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Entry
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- 231100 - HEMOCHROMATOSIS, NEONATAL
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- OMIM
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<p>
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<span class="h4">231100</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="/clinicalSynopsis/231100"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</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="#pathogenesis">Pathogenesis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=HEMOCHROMATOSIS, NEONATAL" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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=504&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/5131" 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.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=446" 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="http://www.informatics.jax.org/disease/231100" 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://omia.org/OMIA000428/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:2352" 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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<div style="display: table-cell;">Cell Lines</div>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:231100" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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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<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> 6160004<br />
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<strong>ICD10CM:</strong> P78.84<br />
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<strong>ORPHA:</strong> 446<br />
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<strong>DO:</strong> 2352<br />
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">ICD+</a>
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<span class="mim-font mim-tip-hint" title="Other, mainly phenotypes with suspected mendelian basis">
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231100
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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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HEMOCHROMATOSIS, NEONATAL
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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NH<br />
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NHC<br />
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ALLOIMMUNE HEPATITIS, CONGENITAL<br />
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NEONATAL HEPATITIS, FORMERLY<br />
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GIANT CELL HEPATITIS, FORMERLY
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<br />
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<a href="/clinicalSynopsis/231100" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<strong> INHERITANCE </strong>
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intrauterine growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Myocardial iron deposition <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856462&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856462</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cirrhosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a>, <a href="https://bioportal.bioontology.org/search?q=C1623038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1623038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span><br /> -
|
|
Hepatic failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59927004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59927004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K72.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001399" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001399</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001399" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001399</a>]</span><br /> -
|
|
Iron deposition in hepatocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856458</a>]</span><br /> -
|
|
Hepatic fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62484002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62484002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span><br /> -
|
|
Cholestasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30144000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30144000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33688009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33688009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197446008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197446008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K83.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K83.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/576.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">576.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008370&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008370</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001396</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001396</a>]</span><br /> -
|
|
Hepatocellular necrosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001404</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001404</a>]</span><br /> -
|
|
Giant cell transformation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856459</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pancreas </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Iron deposition in acinar cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856460</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Iron deposition in renal tubular cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856456</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Jaundice, neonatal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/387712008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">387712008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P59.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P59.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006579</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006579</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Endocrine glands with iron deposition <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856455&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856455</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Bleeding diathesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64779008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64779008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/362970003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">362970003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248250000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248250000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D68.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D68.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">286</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005779</a>, <a href="https://bioportal.bioontology.org/search?q=C1458140&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1458140</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001892</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001928" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001928</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001892</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Extrahepatic reticuloendothelial system spared <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856461&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856461</a>]</span><br />
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<span class="h5 mim-font">
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<strong> PRENATAL MANIFESTATIONS </strong>
