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Entry
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- #557000 - PEARSON MARROW-PANCREAS SYNDROME
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- OMIM
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<span class="h4">#557000</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/557000"><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="#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 style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=PEARSON MARROW-PANCREAS SYNDROME" 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=193&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.ncbi.nlm.nih.gov/books/NBK1203/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/pearson-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=557000[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=699" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/a7373125-ad15-4910-9371-b20b93307e85/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</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:557000" 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 id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 237985009<br />
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<strong>ORPHA:</strong> 699<br />
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<strong>DO:</strong> 0060067<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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557000
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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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PEARSON MARROW-PANCREAS SYNDROME
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</h3>
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<div>
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<br />
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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SIDEROBLASTIC ANEMIA WITH MARROW CELL VACUOLIZATION AND EXOCRINE PANCREATIC DYSFUNCTION
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</h4>
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</div>
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<a href="/clinicalSynopsis/557000" 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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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Mitochondrial <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312239001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312239001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75056005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75056005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026237</a>, <a href="https://bioportal.bioontology.org/search?q=C0887941&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0887941</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001427</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001427</a>]</span><br />
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<span class="h5 mim-font">
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<strong> GROWTH </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Weight </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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|
- Low birth weight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276610007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276610007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024032&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024032</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</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> Pancreas </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Exocrine pancreatic dysfunction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151951&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151951</a>]</span><br /> -
|
|
Pancreatic fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25942009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25942009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K86.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K86.89</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0267952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0267952</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100732" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100732</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100732" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100732</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82893001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82893001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D73.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D73.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0340987&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340987</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Malabsorption <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32230006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32230006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197476001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197476001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K90.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/579.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">579.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">579</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024523</a>, <a href="https://bioportal.bioontology.org/search?q=C3714745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714745</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002024</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002024</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">
|
|
|
|
- Renal Fanconi syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236466005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236466005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236468006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236468006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61598006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61598006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857395&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857395</a>, <a href="https://bioportal.bioontology.org/search?q=C0341703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0341703</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001994" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001994</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001994" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001994</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Metabolic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59455009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span><br /> -
|
|
Lactic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91273001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001125&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001125</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span><br />
|
|
|
|
</span>
|
|
</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">
|
|
|
|
- Insulin-dependent diabetes mellitus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46635009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46635009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011854&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011854</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100651</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100651</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">
|
|
|
|
- Refractory sideroblastic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41841004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41841004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551661</a>]</span><br /> -
