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<meta name="keywords" content="C4551500, amyld3, amyloid polyneuropathy, iowa type, amyloid polyneuropathy-nephropathy, iowa type, amyloidosis, hereditary systemic 3, amyloidosis, iowa type, amyloidosis, type iii, amyloidosis, type iv, amyloidosis, van allen type, apoa1, disease or syndrome, familial amyloid polyneuropathy type iii, familial amyloid polyneuropathy, iowa type, familial amyloid polyneuropathy, type iii, iowa type amyloid polyneuropathy, iowa type amyloidosis, type iii familial amyloid polyneuropathy, van allen type amyloid polyneuropathy, van allen type amyloidosis, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Hereditary amyloidosis is an autosomal dominant disorder in which amyloid deposition occurs in various tissues. Hereditary systemic amyloidosis-3 (AMYLD3) is characterized by a wide clinical spectrum including amyloid neuropathy, nephropathy, hepatopathy, and cardiomyopathy. Amyloid deposition can also occur in skin, larynx (resulting in hoarseness), and testis (resulting in infertility) (summary by Hamidi Asl et al., 1999, Lachmann et al., 2002). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1635231
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ConceptID=C4551500
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Familial amyloid polyneuropathy, Iowa type<span class="h1sub">(AMYLD3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635231</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.">C4551500</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>AMYLD3; Amyloid polyneuropathy-nephropathy, Iowa type; AMYLOIDOSIS, HEREDITARY SYSTEMIC 3; AMYLOIDOSIS, IOWA TYPE; AMYLOIDOSIS, TYPE III; AMYLOIDOSIS, TYPE IV; AMYLOIDOSIS, VAN ALLEN TYPE; Familial amyloid polyneuropathy type III</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial amyloid polyneuropathy type III (9133005); Van Allen type amyloid polyneuropathy (9133005); Iowa type amyloid polyneuropathy (9133005); Familial amyloid polyneuropathy, Iowa type (9133005); Iowa type amyloidosis (9133005); van Allen type amyloidosis (9133005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="APOA1 - ID: 335 - NCBI Gene" href="/gene/335" class="medgenPMinfo">APOA1</a> (11q23.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0971008" target="_blank">MONDO:0971008</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620657" target="_blank">620657</a></td></tr>
|
||
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Hereditary amyloidosis is an autosomal dominant disorder in which amyloid deposition occurs in various tissues. Hereditary systemic amyloidosis-3 (AMYLD3) is characterized by a wide clinical spectrum including amyloid neuropathy, nephropathy, hepatopathy, and cardiomyopathy. Amyloid deposition can also occur in skin, larynx (resulting in hoarseness), and testis (resulting in infertility) (summary by Hamidi Asl et al., 1999, Lachmann et al., 2002). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_43876"><div><strong>Infertility disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43876</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.">C0021359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43876">Feature record</a> | <a href="/medgen?term=%22Infertility%20disorder%22%5BClinical%20Features%5D%20OR%2043876%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65997"><div><strong>Microscopic hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65997</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.">C0239937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microscopic hematuria detected by dipstick or microscopic examination of the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65997">Feature record</a> | <a href="/medgen?term=%22Microscopic%20hematuria%22%5BClinical%20Features%5D%20OR%2065997%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120633"><div><strong>Renal amyloidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120633</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.">C0268382</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120633">Feature record</a> | <a href="/medgen?term=%22Renal%20amyloidosis%22%5BClinical%20Features%5D%20OR%20120633%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_384526"><div><strong>Stage 5 chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384526</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.">C2316810</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384526">Feature record</a> | <a href="/medgen?term=%22Stage%205%20chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20384526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5459"><div><strong>Cardiomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5459</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.">C0018800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5459">Feature record</a> | <a href="/medgen?term=%22Cardiomegaly%22%5BClinical%20Features%5D%20OR%205459%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9169"><div><strong>Congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9169</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.">C0018802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9169">Feature record</a> | <a href="/medgen?term=%22Congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%209169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_209232"><div><strong>Cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0878544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209232">Feature record</a> | <a href="/medgen?term=%22Cardiomyopathy%22%5BClinical%20Features%5D%20OR%20209232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1386760"><div><strong>Dilatation of the cerebral artery</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1386760</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.">C4476540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a localized dilatation or ballooning of a cerebral artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1386760">Feature record</a> | <a href="/medgen?term=%22Dilatation%20of%20the%20cerebral%20artery%22%5BClinical%20Features%5D%20OR%201386760%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</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.