Pearson marrow-pancreas syndrome

Common Name(s)

Pearson marrow-pancreas syndrome, Pearson syndrome

Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome. Pearson syndrome is caused by deletions in mitochondrial DNA. Inheritance is usually sporadic.   
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pearson marrow-pancreas syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pearson marrow-pancreas syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.
 

Author(s): J M van den Ouweland, J B de Klerk, M P van de Corput, R W Dirks, A K Raap, H R Scholte, J G Huijmans, L M Hart, G J Bruining, J A Maassen

Journal: Eur. J. Hum. Genet.. 2000 Mar;8(3):195-203.

 

We have recently diagnosed a patient with anaemia, severe tubulopathy, and diabetes mellitus. As the clinical characteristics resembled Pearson marrow-pancreas syndrome, despite the absence of malfunctioning of the exocrine pancreas in this patient, we have performed DNA analysis ...

Last Updated: 8 Jun 2000

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Reviews from the PubMed Database

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The terms "Pearson marrow-pancreas syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Fanconi Anemia; Myelodysplastic Syndromes; Nonmalignant Neoplasm; Pearson Marrow-pancreas Syndrome; Shwachman-diamond Syndrome

 

Last Updated: 1 Dec 2011

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Phase 2 Study of EPI-743 in Children With Pearson Syndrome
 

Status: Recruiting

Condition Summary: Pearson Syndrome

 

Last Updated: 15 Sep 2014

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