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<div style="margin-left: 2em;">
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<em> Amniotic Fluid </em>
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<span class="mim-font">
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- Nonimmune hydrops <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276509008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276509008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/206538000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">206538000</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/778.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">778.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0455988&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0455988</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001790</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001790</a>]</span><br /> -
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Oligohydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59566000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59566000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O41.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O41.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/O41.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O41.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/658.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">658.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0079924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001562" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001562</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001562" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001562</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Increased serum iron <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165624002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165624002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151900</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003452" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003452</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003452" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003452</a>]</span><br /> -
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Increased transferrin saturation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0919786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0919786</a>]</span><br /> -
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Increased ferritin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0743912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0743912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003281</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003281</a>]</span><br /> -
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Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in utero or at birth<br /> -
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Rapid progression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span><br /> -
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Death usually in newborn period or infancy<br />
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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>Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (<a href="#4" class="mim-tip-reference" title="Driscoll, S. G., Hayes, A. M., Levy, H. L. <strong>Neonatal hemochromatosis: evidence for autosomal recessive transmission. (Abstract)</strong> Am. J. Hum. Genet. 43: A232 only, 1988."None>Driscoll et al., 1988</a>).</p><p><a href="#18" class="mim-tip-reference" title="Whitington, P. F. <strong>Neonatal hemochromatosis: a congenital alloimmune hepatitis.</strong> Semin. Liver Dis. 27: 243-250, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17682971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17682971</a>] [<a href="https://doi.org/10.1055/s-2007-985069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17682971">Whitington (2007)</a> postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., <a href="/entry/235200">235200</a>). <a href="#18" class="mim-tip-reference" title="Whitington, P. F. <strong>Neonatal hemochromatosis: a congenital alloimmune hepatitis.</strong> Semin. Liver Dis. 27: 243-250, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17682971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17682971</a>] [<a href="https://doi.org/10.1055/s-2007-985069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17682971">Whitington (2007)</a> proposed the term 'congenital alloimmune hepatitis.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17682971" 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 the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (<a href="#5" class="mim-tip-reference" title="Fawaz, J. A., Grady, G. F., Kaplan, M. M., Gellis, S. S. <strong>Repetitive maternal-fetal transmission of fetal hepatitis B.</strong> New Eng. J. Med. 293: 1357-1359, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1186838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1186838</a>] [<a href="https://doi.org/10.1056/NEJM197512252932608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1186838">Fawaz et al., 1975</a>; <a href="#10" class="mim-tip-reference" title="Knisely, A. S., Magid, M. S., Dische, M. R., Cutz, E. <strong>Neonatal hemochromatosis.</strong> Birth Defects Orig. Art. Ser. XXIII: 75-102, 1987."None>Knisely et al., 1987</a>; <a href="#8" class="mim-tip-reference" title="Kelly, A. L., Lunt, P. W., Rodrigues, F., Berry, P. J., Flynn, D. M., McKiernan, P. J., Kelly, D. A., Mieli-Vergani, G., Cox, T. M. <strong>Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.</strong> J. Med. Genet. 38: 599-610, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11546828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11546828</a>] [<a href="https://doi.org/10.1136/jmg.38.9.599" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11546828">Kelly et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11546828+1186838" 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="#10" class="mim-tip-reference" title="Knisely, A. S., Magid, M. S., Dische, M. R., Cutz, E. <strong>Neonatal hemochromatosis.</strong> Birth Defects Orig. Art. Ser. XXIII: 75-102, 1987."None>Knisely et al. (1987)</a> reviewed reported cases of neonatal hemochromatosis, applying rigid criteria as follows: a rapidly progressive clinical course with death in utero or in the early neonatal period; increased tissue iron deposition in multiple sites, particularly in the liver, pancreas, heart, and endocrine glands, with the extrahepatic reticuloendothelial system relatively unaffected; and no evidence for hemolytic disease, syndromes associated with hemosiderosis, or exogenous iron overload from transfusions. Both parents of 1 patient reported by <a href="#10" class="mim-tip-reference" title="Knisely, A. S., Magid, M. S., Dische, M. R., Cutz, E. <strong>Neonatal hemochromatosis.</strong> Birth Defects Orig. Art. Ser. XXIII: 75-102, 1987."None>Knisely et al. (1987)</a> had high levels of serum iron and total iron-binding capacity. <a href="#10" class="mim-tip-reference" title="Knisely, A. S., Magid, M. S., Dische, M. R., Cutz, E. <strong>Neonatal hemochromatosis.</strong> Birth Defects Orig. Art. Ser. XXIII: 75-102, 1987."None>Knisely et al. (1987)</a> concluded that the available data argued against the suggestion that neonatal hemochromatosis is caused by primary placental hyperabsorption of iron. A bleeding diathesis is often observed. The authors suggested that neonatal hemochromatosis is one of several entities causing the heterogeneous category of disorders often termed giant cell hepatitis, because of pathologic liver findings.