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88444"><div><strong>Liver failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88444</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.">C0085605</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88444">Feature record</a> | <a href="/medgen?term=%22Liver%20failure%22%5BClinical%20Features%5D%20OR%2088444%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75642"><div><strong>Hepatic amyloidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75642</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.">C0267839</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of amyloidosis that affects the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75642">Feature record</a> | <a href="/medgen?term=%22Hepatic%20amyloidosis%22%5BClinical%20Features%5D%20OR%2075642%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3938"><div><strong>Dyspnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3938</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.">C0013404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3938">Feature record</a> | <a href="/medgen?term=%22Dyspnea%22%5BClinical%20Features%5D%20OR%203938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_272"><div><strong>Amyloidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>272</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.">C0002726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/272">Feature record</a> | <a href="/medgen?term=%22Amyloidosis%22%5BClinical%20Features%5D%20OR%20272%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57731"><div><strong>Decreased HDL cholesterol concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57731</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.">C0151691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An decreased concentration of high-density lipoprotein cholesterol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57731">Feature record</a> | <a href="/medgen?term=%22Decreased%20HDL%20cholesterol%20concentration%22%5BClinical%20Features%5D%20OR%2057731%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75676"><div><strong>Conjunctival amyloidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75676</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.">C0268402</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of amyloidosis that affects the conjunctiva.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75676">Feature record</a> | <a href="/medgen?term=%22Conjunctival%20amyloidosis%22%5BClinical%20Features%5D%20OR%2075676%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488730"><div><strong>Cardiac amyloidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488730</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.">C0268407</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488730">Feature record</a> | <a href="/medgen?term=%22Cardiac%20amyloidosis%22%5BClinical%20Features%5D%20OR%20488730%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_727252"><div><strong>Elevated circulating alkaline phosphatase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>727252</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.">C1314665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased serum levels of alkaline phosphatase activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/727252">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alkaline%20phosphatase%20concentration%22%5BClinical%20Features%5D%20OR%20727252%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_354872"><div><strong>Generalized amyloid deposition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354872</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.">C1862968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A diffuse form of amyloidosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354872">Feature record</a> | <a href="/medgen?term=%22Generalized%20amyloid%20deposition%22%5BClinical%20Features%5D%20OR%20354872%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1634454"><div><strong>Decreased circulating apolipoprotein A-I concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634454</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.">C4703545</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634454">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20apolipoprotein%20A-I%20concentration%22%5BClinical%20Features%5D%20OR%201634454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1830283"><div><strong>Cutaneous amyloidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830283</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.">C5779562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of amyloid deposition in the superficial dermis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830283">Feature record</a> | <a href="/medgen?term=%22Cutaneous%20amyloidosis%22%5BClinical%20Features%5D%20OR%201830283%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5602"><div><strong>Hoarse voice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5602</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.">C0019825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5602">Feature record</a> | <a href="/medgen?term=%22Hoarse%20voice%22%5BClinical%20Features%5D%20OR%205602%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_54"><div><strong>Acanthosis nigricans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>54</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.">C0000889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/54">Feature record</a> | <a href="/medgen?term=%22Acanthosis%20nigricans%22%5BClinical%20Features%5D%20OR%2054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140849"><div><strong>Bruising susceptibility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140849</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.">C0423798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140849">Feature record</a> | <a