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<title>
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Entry
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- #145680 - HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH
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- OMIM
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<span class="h4">#145680</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/145680"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</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=(HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC) OR (TTR)" 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=29871&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.diseaseinfosearch.org/x/8287" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=145680[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=597939" 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:0080219" 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/145680" 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:0080219" 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>
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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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</span>
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<a id="title" class="mim-anchor"></a>
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<a id="number" 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>ORPHA:</strong> 597939<br />
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<strong>DO:</strong> 0080219<br />
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">ICD+</a>
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<div>
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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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145680
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</span>
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</span>
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</div>
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<div>
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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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HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH
|
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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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<a id="alternativeTitles" 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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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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HYPERTHYROXINEMIA, DYSPREALBUMINEMIC<br />
|
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DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA<br />
|
|
EUTHRYROIDAL HYPERTHYROXINEMIA 2
|
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</span>
|
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</h4>
|
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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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<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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Inheritance
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<a href="/geneMap/18/119?start=-3&limit=10&highlight=119">
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18q12.1
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<span class="mim-font">
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[Dystransthyretinemic hyperthyroxinemia]
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<span class="mim-font">
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<a href="/entry/145680"> 145680 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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TTR
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<a href="/entry/176300"> 176300 </a>
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<li><a href="/graph/linear/145680" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/145680" 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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<strong> Endocrine </strong>
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- Euthyroid <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/264521008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">264521008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0117002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0117002</a>]</span><br />
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- Hyperthyroxinemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020551</a>]</span><br />
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<strong> Inheritance </strong>
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because dystransthyretinemic hyperthyroxinemia (DTTRH) is caused by heterozygous mutation in the TTR gene (<a href="/entry/176300">176300</a>) on chromosome 18q12.</p>
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<strong>Description</strong>
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<p>Dystransthyretinemic hyperthyroxinemia (DTTRH) is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals (summary by <a href="#4" class="mim-tip-reference" title="Moses, A. C., Rosen, H. N., Moller, D. E., Tsuzaki, S., Haddow, J. E., Lawlor, J., Liepnieks, J. J., Nichols, W. C., Benson, M. D. <strong>A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.</strong> J. Clin. Invest. 86: 2025-2033, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1979335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1979335</a>] [<a href="https://doi.org/10.1172/JCI114938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1979335">Moses et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1979335" 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>Clinical Features</strong>
