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<title>
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Entry
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- #609135 - APLASTIC ANEMIA
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(APLASTIC ANEMIA) OR (PRF1 OR SBDS OR IFNG OR NBN)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8751&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:12449" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/609135" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:12449" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 304132006, 306058006<br />
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<strong>ICD10CM:</strong> D61.9<br />
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<strong>ICD9CM:</strong> 284.9<br />
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<strong>ORPHA:</strong> 88<br />
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<strong>DO:</strong> 12449<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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609135
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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APLASTIC ANEMIA
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</h3>
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<div>
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<br />
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
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APLASTIC ANEMIA, SUSCEPTIBILITY TO, INCLUDED
|
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</span>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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7q11.21
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{Aplastic anemia, susceptibility to}
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<span class="mim-font">
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<a href="/entry/609135"> 609135 </a>
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<span class="mim-font">
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Aplastic anemia
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<span class="mim-font">
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<a href="/entry/609135"> 609135 </a>
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<span class="mim-font">
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<span class="mim-font">
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<a href="/entry/602667"> 602667 </a>
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<span class="mim-font">
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<a href="/geneMap/10/274?start=-3&limit=10&highlight=274">
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10q22.1
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<span class="mim-font">
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Aplastic anemia
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<span class="mim-font">
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<a href="/entry/609135"> 609135 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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PRF1
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<span class="mim-font">
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<a href="/entry/170280"> 170280 </a>
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<span class="mim-font">
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<a href="/geneMap/12/598?start=-3&limit=10&highlight=598">
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12q15
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<span class="mim-font">
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{Aplastic anemia}
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<span class="mim-font">
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<a href="/entry/609135"> 609135 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/147570"> 147570 </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/609135" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/609135" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that aplastic anemia can be associated with mutations in the interferon-gamma gene (IFNG; <a href="/entry/147570">147570</a>), the NBS1 gene (<a href="/entry/602667">602667</a>), the PRF1 gene (<a href="/entry/170280">170280</a>), or the SBDS gene (<a href="/entry/607444">607444</a>).</p><p>Aplastic anemia may also result from bone marrow failure in patients with mutations in the TERT (<a href="/entry/187270">187270</a>) or the TERC (<a href="/entry/602322">602322</a>) gene: see PFBMFT1 (<a href="/entry/614742">614742</a>) and PFBMFT2 (<a href="/entry/614743">614743</a>).</p>
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<p>Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (<a href="#6" class="mim-tip-reference" title="Young, N. S. <strong>The etiology of acquired aplastic anemia.</strong> Rev. Clin. Exp. Hemat. 4: 236-239, 2000."None>Young, 2000</a>). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by <a href="#5" class="mim-tip-reference" title="Vulliamy, T., Marrone, A., Dokal, I., Mason, P. J. <strong>Association between aplastic anaemia and mutations in telomerase RNA.</strong> Lancet 359: 2168-2170, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12090986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12090986</a>] [<a href="https://doi.org/10.1016/S0140-6736(02)09087-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12090986">Vulliamy et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12090986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p>Interferon-gamma mediates the final damage of the stem cell compartment in aplastic anemia. <a href="#2" class="mim-tip-reference" title="Dufour, C., Capasso, M., Svahn, J., Marrone, A., Haupt, R., Bacigalupo, A., Giordani, L., Longoni, D., Pillon, M., Pistorio, A., Di Michele, P., Iori, A. P., Pongiglione, C., Lanciotti, M., Iolascon, A. <strong>Homozygosis for (12)CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population.</strong> Brit. J. Haemat. 126: 682-685, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15327519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15327519</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.05102.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15327519">Dufour et al. (2004)</a> studied the distribution of the VNDR 1349 polymorphism of IFNG (<a href="/entry/147570#0001">147570.0001</a>) in 67 Caucasian patients with aplastic anemia and in normal controls. Homozygosity for allele 2 (12 repeats on each chromosome) or the 12 repeats on only 1 chromosome were significantly more frequent (p = 0.005 and 0.004, respectively) in patients versus controls. The polymorphism was equally distributed in aplastic anemia patients regardless of their response to immunosuppression. <a href="#2" class="mim-tip-reference" title="Dufour, C., Capasso, M., Svahn, J., Marrone, A., Haupt, R., Bacigalupo, A., Giordani, L., Longoni, D., Pillon, M., Pistorio, A., Di Michele, P., Iori, A. P., Pongiglione, C., Lanciotti, M., Iolascon, A. <strong>Homozygosis for (12)CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population.