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<meta name="keywords" content="C3463916, c3 glomerulopathy 2, c3 inactivator deficiency, c3g2, c3g2 c3 glomerulopathy 2, cfi, cfid, complement component 3 inactivator deficiency, complement factor 1 deficiency, complement factor 3i deficiency, complement factor i deficiency, complete factor i deficiency, disease or syndrome, factor i deficiency, immunodeficiency with factor i anomaly, 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="C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=483045
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ConceptID=C3463916
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-->
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<!--imgCountBooks = 6--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (6)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image003.gif" src-large="/books/NBK1425/bin/mpgn-Image003.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image005.gif" src-large="/books/NBK1425/bin/mpgn-Image005.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F5/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image002.gif" src-large="/books/NBK1425/bin/mpgn-Image002.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image006.gif" src-large="/books/NBK1425/bin/mpgn-Image006.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F6/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image001.gif" src-large="/books/NBK1425/bin/mpgn-Image001.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image004.gif" src-large="/books/NBK1425/bin/mpgn-Image004.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F4/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Factor I deficiency<span class="h1sub">(CFID)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483045</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:">C3463916</span></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>CFID; Complement factor I deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Factor I deficiency (234621005); Complement factor 3i deficiency (234621005); Complement component 3 inactivator deficiency (234621005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></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="CFI - ID: 3426 - NCBI Gene" href="/gene/3426" class="medgenPMinfo">CFI</a> (4q25)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012594" target="_blank">MONDO:0012594</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610984" target="_blank">610984</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=200418">ORPHA200418</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1425" target="_blank">C3 Glomerulopathy</a></div><div>C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1425#mpgn.Summary" target="NBK1425">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Diagnosis" target="NBK1425">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Clinical_Characteristics" target="NBK1425">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Genetically_Related_Allelic_Disorde" target="NBK1425">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Differential_Diagnosis" target="NBK1425">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Management" target="NBK1425">Management</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Genetic_Counseling" target="NBK1425">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Resources" target="NBK1425">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Molecular_Genetics" target="NBK1425">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.References" target="NBK1425">References</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Chapter_Notes" target="NBK1425">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Bertha Martín | Richard JH Smith <a href="/books/NBK1425" target="NBK1425" title="NCBI Bookshelf: C3 Glomerulopathy">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Hereditary deficiency of complement factor I (CFID) is associated with a propensity to pyogenic infection and usually follows an autosomal recessive pattern of inheritance (Vyse et al., 1996). A subset of patients with CFID develop a renal disease termed 'C3 glomerulopathy' (C3G2), which is characterized by glomerular deposition of C3 observed on renal biopsy. Affected individuals have hematuria and proteinuria with variable progression of renal dysfunction (summary by Servais et al., 2007).
|
||
For a discussion of genetic heterogeneity of C3G, see C3G1 (609814), also known as complement factor H deficiency. <a target="_blank" href="http://www.omim.org/entry/610984">http://www.omim.org/entry/610984</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_120466"><div><strong>Recurrent urinary tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120466</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.">C0262655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Repeated infections of the urinary tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120466">Feature record</a> | <a href="/medgen?term=%22Recurrent%20urinary%20tract%20infections%22%5BClinical%20Features%5D%20OR%20120466%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</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.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12054"><div><strong>Vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12054</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.">C0042384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of blood vessel.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12054">Feature record</a> | <a href="/medgen?term=%22Vasculitis%22%5BClinical%20Features%5D%20OR%2012054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_13918"><div><strong>Infective arthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13918</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.">C0003869</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13918">Feature record</a> | <a href="/medgen?term=%22Infective%20arthritis%22%5BClinical%20Features%5D%20OR%2013918%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107919"><div><strong>Recurrent sinusitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107919</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.">C0581354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A recurrent form of sinusitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107919">Feature record</a> | <a href="/medgen?term=%22Recurrent%20sinusitis%22%5BClinical%20Features%5D%20OR%20107919%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6616"><div><strong>Glomerulonephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6616</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.">C0017658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the renal glomeruli.