</p><p><a href="#4" class="mim-tip-reference" title="Driscoll, S. G., Hayes, A. M., Levy, H. L. <strong>Neonatal hemochromatosis: evidence for autosomal recessive transmission. (Abstract)</strong> Am. J. Hum. Genet. 43: A232 only, 1988."None>Driscoll et al. (1988)</a> reported 4 cases of NH in 2 families. All patients presented at birth, and the clinical course was characterized by hypoglycemia, hemorrhagic diathesis, and fatal renal and hepatic failure. Postmortem examination showed hepatic fibrosis with a distinctive pattern of iron distribution in the hepatocytes, pancreatic acinar cells, and myocardium. In 1 family, both parents had normal levels of serum iron, iron binding capacity, transferrin, and ferritin levels, but had persistently abnormal liver function tests, which the authors suggested was consistent with mild expressivity of a heterozygous state. In that same family, neither parent nor their 1 infant had the HLA types associated with hereditary hemochromatosis (<a href="/entry/235200">235200</a>). <a href="#4" class="mim-tip-reference" title="Driscoll, S. G., Hayes, A. M., Levy, H. L. <strong>Neonatal hemochromatosis: evidence for autosomal recessive transmission. (Abstract)</strong> Am. J. Hum. Genet. 43: A232 only, 1988."None>Driscoll et al. (1988)</a> concluded that NH is an autosomal recessive disorder, and postulated that the combination of expressed maternal heterozygosity and fetal homozygosity produced enhanced iron transport across the placenta, resulting in a marked increase in iron deposition in certain fetal tissues. The authors noted that the clinical course and pathologic findings are distinct from those of Zellweger syndrome (see <a href="/entry/214100">214100</a>), hereditary tyrosinemia (<a href="/entry/276700">276700</a>), and leprechaunism (<a href="/entry/246200">246200</a>), in which hepatic siderosis is also seen.</p><p><a href="#2" class="mim-tip-reference" title="Dalhoj, J., Kiaer, H., Wiggers, P., Grady, R. W., Jones, R. L., Knisely, A. S. <strong>Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up.</strong> Am. J. Med. Genet. 37: 342-345, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260562</a>] [<a href="https://doi.org/10.1002/ajmg.1320370310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2260562">Dalhoj et al. (1990)</a> provided a 30-year follow-up of a Danish family reported by <a href="#9" class="mim-tip-reference" title="Kler, W., Olesen, M. <strong>Hepatitis foetalis med perinatal exitus letalis hos 4 soskende.</strong> Ugeskr. Laeger 118: 868-872, 1956."None>Kler and Olesen (1956)</a> in which 6 of 9 sibs had died in utero or neonatally as a result of this disorder. No evidence of hereditary hemochromatosis or other iron storage disease was found in the parents or surviving sibs. Neonatal hemochromatosis also occurs as part of the neonatal lupus erythematosus syndrome, associated with maternal anti-Ro/SS-A (<a href="/entry/109092">109092</a>) and anti-Ro/SS-B (<a href="/entry/109090">109090</a>) autoantibodies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2260562" 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="#12" class="mim-tip-reference" title="Moerman, P., Pauwels, P., Vandenberghe, K., Devlieger, H., Fryns, J. P., Verresen, H., Jaeken, J., Lauweryns, J., Eggermont, E. <strong>Neonatal haemochromatosis.</strong> Histopathology 17: 345-351, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2258173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2258173</a>] [<a href="https://doi.org/10.1111/j.1365-2559.1990.tb00739.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2258173">Moerman et al. (1990)</a> reported 4 cases of neonatal hemochromatosis presenting as fulminant hepatic failure. Postmortem examination showed excessive iron deposition in hepatocytes, diffuse hepatic cirrhosis, hepatocellular necrosis, cholestasis, and giant cell transformation. No hemosiderin was detected in the extrahepatic mononuclear-phagocytic cells of the spleen, lymph nodes, or bone marrow. Fetal liver disease had its onset in the late second trimester of pregnancy and was reflected by severe panhypoproteinemia with non-immune hydrops. Hyperbilirubinemia and hemorrhagic diatheses were apparent in the newborns. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2258173" 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="#8" class="mim-tip-reference" title="Kelly, A. L., Lunt, P. W., Rodrigues, F., Berry, P. J., Flynn, D. M., McKiernan, P. J., Kelly, D. A., Mieli-Vergani, G., Cox, T. M. <strong>Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.</strong> J. Med. Genet. 38: 599-610, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11546828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11546828</a>] [<a href="https://doi.org/10.1136/jmg.38.9.599" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11546828">Kelly et al. (2001)</a> reported 40 infants with neonatal hemochromatosis from 27 families. The most common presenting features were jaundice, hypoglycemia, and hepatic failure. Laboratory studies showed high serum ferritin and high transferrin saturation (80-90%). Postmortem examination in several patients showed fibrosis with cirrhosis, giant cell transformation, marked iron deposition in hepatocytes, and hepatocelluar necrosis with cholestasis, as well as extensive iron deposition in the myocardium, pancreatic acinar cells, and renal tubules. Thirty of the patients had died at the time of the report. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11546828" 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="#14" class="mim-tip-reference" title="Shneider, B. L., Setchell, K. D. R., Whitington, P. F., Neilson, K. A., Suchy, F. J. <strong>Delta-4-3-oxosteroid 5-beta-reductase deficiency causing neonatal liver failure and hemochromatosis.</strong> J. Pediat. 124: 234-238, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8301429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8301429</a>] [<a href="https://doi.org/10.1016/s0022-3476(94)70310-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8301429">Shneider et al. (1994)</a> and <a href="#15" class="mim-tip-reference" title="Siafakas, C. G., Jonas, M. M., Perez-Atayde, A. R. <strong>Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis.</strong> J. Pediat. Gastroent. Nutr. 25: 321-326, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9285385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9285385</a>] [<a href="https://doi.org/10.1097/00005176-199709000-00015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9285385">Siafakas et al. (1997)</a> reported a total of 5 infants with delta-4-3-oxosteroid 5-beta-reductase deficiency (<a href="/entry/235555">235555</a>) who also had neonatal hemochromatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9285385+8301429" 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 a detailed review of neonatal hemochromatosis, <a href="#18" class="mim-tip-reference" title="Whitington, P. F. <strong>Neonatal hemochromatosis: a congenital alloimmune hepatitis.