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<p><a href="#2" class="mim-tip-reference" title="Maxon, H. R., Burman, K. D., Premachandra, B. N., Chen, I.-W., Burger, A., Levy, P., Georges, L. P. <strong>Familial elevations of total and free thyroxine in healthy, euthyroid subjects without detectable binding protein abnormalities.</strong> Acta Endocr. 100: 224-230, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6287778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6287778</a>] [<a href="https://doi.org/10.1530/acta.0.1000224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6287778">Maxon et al. (1982)</a> described familial elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities. They interpreted this as representing an elevated threshold for the amount of free thyroxine substrate required to maintain adequate T3 production from the peripheral monodeiodination of T4. Family studies supported autosomal dominant inheritance; male-to-male transmission was noted. Other forms of peripheral resistance to thyroid hormone with euthyroidism and hyperthyroxinemia appear to have a defect in the nuclear receptor for thyroid hormone (see <a href="/entry/274300">274300</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6287778" 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="#3" class="mim-tip-reference" title="Moses, A. C., Lawlor, J., Haddow, J., Jackson, I. M. D. <strong>Familial euthyroid hyperthyroxinemia resulting from increased thyroxine binding to thyroxine-binding prealbumin.</strong> New Eng. J. Med. 306: 966-969, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6801514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6801514</a>] [<a href="https://doi.org/10.1056/NEJM198204223061605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6801514">Moses et al. (1982)</a> reported a family in which 2 euthyroid persons had an elevated total T4, an elevated or normal T3 resin uptake, and an increased free T4 index. Free T4 and total and free T3 concentrations were normal. This abnormality was secondary to increased binding of T4 to immunoreactive thyroxine-binding prealbumin (transthyretin). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6801514" 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="Lalloz, M. R. A., Byfield, P. G. H., Goel, K. M., Loudon, M. M., Thomson, J. A., Himsworth, R. L. <strong>Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family.</strong> J. Clin. Endocr. Metab. 64: 346-352, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3098776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3098776</a>] [<a href="https://doi.org/10.1210/jcem-64-2-346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3098776">Lalloz et al. (1987)</a> reported an extraordinary family in which 2 separately inherited abnormal T4 transport proteins were found. The proband, a girl aged 15 years at the time of investigation (the authors referred to her as the propositus), had both variant prealbumin and variant albumin (<a href="/entry/103600">103600</a>), as did her 2 sisters. The mother had only the abnormal albumin and the father had only the variant prealbumin. By methods combining immunodetection with isoelectric focusing, <a href="#6" class="mim-tip-reference" title="Whitehouse, D. B., Hopkinson, D. A., Hill, A. V. S., Bowden, D. K. <strong>Analysis of genetic variation in two human thyroxine-binding plasma proteins by immunodetection after isoelectric focusing.</strong> Ann. Hum. Genet. 49: 259-262, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3935040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3935040</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1985.tb01701.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3935040">Whitehouse et al. (1985)</a> found few variants in thyroxine-binding prealbumin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3098776+3935040" 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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<p>The transmission pattern of DTTRH in the families reported by <a href="#4" class="mim-tip-reference" title="Moses, A. C., Rosen, H. N., Moller, D. E., Tsuzaki, S., Haddow, J. E., Lawlor, J., Liepnieks, J. J., Nichols, W. C., Benson, M. D. <strong>A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.</strong> J. Clin. Invest. 86: 2025-2033, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1979335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1979335</a>] [<a href="https://doi.org/10.1172/JCI114938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1979335">Moses et al. (1990)</a> and <a href="#5" class="mim-tip-reference" title="Refetoff, S., Marinov, V. S. Z., Tunca, H., Byrne, M. M., Sunthornthepvarak ul, T., Weiss, R. E. <strong>A new family with hyperthyroxinemia caused by transthyretin val-109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.</strong> J. Clin. Endocr. Metab. 81: 3335-3340, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8784093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8784093</a>] [<a href="https://doi.org/10.1210/jcem.81.9.8784093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8784093">Refetoff et al. (1996)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8784093+1979335" 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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<p>In a family studied by <a href="#3" class="mim-tip-reference" title="Moses, A. C., Lawlor, J., Haddow, J., Jackson, I. M. D. <strong>Familial euthyroid hyperthyroxinemia resulting from increased thyroxine binding to thyroxine-binding prealbumin.</strong> New Eng. J. Med. 306: 966-969, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6801514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6801514</a>] [<a href="https://doi.org/10.1056/NEJM198204223061605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6801514">Moses et al. (1982)</a> with euthyroid hyperthyroxinemia, <a href="#4" class="mim-tip-reference" title="Moses, A. C., Rosen, H. N., Moller, D. E., Tsuzaki, S., Haddow, J. E., Lawlor, J., Liepnieks, J. J., Nichols, W. C., Benson, M. D. <strong>A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.</strong> J. Clin. Invest. 86: 2025-2033, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1979335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1979335</a>] [<a href="https://doi.org/10.1172/JCI114938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1979335">Moses et al. (1990)</a> detected heterozygosity for a missense mutation in exon 4 of the TTR gene (<a href="/entry/176300#0015">176300.0015</a>). <a href="#5" class="mim-tip-reference" title="Refetoff, S., Marinov, V. S. Z., Tunca, H., Byrne, M. M., Sunthornthepvarak ul, T., Weiss, R. E. <strong>A new family with hyperthyroxinemia caused by transthyretin val-109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.</strong> J. Clin. Endocr. Metab. 81: 3335-3340, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8784093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8784093</a>] [<a href="https://doi.org/10.1210/jcem.81.9.8784093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8784093">Refetoff et al. (1996)</a> (see <a href="/entry/176300#0038">176300.0038</a>) and others reported similar findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8784093+1979335+6801514" 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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<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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<a id="1" class="mim-anchor"></a>
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<a id="Lalloz1987" class="mim-anchor"></a>
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Lalloz, M. R. A., Byfield, P. G. H., Goel, K. M., Loudon, M. M., Thomson, J. A., Himsworth, R. L.