</strong> Brit. J. Haemat. 126: 682-685, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15327519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15327519</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.05102.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15327519">Dufour et al. (2004)</a> concluded that homozygosity for 12 CA repeats at position 1349 of the IFNG gene is strongly associated with the risk of aplastic anemia in Caucasian subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15327519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 11-year-old Japanese girl with aplastic anemia, <a href="#3" class="mim-tip-reference" title="Shimada, H., Shimizu, K, Mimaki, S., Sakiyama, T., Mori, T., Shimasaki, N., Yokota, J., Nakachi, K., Ohta, T., Ohki, M. <strong>First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.</strong> Hum. Genet. 115: 372-376, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15338273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15338273</a>] [<a href="https://doi.org/10.1007/s00439-004-1155-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15338273">Shimada et al. (2004)</a> identified homozygosity for the I171V mutation in the NBS1 gene (<a href="/entry/602667#0007">602667.0007</a>). The patient had no features of NBS (<a href="/entry/251260">251260</a>). Cytogenetic analysis of lymphoblastic cell lines from the patient showed a marked increase in numerical and structural chromosomal aberrations in the absence of clastogens, suggesting genomic instability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15338273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Solomou, E. E., Gibellini, F., Stewart, B., Malide, D., Berg, M., Visconte, V., Green, S., Childs, R., Chanock, S. J., Young, N. S. <strong>Perforin gene mutations in patients with acquired aplastic anemia.</strong> Blood 109: 5234-5237, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17311987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17311987</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17311987[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2006-12-063495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17311987">Solomou et al. (2007)</a> identified mutations in the PRF1 gene (<a href="/entry/170280#0011">170280.0011</a>-<a href="/entry/170280#0013">170280.0013</a>) in 5 unrelated patients with adult-onset aplastic anemia. Four of the 5 patients showed hemophagocytosis on bone marrow biopsy, but none had clinical manifestations of the hemophagocytosis syndrome (FHL2; <a href="/entry/603553">603553</a>). Perforin protein levels in these patients were very low or absent, perforin granules were absent, and natural killer cell cytotoxicity was significantly decreased. <a href="#4" class="mim-tip-reference" title="Solomou, E. E., Gibellini, F., Stewart, B., Malide, D., Berg, M., Visconte, V., Green, S., Childs, R., Chanock, S. J., Young, N. S. <strong>Perforin gene mutations in patients with acquired aplastic anemia.</strong> Blood 109: 5234-5237, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17311987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17311987</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17311987[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2006-12-063495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17311987">Solomou et al. (2007)</a> concluded that PRF1 gene alterations may explain aberrant proliferation and activation of cytotoxic T cells in aplastic anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17311987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Calado, R. T., Graf, S. A., Wilkerson, K. L., Kajigaya, S., Ancliff, P. J., Dror, Y., Chanock, S. J., Lansdorp, P. M., Young, N. S. <strong>Mutations in the SBDS gene in acquired aplastic anemia.</strong> Blood 110: 1141-1146, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17478638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17478638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17478638[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2007-03-080044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17478638">Calado et al. (2007)</a> identified a heterozygous mutation in the SBDS gene (<a href="/entry/607444#0002">607444.0002</a>) in 4 of 91 unrelated patients with aplastic anemia. These patients were younger on average (5 to 19 years) compared to other patients with aplastic anemia. Two mothers tested were carriers of the mutation; these 2 and another mother who was not tested had histories of subclinical mild anemia. Heterozygous mutation carriers had partial loss of SBDS protein expression, indicating haploinsufficiency. Although telomere shortening was observed in patients' granulocytes, lymphocytes had normal telomere length. Homozygous or compound heterozygous mutations in the SBDS gene result in Shwachman-Diamond syndrome (SDS; <a href="/entry/260400">260400</a>), but none of the patients with aplastic anemia had pancreatic exocrine failure or skeletal anomalies as seen in SDS. One of the 4 probands was also heterozygous for a presumed pathogenic variant in the TERT gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17478638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between aplastic anemia and variation in the MASTL gene, see <a href="/entry/608221#0002">608221.0002</a>.</p>
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Calado2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Calado, R. T., Graf, S. A., Wilkerson, K. L., Kajigaya, S., Ancliff, P. J., Dror, Y., Chanock, S. J., Lansdorp, P. M., Young, N. S.
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<strong>Mutations in the SBDS gene in acquired aplastic anemia.</strong>
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|
Blood 110: 1141-1146, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17478638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17478638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17478638[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17478638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1182/blood-2007-03-080044" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Dufour2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dufour, C., Capasso, M., Svahn, J., Marrone, A., Haupt, R., Bacigalupo, A., Giordani, L., Longoni, D., Pillon, M., Pistorio, A., Di Michele, P., Iori, A. P., Pongiglione, C., Lanciotti, M., Iolascon, A.
