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Diseases
Pearson's marrow-pancreas syndrome
pearson's marrow-pancreas syndrome
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Pearson's marrow-pancreas syndrome
- Standard Disease Name
- pearson's marrow-pancreas syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 557000
- UMLS ID
- C0342784
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare syndrome with poor prognosis caused by single, large deletions of mitochondrial DNA. It usually presents in infancy with bone marrow failure, anemia, neutropenia, thrombocytopenia, vacuolation of the hematopoietic precursor cells, lactic acidosis, and fibrosis and acinar atrophy of the pancreas that results in malabsorption and chronic diarrhea. Approximately half of the patients die in infancy or early childhood.
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Related Targets
target disease8 Targets