Glucose phosphate isomerase deficiency

disorder

SNOMED 234404008CUI C0398561

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.

Decreased glucose phosphate isomerase activity

Frequent (30-79%)HP:0003568

Enlarged liver

Frequent (30-79%)HP:0002240

Increased lactate dehydrogenase level

Frequent (30-79%)HP:0025435

Large spleen

Frequent (30-79%)HP:0001744

Nonspherocytic hemolytic anaemia

Frequent (30-79%)HP:0001930

Reticulocytosis

Frequent (30-79%)HP:0001923

Unconjugated hyperbilirubinemia

Frequent (30-79%)HP:0008282

Yellowing of the skin

Frequent (30-79%)HP:0000952

Gallbladder inflammation

Occasional (5-29%)HP:0001082

Hydrops fetalis

Occasional (5-29%)HP:0001789

Low intelligence

Occasional (5-29%)HP:0001249

Pigment gallstones

Occasional (5-29%)HP:0011981

Poikilocytosis

Occasional (5-29%)HP:0004447

Related Conditions

Erythrocyte enzyme deficiency(parent)

Quick Facts

SNOMED CT: 234404008
UMLS CUI: C0398561
Fully Specified Name: Glucose phosphate isomerase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.