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|
<strong>Homozygosis for (12)CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population.</strong>
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|
Brit. J. Haemat. 126: 682-685, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15327519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15327519</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15327519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.2004.05102.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Shimada2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shimada, H., Shimizu, K, Mimaki, S., Sakiyama, T., Mori, T., Shimasaki, N., Yokota, J., Nakachi, K., Ohta, T., Ohki, M.
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|
<strong>First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.</strong>
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|
Hum. Genet. 115: 372-376, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15338273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15338273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15338273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-004-1155-1" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Solomou2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Solomou, E. E., Gibellini, F., Stewart, B., Malide, D., Berg, M., Visconte, V., Green, S., Childs, R., Chanock, S. J., Young, N. S.
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<strong>Perforin gene mutations in patients with acquired aplastic anemia.</strong>
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|
Blood 109: 5234-5237, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17311987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17311987</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17311987[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17311987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1182/blood-2006-12-063495" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Vulliamy2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vulliamy, T., Marrone, A., Dokal, I., Mason, P. J.
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<strong>Association between aplastic anaemia and mutations in telomerase RNA.</strong>
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Lancet 359: 2168-2170, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12090986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12090986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12090986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/S0140-6736(02)09087-6" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Young2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Young, N. S.
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<strong>The etiology of acquired aplastic anemia.</strong>
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Rev. Clin. Exp. Hemat. 4: 236-239, 2000.
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/01/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/25/2008<br>Cassandra L. Kniffin - updated : 9/20/2007<br>Marla J. F. O'Neill - updated : 4/29/2005<br>Victor A. McKusick - updated : 4/11/2005
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 1/4/2005
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/02/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/01/2016<br>ckniffin : 10/25/2016<br>carol : 08/06/2012<br>ckniffin : 7/26/2012<br>wwang : 6/25/2009<br>mgross : 10/15/2008<br>wwang : 3/5/2008<br>ckniffin : 2/25/2008<br>wwang : 9/25/2007<br>ckniffin : 9/20/2007<br>wwang : 4/29/2005<br>wwang : 4/28/2005<br>wwang : 4/20/2005<br>terry : 4/11/2005<br>tkritzer : 1/4/2005<br>carol : 1/4/2005
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</span>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 609135
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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APLASTIC ANEMIA
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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APLASTIC ANEMIA, SUSCEPTIBILITY TO, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 304132006, 306058006;
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<strong>ICD10CM:</strong> D61.9;
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<strong>ICD9CM:</strong> 284.9;
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<strong>ORPHA:</strong> 88;
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<strong>DO:</strong> 12449;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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7q11.21
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Aplastic anemia, susceptibility to}
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</span>
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</td>
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<td>
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<span class="mim-font">
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609135
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
SBDS
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</span>
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</td>
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<td>
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<span class="mim-font">
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607444
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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8q21.3
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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Aplastic anemia
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</span>
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</td>
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<td>
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<span class="mim-font">
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609135
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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NBN
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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602667
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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10q22.1
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Aplastic anemia
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
609135
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
PRF1
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
170280
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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12q15
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
{Aplastic anemia}
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
609135
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
IFNG
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
147570
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that aplastic anemia can be associated with mutations in the interferon-gamma gene (IFNG; 147570), the NBS1 gene (602667), the PRF1 gene (170280), or the SBDS gene (607444).</p><p>Aplastic anemia may also result from bone marrow failure in patients with mutations in the TERT (187270) or the TERC (602322) gene: see PFBMFT1 (614742) and PFBMFT2 (614743).</p>