|
|
Vacuolization of marrow precursors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151956&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151956</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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<p>A number sign (#) is used with this entry because Pearson marrow-pancreas syndrome is a contiguous gene deletion/duplication syndrome involving several mtDNA genes.</p>
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<div class="mim-changed mim-change"><p>Pearson marrow-pancreas syndrome is a multisystem disorder with clinical features of refractory anemia, vacuolization of marrow precursors, and pancreatic fibrosis. Onset is in infancy and various tissues and organs are affected. Most children diagnosed with Pearson syndrome die before the age of 3 years. Children who survive may develop features consistent with Kearns-Sayre syndrome (<a href="/entry/530000">530000</a>) (summary by <a href="#6" class="mim-tip-reference" title="Jacobs, L. J. A. M., Jongbloed, R. J. E., Wijburg, F. A., de Klerk, J. B. C., Geraedts, J. P. M., Nijland, J. G., Scholte, H. R., de Coo, I. F. M., Smeets, H. J. M. <strong>Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.</strong> J. Inherit. Metab. Dis. 27: 47-55, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14970745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14970745</a>] [<a href="https://doi.org/10.1023/B:BOLI.0000016601.49372.18" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14970745">Jacobs et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14970745" 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></div>
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<div class="mim-changed mim-change"><p><a href="#11" class="mim-tip-reference" title="Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R., Marsh, J. C. <strong>A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.</strong> J. Pediat. 95: 976-984, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/501502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">501502</a>] [<a href="https://doi.org/10.1016/s0022-3476(79)80286-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="501502">Pearson et al. (1979)</a> described a 'new' syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. Severe, transfusion-dependent, macrocytic anemia began in infancy. Four unrelated patients were observed. The parents and all sibs were hematologically normal. Both sexes were affected. No comment was made concerning parental consanguinity. One child had clinically evident malabsorption. This child and one other had extensive pancreatic fibrosis at autopsy. The other 2 children had findings indicative of pancreatic exocrine dysfunction. Two children had splenic atrophy. Two patients died at 26 and 29 months of age. Two others were alive at 36 and 42 months of age and showed hematologic improvement. The Shwachman syndrome (<a href="/entry/260400">260400</a>), which this disorder resembles in some ways, has predominantly leukopenia. In the Pearson syndrome the bone marrow has normal cellularity, and vacuolization is distinctive. The pancreas shows fatty replacement in the Shwachman syndrome, fibrosis in the Pearson syndrome. Bone lesions of Shwachman syndrome were not found. <a href="#4" class="mim-tip-reference" title="Favareto, F., Caprino, D., Micalizzi, C., Rosanda, C., Boeri, E., Mori, P. G. <strong>New clinical aspects of Pearsons's syndrome: report of three cases.</strong> Haematologica 74: 591-594, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2628242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2628242</a>]" pmid="2628242">Favareto et al. (1989)</a> described 3 patients, in 2 of whom insulin-dependent diabetes mellitus developed during the course of their illness. <a href="#4" class="mim-tip-reference" title="Favareto, F., Caprino, D., Micalizzi, C., Rosanda, C., Boeri, E., Mori, P. G. <strong>New clinical aspects of Pearsons's syndrome: report of three cases.</strong> Haematologica 74: 591-594, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2628242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2628242</a>]" pmid="2628242">Favareto et al. (1989)</a> described the differences from Shwachman syndrome, in which bone marrow dysplasia and exocrine pancreas failure also occurs. The disorders differ in bone marrow morphology. The polymorphic nature of the clinical pattern of Pearson syndrome was emphasized, however. <a href="#17" class="mim-tip-reference" title="Stoddard, R. A., McCurnin, D. C., Shultenover, S. J., Wright, J. E., deLemos, R. A. <strong>Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate.</strong> J. Pediat. 99: 259-261, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7195932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7195932</a>] [<a href="https://doi.org/10.1016/s0022-3476(81)80470-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7195932">Stoddard et al. (1981)</a> reported a case in which severe pancytopenia developed unusually early in life and fibrosis of the thyroid was found at autopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=501502+2628242+7195932" 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="Rotig, A., Cormier, V., Blanche, S., Bonnefont, J.-P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., Saudubray, J.-M., Munnich, A. <strong>Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy.</strong> J. Clin. Invest. 86: 1601-1608, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243133</a>] [<a href="https://doi.org/10.1172/JCI114881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243133">Rotig et al. (1990)</a> reported 5 patients with Pearson marrow-pancreas syndrome who presented with permanent metabolic acidosis and increased ketone body or lactate/pyruvate molar ratios in plasma. Polarographic studies showed that oxygen consumption by intact lymphocytes was defective and that oxidation of NADH in fragmented lymphocytes was greatly reduced. Oxidation of succinate and cytochrome c was altered to a varying extent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243133" 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="#5" class="mim-tip-reference" title="Gibson, K. M., Bennett, M. J., Mize, C. E., Jakobs, C., Rotig, A., Munnich, A., Lichter-Konecki, U., Trefz, F. K. <strong>3-methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.</strong> J. Pediat. 121: 940-942, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1447663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1447663</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)80348-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1447663">Gibson et al. (1992)</a> detected 3-methylglutaconic aciduria in 4 patients with Pearson syndrome and suggested that this finding may be a useful marker for Pearson syndrome and more specific than other organic acids identified in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1447663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Baerlocher, K. E., Feldges, A., Weissert, M., Simonsz, H. J., Rotig, A. <strong>Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome.</strong> J. Inherit. Metab. Dis. 15: 327-330, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1405465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1405465</a>] [<a href="https://doi.org/10.1007/BF02435968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1405465">Baerlocher et al. (1992)</a> described an 8-year-old boy with Pearson syndrome who showed the typical hematologic symptoms in early infancy. During his later course, increased CSF protein, ptosis, and retinitis pigmentosa pointed to the Kearns-Sayre syndrome, another mtDNA deletion disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1405465" 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="#18" class="mim-tip-reference" title="Superti-Furga, A., Schoenle, E., Tuchschmid, P., Caduff, R., Sabato, V., DeMattia, D., Gitzelmann, R., Steinmann, B. <strong>Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.