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6616">Feature record</a> | <a href="/medgen?term=%22Glomerulonephritis%22%5BClinical%20Features%5D%20OR%206616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19590"><div><strong>Pyelonephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19590</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.">C0034186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19590">Feature record</a> | <a href="/medgen?term=%22Pyelonephritis%22%5BClinical%20Features%5D%20OR%2019590%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_152879"><div><strong>Recurrent meningitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152879</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.">C0746495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152879">Feature record</a> | <a href="/medgen?term=%22Recurrent%20meningitis%22%5BClinical%20Features%5D%20OR%20152879%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155436"><div><strong>Recurrent otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155436</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.">C0747085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155436">Feature record</a> | <a href="/medgen?term=%22Recurrent%20otitis%20media%22%5BClinical%20Features%5D%20OR%20155436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332469"><div><strong>Decreased circulating complement C3 concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332469</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.">C1837512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of the complement component C3 in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332469">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20complement%20C3%20concentration%22%5BClinical%20Features%5D%20OR%20332469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377848"><div><strong>Recurrent skin infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377848</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.">C1853193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infections of the skin that happen multiple times.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377848">Feature record</a> | <a href="/medgen?term=%22Recurrent%20skin%20infections%22%5BClinical%20Features%5D%20OR%20377848%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_409784"><div><strong>Decreased circulating complement factor H concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409784</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.">C1969222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of the complement component factor H in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409784">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20complement%20factor%20H%20concentration%22%5BClinical%20Features%5D%20OR%20409784%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_370868"><div><strong>Decreased circulating complement factor I concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370868</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.">C1970257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of the complement component factor I in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370868">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20complement%20factor%20I%20concentration%22%5BClinical%20Features%5D%20OR%20370868%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_369692"><div><strong>Recurrent meningococcal disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369692</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.">C1970263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369692">Feature record</a> | <a href="/medgen?term=%22Recurrent%20meningococcal%20disease%22%5BClinical%20Features%5D%20OR%20369692%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488989"><div><strong>Recurrent streptococcus pneumoniae infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488989</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.">C2169794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488989">Feature record</a> | <a href="/medgen?term=%22Recurrent%20streptococcus%20pneumoniae%20infections%22%5BClinical%20Features%5D%20OR%20488989%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867275"><div><strong>Decreased circulating complement factor B concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867275</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.">C4021636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of the complement component factor B in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867275">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20complement%20factor%20B%20concentration%22%5BClinical%20Features%5D%20OR%20867275%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870747"><div><strong>Recurrent Haemophilus influenzae infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870747</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.">C4025204</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870747">Feature record</a> | <a href="/medgen?term=%22Recurrent%20Haemophilus%20influenzae%20infections%22%5BClinical%20Features%5D%20OR%20870747%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 the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vasculitis</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_120466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent urinary tract infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating complement C3 concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating complement factor B concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_409784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating complement factor H concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_370868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating complement factor I concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glomerulonephritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyelonephritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870747" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent Haemophilus influenzae infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_152879" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent meningitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_369692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent meningococcal disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent otitis media</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent skin infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent streptococcus pneumoniae infections</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infective arthritis</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_107919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent sinusitis</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3463916[DISCUI]&test_type=Clinical" ref="ncbi_uid=483045">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=483045" target="_blank" href="/omim/217030">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1425/" ref="ncbi_uid=483045">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=483045" ref="ncbi_uid=483045">V</a></span></span><span class="TLline">Factor I deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842205" ref="tree=MeSH" title="MedGen record for Immunodeficiency due to a complement regulatory deficiency">Immunodeficiency due to a complement regulatory deficiency</a></span><ul><li><span class="matched_ds">Factor I deficiency</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/37805563">Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Backeljauw PF,
|
||
Andrews M,
|
||
Bang P,
|
||
Dalle Molle L,
|
||
Deal CL,
|
||
Harvey J,
|
||
Langham S,
|
||
Petriczko E,
|
||
Polak M,
|
||
Storr HL,
|
||
Dattani MT</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Oct 7;18(1):312.