href="/medgen?term=%22Bruising%20susceptibility%22%5BClinical%20Features%5D%20OR%20140849%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyloidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac amyloidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conjunctival amyloidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1830283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous amyloidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1634454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating apolipoprotein A-I concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57731" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased HDL cholesterol concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_727252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alkaline phosphatase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_354872" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized amyloid deposition</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congestive heart failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1386760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilatation of the cerebral artery</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic amyloidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver failure</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infertility disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65997" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microscopic hematuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120633" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal amyloidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stage 5 chronic kidney disease</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_54" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acanthosis nigricans</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruising susceptibility</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyspnea</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5602" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hoarse voice</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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="TLclosed"><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"><a href="/medgen/888981" ref="tree=GTR&ncbi_uid=888981&link_uid=888981" title="View MedGen record for 'Amyloidosis, hereditary systemic'">Amyloidosis, hereditary systemic</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751492[DISCUI]&test_type=Clinical" ref="ncbi_uid=414031">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414031" target="_blank" href="/omim/105210">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1194/" ref="ncbi_uid=414031">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414031" ref="ncbi_uid=414031">V</a></span></span><span class="TLline"><a href="/medgen/414031" ref="tree=GTR&ncbi_uid=414031&link_uid=414031" title="View MedGen record for 'Amyloidosis, hereditary systemic 1'">Amyloidosis, hereditary systemic 1</a></span></li><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=1859086" target="_blank" href="/omim/153450">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1859086" ref="ncbi_uid=1859086">V</a></span></span><span class="TLline"><a href="/medgen/1859086" ref="tree=GTR&ncbi_uid=1859086&link_uid=1859086" title="View MedGen record for 'Amyloidosis, hereditary systemic 5'">Amyloidosis, hereditary systemic 5</a></span></li><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=1860723" target="_blank" href="/omim/109700">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1860723" ref="ncbi_uid=1860723">V</a></span></span><span class="TLline"><a href="/medgen/1860723" ref="tree=GTR&ncbi_uid=1860723&link_uid=1860723" title="View MedGen record for 'Amyloidosis, hereditary systemic 6'">Amyloidosis, hereditary systemic 6</a></span></li><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 Ocolor" title="OMIM"><a ref="ncbi_uid=1635231" target="_blank" href="/omim/107680">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1635231" ref="ncbi_uid=1635231">V</a></span></span><span class="TLline">Familial amyloid polyneuropathy, Iowa type</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268389[DISCUI]&test_type=Clinical" ref="ncbi_uid=82799">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82799" target="_blank" href="/omim/105200">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82799" ref="ncbi_uid=82799">V</a></span></span><span class="TLline"><a href="/medgen/82799" ref="tree=GTR&ncbi_uid=82799&link_uid=82799" title="View MedGen record for 'Familial visceral amyloidosis, Ostertag type'">Familial visceral amyloidosis, Ostertag type</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1622345[DISCUI]&test_type=Clinical" ref="ncbi_uid=301243">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=301243" target="_blank" href="/omim/105120">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=301243" ref="ncbi_uid=301243">V</a></span></span><span class="TLline"><a href="/medgen/301243" ref="tree=GTR&ncbi_uid=301243&link_uid=301243" title="View MedGen record for 'Finnish type amyloidosis'">Finnish type amyloidosis</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/888981" ref="tree=MeSH" title="MedGen record for Amyloidosis, hereditary systemic">Amyloidosis, hereditary systemic</a></span><ul><li><span class="matched_ds">Familial amyloid polyneuropathy, Iowa type</span></li></ul></li></ul></div></div></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/35414852">Cardiac Amyloidosis Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stern LK,
|
||
Patel J</span><br />
|
||
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
|
||
2022;18(2):59-72.
|
||
Epub 2022 Mar 14
|
||
doi: 10.14797/mdcvj.1050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35414852" target="_blank">35414852</a><a href="/pmc/articles/PMC8932359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31907599">Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams D,
|
||
Ando Y,
|
||
Beirão JM,
|
||
Coelho T,
|
||
Gertz MA,
|
||
Gillmore JD,
|
||
Hawkins PN,
|
||
Lousada I,
|
||
Suhr OB,
|
||
Merlini G</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2021 Jun;268(6):2109-2122.