</strong> Europ. J. Pediat. 152: 44-50, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680315</a>] [<a href="https://doi.org/10.1007/BF02072515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7680315">Superti-Furga et al. (1993)</a> reported a patient with Pearson syndrome with multiple organ involvement, fatal course, and a combination of increased amount, partial deletion, and duplication of mtDNA. In addition to small birth weight, connatal hypoplastic anemia, vacuolized bone marrow precursors, and failure to thrive, the patient subsequently developed insulin-dependent diabetes, renal Fanconi syndrome, lactic acidosis, and complex organic aciduria. The clinical course was progressive and death occurred at age 19 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7680315" 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="#2" class="mim-tip-reference" title="Casademont, J., Barrientos, A., Cardellach, F., Rotig, A., Grau, J.-M., Montoya, J., Beltran, B., Cervantes, F., Rozman, C., Estivill, X., Urbano-Marquez, A., Nunes, V. <strong>Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother.</strong> Hum. Molec. Genet. 3: 1945-1949, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874110</a>] [<a href="https://doi.org/10.1093/hmg/3.11.1945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874110">Casademont et al. (1994)</a> described 2 brothers with a clinical picture resembling Pearson syndrome and characterized by sideroblastic anemia, mild pancreatic insufficiency, and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. Muscle biopsy in both sibs showed ragged-red fibers and reduced activity of complexes I, III, and IV of the respiratory chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Cursiefen, C., Kuchle, M., Scheurlen, W., Naumann, G. O. H. <strong>Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome.</strong> Am. J. Ophthal. 125: 260-261, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9467460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9467460</a>] [<a href="https://doi.org/10.1016/s0002-9394(99)80105-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9467460">Cursiefen et al. (1998)</a> described bilateral zonular cataract in a 6-year-old boy with Pearson syndrome. At the age of 3 years, the boy had developed strabismus secondary to bilateral zonular cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9467460" 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="#7" class="mim-tip-reference" title="Krauch, G., Wilichowski, E., Schmidt, K. G., Mayatepek, E. <strong>Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA.</strong> Am. J. Med. Genet. 110: 57-61, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12116272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12116272</a>] [<a href="https://doi.org/10.1002/ajmg.10410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12116272">Krauch et al. (2002)</a> described a 5-year-old girl who developed, in addition to the typical features of Pearson syndrome, worsening cardiac function, mainly affecting the left ventricle. Hitherto, cardiac involvement had not been regarded as a major feature of Pearson syndrome. The diagnosis was proved by the finding of pleioplasmatic rearrangement of mitochondrial DNA, including a combination of deletion and duplication, in blood cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12116272" 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></div>
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<div class="mim-changed mim-change"><p><a href="#12" class="mim-tip-reference" title="Rotig, A., Colonna, M., Bonnefont, J. P., Blanche, S., Fischer, A., Saudubray, J. M., Munnich, A. <strong>Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. (Letter)</strong> Lancet 333: 902-903, 1989. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2564980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2564980</a>] [<a href="https://doi.org/10.1016/s0140-6736(89)92897-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2564980">Rotig et al. (1989)</a> found deletion of the mitochondrial genome in a patient with Pearson syndrome. Two populations of mtDNA were demonstrated, 1 being partly deleted. Specific probes showed that the deletions spanned the genes coding for 4 subunits of NADH dehydrogenase, 1 subunit of cytochrome oxidase, and 1 subunit of ATPase. The deletion spanned 4,977 bp. The presence of short repeats at the boundaries of the deleted sequence may not be fortuitous; these direct repeats may promote intramolecular recombination, deletions, or duplications in human mtDNA. <a href="#12" class="mim-tip-reference" title="Rotig, A., Colonna, M., Bonnefont, J. P., Blanche, S., Fischer, A., Saudubray, J. M., Munnich, A. <strong>Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. (Letter)</strong> Lancet 333: 902-903, 1989. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2564980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2564980</a>] [<a href="https://doi.org/10.1016/s0140-6736(89)92897-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2564980">Rotig et al. (1989)</a> were prompted to study mitochondrial DNA in 2 patients because of persistent metabolic acidosis and a high blood lactate in early infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2564980" 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 5 patients with Pearson marrow-pancreas syndrome, <a href="#13" class="mim-tip-reference" title="Rotig, A., Cormier, V., Blanche, S., Bonnefont, J.-P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., Saudubray, J.-M., Munnich, A. <strong>Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy.</strong> J. Clin. Invest. 86: 1601-1608, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243133</a>] [<a href="https://doi.org/10.1172/JCI114881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243133">Rotig et al. (1990)</a> detected a mixed population of normal and deleted mitochondrial genomes in all tissues tested, but different proportions of deleted mtDNA molecules were noted. In 1 patient, a deletion-duplication was found. In the other 4 patients, deletions were found. In 1 of the deletion patients, ND4 and ND5 were deleted. In the other 3, a more extensive deletion extending from A6 to ND5 was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243133" 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 patient who had features of Pearson syndrome and who later developed features of Kearns-Sayre syndrome (<a href="/entry/530000">530000</a>), <a href="#10" class="mim-tip-reference" title="McShane, M. A., Hammans, S. R., Sweeney, M., Holt, I. J., Beattie, T. J., Brett, E. M., Harding, A. E. <strong>Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.</strong> Am. J. Hum. Genet. 48: 39-42, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1985462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1985462</a>]" pmid="1985462">McShane et al. (1991)</a> showed mtDNA heteroplasmy for a deletion of 4.9 kb. <a href="#8" class="mim-tip-reference" title="Larsson, N.-G., Holme, E., Kristiansson, B., Oldfors, A., Tulinius, M. <strong>Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome.</strong> Pediat. Res. 28: 131-136, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2395603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2395603</a>] [<a href="https://doi.org/10.1203/00006450-199008000-00011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2395603">Larsson et al. (1990)</a> described a patient heteroplasmic for deletion in mtDNA who recovered spontaneously from infantile sideroblastic anemia of the type seen in Pearson syndrome but who subsequently developed the features of Kearns-Sayre syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2395603+1985462" 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 study of 9 unrelated children, including the patient originally reported by <a href="#11" class="mim-tip-reference" title="Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R., Marsh, J. C. <strong>A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.</strong> J. Pediat. 95: 976-984, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/501502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">501502</a>] [<a href="https://doi.org/10.1016/s0022-3476(79)80286-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="501502">Pearson et al. (1979)</a>, <a href="#14" class="mim-tip-reference" title="Rotig, A., Cormier, V., Koll, F., Mize, C. E., Saudubray, J.-M., Veerman, A., Pearson, H. A., Munnich, A. <strong>Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.</strong> Genomics 10: 502-504, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1712754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1712754</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90342-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1712754">Rotig et al. (1991)</a> found 5 different types of direct repeats at the boundaries of the mtDNA deletions and provided evidence for conservation of the 3-prime-repeated sequence in the deletions. <a href="#13" class="mim-tip-reference" title="Rotig, A., Cormier, V., Blanche, S., Bonnefont, J.-P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., Saudubray, J.-M., Munnich, A. <strong>Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy.</strong> J. Clin. Invest. 86: 1601-1608, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243133</a>] [<a href="https://doi.org/10.1172/JCI114881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243133">Rotig et al. (1990)</a> confirmed the presence of mtDNA deletion in a lymphoblastoid cell line from a patient originally reported by <a href="#11" class="mim-tip-reference" title="Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R., Marsh, J. C. <strong>A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.</strong> J. Pediat. 95: 976-984, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/501502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">501502</a>] [<a href="https://doi.org/10.1016/s0022-3476(79)80286-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="501502">Pearson et al. (1979)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1712754+501502+2243133" 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="#9" class="mim-tip-reference" title="Majander, A., Suomalainen, A., Vettenranta, K., Sariola, H., Perkkio, M., Holmberg, C., Pihko, H. <strong>Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion.</strong> Pediat. Res. 30: 327-330, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1956715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1956715</a>] [<a href="https://doi.org/10.1203/00006450-199110000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1956715">Majander et al. (1991)</a> demonstrated mtDNA deletion in an infant with a variant of Pearson syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1956715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 8-year-old boy with Pearson syndrome who later developed features of Kearns-Sayre syndrome, <a href="#1" class="mim-tip-reference" title="Baerlocher, K. E., Feldges, A., Weissert, M., Simonsz, H. J., Rotig, A. <strong>Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome.</strong> J. Inherit. Metab. Dis. 15: 327-330, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1405465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1405465</a>] [<a href="https://doi.org/10.1007/BF02435968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1405465">Baerlocher et al. (1992)</a> analyzed leukocyte mtDNA and detected a 5.5-kb mtDNA deletion similar to that found in at least 5 other patients with Pearson syndrome (<a href="#13" class="mim-tip-reference" title="Rotig, A., Cormier, V., Blanche, S., Bonnefont, J.-P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., Saudubray, J.-M., Munnich, A. <strong>Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy.</strong> J. Clin. Invest. 86: 1601-1608, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243133</a>] [<a href="https://doi.org/10.1172/JCI114881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243133">Rotig et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2243133+1405465" 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 patient with Pearson syndrome with multiple organ involvement and fatal course, <a href="#18" class="mim-tip-reference" title="Superti-Furga, A., Schoenle, E., Tuchschmid, P., Caduff, R., Sabato, V., DeMattia, D., Gitzelmann, R., Steinmann, B. <strong>Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.</strong> Europ. J. Pediat. 152: 44-50, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680315</a>] [<a href="https://doi.org/10.1007/BF02072515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7680315">Superti-Furga et al. (1993)</a> identified a high proportion of mtDNA molecules with deletion of nucleotides 9238 to 15575 in several tissues; about half of the shortened mtDNA molecules were concatenated to form circular dimers. The experience indicated that Pearson syndrome is a disorder not confined to bone marrow and pancreas but rather a multiorgan disorder. The tissue distribution and relative proportions of abnormal mtDNA molecules apparently determined the phenotype and the clinical course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7680315" 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 2 brothers with Pearson syndrome, <a href="#2" class="mim-tip-reference" title="Casademont, J., Barrientos, A., Cardellach, F., Rotig, A., Grau, J.-M., Montoya, J., Beltran, B., Cervantes, F., Rozman, C., Estivill, X., Urbano-Marquez, A., Nunes, V. <strong>Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother.</strong> Hum. Molec. Genet. 3: 1945-1949, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874110</a>] [<a href="https://doi.org/10.1093/hmg/3.11.1945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874110">Casademont et al. (1994)</a> detected multiple mtDNA deletions in both skeletal muscle and, to a lesser extent, in leukocytes. Similar, but not identical deletions were also present in the leukocytes and muscle from their mother. Deletions were flanked by short direct repeats. <a href="#2" class="mim-tip-reference" title="Casademont, J., Barrientos, A., Cardellach, F., Rotig, A., Grau, J.-M., Montoya, J., Beltran, B., Cervantes, F., Rozman, C., Estivill, X., Urbano-Marquez, A., Nunes, V. <strong>Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother.</strong> Hum. Molec. Genet. 3: 1945-1949, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874110</a>] [<a href="https://doi.org/10.1093/hmg/3.11.1945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874110">Casademont et al. (1994)</a> concluded that this disorder was probably an autosomal dominant. They commented on the fact that a phenotypic shift from a predominantly hematopoietic disorder (Pearson syndrome) to a disease with overt muscle dysfunction (mitochondrial myopathy) had been observed, with the eventual evolution to a full picture of Kearns-Sayre syndrome, depending on the distribution of deleted mtDNA. The existence of an autosomal dominant mitochondrial DNA breakage syndrome (<a href="/entry/157640">157640</a>) seems well established. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874110" 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 5-year-old girl with Pearson syndrome including cardiac involvement, <a href="#7" class="mim-tip-reference" title="Krauch, G., Wilichowski, E., Schmidt, K. G., Mayatepek, E. <strong>Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA.</strong> Am. J. Med. Genet. 110: 57-61, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12116272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12116272</a>] [<a href="https://doi.org/10.1002/ajmg.10410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12116272">Krauch et al. (2002)</a> identified pleioplasmatic rearrangement of mitochondrial DNA, including a combination of deletion and duplication, in blood cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12116272" 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="Shanske, S., Tang, Y., Hirano, M., Nishigaki, Y., Tanji, K., Bonilla, E., Sue, C., Krishna, S., Carlo, J. R., Willner, J., Schon, E. A., DiMauro, S. <strong>Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome.</strong> Am. J. Hum. Genet. 71: 679-683, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12152148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12152148</a>] [<a href="https://doi.org/10.1086/342482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12152148">Shanske et al. (2002)</a> noted that single deletions of mtDNA are associated with 3 major clinical conditions: Kearns-Sayre syndrome (<a href="/entry/530000">530000</a>), Pearson syndrome, and progressive external ophthalmoplegia (<a href="/entry/157640">157640</a>). Typically, single mtDNA deletions are sporadic events occurring in isolated members of a family. <a href="#16" class="mim-tip-reference" title="Shanske, S., Tang, Y., Hirano, M., Nishigaki, Y., Tanji, K., Bonilla, E., Sue, C., Krishna, S., Carlo, J. R., Willner, J., Schon, E. A., DiMauro, S. <strong>Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome.</strong> Am. J. Hum. Genet. 71: 679-683, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12152148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12152148</a>] [<a href="https://doi.org/10.1086/342482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12152148">Shanske et al. (2002)</a> described the case of a woman who presented with progressive external ophthalmoplegia, ptosis, and weakness of pharyngeal, facial, neck, and limb muscles. She had 2 unaffected children, but another of her children, an infant son, had sideroblastic anemia, was diagnosed with Pearson syndrome, and died at 1 year of age. Morphologic analysis of a muscle biopsy sample from the mother showed cytochrome c oxidase-negative ragged-red fibers, a typical pattern in patients with mtDNA deletions. Southern blot analysis using multiple restriction endonucleases and probed with multiple mtDNA fragments showed that both the mother and her infant son harbored an identical 5,355-bp single deletion in mtDNA, without flanking direct repeats. The deletion was the only abnormal species of mtDNA identified in both patients, and there was no evidence for duplications. Thus, although most single large-scale deletions in mtDNA are sporadic, single deletions can be transmitted through the germline in rare cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12152148" 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="#6" class="mim-tip-reference" title="Jacobs, L. J. A. M., Jongbloed, R. J. E., Wijburg, F. A., de Klerk, J. B. C., Geraedts, J. P. M., Nijland, J. G., Scholte, H. R., de Coo, I. F. M., Smeets, H. J. M. <strong>Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.</strong> J. Inherit. Metab. Dis. 27: 47-55, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14970745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14970745</a>] [<a href="https://doi.org/10.1023/B:BOLI.0000016601.49372.18" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14970745">Jacobs et al. (2004)</a> reported a patient with a novel mitochondrial DNA deletion of 3.4 kb ranging from nucleotide 6097 to 9541 in combination with deletion dimers. The mutation percentage in different tissues (blood, muscle, and liver) varied between 64% and 95%. After a remission period of about a year, the patient died suddenly at the age of 3 years owing to severe lactic acidosis. A second patient with a previously reported deletion of 8 kb and a milder phenotype was found to have mitochondrial duplications and died at the age of 10 years. <a href="#6" class="mim-tip-reference" title="Jacobs, L. J. A. M., Jongbloed, R. J. E., Wijburg, F. A., de Klerk, J. B. C., Geraedts, J. P. M., Nijland, J. G., Scholte, H. R., de Coo, I. F. M., Smeets, H. J. M. <strong>Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.</strong> J. Inherit. Metab. Dis. 27: 47-55, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14970745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14970745</a>] [<a href="https://doi.org/10.1023/B:BOLI.0000016601.49372.18" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14970745">Jacobs et al. (2004)</a> suggested that duplications, in contrast to dimerizations, may lead to a better life expectancy and less severe phenotype with Kearns-Sayre-like symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14970745" 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></div>
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<a href="#Rotig1989" class="mim-tip-reference" title="Rotig, A., Cormier, V., Saudubray, J. M., Munnich, A. <strong>Directly-repeated sequences in the mitochondrial genome promote deletions in Pearson's syndrome. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A215, 1989.">Rotig et al. (1989)</a>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1016/s0002-9394(99)80105-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(05)80348-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1023/B:BOLI.0000016601.49372.18" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10410" target="_blank">Full Text</a>]
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Larsson, N.-G., Holme, E., Kristiansson, B., Oldfors, A., Tulinius, M.
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[<a href="https://doi.org/10.1203/00006450-199008000-00011" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1203/00006450-199110000-00007" target="_blank">Full Text</a>]
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<a id="Pearson1979" class="mim-anchor"></a>
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Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R., Marsh, J. C.
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[<a href="https://doi.org/10.1016/s0022-3476(79)80286-3" target="_blank">Full Text</a>]
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<a id="Rotig1989" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1016/s0140-6736(89)92897-3" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Rotig1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rotig, A., Cormier, V., Blanche, S., Bonnefont, J.-P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., Saudubray, J.-M., Munnich, A.
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[<a href="https://doi.org/10.1172/JCI114881" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Rotig1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rotig, A., Cormier, V., Koll, F., Mize, C. E., Saudubray, J.-M., Veerman, A., Pearson, H. A., Munnich, A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1712754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1712754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1712754" 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/10.1016/0888-7543(91)90342-c" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Rotig1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rotig, A., Cormier, V., Saudubray, J. M., Munnich, A.