</strong> Semin. Liver Dis. 27: 243-250, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17682971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17682971</a>] [<a href="https://doi.org/10.1055/s-2007-985069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17682971">Whitington (2007)</a> noted that liver disease is generally apparent within hours of birth and is one of the most commonly recognized causes of liver failure in the neonate. In rare cases, the liver disease takes a prolonged course and is manifest days to weeks after birth. Late-second and third trimester fetal loss is also commonly observed in the gestational histories of women who have had a baby with NH. Most affected liveborn babies show evidence of fetal insult, such as intrauterine growth restriction and oligohydramnios, and premature birth is common. The presenting clinical features include hypoglycemia, marked coagulopathy, hypoalbuminemia and edema with or without ascites, oliguria, jaundice, and increased serum conjugated and nonconjugated bilirubin. Pathology shows severe liver injury that is out of proportion to that seen in other forms of hemochromatosis. There is cirrhosis and fibrosis, particularly in the lobule and around the central vein, and coarsely granular siderosis. Regenerative nodules may be present. In some instances, almost no hepatocytes remain. The residual and/or regenerating hepatocytes may exhibit either giant cell or pseudoacinar transformation with canalicular bile plugs. Siderosis may affect any of several tissues outside the liver. The prognosis in severe NH is generally very poor, with an average life expectancy of days to a few weeks. There is a very high risk of recurrence in subsequent offspring of an affected woman. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17682971" 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><a href="#6" class="mim-tip-reference" title="Fienberg, R. <strong>Perinatal idiopathic hemochromatosis: giant cell hepatitis interpreted as an inborn error of metabolism.</strong> Am. J. Clin. Path. 33: 480-491, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13822700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13822700</a>] [<a href="https://doi.org/10.1093/ajcp/33.6.480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13822700">Fienberg (1960)</a> reported 2 pairs of male sibs with perinatal idiopathic hemochromatosis with giant cell hepatitis, and <a href="#11" class="mim-tip-reference" title="Laurendeau, T., Hill, J. E., Manning, G. B. <strong>Idiopathic neonatal hemochromatosis in siblings: an inborn error of metabolism.</strong> Arch. Path. 72: 410-423, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14462830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14462830</a>]" pmid="14462830">Laurendeau et al. (1961)</a> observed 2 affected sisters, both reports suggesting autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13822700+14462830" 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="#13" class="mim-tip-reference" title="Schoenlebe, J., Buyon, J. P., Zitelli, B. J., Friedman, D., Greco, M. A., Knisely, A. S. <strong>Neonatal hemochromatosis associated with maternal autoantibodies against Ro/SS-A and La/SS-B ribonucleoproteins.</strong> Am. J. Dis. Child. 147: 1072-1075, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213678</a>] [<a href="https://doi.org/10.1001/archpedi.1993.02160340058014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8213678">Schoenlebe et al. (1993)</a> reported an experience indicating that neonatal hemochromatosis, also known as perinatal hemochromatosis or neonatal iron storage disease, can occur as part of neonatal lupus erythematosus syndrome (see <a href="/entry/152700">152700</a>) associated with maternal anti-Ro/SSA (see <a href="/entry/109092">109092</a>) and anti-La/SSB (<a href="/entry/109090">109090</a>) autoantibodies. They reported a 6-week-old girl with neonatal hemochromatosis whose mother had these autoantibodies associated with Sjogren syndrome (see <a href="/entry/270150">270150</a>); an older child had congenital heart block. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8213678" 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="#16" class="mim-tip-reference" title="Verloes, A., Temple, I. K., Hubert, A.-F., Hope, P., Gould, S., Debauche, C., Verellen, G., Deville, J.-L., Koulischer, L., Sokal, E. M. <strong>Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.</strong> J. Med. Genet. 33: 444-449, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8782042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8782042</a>] [<a href="https://doi.org/10.1136/jmg.33.6.444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8782042">Verloes et al. (1996)</a> reported 2 families in which neonatal hemochromatosis was observed in half sibs. In the first family, 2 successive girls were born of different fathers. In a second family, an affected brother and sister were followed by an affected half brother born after donor insemination. These observations, as well as a previous abstract describing 2 affected half sisters, revived a debate over the inheritance of neonatal hemochromatosis and suggested causation by a maternal factor. <a href="#16" class="mim-tip-reference" title="Verloes, A., Temple, I. K., Hubert, A.-F., Hope, P., Gould, S., Debauche, C., Verellen, G., Deville, J.-L., Koulischer, L., Sokal, E. M. <strong>Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.</strong> J. Med. Genet. 33: 444-449, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8782042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8782042</a>] [<a href="https://doi.org/10.1136/jmg.33.6.444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8782042">Verloes et al. (1996)</a> tabulated the reported familial cases of typical NH and noted that parental consanguinity was never mentioned. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8782042" 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="#8" class="mim-tip-reference" title="Kelly, A. L., Lunt, P. W., Rodrigues, F., Berry, P. J., Flynn, D. M., McKiernan, P. J., Kelly, D. A., Mieli-Vergani, G., Cox, T. M. <strong>Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.</strong> J. Med. Genet. 38: 599-610, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11546828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11546828</a>] [<a href="https://doi.org/10.1136/jmg.38.9.599" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11546828">Kelly et al. (2001)</a> studied 40 infants from 27 families with neonatal hemochromatosis. Four pedigrees had clear evidence of neonatal hemochromatosis associated with maternal infection, including coxsackievirus, E. coli bacteremia and candidiasis, Staphylococcus aureus, and Herpes simplex virus and candidiasis. One pedigree showed transmission of maternal antinuclear factor and ribonucleoprotein antibodies to the affected infants, and 2 families showed possible matrilineal inheritance of disease in maternal half sibs. Fourteen pedigrees included affected and unaffected infants, and a single pedigree had all 4 infants affected by the condition born to consanguineous but otherwise healthy parents. The authors suggested that these 14 pedigrees support autosomal recessive inheritance of this condition in at least some families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11546828" 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><a href="#18" class="mim-tip-reference" title="Whitington, P. F. <strong>Neonatal hemochromatosis: a congenital alloimmune hepatitis.</strong> Semin. Liver Dis. 27: 243-250, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17682971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17682971</a>] [<a href="https://doi.org/10.1055/s-2007-985069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17682971">Whitington (2007)</a> and <a href="#17" class="mim-tip-reference" title="Whitington, P. F., Kelly, S. <strong>Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin.</strong> Pediatrics 121: e1615-e1621, 2008. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18474533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18474533</a>] [<a href="https://doi.org/10.1542/peds.2007-3107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18474533">Whitington and Kelly (2008)</a> presented evidence that neonatal hemochromatosis is a gestational disease in which fetal liver injury leads to the phenotype in the neonate. The rate of recurrence of the disorder in human sibs after the index case is 60 to 80%, suggesting maternal alloimmunity against the fetal liver. Preliminary studies found that pregnant mice injected with human IgG from women whose babies had NH had pups with extensive hepatic injury and liver necrosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18474533+17682971" 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>Based on the hypothesis that neonatal hemochromatosis results from maternal alloimmunity, <a href="#17" class="mim-tip-reference" title="Whitington, P. F., Kelly, S. <strong>Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin.</strong> Pediatrics 121: e1615-e1621, 2008. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18474533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18474533</a>] [<a href="https://doi.org/10.1542/peds.2007-3107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18474533">Whitington and Kelly (2008)</a> treated 48 women with a history of having an affected fetus with IV Ig. The gestational histories of these women demonstrated the high risk of occurrence of neonatal hemochromatosis: 92% of at-risk pregnancies had resulted in intrauterine fetal demise, neonatal death, or liver failure necessitating transplant. In contrast, with IV Ig gestational therapy, 53 at-risk gestations resulted in 3 failures and 52 infants who survived intact with medical therapy alone. Two of the 3 failures were not related to NH; the remaining case was lost to follow-up. <a href="#17" class="mim-tip-reference" title="Whitington, P. F., Kelly, S. <strong>Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin.</strong> Pediatrics 121: e1615-e1621, 2008. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18474533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18474533</a>] [<a href="https://doi.org/10.1542/peds.2007-3107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18474533">Whitington and Kelly (2008)</a> concluded that most cases of neonatal hemochromatosis result from a gestational alloimmune disease and that the occurrence of severe neonatal hemochromatosis in at-risk pregnancies can be significantly reduced by treatment with high-dose intravenous Ig during gestation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18474533" 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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<a href="#7" class="mim-tip-reference" title="Hardy, L., Hansen, J. L., Kushner, J. P., Knisely, A. S. <strong>Neonatal hemochromatosis: genetic analysis of transferrin-receptor, H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class I region.</strong> Am. J. Path. 137: 149-153, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973598</a>]" pmid="1973598">Hardy et al. (1990)</a> sought evidence for major rearrangements or deletions at the HLA class I region and at 3 loci directly involved in iron metabolism (H- and L-apoferritin and the transferrin receptor) in neonatal hemochromatosis. In 10 affected probands and 26 first-degree relatives in a total of 13 kindreds, they found no evidence for major rearrangements or deletions in genes studied, and found no evidence for linkage of neonatal hemochromatosis to HLA serotypes. <a href="#7" class="mim-tip-reference" title="Hardy, L., Hansen, J. L., Kushner, J. P., Knisely, A. S. <strong>Neonatal hemochromatosis: genetic analysis of transferrin-receptor, H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class I region.</strong> Am. J. Path. 137: 149-153, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973598</a>]" pmid="1973598">Hardy et al. (1990)</a> concluded that whereas hereditary hemochromatosis and neonatal hemochromatosis are similar in their patterns of iron loading, they are not genetically related. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1973598" 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 several families with neonatal hemochromatosis, <a href="#8" class="mim-tip-reference" title="Kelly, A. L., Lunt, P. W., Rodrigues, F., Berry, P. J., Flynn, D. M., McKiernan, P. J., Kelly, D. A., Mieli-Vergani, G., Cox, T. M. <strong>Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.</strong> J. Med. Genet. 38: 599-610, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11546828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11546828</a>] [<a href="https://doi.org/10.1136/jmg.38.9.599" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11546828">Kelly et al. (2001)</a> carried out molecular analysis of the beta-2 microglobulin gene (<a href="/entry/109700">109700</a>), the HFE gene (<a href="/entry/613609">613609</a>), and the heme oxygenase-1 and -2 genes (<a href="/entry/141250">141250</a>; <a href="/entry/141251">141251</a>) and found no evidence of pathogenic mutations in any of these genes segregating with the disease phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11546828" 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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<a href="#Cassady1964" class="mim-tip-reference" title="Cassady, G., Morrison, A. B., Cohen, M. M. <strong>Familial 'giant-cell hepatitis' in infancy: clinical, pathologic, and genetic studies on a large family.</strong> Am. J. Dis. Child. 107: 456-469, 1964.">Cassady et al. (1964)</a>; <a href="#Danks1963" class="mim-tip-reference" title="Danks, D., Bodian, M. <strong>A genetic study of neonatal obstructive jaundice.</strong> Arch. Dis. Child. 38: 378-390, 1963.">Danks and Bodian (1963)</a>
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Cassady, G., Morrison, A. B., Cohen, M. M.
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<strong>Familial 'giant-cell hepatitis' in infancy: clinical, pathologic, and genetic studies on a large family.</strong>
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Am. J. Dis. Child. 107: 456-469, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14120410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14120410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14120410" 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/10.1001/archpedi.1964.02080060458005" target="_blank">Full Text</a>]
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Dalhoj, J., Kiaer, H., Wiggers, P., Grady, R. W., Jones, R. L., Knisely, A. S.
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<strong>Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up.</strong>
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Am. J. Med. Genet. 37: 342-345, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2260562" 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/10.1002/ajmg.1320370310" target="_blank">Full Text</a>]
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Danks, D., Bodian, M.
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<strong>A genetic study of neonatal obstructive jaundice.</strong>
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Arch. Dis. Child. 38: 378-390, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14058813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14058813</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14058813" 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/10.1136/adc.38.200.378" target="_blank">Full Text</a>]
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Driscoll, S. G., Hayes, A. M., Levy, H. L.
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<strong>Neonatal hemochromatosis: evidence for autosomal recessive transmission. (Abstract)</strong>
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Am. J. Hum. Genet. 43: A232 only, 1988.
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Fawaz, J. A., Grady, G. F., Kaplan, M. M., Gellis, S. S.
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New Eng. J. Med. 293: 1357-1359, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1186838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1186838</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1186838" 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/NEJM197512252932608" target="_blank">Full Text</a>]
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Fienberg, R.