|
||
Epub 2020 Jan 6
|
||
doi: 10.1007/s00415-019-09688-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31907599" target="_blank">31907599</a><a href="/pmc/articles/PMC8179912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31480867">Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maurer MS,
|
||
Bokhari S,
|
||
Damy T,
|
||
Dorbala S,
|
||
Drachman BM,
|
||
Fontana M,
|
||
Grogan M,
|
||
Kristen AV,
|
||
Lousada I,
|
||
Nativi-Nicolau J,
|
||
Cristina Quarta C,
|
||
Rapezzi C,
|
||
Ruberg FL,
|
||
Witteles R,
|
||
Merlini G</span><br />
|
||
<span class="medgenPMjournal">Circ Heart Fail</span>
|
||
2019 Sep;12(9):e006075.
|
||
Epub 2019 Sep 4
|
||
doi: 10.1161/CIRCHEARTFAILURE.119.006075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31480867" target="_blank">31480867</a><a href="/pmc/articles/PMC6736650" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(familial%20amyloid%20polyneuropathy%2C%20iowa%20type)%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 (210)</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/37768671">Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coelho T,
|
||
Marques W Jr,
|
||
Dasgupta NR,
|
||
Chao CC,
|
||
Parman Y,
|
||
França MC Jr,
|
||
Guo YC,
|
||
Wixner J,
|
||
Ro LS,
|
||
Calandra CR,
|
||
Kowacs PA,
|
||
Berk JL,
|
||
Obici L,
|
||
Barroso FA,
|
||
Weiler M,
|
||
Conceição I,
|
||
Jung SW,
|
||
Buchele G,
|
||
Brambatti M,
|
||
Chen J,
|
||
Hughes SG,
|
||
Schneider E,
|
||
Viney NJ,
|
||
Masri A,
|
||
Gertz MR,
|
||
Ando Y,
|
||
Gillmore JD,
|
||
Khella S,
|
||
Dyck PJB,
|
||
Waddington Cruz M;
|
||
NEURO-TTRansform Investigators</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Oct 17;330(15):1448-1458.
|
||
doi: 10.1001/jama.2023.18688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37768671" target="_blank">37768671</a><a href="/pmc/articles/PMC10540057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33188616">Hereditary transthyretin amyloidosis overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manganelli F,
|
||
Fabrizi GM,
|
||
Luigetti M,
|
||
Mandich P,
|
||
Mazzeo A,
|
||
Pareyson D</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2022 Dec;43(Suppl 2):595-604.
|
||
Epub 2020 Nov 14
|
||
doi: 10.1007/s10072-020-04889-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33188616" target="_blank">33188616</a><a href="/pmc/articles/PMC9780126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31302046">Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witteles RM,
|
||
Bokhari S,
|
||
Damy T,
|
||
Elliott PM,
|
||
Falk RH,
|
||
Fine NM,
|
||
Gospodinova M,
|
||
Obici L,
|
||
Rapezzi C,
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<div class="nl"><a target="_blank" href="/pubmed/29048471">A new staging system for cardiac transthyretin amyloidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gillmore JD,
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Damy T,
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Fontana M,
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Hutchinson M,
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Lachmann HJ,
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Martinez-Naharro A,
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Quarta CC,
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Rezk T,
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Whelan CJ,
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Gonzalez-Lopez E,
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Lane T,
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Gilbertson JA,
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Rowczenio D,
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<div class="portlet_content ln"><span class="medgenPMauthor">Planté-Bordeneuve V,
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Said G</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20amyloid%20polyneuropathy%2C%20Iowa%20type%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 (959)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37901600">World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).</a></div>
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Albrecht FC,
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de Arenaza DP,
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Bart N,
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Better N,
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Conceição I,
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Damy T,
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Dorbala S,
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Fidalgo JC,
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Garcia-Pavia P,
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Epub 2023 Oct 26
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Fabrizi GM,
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Luigetti M,
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<div class="nl"><a target="_blank" href="/pubmed/33138983">Transthyretin amyloid cardiomyopathy.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/33138983" target="_blank">33138983</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22094129">Familial amyloid polyneuropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Planté-Bordeneuve V,
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Said G</span><br />
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<span class="medgenPMjournal">Lancet Neurol</span>
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<span class="bold">PMID: </span><a href="/pubmed/22094129" target="_blank">22094129</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20amyloid%20polyneuropathy%2C%20Iowa%20type%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 (1355)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37768671">Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.</a></div>
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Marques W Jr,
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Dasgupta NR,
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Chao CC,
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Parman Y,
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França MC Jr,
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Guo YC,
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Wixner J,
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Ro LS,