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<strong>Directly-repeated sequences in the mitochondrial genome promote deletions in Pearson's syndrome. (Abstract)</strong>
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<a id="Shanske2002" class="mim-anchor"></a>
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Shanske, S., Tang, Y., Hirano, M., Nishigaki, Y., Tanji, K., Bonilla, E., Sue, C., Krishna, S., Carlo, J. R., Willner, J., Schon, E. A., DiMauro, S.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12152148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12152148</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12152148" 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/10.1086/342482" target="_blank">Full Text</a>]
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<a id="Stoddard1981" class="mim-anchor"></a>
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Stoddard, R. A., McCurnin, D. C., Shultenover, S. J., Wright, J. E., deLemos, R. A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7195932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7195932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7195932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Superti-Furga, A., Schoenle, E., Tuchschmid, P., Caduff, R., Sabato, V., DeMattia, D., Gitzelmann, R., Steinmann, B.
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<strong>Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.</strong>
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Europ. J. Pediat. 152: 44-50, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680315</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7680315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF02072515" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 7/31/2007
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Victor A. McKusick - updated : 10/9/2002<br>Victor A. McKusick - updated : 6/12/2002<br>Victor A. McKusick - updated : 5/12/1998
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Victor A. McKusick : 9/24/1992
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carol : 11/03/2011<br>carol : 4/28/2011<br>terry : 9/8/2010<br>terry : 3/31/2009<br>alopez : 8/3/2007<br>alopez : 8/3/2007<br>terry : 7/31/2007<br>terry : 4/21/2005<br>carol : 10/11/2002<br>tkritzer : 10/10/2002<br>terry : 10/9/2002<br>cwells : 6/21/2002<br>terry : 6/12/2002<br>carol : 5/21/1998<br>terry : 5/12/1998<br>alopez : 7/31/1997<br>mimman : 2/8/1996<br>carol : 12/21/1994<br>carol : 5/18/1993<br>carol : 3/20/1993<br>carol : 3/1/1993<br>carol : 2/4/1993<br>carol : 9/25/1992
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SIDEROBLASTIC ANEMIA WITH MARROW CELL VACUOLIZATION AND EXOCRINE PANCREATIC DYSFUNCTION
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<strong>SNOMEDCT:</strong> 237985009;
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<strong>ORPHA:</strong> 699;
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<p>A number sign (#) is used with this entry because Pearson marrow-pancreas syndrome is a contiguous gene deletion/duplication syndrome involving several mtDNA genes.</p>
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<p>Pearson marrow-pancreas syndrome is a multisystem disorder with clinical features of refractory anemia, vacuolization of marrow precursors, and pancreatic fibrosis. Onset is in infancy and various tissues and organs are affected. Most children diagnosed with Pearson syndrome die before the age of 3 years. Children who survive may develop features consistent with Kearns-Sayre syndrome (530000) (summary by Jacobs et al., 2004). </p>
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<p>Pearson et al. (1979) described a 'new' syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. Severe, transfusion-dependent, macrocytic anemia began in infancy. Four unrelated patients were observed. The parents and all sibs were hematologically normal. Both sexes were affected. No comment was made concerning parental consanguinity. One child had clinically evident malabsorption. This child and one other had extensive pancreatic fibrosis at autopsy. The other 2 children had findings indicative of pancreatic exocrine dysfunction. Two children had splenic atrophy. Two patients died at 26 and 29 months of age. Two others were alive at 36 and 42 months of age and showed hematologic improvement. The Shwachman syndrome (260400), which this disorder resembles in some ways, has predominantly leukopenia. In the Pearson syndrome the bone marrow has normal cellularity, and vacuolization is distinctive. The pancreas shows fatty replacement in the Shwachman syndrome, fibrosis in the Pearson syndrome. Bone lesions of Shwachman syndrome were not found. Favareto et al. (1989) described 3 patients, in 2 of whom insulin-dependent diabetes mellitus developed during the course of their illness. Favareto et al. (1989) described the differences from Shwachman syndrome, in which bone marrow dysplasia and exocrine pancreas failure also occurs. The disorders differ in bone marrow morphology. The polymorphic nature of the clinical pattern of Pearson syndrome was emphasized, however. Stoddard et al. (1981) reported a case in which severe pancytopenia developed unusually early in life and fibrosis of the thyroid was found at autopsy. </p><p>Rotig et al. (1990) reported 5 patients with Pearson marrow-pancreas syndrome who presented with permanent metabolic acidosis and increased ketone body or lactate/pyruvate molar ratios in plasma. Polarographic studies showed that oxygen consumption by intact lymphocytes was defective and that oxidation of NADH in fragmented lymphocytes was greatly reduced. Oxidation of succinate and cytochrome c was altered to a varying extent. </p><p>Gibson et al. (1992) detected 3-methylglutaconic aciduria in 4 patients with Pearson syndrome and suggested that this finding may be a useful marker for Pearson syndrome and more specific than other organic acids identified in this disorder. </p><p>Baerlocher et al. (1992) described an 8-year-old boy with Pearson syndrome who showed the typical hematologic symptoms in early infancy. During his later course, increased CSF protein, ptosis, and retinitis pigmentosa pointed to the Kearns-Sayre syndrome, another mtDNA deletion disorder. </p><p>Superti-Furga et al. (1993) reported a patient with Pearson syndrome with multiple organ involvement, fatal course, and a combination of increased amount, partial deletion, and duplication of