Pearson syndrome
MONDO:0010797Mondo
Findings
No curated finding names Pearson syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0010797), read 2026-09-29. CC BY 4.0.
- Inheritance
- Mitochondrial inheritance
- Onset and course
- Infantile onset · Neonatal onset · Death in childhood · Fetal onset
HPO, annotations 2026-09-02
Features
89 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 3-Methylglutaric aciduriaHPOHP:0003344
- 4 of 4 reported patients
- Complex organic aciduriaHPOHP:0008336
- 1 of 1 reported patient
- Hypoplastic anemiaHPOHP:0001908
- 1 of 1 reported patient
- Metabolic acidosisHPOHP:0001942
- 5 of 5 reported patients
- Renal Fanconi syndromeHPOHP:0001994
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Type I diabetes mellitus
Show the remaining 77
- HyperalaninemiaHPOHP:0003348
- Very frequent (80% to 99% of cases)
- LacticaciduriaHPOHP:0003648
- Very frequent (80% to 99% of cases)
- ReticulocytosisHPOHP:0001923
- Very frequent (80% to 99% of cases)
- Severe infectionHPOHP:0032169
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- 6 of 9 reported patients
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
Where it sits
- A kind of
Other names
1 name
Resolves to: Pearson syndrome
- Also called
- Pearson marrow-pancreas syndrome