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<strong>Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family.</strong>
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J. Clin. Endocr. Metab. 64: 346-352, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3098776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3098776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3098776" 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/10.1210/jcem-64-2-346" target="_blank">Full Text</a>]
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<a id="Maxon1982" class="mim-anchor"></a>
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Maxon, H. R., Burman, K. D., Premachandra, B. N., Chen, I.-W., Burger, A., Levy, P., Georges, L. P.
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<strong>Familial elevations of total and free thyroxine in healthy, euthyroid subjects without detectable binding protein abnormalities.</strong>
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Acta Endocr. 100: 224-230, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6287778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6287778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6287778" 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/10.1530/acta.0.1000224" target="_blank">Full Text</a>]
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<a id="Moses1982" class="mim-anchor"></a>
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<p class="mim-text-font">
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Moses, A. C., Lawlor, J., Haddow, J., Jackson, I. M. D.
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<strong>Familial euthyroid hyperthyroxinemia resulting from increased thyroxine binding to thyroxine-binding prealbumin.</strong>
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New Eng. J. Med. 306: 966-969, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6801514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6801514</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6801514" 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/10.1056/NEJM198204223061605" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Moses1990" class="mim-anchor"></a>
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<p class="mim-text-font">
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Moses, A. C., Rosen, H. N., Moller, D. E., Tsuzaki, S., Haddow, J. E., Lawlor, J., Liepnieks, J. J., Nichols, W. C., Benson, M. D.
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<strong>A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.</strong>
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J. Clin. Invest. 86: 2025-2033, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1979335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1979335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1979335" 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/10.1172/JCI114938" target="_blank">Full Text</a>]
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<a id="Refetoff1996" class="mim-anchor"></a>
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<p class="mim-text-font">
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Refetoff, S., Marinov, V. S. Z., Tunca, H., Byrne, M. M., Sunthornthepvarak ul, T., Weiss, R. E.
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<strong>A new family with hyperthyroxinemia caused by transthyretin val-109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.</strong>
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J. Clin. Endocr. Metab. 81: 3335-3340, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8784093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8784093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8784093" 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/10.1210/jcem.81.9.8784093" target="_blank">Full Text</a>]
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Whitehouse, D. B., Hopkinson, D. A., Hill, A. V. S., Bowden, D. K.
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<strong>Analysis of genetic variation in two human thyroxine-binding plasma proteins by immunodetection after isoelectric focusing.</strong>
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Ann. Hum. Genet. 49: 259-262, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3935040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3935040</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3935040" 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.1469-1809.1985.tb01701.x" target="_blank">Full Text</a>]
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Creation Date:
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Victor A. McKusick : 6/2/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 09/28/2023
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carol : 09/10/2014<br>alopez : 3/5/2012<br>alopez : 2/18/2010<br>carol : 3/18/2004<br>mimadm : 9/24/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 6/2/1986
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<strong>#</strong> 145680
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HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH
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HYPERTHYROXINEMIA, DYSPREALBUMINEMIC<br />
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DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA<br />
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EUTHRYROIDAL HYPERTHYROXINEMIA 2
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<strong>ORPHA:</strong> 597939;
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<strong>DO:</strong> 0080219;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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18q12.1
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<span class="mim-font">
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[Dystransthyretinemic hyperthyroxinemia]
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145680
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Autosomal dominant
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3
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TTR
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176300
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because dystransthyretinemic hyperthyroxinemia (DTTRH) is caused by heterozygous mutation in the TTR gene (176300) on chromosome 18q12.</p>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Dystransthyretinemic hyperthyroxinemia (DTTRH) is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals (summary by Moses et al., 1990). </p>
