Glycogen storage disease, type IV

disorder

SNOMED 11179002CUI C0017923

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.

Less than 10 fetal movements in 12 hours

Always present (100%)HP:0001558

Abnormal cardiomyocyte morphology

Very frequent (80-99%)HP:0031331

Abnormal muscle glycogen content

Very frequent (80-99%)HP:0012269

Abnormal neuronal branching

Very frequent (80-99%)HP:0500032

Enlarged liver

Very frequent (80-99%)HP:0002240

Generalized abnormality of skin

Very frequent (80-99%)HP:0011354

Liver dysfunction, mild

Very frequent (80-99%)HP:0001410

Bradycardia

Frequent (30-79%)HP:0001662

Delayed motor milestones

Frequent (30-79%)HP:0001270

Fetal foot inversion

Frequent (30-79%)HP:0001762

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hyporeflexia

Frequent (30-79%)HP:0001265

Increased liver function tests

Frequent (30-79%)HP:0002910

Low albumin

Frequent (30-79%)HP:0003073

Myopathy

Frequent (30-79%)HP:0003198

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Poor weight gain

Frequent (30-79%)HP:0001508

Stretched and thinned heart muscle

Frequent (30-79%)HP:0001644

Ascites

Occasional (5-29%)HP:0001541

Chronic heart failure

Occasional (5-29%)HP:0001635

Cirrhosis

Occasional (5-29%)HP:0001394

Esophageal varix

Occasional (5-29%)HP:0002040

Fetal akinesia

Occasional (5-29%)HP:0001989

Flexion contractures

Occasional (5-29%)HP:0001371

Hepatosplenomegaly

Occasional (5-29%)HP:0001433

Hydramnios

Occasional (5-29%)HP:0001561

Laboured breathing

Occasional (5-29%)HP:0002098

Low factor II activity

Occasional (5-29%)HP:0008151

Muscle atrophy, neurogenic

Occasional (5-29%)HP:0003202

Nonimmune hydrops fetalis

Occasional (5-29%)HP:0001790

Related Conditions

Glycogen storage disease, hepatic form(parent)

Glycogen storage disease, muscular form(parent)

Quick Facts

SNOMED CT: 11179002
UMLS CUI: C0017923
Fully Specified Name: Glycogen storage disease, type IV (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.