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<strong>Perinatal idiopathic hemochromatosis: giant cell hepatitis interpreted as an inborn error of metabolism.</strong>
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Am. J. Clin. Path. 33: 480-491, 1960.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13822700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13822700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13822700" 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/10.1093/ajcp/33.6.480" target="_blank">Full Text</a>]
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Hardy, L., Hansen, J. L., Kushner, J. P., Knisely, A. S.
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<strong>Neonatal hemochromatosis: genetic analysis of transferrin-receptor, H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class I region.</strong>
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Am. J. Path. 137: 149-153, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973598</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1973598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kelly, A. L., Lunt, P. W., Rodrigues, F., Berry, P. J., Flynn, D. M., McKiernan, P. J., Kelly, D. A., Mieli-Vergani, G., Cox, T. M.
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<strong>Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.</strong>
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J. Med. Genet. 38: 599-610, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11546828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11546828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11546828" 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/10.1136/jmg.38.9.599" target="_blank">Full Text</a>]
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Kler, W., Olesen, M.
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<strong>Hepatitis foetalis med perinatal exitus letalis hos 4 soskende.</strong>
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Ugeskr. Laeger 118: 868-872, 1956.
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Knisely, A. S., Magid, M. S., Dische, M. R., Cutz, E.
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<strong>Neonatal hemochromatosis.</strong>
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Birth Defects Orig. Art. Ser. XXIII: 75-102, 1987.
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Laurendeau, T., Hill, J. E., Manning, G. B.
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<strong>Idiopathic neonatal hemochromatosis in siblings: an inborn error of metabolism.</strong>
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Arch. Path. 72: 410-423, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14462830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14462830</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14462830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Moerman, P., Pauwels, P., Vandenberghe, K., Devlieger, H., Fryns, J. P., Verresen, H., Jaeken, J., Lauweryns, J., Eggermont, E.
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<strong>Neonatal haemochromatosis.</strong>
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Histopathology 17: 345-351, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2258173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2258173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2258173" 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.1365-2559.1990.tb00739.x" target="_blank">Full Text</a>]
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Schoenlebe, J., Buyon, J. P., Zitelli, B. J., Friedman, D., Greco, M. A., Knisely, A. S.
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<strong>Neonatal hemochromatosis associated with maternal autoantibodies against Ro/SS-A and La/SS-B ribonucleoproteins.</strong>
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Am. J. Dis. Child. 147: 1072-1075, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8213678" 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/10.1001/archpedi.1993.02160340058014" target="_blank">Full Text</a>]
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Shneider, B. L., Setchell, K. D. R., Whitington, P. F., Neilson, K. A., Suchy, F. J.
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<strong>Delta-4-3-oxosteroid 5-beta-reductase deficiency causing neonatal liver failure and hemochromatosis.</strong>
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J. Pediat. 124: 234-238, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8301429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8301429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8301429" 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/s0022-3476(94)70310-8" target="_blank">Full Text</a>]
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Siafakas, C. G., Jonas, M. M., Perez-Atayde, A. R.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9285385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9285385</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9285385" 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/10.1097/00005176-199709000-00015" target="_blank">Full Text</a>]
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<a id="Verloes1996" class="mim-anchor"></a>
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Verloes, A., Temple, I. K., Hubert, A.-F., Hope, P., Gould, S., Debauche, C., Verellen, G., Deville, J.-L., Koulischer, L., Sokal, E. M.
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<strong>Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.</strong>
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J. Med. Genet. 33: 444-449, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8782042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8782042</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8782042" 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/10.1136/jmg.33.6.444" target="_blank">Full Text</a>]
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Whitington, P. F., Kelly, S.
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<strong>Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin.</strong>
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Pediatrics 121: e1615-e1621, 2008. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18474533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18474533</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18474533" 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/10.1542/peds.2007-3107" target="_blank">Full Text</a>]
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Whitington, P. F.