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<strong>Clinical Features</strong>
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<p>Maxon et al. (1982) described familial elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities. They interpreted this as representing an elevated threshold for the amount of free thyroxine substrate required to maintain adequate T3 production from the peripheral monodeiodination of T4. Family studies supported autosomal dominant inheritance; male-to-male transmission was noted. Other forms of peripheral resistance to thyroid hormone with euthyroidism and hyperthyroxinemia appear to have a defect in the nuclear receptor for thyroid hormone (see 274300). </p><p>Moses et al. (1982) reported a family in which 2 euthyroid persons had an elevated total T4, an elevated or normal T3 resin uptake, and an increased free T4 index. Free T4 and total and free T3 concentrations were normal. This abnormality was secondary to increased binding of T4 to immunoreactive thyroxine-binding prealbumin (transthyretin). </p><p>Lalloz et al. (1987) reported an extraordinary family in which 2 separately inherited abnormal T4 transport proteins were found. The proband, a girl aged 15 years at the time of investigation (the authors referred to her as the propositus), had both variant prealbumin and variant albumin (103600), as did her 2 sisters. The mother had only the abnormal albumin and the father had only the variant prealbumin. By methods combining immunodetection with isoelectric focusing, Whitehouse et al. (1985) found few variants in thyroxine-binding prealbumin. </p>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of DTTRH in the families reported by Moses et al. (1990) and Refetoff et al. (1996) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In a family studied by Moses et al. (1982) with euthyroid hyperthyroxinemia, Moses et al. (1990) detected heterozygosity for a missense mutation in exon 4 of the TTR gene (176300.0015). Refetoff et al. (1996) (see 176300.0038) and others reported similar findings. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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<ol>
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<li>
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<p class="mim-text-font">
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Lalloz, M. R. A., Byfield, P. G. H., Goel, K. M., Loudon, M. M., Thomson, J. A., Himsworth, R. L.
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<strong>Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family.</strong>
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J. Clin. Endocr. Metab. 64: 346-352, 1987.
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[PubMed: 3098776]
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[Full Text: https://doi.org/10.1210/jcem-64-2-346]
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<li>
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Maxon, H. R., Burman, K. D., Premachandra, B. N., Chen, I.-W., Burger, A., Levy, P., Georges, L. P.
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<strong>Familial elevations of total and free thyroxine in healthy, euthyroid subjects without detectable binding protein abnormalities.</strong>
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Acta Endocr. 100: 224-230, 1982.
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[PubMed: 6287778]
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[Full Text: https://doi.org/10.1530/acta.0.1000224]
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</li>
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<li>
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<p class="mim-text-font">
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Moses, A. C., Lawlor, J., Haddow, J., Jackson, I. M. D.
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<strong>Familial euthyroid hyperthyroxinemia resulting from increased thyroxine binding to thyroxine-binding prealbumin.</strong>
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New Eng. J. Med. 306: 966-969, 1982.
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[PubMed: 6801514]
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[Full Text: https://doi.org/10.1056/NEJM198204223061605]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Moses, A. C., Rosen, H. N., Moller, D. E., Tsuzaki, S., Haddow, J. E., Lawlor, J., Liepnieks, J. J., Nichols, W. C., Benson, M. D.
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<strong>A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.</strong>
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J. Clin. Invest. 86: 2025-2033, 1990.
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[PubMed: 1979335]
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[Full Text: https://doi.org/10.1172/JCI114938]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Refetoff, S., Marinov, V. S. Z., Tunca, H., Byrne, M. M., Sunthornthepvarak ul, T., Weiss, R. E.
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<strong>A new family with hyperthyroxinemia caused by transthyretin val-109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.</strong>
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J. Clin. Endocr. Metab. 81: 3335-3340, 1996.
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[PubMed: 8784093]
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[Full Text: https://doi.org/10.1210/jcem.81.9.8784093]
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</p>
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</li>
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<p class="mim-text-font">
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Whitehouse, D. B., Hopkinson, D. A., Hill, A. V. S., Bowden, D. K.
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<strong>Analysis of genetic variation in two human thyroxine-binding plasma proteins by immunodetection after isoelectric focusing.</strong>
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Ann. Hum. Genet. 49: 259-262, 1985.
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[PubMed: 3935040]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1985.tb01701.x]
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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