Pearson's syndrome

disorder

SNOMED 237985009CUI C0342784

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

3-methylglutaricaciduria

Always present (100%)HP:0003344

Complex organic aciduria

Always present (100%)HP:0008336

De toni-fanconi-debre syndrome

Always present (100%)HP:0001994

Hypoplastic anaemia

Always present (100%)HP:0001908

Metabolic acidosis

Always present (100%)HP:0001942

Type I diabetes mellitus

Always present (100%)HP:0100651

Bone marrow disease

Very frequent (80-99%)HP:0005561

Elevated lactate:pyruvate ratio

Very frequent (80-99%)HP:0032653

Hypoplastic bone marrow

Very frequent (80-99%)HP:0005528

Increased blood alanine

Very frequent (80-99%)HP:0003348

Increased urine lactate

Very frequent (80-99%)HP:0003648

Neutropoenia

Very frequent (80-99%)HP:0001875

Reticulocytosis

Very frequent (80-99%)HP:0001923

Unusual course of infection

Very frequent (80-99%)HP:0032169

Brain and/or spinal cord issue

Frequent (30-79%)HP:0000707

Cardiac anomaly

Frequent (30-79%)HP:0001627

Corneal stromal edema

Frequent (30-79%)HP:0012040

Decreased haemoglobin

Frequent (30-79%)HP:0001903

Disease of the heart muscle

Frequent (30-79%)HP:0001638

Enlarged liver

Frequent (30-79%)HP:0002240

Exocrine pancreatic insufficiency

Frequent (30-79%)HP:0001738

Growth delay as children

Frequent (30-79%)HP:0008897

Increased blood lactate

Frequent (30-79%)HP:0002151

Increased CSF lactic acid

Frequent (30-79%)HP:0002490

Large spleen

Frequent (30-79%)HP:0001744

Low birth weight

Frequent (30-79%)HP:0001518

Obsessive dieting

Frequent (30-79%)HP:0002039

Paleness

Frequent (30-79%)HP:0000980

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Renal insufficiency

Frequent (30-79%)HP:0000083

Related Conditions

Disorder of pyruvate metabolism and mitochondrial respiratory chain(parent)

Sideroblastic anemia(parent)

Quick Facts

SNOMED CT: 237985009
UMLS CUI: C0342784
Fully Specified Name: Pearson's syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.