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<strong>Neonatal hemochromatosis: a congenital alloimmune hepatitis.</strong>
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Semin. Liver Dis. 27: 243-250, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17682971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17682971</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17682971" 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/10.1055/s-2007-985069" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 7/30/2008
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Victor A. McKusick - updated : 9/12/2006<br>Cassandra L. Kniffin - reorganized : 4/8/2004<br>Cassandra L. Kniffin - updated : 4/5/2004<br>Ada Hamosh - updated : 5/7/2003<br>Michael J. Wright - updated : 7/31/2002<br>Victor A. McKusick - updated : 11/17/1998<br>Victor A. McKusick - updated : 3/23/1998
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Victor A. McKusick : 6/3/1986
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alopez : 04/28/2023
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carol : 03/03/2022<br>carol : 12/06/2021<br>joanna : 07/05/2016<br>mcolton : 3/3/2015<br>alopez : 10/25/2012<br>carol : 10/21/2010<br>carol : 10/19/2010<br>mgross : 8/27/2008<br>wwang : 8/4/2008<br>ckniffin : 7/30/2008<br>carol : 10/2/2006<br>ckniffin : 9/25/2006<br>terry : 9/12/2006<br>terry : 2/16/2006<br>carol : 3/9/2005<br>carol : 4/8/2004<br>ckniffin : 4/5/2004<br>alopez : 5/8/2003<br>terry : 5/7/2003<br>cwells : 7/31/2002<br>terry : 7/31/2002<br>carol : 4/8/1999<br>terry : 11/18/1998<br>terry : 11/17/1998<br>alopez : 3/23/1998<br>terry : 2/26/1998<br>alopez : 7/31/1997<br>alopez : 7/10/1997<br>jason : 7/18/1994<br>davew : 7/11/1994<br>pfoster : 5/12/1994<br>terry : 5/2/1994<br>mimadm : 2/19/1994<br>carol : 12/22/1993
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HEMOCHROMATOSIS, NEONATAL
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NH<br />
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NHC<br />
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ALLOIMMUNE HEPATITIS, CONGENITAL<br />
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NEONATAL HEPATITIS, FORMERLY<br />
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GIANT CELL HEPATITIS, FORMERLY
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<strong>SNOMEDCT:</strong> 6160004;
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<strong>ICD10CM:</strong> P78.84;
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<strong>ORPHA:</strong> 446;
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<strong>DO:</strong> 2352;
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<p>Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988).</p><p>Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' </p><p>In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). </p>
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<p>Knisely et al. (1987) reviewed reported cases of neonatal hemochromatosis, applying rigid criteria as follows: a rapidly progressive clinical course with death in utero or in the early neonatal period; increased tissue iron deposition in multiple sites, particularly in the liver, pancreas, heart, and endocrine glands, with the extrahepatic reticuloendothelial system relatively unaffected; and no evidence for hemolytic disease, syndromes associated with hemosiderosis, or exogenous iron overload from transfusions. Both parents of 1 patient reported by Knisely et al. (1987) had high levels of serum iron and total iron-binding capacity. Knisely et al. (1987) concluded that the available data argued against the suggestion that neonatal hemochromatosis is caused by primary placental hyperabsorption of iron. A bleeding diathesis is often observed. The authors suggested that neonatal hemochromatosis is one of several entities causing the heterogeneous category of disorders often termed giant cell hepatitis, because of pathologic liver findings.</p><p>Driscoll et al. (1988) reported 4 cases of NH in 2 families. All patients presented at birth, and the clinical course was characterized by hypoglycemia, hemorrhagic diathesis, and fatal renal and hepatic failure. Postmortem examination showed hepatic fibrosis with a distinctive pattern of iron distribution in the hepatocytes, pancreatic acinar cells, and myocardium. In 1 family, both parents had normal levels of serum iron, iron binding capacity, transferrin, and ferritin levels, but had persistently abnormal liver function tests, which the authors suggested was consistent with mild expressivity of a heterozygous state. In that same family, neither parent nor their 1 infant had the HLA types associated with hereditary hemochromatosis (235200). Driscoll et al. (1988) concluded that NH is an autosomal recessive disorder, and postulated that the combination of expressed maternal heterozygosity and fetal homozygosity produced enhanced iron transport across the placenta, resulting in a marked increase in iron deposition in certain fetal tissues. The authors noted that the clinical course and pathologic findings are distinct from those of Zellweger syndrome (see 214100), hereditary tyrosinemia (276700), and leprechaunism (246200), in which hepatic siderosis is also seen.</p><p>Dalhoj et al. (1990) provided a 30-year follow-up of a Danish family reported by Kler and Olesen (1956) in which 6 of 9 sibs had died in utero or neonatally as a result of this disorder. No evidence of hereditary hemochromatosis or other iron storage disease was found in the parents or surviving sibs. Neonatal hemochromatosis also occurs as part of the neonatal lupus erythematosus syndrome, associated with maternal anti-Ro/SS-A (109092) and anti-Ro/SS-B (109090) autoantibodies. </p><p>Moerman et al. (1990) reported 4 cases of neonatal hemochromatosis presenting as fulminant hepatic failure. Postmortem examination showed excessive iron deposition in hepatocytes, diffuse hepatic cirrhosis, hepatocellular necrosis, cholestasis, and giant cell transformation. No hemosiderin was detected in the extrahepatic mononuclear-phagocytic cells of the spleen, lymph nodes, or bone marrow. Fetal liver disease had its onset in the late second trimester of pregnancy and was reflected by severe panhypoproteinemia with non-immune hydrops. Hyperbilirubinemia and hemorrhagic diatheses were apparent in the newborns. </p><p>Kelly et al. (2001) reported 40 infants with neonatal hemochromatosis from 27 families. The most common presenting features were jaundice, hypoglycemia, and hepatic failure. Laboratory studies showed high serum ferritin and high transferrin saturation (80-90%). Postmortem examination in several patients showed fibrosis with cirrhosis, giant cell transformation, marked iron deposition in hepatocytes, and hepatocelluar necrosis with cholestasis, as well as extensive iron deposition in the myocardium, pancreatic acinar cells, and renal