a><a href="/pmc/articles/PMC2587527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17700260">Elevation of endoglin (CD105) concentrations in serum of patients with liver cirrhosis and carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yagmur E,
|
||
Rizk M,
|
||
Stanzel S,
|
||
Hellerbrand C,
|
||
Lammert F,
|
||
Trautwein C,
|
||
Wasmuth HE,
|
||
Gressner AM</span><br />
|
||
<span class="medgenPMjournal">Eur J Gastroenterol Hepatol</span>
|
||
2007 Sep;19(9):755-61.
|
||
doi: 10.1097/MEG.0b013e3282202bea.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17700260" target="_blank">17700260</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8295494">Hypercalcemia and parathyroid hormone-related protein in hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yen TC,
|
||
Hwang SJ,
|
||
Wang CC,
|
||
Lee SD,
|
||
Yeh SH</span><br />
|
||
<span class="medgenPMjournal">Liver</span>
|
||
1993 Dec;13(6):311-5.
|
||
doi: 10.1111/j.1600-0676.1993.tb00651.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8295494" target="_blank">8295494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7684823">Early recognition of hepatocellular carcinoma based on altered profiles of alpha-fetoprotein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sato Y,
|
||
Nakata K,
|
||
Kato Y,
|
||
Shima M,
|
||
Ishii N,
|
||
Koji T,
|
||
Taketa K,
|
||
Endo Y,
|
||
Nagataki S</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1993 Jun 24;328(25):1802-6.
|
||
doi: 10.1056/NEJM199306243282502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7684823" target="_blank">7684823</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20circulating%20alpha-fetoprotein%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 (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
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|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Elevated%20circulating%20alpha-fetoprotein%20concentration" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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||
</div>
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Elevated%20circulating%20alpha-fetoprotein%20concentration%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Elevated%20circulating%20alpha-fetoprotein%20concentration" target="_blank">MedlinePlus</a></li></ul></div>
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<div class="portlet brieflink">
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<div class="portlet_head">
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<h3>Reviews</h3>
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<ul>
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<li>
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<a href="/pubmed/clinical?term=Elevated%20circulating%20alpha-fetoprotein%20concentration" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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</li>
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<li>
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<a href="/pubmed?term=Elevated%20circulating%20alpha-fetoprotein%20concentration%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=65916" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=65916" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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||
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