|
||
doi: 10.1186/s13023-023-02928-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37805563" target="_blank">37805563</a><a href="/pmc/articles/PMC10559630" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27884013">Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grimberg A,
|
||
DiVall SA,
|
||
Polychronakos C,
|
||
Allen DB,
|
||
Cohen LE,
|
||
Quintos JB,
|
||
Rossi WC,
|
||
Feudtner C,
|
||
Murad MH;
|
||
Drug and Therapeutics Committee and Ethics Committee of the Pediatric Endocrine Society</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2016;86(6):361-397.
|
||
Epub 2016 Nov 25
|
||
doi: 10.1159/000452150.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27884013" target="_blank">27884013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19627167">Insulin-like growth factor-I deficiency in children with growth hormone insensitivity: current and future treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kemp SF</span><br />
|
||
<span class="medgenPMjournal">BioDrugs</span>
|
||
2009;23(3):155-63.
|
||
doi: 10.2165/00063030-200923030-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19627167" target="_blank">19627167</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22factor%20i%20deficiency%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</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/38752175">Evolving growth hormone deficiency: proof of concept.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chimatapu SN,
|
||
Sethuram S,
|
||
Samuels JG,
|
||
Klomhaus A,
|
||
Mintz C,
|
||
Savage MO,
|
||
Rapaport R</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2024;15:1398171.
|
||
Epub 2024 May 1
|
||
doi: 10.3389/fendo.2024.1398171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38752175" target="_blank">38752175</a><a href="/pmc/articles/PMC11095394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37608387">Circulating insulin-like growth factor-1 and brain health: Evidence from 369,711 participants in the UK Biobank.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao Z,
|
||
Min J,
|
||
Tan Q,
|
||
Si K,
|
||
Yang H,
|
||
Xu C</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Res Ther</span>
|
||
2023 Aug 22;15(1):140.
|
||
doi: 10.1186/s13195-023-01288-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37608387" target="_blank">37608387</a><a href="/pmc/articles/PMC10463341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28528685">IGF-I deficiency, longevity and cancer protection of patients with Laron syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laron Z,
|
||
Kauli R,
|
||
Lapkina L,
|
||
Werner H</span><br />
|
||
<span class="medgenPMjournal">Mutat Res Rev Mutat Res</span>
|
||
2017 Apr-Jun;772:123-133.
|
||
Epub 2016 Aug 5
|
||
doi: 10.1016/j.mrrev.2016.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28528685" target="_blank">28528685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27884013">Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grimberg A,
|
||
DiVall SA,
|
||
Polychronakos C,
|
||
Allen DB,
|
||
Cohen LE,
|
||
Quintos JB,
|
||
Rossi WC,
|
||
Feudtner C,
|
||
Murad MH;
|
||
Drug and Therapeutics Committee and Ethics Committee of the Pediatric Endocrine Society</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2016;86(6):361-397.
|
||
Epub 2016 Nov 25
|
||
doi: 10.1159/000452150.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27884013" target="_blank">27884013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9354748">The somatopause: should growth hormone deficiency in older people Be treated?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lieberman SA,
|
||
Hoffman AR</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
1997 Nov;13(4):671-84.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9354748" target="_blank">9354748</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20I%20deficiency%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 (115)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38853618">Common and Uncommon Mouse Models of Growth Hormone Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">List EO,
|
||
Basu R,
|
||
Berryman DE,
|
||
Duran-Ortiz S,
|
||
Martos-Moreno GÁ,
|
||
Kopchick JJ</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2024 Nov 22;45(6):818-842.
|
||
doi: 10.1210/endrev/bnae017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38853618" target="_blank">38853618</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37008935">Short stature related to Growth Hormone Insensitivity (GHI) in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mastromauro C,
|
||
Giannini C,
|
||
Chiarelli F</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1141039.
|
||
Epub 2023 Mar 15
|
||
doi: 10.3389/fendo.2023.1141039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37008935" target="_blank">37008935</a><a href="/pmc/articles/PMC10050683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27884013">Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grimberg A,
|
||
DiVall SA,
|
||
Polychronakos C,
|
||
Allen DB,
|
||
Cohen LE,
|
||
Quintos JB,
|
||
Rossi WC,
|
||
Feudtner C,
|
||
Murad MH;
|
||
Drug and Therapeutics Committee and Ethics Committee of the Pediatric Endocrine Society</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2016;86(6):361-397.