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Calandra CR,
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Kowacs PA,
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Berk JL,
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Obici L,
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Barroso FA,
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Weiler M,
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Conceição I,
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Jung SW,
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Buchele G,
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Brambatti M,
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Chen J,
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Hughes SG,
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Schneider E,
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Viney NJ,
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Masri A,
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Gertz MR,
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Ando Y,
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Gillmore JD,
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Khella S,
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Waddington Cruz M;
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doi: 10.1001/jama.2023.18688.
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<span class="bold">PMID: </span><a href="/pubmed/37768671" target="_blank">37768671</a><a href="/pmc/articles/PMC10540057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32926436">Autonomic neuropathies.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/32926436" target="_blank">32926436</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31302046">Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Witteles RM,
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Bokhari S,
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Damy T,
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Elliott PM,
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Falk RH,
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Fine NM,
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Gospodinova M,
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Obici L,
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Rapezzi C,
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Garcia-Pavia P</span><br />
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2019 Aug;7(8):709-716.
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Epub 2019 Jul 10
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<span class="bold">PMID: </span><a href="/pubmed/31302046" target="_blank">31302046</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30145929">Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Maurer MS,
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Schwartz JH,
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Gundapaneni B,
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Elliott PM,
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Merlini G,
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Waddington-Cruz M,
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Kristen AV,
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Grogan M,
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Witteles R,
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Damy T,
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Shah SJ,
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Hanna M,
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Barsdorf AI,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20amyloid%20polyneuropathy%2C%20Iowa%20type%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 (575)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37901600">World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brito D,
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Albrecht FC,
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de Arenaza DP,
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Bart N,
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Better N,
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Carvajal-Juarez I,
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Conceição I,
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Damy T,
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Dorbala S,
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Fidalgo JC,
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Garcia-Pavia P,
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Ge J,
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Gillmore JD,
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Grzybowski J,
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Obici L,
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Piñero D,
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Rapezzi C,
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Ueda M,
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2023;18(1):59.
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Epub 2023 Oct 26
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doi: 10.5334/gh.1262.
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<span class="bold">PMID: </span><a href="/pubmed/37901600" target="_blank">37901600</a><a href="/pmc/articles/PMC10607607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/31302046">Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Witteles RM,
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Bokhari S,
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Damy T,
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Elliott PM,
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Falk RH,
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Fine NM,
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Gospodinova M,
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Obici L,
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Rapezzi C,
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Garcia-Pavia P</span><br />
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<span class="medgenPMjournal">JACC Heart Fail</span>
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2019 Aug;7(8):709-716.
|
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Epub 2019 Jul 10
|
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doi: 10.1016/j.jchf.2019.04.010.