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<strong>Description</strong>
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<p>Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002). </p>
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<strong>Molecular Genetics</strong>
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<p>Interferon-gamma mediates the final damage of the stem cell compartment in aplastic anemia. Dufour et al. (2004) studied the distribution of the VNDR 1349 polymorphism of IFNG (147570.0001) in 67 Caucasian patients with aplastic anemia and in normal controls. Homozygosity for allele 2 (12 repeats on each chromosome) or the 12 repeats on only 1 chromosome were significantly more frequent (p = 0.005 and 0.004, respectively) in patients versus controls. The polymorphism was equally distributed in aplastic anemia patients regardless of their response to immunosuppression. Dufour et al. (2004) concluded that homozygosity for 12 CA repeats at position 1349 of the IFNG gene is strongly associated with the risk of aplastic anemia in Caucasian subjects. </p><p>In an 11-year-old Japanese girl with aplastic anemia, Shimada et al. (2004) identified homozygosity for the I171V mutation in the NBS1 gene (602667.0007). The patient had no features of NBS (251260). Cytogenetic analysis of lymphoblastic cell lines from the patient showed a marked increase in numerical and structural chromosomal aberrations in the absence of clastogens, suggesting genomic instability. </p><p>Solomou et al. (2007) identified mutations in the PRF1 gene (170280.0011-170280.0013) in 5 unrelated patients with adult-onset aplastic anemia. Four of the 5 patients showed hemophagocytosis on bone marrow biopsy, but none had clinical manifestations of the hemophagocytosis syndrome (FHL2; 603553). Perforin protein levels in these patients were very low or absent, perforin granules were absent, and natural killer cell cytotoxicity was significantly decreased. Solomou et al. (2007) concluded that PRF1 gene alterations may explain aberrant proliferation and activation of cytotoxic T cells in aplastic anemia. </p><p>Calado et al. (2007) identified a heterozygous mutation in the SBDS gene (607444.0002) in 4 of 91 unrelated patients with aplastic anemia. These patients were younger on average (5 to 19 years) compared to other patients with aplastic anemia. Two mothers tested were carriers of the mutation; these 2 and another mother who was not tested had histories of subclinical mild anemia. Heterozygous mutation carriers had partial loss of SBDS protein expression, indicating haploinsufficiency. Although telomere shortening was observed in patients' granulocytes, lymphocytes had normal telomere length. Homozygous or compound heterozygous mutations in the SBDS gene result in Shwachman-Diamond syndrome (SDS; 260400), but none of the patients with aplastic anemia had pancreatic exocrine failure or skeletal anomalies as seen in SDS. One of the 4 probands was also heterozygous for a presumed pathogenic variant in the TERT gene. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between aplastic anemia and variation in the MASTL gene, see 608221.0002.</p>
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<strong>REFERENCES</strong>
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Calado, R. T., Graf, S. A., Wilkerson, K. L., Kajigaya, S., Ancliff, P. J., Dror, Y., Chanock, S. J., Lansdorp, P. M., Young, N. S.
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<strong>Mutations in the SBDS gene in acquired aplastic anemia.</strong>
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Blood 110: 1141-1146, 2007.
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[PubMed: 17478638]
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[Full Text: https://doi.org/10.1182/blood-2007-03-080044]
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Dufour, C., Capasso, M., Svahn, J., Marrone, A., Haupt, R., Bacigalupo, A., Giordani, L., Longoni, D., Pillon, M., Pistorio, A., Di Michele, P., Iori, A. P., Pongiglione, C., Lanciotti, M., Iolascon, A.
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<strong>Homozygosis for (12)CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population.</strong>
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Brit. J. Haemat. 126: 682-685, 2004.
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[PubMed: 15327519]
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[Full Text: https://doi.org/10.1111/j.1365-2141.2004.05102.x]
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Shimada, H., Shimizu, K, Mimaki, S., Sakiyama, T., Mori, T., Shimasaki, N., Yokota, J., Nakachi, K., Ohta, T., Ohki, M.
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<strong>First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.</strong>
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Hum. Genet. 115: 372-376, 2004.
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[PubMed: 15338273]
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[Full Text: https://doi.org/10.1007/s00439-004-1155-1]
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Solomou, E. E., Gibellini, F., Stewart, B., Malide, D., Berg, M., Visconte, V., Green, S., Childs, R., Chanock, S. J., Young, N. S.
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<strong>Perforin gene mutations in patients with acquired aplastic anemia.</strong>
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Blood 109: 5234-5237, 2007.
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[PubMed: 17311987]
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[Full Text: https://doi.org/10.1182/blood-2006-12-063495]
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Vulliamy, T., Marrone, A., Dokal, I., Mason, P. J.
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<strong>Association between aplastic anaemia and mutations in telomerase RNA.</strong>
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Lancet 359: 2168-2170, 2002.
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[PubMed: 12090986]
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[Full Text: https://doi.org/10.1016/S0140-6736(02)09087-6]
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Young, N. S.
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<strong>The etiology of acquired aplastic anemia.</strong>
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Rev. Clin. Exp. Hemat. 4: 236-239, 2000.
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Cassandra L. Kniffin - updated : 11/01/2016<br>Cassandra L. Kniffin - updated : 2/25/2008<br>Cassandra L. Kniffin - updated : 9/20/2007<br>Marla J. F. O'Neill - updated : 4/29/2005<br>Victor A. McKusick - updated : 4/11/2005
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Victor A. McKusick : 1/4/2005
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carol : 11/02/2016<br>carol : 11/01/2016<br>ckniffin : 10/25/2016<br>carol : 08/06/2012<br>ckniffin : 7/26/2012<br>wwang : 6/25/2009<br>mgross : 10/15/2008<br>wwang : 3/5/2008<br>ckniffin : 2/25/2008<br>wwang : 9/25/2007<br>ckniffin : 9/20/2007<br>wwang : 4/29/2005<br>wwang : 4/28/2005<br>wwang : 4/20/2005<br>terry : 4/11/2005<br>tkritzer : 1/4/2005<br>carol : 1/4/2005
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