|
||
Epub 2016 Nov 25
|
||
doi: 10.1159/000452150.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27884013" target="_blank">27884013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19481265">Complement in human diseases: Lessons from complement deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Botto M,
|
||
Kirschfink M,
|
||
Macor P,
|
||
Pickering MC,
|
||
Würzner R,
|
||
Tedesco F</span><br />
|
||
<span class="medgenPMjournal">Mol Immunol</span>
|
||
2009 Sep;46(14):2774-83.
|
||
Epub 2009 May 28
|
||
doi: 10.1016/j.molimm.2009.04.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19481265" target="_blank">19481265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11095419">Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Growth Hormone Research Society</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2000 Nov;85(11):3990-3.
|
||
doi: 10.1210/jcem.85.11.6984.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11095419" target="_blank">11095419</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20I%20deficiency%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 (95)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28525404">Growth hormone treatment for growth hormone deficiency and idiopathic short stature: new guidelines shaped by the presence and absence of evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grimberg A,
|
||
Allen DB</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2017 Aug;29(4):466-471.
|
||
doi: 10.1097/MOP.0000000000000505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28525404" target="_blank">28525404</a><a href="/pmc/articles/PMC5565215" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27884013">Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grimberg A,
|
||
DiVall SA,
|
||
Polychronakos C,
|
||
Allen DB,
|
||
Cohen LE,
|
||
Quintos JB,
|
||
Rossi WC,
|
||
Feudtner C,
|
||
Murad MH;
|
||
Drug and Therapeutics Committee and Ethics Committee of the Pediatric Endocrine Society</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2016;86(6):361-397.
|
||
Epub 2016 Nov 25
|
||
doi: 10.1159/000452150.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27884013" target="_blank">27884013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16508330">Treatment of insulin-like growth factor deficiency with IGF-I: studies in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Backeljauw PF,
|
||
Chernausek SD</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
2006;65 Suppl 1:21-7.
|
||
Epub 2006 Mar 2
|
||
doi: 10.1159/000090643.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16508330" target="_blank">16508330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11095419">Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Growth Hormone Research Society</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2000 Nov;85(11):3990-3.
|
||
doi: 10.1210/jcem.85.11.6984.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11095419" target="_blank">11095419</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9449036">Functional consequences of the somatopause and its treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoffman AR,
|
||
Lieberman SA,
|
||
Butterfield G,
|
||
Thompson J,
|
||
Hintz RL,
|
||
Ceda GP,
|
||
Marcus R</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
1997 Aug;7(1):73-6.
|
||
doi: 10.1007/BF02778067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9449036" target="_blank">9449036</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20I%20deficiency%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 (138)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31982729">Therapy with recombinant human IGF-1 for children with primary insulin-like growth factor-I deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Backeljauw P</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
2020 Apr;51:22-26.
|
||
Epub 2020 Jan 13
|
||
doi: 10.1016/j.ghir.2020.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31982729" target="_blank">31982729</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29292855">Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jlajla H,
|
||
Dehman F,
|
||
Jallouli M,
|
||
Khedher R,
|
||
Ayadi I,
|
||
Zerzeri Y,
|
||
Laadhar L,
|
||
Sfar I,
|
||
Mahfoudh A,
|
||
Gorgi Y,
|
||
Cheour E,
|
||
Zouaghi K,
|
||
Gargah T,
|
||
Kallel Sellami M</span><br />
|
||
<span class="medgenPMjournal">Nephrology (Carlton)</span>
|
||
2019 Mar;24(3):357-364.
|
||
doi: 10.1111/nep.13217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29292855" target="_blank">29292855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28323917">Growth Hormone Treatment in Children With Prader-Willi Syndrome: Three Years of Longitudinal Data in Prepubertal Children and Adult Height Data From the KIGS Database.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakker NE,
|
||
Lindberg A,
|
||
Heissler J,
|
||
Wollmann HA,
|
||
Camacho-Hübner C,
|
||
Hokken-Koelega AC;
|
||
KIGS Steering Committee</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2017 May 1;102(5):1702-1711.