|
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<span class="bold">PMID: </span><a href="/pubmed/31302046" target="_blank">31302046</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31171094">Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ruberg FL,
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Grogan M,
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Hanna M,
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Kelly JW,
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<span class="bold">PMID: </span><a href="/pubmed/31171094" target="_blank">31171094</a><a href="/pmc/articles/PMC6724183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gillmore JD,
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Maurer MS,
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Falk RH,
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Merlini G,
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Damy T,
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Dispenzieri A,
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Berk JL,
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Quarta CC,
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Grogan M,
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Lachmann HJ,
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Bokhari S,
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Castano A,
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Dorbala S,
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Johnson GB,
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Rezk T,
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Fontana M,
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Palladini G,
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Milani P,
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Guidalotti PL,
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Flatman K,
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Lane T,
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Vonberg FW,
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Whelan CJ,
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Moon JC,
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Ruberg FL,
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Miller EJ,
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<div class="nl"><a target="_blank" href="/pubmed/22094129">Familial amyloid polyneuropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Planté-Bordeneuve V,
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Said G</span><br />
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<span class="medgenPMjournal">Lancet Neurol</span>
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2011 Dec;10(12):1086-97.
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<span class="bold">PMID: </span><a href="/pubmed/22094129" target="_blank">22094129</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20amyloid%20polyneuropathy%2C%20Iowa%20type%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 (719)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39213194">Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy.</a></div>
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Berk JL,
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Drachman B,
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Damy T,
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Garcia-Pavia P,
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Algalarrondo V,
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Slugg A,
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Garg PP,
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Boyle KL,
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Yureneva E,
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Silliman N,
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Yang L,
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Chen J,
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Maurer MS;
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2025 Jan 2;392(1):33-44.
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<span class="bold">PMID: </span><a href="/pubmed/39213194" target="_blank">39213194</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37768671">Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Coelho T,
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Marques W Jr,
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Dasgupta NR,
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Chao CC,
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Parman Y,
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França MC Jr,
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Guo YC,
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Wixner J,
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Ro LS,
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Calandra CR,
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Kowacs PA,
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Berk JL,
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Obici L,
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Barroso FA,
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Weiler M,
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Conceição I,
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Jung SW,
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Buchele G,
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Brambatti M,
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Chen J,
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Hughes SG,
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Schneider E,
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Viney NJ,
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Masri A,
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Gertz MR,
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Ando Y,
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Gillmore JD,
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Khella S,
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Dyck PJB,
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Waddington Cruz M;
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NEURO-TTRansform Investigators</span><br />
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<span class="medgenPMjournal">JAMA</span>
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2023 Oct 17;330(15):1448-1458.
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doi: 10.1001/jama.2023.18688.
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<span class="bold">PMID: </span><a href="/pubmed/37768671" target="_blank">37768671</a><a href="/pmc/articles/PMC10540057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35875890">Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Adams D,
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Coelho T,
|
||
Planté-Bordeneuve V,
|
||
Berk JL,
|
||
González-Duarte A,
|
||
Gillmore JD,
|
||
Low SC,
|
||
Sekijima Y,
|
||
Obici L,
|
||
Chen C,
|
||
Badri P,
|
||
Arum SM,
|
||
Vest J,
|
||
Polydefkis M;
|
||
HELIOS-A Collaborators</span><br />
|
||
<span class="medgenPMjournal">Amyloid</span>
|
||
2023 Mar;30(1):1-9.
|
||
Epub 2022 Jul 23
|
||
doi: 10.1080/13506129.2022.2091985.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35875890" target="_blank">35875890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31607664">How to Image Cardiac Amyloidosis: A Practical Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dorbala S,
|
||
Cuddy S,
|
||
Falk RH</span><br />
|
||
<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
|
||
2020 Jun;13(6):1368-1383.
|
||
Epub 2019 Oct 11
|
||
doi: 10.1016/j.jcmg.2019.07.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31607664" target="_blank">31607664</a><a href="/pmc/articles/PMC7148180" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27143678">Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gillmore JD,
|
||
Maurer MS,
|
||
Falk RH,
|
||
Merlini G,
|
||
Damy T,
|
||
Dispenzieri A,
|
||
Wechalekar AD,
|
||
Berk JL,
|
||
Quarta CC,
|
||
Grogan M,
|
||
Lachmann HJ,
|
||
Bokhari S,
|
||
Castano A,
|
||
Dorbala S,
|
||
Johnson GB,
|
||
Glaudemans AW,
|
||
Rezk T,
|
||
Fontana M,
|
||
Palladini G,
|
||
Milani P,
|
||
Guidalotti PL,
|
||
Flatman K,
|
||
Lane T,
|
||
Vonberg FW,
|
||
Whelan CJ,
|
||
Moon JC,
|
||
Ruberg FL,
|
||
Miller EJ,
|
||
Hutt DF,
|
||
Hazenberg BP,
|
||
Rapezzi C,
|
||
Hawkins PN</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2016 Jun 14;133(24):2404-12.