tubules. Thirty of the patients had died at the time of the report. </p><p>Shneider et al. (1994) and Siafakas et al. (1997) reported a total of 5 infants with delta-4-3-oxosteroid 5-beta-reductase deficiency (235555) who also had neonatal hemochromatosis. </p><p>In a detailed review of neonatal hemochromatosis, Whitington (2007) noted that liver disease is generally apparent within hours of birth and is one of the most commonly recognized causes of liver failure in the neonate. In rare cases, the liver disease takes a prolonged course and is manifest days to weeks after birth. Late-second and third trimester fetal loss is also commonly observed in the gestational histories of women who have had a baby with NH. Most affected liveborn babies show evidence of fetal insult, such as intrauterine growth restriction and oligohydramnios, and premature birth is common. The presenting clinical features include hypoglycemia, marked coagulopathy, hypoalbuminemia and edema with or without ascites, oliguria, jaundice, and increased serum conjugated and nonconjugated bilirubin. Pathology shows severe liver injury that is out of proportion to that seen in other forms of hemochromatosis. There is cirrhosis and fibrosis, particularly in the lobule and around the central vein, and coarsely granular siderosis. Regenerative nodules may be present. In some instances, almost no hepatocytes remain. The residual and/or regenerating hepatocytes may exhibit either giant cell or pseudoacinar transformation with canalicular bile plugs. Siderosis may affect any of several tissues outside the liver. The prognosis in severe NH is generally very poor, with an average life expectancy of days to a few weeks. There is a very high risk of recurrence in subsequent offspring of an affected woman. </p>
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<p>Fienberg (1960) reported 2 pairs of male sibs with perinatal idiopathic hemochromatosis with giant cell hepatitis, and Laurendeau et al. (1961) observed 2 affected sisters, both reports suggesting autosomal recessive inheritance. </p><p>Schoenlebe et al. (1993) reported an experience indicating that neonatal hemochromatosis, also known as perinatal hemochromatosis or neonatal iron storage disease, can occur as part of neonatal lupus erythematosus syndrome (see 152700) associated with maternal anti-Ro/SSA (see 109092) and anti-La/SSB (109090) autoantibodies. They reported a 6-week-old girl with neonatal hemochromatosis whose mother had these autoantibodies associated with Sjogren syndrome (see 270150); an older child had congenital heart block. </p><p>Verloes et al. (1996) reported 2 families in which neonatal hemochromatosis was observed in half sibs. In the first family, 2 successive girls were born of different fathers. In a second family, an affected brother and sister were followed by an affected half brother born after donor insemination. These observations, as well as a previous abstract describing 2 affected half sisters, revived a debate over the inheritance of neonatal hemochromatosis and suggested causation by a maternal factor. Verloes et al. (1996) tabulated the reported familial cases of typical NH and noted that parental consanguinity was never mentioned. </p><p>Kelly et al. (2001) studied 40 infants from 27 families with neonatal hemochromatosis. Four pedigrees had clear evidence of neonatal hemochromatosis associated with maternal infection, including coxsackievirus, E. coli bacteremia and candidiasis, Staphylococcus aureus, and Herpes simplex virus and candidiasis. One pedigree showed transmission of maternal antinuclear factor and ribonucleoprotein antibodies to the affected infants, and 2 families showed possible matrilineal inheritance of disease in maternal half sibs. Fourteen pedigrees included affected and unaffected infants, and a single pedigree had all 4 infants affected by the condition born to consanguineous but otherwise healthy parents. The authors suggested that these 14 pedigrees support autosomal recessive inheritance of this condition in at least some families. </p>
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<p>Whitington (2007) and Whitington and Kelly (2008) presented evidence that neonatal hemochromatosis is a gestational disease in which fetal liver injury leads to the phenotype in the neonate. The rate of recurrence of the disorder in human sibs after the index case is 60 to 80%, suggesting maternal alloimmunity against the fetal liver. Preliminary studies found that pregnant mice injected with human IgG from women whose babies had NH had pups with extensive hepatic injury and liver necrosis. </p>
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<p>Based on the hypothesis that neonatal hemochromatosis results from maternal alloimmunity, Whitington and Kelly (2008) treated 48 women with a history of having an affected fetus with IV Ig. The gestational histories of these women demonstrated the high risk of occurrence of neonatal hemochromatosis: 92% of at-risk pregnancies had resulted in intrauterine fetal demise, neonatal death, or liver failure necessitating transplant. In contrast, with IV Ig gestational therapy, 53 at-risk gestations resulted in 3 failures and 52 infants who survived intact with medical therapy alone. Two of the 3 failures were not related to NH; the remaining case was lost to follow-up. Whitington and Kelly (2008) concluded that most cases of neonatal hemochromatosis result from a gestational alloimmune disease and that the occurrence of severe neonatal hemochromatosis in at-risk pregnancies can be significantly reduced by treatment with high-dose intravenous Ig during gestation. </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Exclusion Studies</em></strong></p><p>
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Hardy et al. (1990) sought evidence for major rearrangements or deletions at the HLA class I region and at 3 loci directly involved in iron metabolism (H- and L-apoferritin and the transferrin receptor) in neonatal hemochromatosis. In 10 affected probands and 26 first-degree relatives in a total of 13 kindreds, they found no evidence for major rearrangements or deletions in genes studied, and found no evidence for linkage of neonatal hemochromatosis to HLA serotypes. Hardy et al. (1990) concluded that whereas hereditary hemochromatosis and neonatal hemochromatosis are similar in their patterns of iron loading, they are not genetically related. </p><p>In several families with neonatal hemochromatosis, Kelly et al. (2001) carried out molecular analysis of the beta-2 microglobulin gene (109700), the HFE gene (613609), and the heme oxygenase-1 and -2 genes (141250; 141251) and found no evidence of pathogenic mutations in any of these genes segregating with the disease phenotype. </p>
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Cassady et al. (1964); Danks and Bodian (1963)
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