|
||
doi: 10.1210/jc.2016-2962.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28323917" target="_blank">28323917</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24529874">Hormones and cardiovascular disease in older men.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeap BB,
|
||
Flicker L</span><br />
|
||
<span class="medgenPMjournal">J Am Med Dir Assoc</span>
|
||
2014 May;15(5):326-33.
|
||
Epub 2014 Feb 12
|
||
doi: 10.1016/j.jamda.2013.12.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24529874" target="_blank">24529874</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19517134">Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Concolino D,
|
||
Muzzi G,
|
||
Sestito S,
|
||
Vega G,
|
||
Bonapace G,
|
||
Strisciuglio P</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2010 Feb;169(2):245-7.
|
||
Epub 2009 Jun 11
|
||
doi: 10.1007/s00431-009-1004-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19517134" target="_blank">19517134</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20I%20deficiency%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 (52)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37805563">Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Backeljauw PF,
|
||
Andrews M,
|
||
Bang P,
|
||
Dalle Molle L,
|
||
Deal CL,
|
||
Harvey J,
|
||
Langham S,
|
||
Petriczko E,
|
||
Polak M,
|
||
Storr HL,
|
||
Dattani MT</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Oct 7;18(1):312.
|
||
doi: 10.1186/s13023-023-02928-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37805563" target="_blank">37805563</a><a href="/pmc/articles/PMC10559630" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37608387">Circulating insulin-like growth factor-1 and brain health: Evidence from 369,711 participants in the UK Biobank.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao Z,
|
||
Min J,
|
||
Tan Q,
|
||
Si K,
|
||
Yang H,
|
||
Xu C</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Res Ther</span>
|
||
2023 Aug 22;15(1):140.
|
||
doi: 10.1186/s13195-023-01288-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37608387" target="_blank">37608387</a><a href="/pmc/articles/PMC10463341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30593420">IGF - Autism prevention/amelioration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinman G</span><br />
|
||
<span class="medgenPMjournal">Med Hypotheses</span>
|
||
2019 Jan;122:45-47.
|
||
Epub 2018 Oct 22
|
||
doi: 10.1016/j.mehy.2018.10.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30593420" target="_blank">30593420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24639006">Managing the child with severe primary insulin-like growth factor-1 deficiency (IGFD): IGFD diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen J,
|
||
Blethen S,
|
||
Kuntze J,
|
||
Smith SL,
|
||
Lomax KG,
|
||
Mathew PM</span><br />
|
||
<span class="medgenPMjournal">Drugs R D</span>
|
||
2014 Mar;14(1):25-9.
|
||
doi: 10.1007/s40268-014-0039-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24639006" target="_blank">24639006</a><a href="/pmc/articles/PMC3964293" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9354748">The somatopause: should growth hormone deficiency in older people Be treated?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lieberman SA,
|
||
Hoffman AR</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
1997 Nov;13(4):671-84.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9354748" target="_blank">9354748</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20I%20deficiency%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 (107)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</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 mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3463916%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C3463916%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3463916%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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||
</ul></div>
|
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</div>
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||
|
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<div class="portlet mgSection" id="ID_119">
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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://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=610984" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=200418" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Factor%20I%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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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="https://pubmed.ncbi.nlm.nih.gov/?term=(%22factor%20i%20deficiency%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Factor%20I%20deficiency%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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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=217030" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3426[geneid]" target="_blank">View CFI variations in ClinVar</a></li><li><a href="/nuccore/187423891" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=610984" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/complement_factor_i_deficiency" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Factor%20I%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17098/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
|
||
<li>
|
||
<a href="/pubmed/20301598" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Factor%20I%20deficiency" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Factor%20I%20deficiency%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=483045" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=483045" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3463916[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3463916[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=483045" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=483045" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=483045" ref="log$=recordlinks">OMIM(Genes)</a>
|
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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