Pearson marrow-pancreas syndrome

Preferred Label : Pearson marrow-pancreas syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction;

Inheritance : Mitochondrial;

Molecular basis : Caused by deletion of mtDNA;

Laboratory abnormalities : 3-methylglutaconic aciduria; Complex organic aciduria; Mitochondrial deletions; Increased ketone body or lactate/pyruvate plasma ratios;

Prefixed ID : #557000;

Details

Origin ID

557000;

UMLS CUI

C0342784;

Automatic exact mappings (from CISMeF team)
- Congenital hypoplastic anaemia [ICD-11 Category]
- VLCAD deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Pearson Syndrome [NCIt concept]
- Pearson syndrome [Disease (Nov.)]
- Pearson syndrome [DO Concept]
- Pearson syndrome [ICD-11 More detail]
- Pearson syndrome [ORDO Disease]
- Pearson's syndrome [MedDRA Preferred Term]
- Pearson's syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Pearson syndrome [DO Concept]
HPO term(s)
- 3-Methylglutaric aciduria [HPO term]
- Anemia [HPO term]
- Anorexia [HPO term]
- Chronic diarrhea [HPO term]
- Complex organic aciduria [HPO term]
- Death in childhood [HPO term]
- Dehydration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Erythema [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Failure to thrive [HPO term]
- Fetal onset [HPO term]
- Hepatic failure [HPO term]
- Hepatomegaly [HPO term]
- Hydrops fetalis [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypercalciuria [HPO term]
- Hypoplastic anemia [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Macronodular cirrhosis [HPO term]
- Malabsorption [HPO term]
- Metabolic acidosis [HPO term]
- Mitochondrial inheritance [HPO term]
- Neonatal onset [HPO term]
- Neutropenia [HPO term]
- Pallor [HPO term]
- Pancreatic fibrosis [HPO term]
- Pancytopenia [HPO term]
- Punctate keratitis [HPO term]
- Recurrent infections [HPO term]
- Refractory sideroblastic anemia [HPO term]
- Renal Fanconi syndrome [HPO term]
- Reticulocytopenia [HPO term]
- Sideroblastic anemia [HPO term]
- Small for gestational age [HPO term]
- Steatorrhea [HPO term]
- Thrombocytopenia [HPO term]
- Type I diabetes mellitus [HPO term]
- Villous atrophy [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Pearson syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pearson Syndrome [NCIt concept]
- Pearson syndrome [ORDO Disease]
- Pearson syndrome [DO Concept]
- Pearson syndrome [ICD-11 More detail]
- Pearson's syndrome [MedDRA Preferred Term]
- Pearson's syndrome (disorder) [SNOMED CT concept]
- VLCAD deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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