|
||
Epub 2016 Apr 22
|
||
doi: 10.1161/CIRCULATIONAHA.116.021612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27143678" target="_blank">27143678</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20amyloid%20polyneuropathy%2C%20Iowa%20type%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 (832)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38869839">Six-minute walk test as clinical end point in cardiomyopathy clinical trials, including ATTR-CM: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nativi-Nicolau J,
|
||
Yilmaz A,
|
||
Dasgupta N,
|
||
Macey R,
|
||
Cochrane J,
|
||
Peatman J,
|
||
Summers C,
|
||
Luth J,
|
||
Zolty R</span><br />
|
||
<span class="medgenPMjournal">J Comp Eff Res</span>
|
||
2024 Jul;13(7):e230158.
|
||
Epub 2024 Jun 13
|
||
doi: 10.57264/cer-2023-0158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38869839" target="_blank">38869839</a><a href="/pmc/articles/PMC11234454" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35730461">Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Antonopoulos AS,
|
||
Panagiotopoulos I,
|
||
Kouroutzoglou A,
|
||
Koutsis G,
|
||
Toskas P,
|
||
Lazaros G,
|
||
Toutouzas K,
|
||
Tousoulis D,
|
||
Tsioufis K,
|
||
Vlachopoulos C</span><br />
|
||
<span class="medgenPMjournal">Eur J Heart Fail</span>
|
||
2022 Sep;24(9):1677-1696.
|
||
Epub 2022 Aug 2
|
||
doi: 10.1002/ejhf.2589.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35730461" target="_blank">35730461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32311072">Pharmacological treatment for familial amyloid polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magrinelli F,
|
||
Fabrizi GM,
|
||
Santoro L,
|
||
Manganelli F,
|
||
Zanette G,
|
||
Cavallaro T,
|
||
Tamburin S</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Apr 20;4(4):CD012395.
|
||
doi: 10.1002/14651858.CD012395.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32311072" target="_blank">32311072</a><a href="/pmc/articles/PMC7170468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30295933">Hereditary transthyretin-related amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Iglseder S,
|
||
Wanschitz J,
|
||
Topakian R,
|
||
Löscher WN,
|
||
Grisold W</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2019 Feb;139(2):92-105.
|
||
Epub 2018 Oct 23
|
||
doi: 10.1111/ane.13035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30295933" target="_blank">30295933</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28434339">Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt H,
|
||
Cruz MW,
|
||
Botteman MF,
|
||
Carter JA,
|
||
Chopra A,
|
||
Stewart M,
|
||
Hopps M,
|
||
Fallet S,
|
||
Amass L</span><br />
|
||
<span class="medgenPMjournal">Amyloid</span>
|
||
2017 Mar;24(sup1):111-112.
|
||
doi: 10.1080/13506129.2017.1292903.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28434339" target="_blank">28434339</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20amyloid%20polyneuropathy%2C%20Iowa%20type%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 (40)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
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|
||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(familial%20amyloid%20polyneuropathy%2C%20iowa%20type)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Familial%20amyloid%20polyneuropathy%2C%20Iowa%20type%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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<a href="/pubmed?term=Familial%20amyloid%20polyneuropathy,%20Iowa%20type%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1635231" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1635231" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1635231" ref="log$=recordlinks">OMIM(Genes)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1635231" ref="log$=recordlinks">PubMed (OMIM)</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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||
</div>
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