mtDNA. In addition to small birth weight, connatal hypoplastic anemia, vacuolized bone marrow precursors, and failure to thrive, the patient subsequently developed insulin-dependent diabetes, renal Fanconi syndrome, lactic acidosis, and complex organic aciduria. The clinical course was progressive and death occurred at age 19 months. </p><p>Casademont et al. (1994) described 2 brothers with a clinical picture resembling Pearson syndrome and characterized by sideroblastic anemia, mild pancreatic insufficiency, and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. Muscle biopsy in both sibs showed ragged-red fibers and reduced activity of complexes I, III, and IV of the respiratory chain. </p><p>Cursiefen et al. (1998) described bilateral zonular cataract in a 6-year-old boy with Pearson syndrome. At the age of 3 years, the boy had developed strabismus secondary to bilateral zonular cataract. </p><p>Krauch et al. (2002) described a 5-year-old girl who developed, in addition to the typical features of Pearson syndrome, worsening cardiac function, mainly affecting the left ventricle. Hitherto, cardiac involvement had not been regarded as a major feature of Pearson syndrome. The diagnosis was proved by the finding of pleioplasmatic rearrangement of mitochondrial DNA, including a combination of deletion and duplication, in blood cells. </p>
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<p>Rotig et al. (1989) found deletion of the mitochondrial genome in a patient with Pearson syndrome. Two populations of mtDNA were demonstrated, 1 being partly deleted. Specific probes showed that the deletions spanned the genes coding for 4 subunits of NADH dehydrogenase, 1 subunit of cytochrome oxidase, and 1 subunit of ATPase. The deletion spanned 4,977 bp. The presence of short repeats at the boundaries of the deleted sequence may not be fortuitous; these direct repeats may promote intramolecular recombination, deletions, or duplications in human mtDNA. Rotig et al. (1989) were prompted to study mitochondrial DNA in 2 patients because of persistent metabolic acidosis and a high blood lactate in early infancy. </p><p>In 5 patients with Pearson marrow-pancreas syndrome, Rotig et al. (1990) detected a mixed population of normal and deleted mitochondrial genomes in all tissues tested, but different proportions of deleted mtDNA molecules were noted. In 1 patient, a deletion-duplication was found. In the other 4 patients, deletions were found. In 1 of the deletion patients, ND4 and ND5 were deleted. In the other 3, a more extensive deletion extending from A6 to ND5 was observed. </p><p>In a patient who had features of Pearson syndrome and who later developed features of Kearns-Sayre syndrome (530000), McShane et al. (1991) showed mtDNA heteroplasmy for a deletion of 4.9 kb. Larsson et al. (1990) described a patient heteroplasmic for deletion in mtDNA who recovered spontaneously from infantile sideroblastic anemia of the type seen in Pearson syndrome but who subsequently developed the features of Kearns-Sayre syndrome. </p><p>In a study of 9 unrelated children, including the patient originally reported by Pearson et al. (1979), Rotig et al. (1991) found 5 different types of direct repeats at the boundaries of the mtDNA deletions and provided evidence for conservation of the 3-prime-repeated sequence in the deletions. Rotig et al. (1990) confirmed the presence of mtDNA deletion in a lymphoblastoid cell line from a patient originally reported by Pearson et al. (1979). </p><p>Majander et al. (1991) demonstrated mtDNA deletion in an infant with a variant of Pearson syndrome. </p><p>In an 8-year-old boy with Pearson syndrome who later developed features of Kearns-Sayre syndrome, Baerlocher et al. (1992) analyzed leukocyte mtDNA and detected a 5.5-kb mtDNA deletion similar to that found in at least 5 other patients with Pearson syndrome (Rotig et al., 1990). </p><p>In a patient with Pearson syndrome with multiple organ involvement and fatal course, Superti-Furga et al. (1993) identified a high proportion of mtDNA molecules with deletion of nucleotides 9238 to 15575 in several tissues; about half of the shortened mtDNA molecules were concatenated to form circular dimers. The experience indicated that Pearson syndrome is a disorder not confined to bone marrow and pancreas but rather a multiorgan disorder. The tissue distribution and relative proportions of abnormal mtDNA molecules apparently determined the phenotype and the clinical course. </p><p>In 2 brothers with Pearson syndrome, Casademont et al. (1994) detected multiple mtDNA deletions in both skeletal muscle and, to a lesser extent, in leukocytes. Similar, but not identical deletions were also present in the leukocytes and muscle from their mother. Deletions were flanked by short direct repeats. Casademont et al. (1994) concluded that this disorder was probably an autosomal dominant. They commented on the fact that a phenotypic shift from a predominantly hematopoietic disorder (Pearson syndrome) to a disease with overt muscle dysfunction (mitochondrial myopathy) had been observed, with the eventual evolution to a full picture of Kearns-Sayre syndrome, depending on the distribution of deleted mtDNA. The existence of an autosomal dominant mitochondrial DNA breakage syndrome (157640) seems well established. </p><p>In a 5-year-old girl with Pearson syndrome including cardiac involvement, Krauch et al. (2002) identified pleioplasmatic rearrangement of mitochondrial DNA, including a combination of deletion and duplication, in blood cells. </p><p>Shanske et al. (2002) noted that single deletions of mtDNA are associated with 3 major clinical conditions: Kearns-Sayre syndrome (530000), Pearson syndrome, and progressive external ophthalmoplegia (157640). Typically, single mtDNA deletions are sporadic events occurring in isolated members of a family. Shanske et al. (2002) described the case of a woman who presented with progressive external ophthalmoplegia, ptosis, and weakness of pharyngeal, facial, neck, and limb muscles. She had 2 unaffected children, but another of her children, an infant son, had sideroblastic anemia, was diagnosed with Pearson syndrome, and died at 1 year of age. Morphologic analysis of a muscle biopsy sample from the mother showed cytochrome c oxidase-negative ragged-red fibers, a typical pattern in patients with mtDNA deletions. Southern blot analysis using multiple restriction endonucleases and probed with multiple mtDNA fragments showed that