Glycogen storage disease due to aldolase A deficiency

disorder

SNOMED 1187461004CUI C0272066

Overview

Glycogen storage disease due to aldolase A deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Alanine aminotransferase increased

Always present (100%)HP:0031964

Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity

Always present (100%)HP:6000555

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Enlarged liver

Always present (100%)HP:0002240

Hemoglobinuria

Always present (100%)HP:0003641

High blood bilirubin levels

Always present (100%)HP:0002904

Increased lactate dehydrogenase level

Always present (100%)HP:0025435

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Large spleen

Always present (100%)HP:0001744

Low number of red blood cells or haemoglobin

Always present (100%)HP:0001903

Muscle fiber splitting

Always present (100%)HP:0003555

Muscular hypotonia

Always present (100%)HP:0001252

Nonspherocytic hemolytic anaemia

Always present (100%)HP:0001930

Reduced haptoglobin level

Always present (100%)HP:0020181

Yellowing of the skin

Always present (100%)HP:0000952

Pyrexia

Very frequent (80-99%)HP:0001945

Reduced circulating aldolase concentration

Very frequent (80-99%)HP:0012545

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Hemolytic anaemia

Frequent (30-79%)HP:0001878

Increased creatine phosphokinase after exercise

Frequent (30-79%)HP:0008331

Muscle fiber atrophy

Frequent (30-79%)HP:0100295

Muscle pain

Frequent (30-79%)HP:0003326

Muscle weakness

Frequent (30-79%)HP:0001324

Rhabdomyolysis with exercise

Frequent (30-79%)HP:0009045

Skeletal myopathy

Frequent (30-79%)HP:0003756

Viral infection-induced rhabdomyolysis

Frequent (30-79%)HP:0003558

Abnormal heart rate

Occasional (5-29%)HP:0011675

Acute kidney injury

Occasional (5-29%)HP:0001919

Decreased muscle mass

Occasional (5-29%)HP:0003199

Growth failure

Occasional (5-29%)HP:0001510

Related Conditions

Glycogen storage disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1187461004
UMLS CUI: C0272066
Fully Specified Name: Glycogen storage disease due to aldolase A deficiency (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.