Glycogen storage disease due to liver and muscle glycogen phosphorylase kinase deficiency

disorder

SNOMED 860860004CUI C0543514

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.

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Enlarged liver

Very frequent (80-99%)HP:0002240

Growth delay as children

Very frequent (80-99%)HP:0008897

Increased triglycerides

Very frequent (80-99%)HP:0002155

Abnormal liver function tests

Frequent (30-79%)HP:0002910

Elevated total cholesterol

Frequent (30-79%)HP:0003124

Growth failure

Frequent (30-79%)HP:0001510

Liver fibrosis

Frequent (30-79%)HP:0001395

Low blood sugar

Frequent (30-79%)HP:0001943

Low blood sugar when fasting

Frequent (30-79%)HP:0003162

Central hypotonia

Occasional (5-29%)HP:0001252

Cirrhosis

Occasional (5-29%)HP:0001394

Decreased body height

Occasional (5-29%)HP:0004322

Delayed gross motor development

Occasional (5-29%)HP:0002194

Delayed language development

Occasional (5-29%)HP:0000750

Elevated circulating creatine phosphokinase

Occasional (5-29%)HP:0003236

Hip-girdle muscle weakness

Occasional (5-29%)HP:0003749

Hyperuricaemia

Occasional (5-29%)HP:0002149

Hypoglycemic episodes

Occasional (5-29%)HP:0001988

Ketotic hypoglycemia

Occasional (5-29%)HP:0012734

Large spleen

Occasional (5-29%)HP:0001744

Light or infrequent menstrual periods

Occasional (5-29%)HP:0000876

Limb-girdle muscle weakness

Occasional (5-29%)HP:0003325

Menstrual irregularity

Occasional (5-29%)HP:0000858

Muscle pain

Occasional (5-29%)HP:0003326

Muscle spasm

Occasional (5-29%)HP:0003394

Muscle wasting

Occasional (5-29%)HP:0003202

Muscle weakness

Occasional (5-29%)HP:0001324

Painful menstruation

Occasional (5-29%)HP:0100607

Poor exercise tolerance

Occasional (5-29%)HP:0003546

Related Conditions

Glycogen phosphorylase kinase deficiency(parent)

Quick Facts

SNOMED CT: 860860004
UMLS CUI: C0543514
Fully Specified Name: Glycogen storage disease type IXB (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.