both the mother and her infant son harbored an identical 5,355-bp single deletion in mtDNA, without flanking direct repeats. The deletion was the only abnormal species of mtDNA identified in both patients, and there was no evidence for duplications. Thus, although most single large-scale deletions in mtDNA are sporadic, single deletions can be transmitted through the germline in rare cases. </p><p>Jacobs et al. (2004) reported a patient with a novel mitochondrial DNA deletion of 3.4 kb ranging from nucleotide 6097 to 9541 in combination with deletion dimers. The mutation percentage in different tissues (blood, muscle, and liver) varied between 64% and 95%. After a remission period of about a year, the patient died suddenly at the age of 3 years owing to severe lactic acidosis. A second patient with a previously reported deletion of 8 kb and a milder phenotype was found to have mitochondrial duplications and died at the age of 10 years. Jacobs et al. (2004) suggested that duplications, in contrast to dimerizations, may lead to a better life expectancy and less severe phenotype with Kearns-Sayre-like symptoms. </p>
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Rotig et al. (1989)
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Baerlocher, K. E., Feldges, A., Weissert, M., Simonsz, H. J., Rotig, A.
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<strong>Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome.</strong>
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J. Inherit. Metab. Dis. 15: 327-330, 1992.
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[PubMed: 1405465]
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[Full Text: https://doi.org/10.1007/BF02435968]
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Casademont, J., Barrientos, A., Cardellach, F., Rotig, A., Grau, J.-M., Montoya, J., Beltran, B., Cervantes, F., Rozman, C., Estivill, X., Urbano-Marquez, A., Nunes, V.
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<strong>Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother.</strong>
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Hum. Molec. Genet. 3: 1945-1949, 1994.
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[PubMed: 7874110]
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[Full Text: https://doi.org/10.1093/hmg/3.11.1945]
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Cursiefen, C., Kuchle, M., Scheurlen, W., Naumann, G. O. H.
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<strong>Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome.</strong>
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Am. J. Ophthal. 125: 260-261, 1998.
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[PubMed: 9467460]
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[Full Text: https://doi.org/10.1016/s0002-9394(99)80105-6]
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Favareto, F., Caprino, D., Micalizzi, C., Rosanda, C., Boeri, E., Mori, P. G.
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<strong>New clinical aspects of Pearsons's syndrome: report of three cases.</strong>
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Haematologica 74: 591-594, 1989.
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[PubMed: 2628242]
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Gibson, K. M., Bennett, M. J., Mize, C. E., Jakobs, C., Rotig, A., Munnich, A., Lichter-Konecki, U., Trefz, F. K.
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<strong>3-methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.</strong>
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J. Pediat. 121: 940-942, 1992.
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[PubMed: 1447663]
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[Full Text: https://doi.org/10.1016/s0022-3476(05)80348-8]
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Jacobs, L. J. A. M., Jongbloed, R. J. E., Wijburg, F. A., de Klerk, J. B. C., Geraedts, J. P. M., Nijland, J. G., Scholte, H. R., de Coo, I. F. M., Smeets, H. J. M.
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Majander, A., Suomalainen, A., Vettenranta, K., Sariola, H., Perkkio, M., Holmberg, C., Pihko, H.
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Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R., Marsh, J. C.
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Rotig, A., Colonna, M., Bonnefont, J. P., Blanche, S., Fischer, A., Saudubray, J. M., Munnich, A.
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<strong>Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. (Letter)</strong>
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Rotig, A., Cormier, V., Blanche, S., Bonnefont, J.-P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., Saudubray, J.-M., Munnich, A.
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Rotig, A., Cormier, V., Koll, F., Mize, C. E., Saudubray, J.-M., Veerman, A., Pearson, H. A., Munnich, A.
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<strong>Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.</strong>
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Rotig, A., Cormier, V., Saudubray, J. M., Munnich, A.
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<strong>Directly-repeated sequences in the mitochondrial genome promote deletions in Pearson's syndrome. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A215, 1989.
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Shanske, S., Tang, Y., Hirano, M., Nishigaki, Y., Tanji, K., Bonilla, E., Sue, C., Krishna, S., Carlo, J. R., Willner, J., Schon, E. A., DiMauro, S.
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<strong>Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome.</strong>
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Stoddard, R. A., McCurnin, D. C., Shultenover, S. J., Wright, J. E., deLemos, R. A.
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<strong>Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate.</strong>
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[PubMed: 7195932]
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Superti-Furga, A., Schoenle, E., Tuchschmid, P., Caduff, R., Sabato, V., DeMattia, D., Gitzelmann, R., Steinmann, B.
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<strong>Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.</strong>
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[PubMed: 7680315]
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