Overview
PGBM1 - polyglucosan body myopathy type 1 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.
Postnatal failure to thrive
Always present (100%)HP:0001508
Chronic diarrhoea
Frequent (30-79%)HP:0002028
Chronic heart failure
Frequent (30-79%)HP:0001635
Decreased haemoglobin
Frequent (30-79%)HP:0001903
Disease of the heart muscle
Frequent (30-79%)HP:0001638
Dystrophic nails
Frequent (30-79%)HP:0008404
Enlarged liver
Frequent (30-79%)HP:0002240
Epilepsy
Frequent (30-79%)HP:0001250
Erythroderma
Frequent (30-79%)HP:0001019
Hematochezia
Frequent (30-79%)HP:0002573
Hypoproteinemia
Frequent (30-79%)HP:0003075
Increased total leukocyte count
Frequent (30-79%)HP:0001974
Inflammation of the lymph nodes
Frequent (30-79%)HP:0002840
Inflammatory bowel disease
Frequent (30-79%)HP:0002037
Intermittent fever
Frequent (30-79%)HP:0001954
Large spleen
Frequent (30-79%)HP:0001744
Liver fibrosis
Frequent (30-79%)HP:0001395
Metabolic acidosis
Frequent (30-79%)HP:0001942
Muscle wasting
Frequent (30-79%)HP:0003202
Muscle weakness
Frequent (30-79%)HP:0001324
Prone to bacterial infection
Frequent (30-79%)HP:0002718
Slowed or blocked flow of bile from liver
Frequent (30-79%)HP:0001396
Stomach pain
Frequent (30-79%)HP:0002027
Stretched and thinned heart muscle
Frequent (30-79%)HP:0001644
Swollen lymph nodes
Frequent (30-79%)HP:0002716
Thin skin
Frequent (30-79%)HP:0000963
Umbilical cord stump infection
Frequent (30-79%)HP:0032435
VUR
Frequent (30-79%)HP:0000076
Abnormal liver function
Occasional (5-29%)HP:0002910
Eczema
Occasional (5-29%)HP:0000964
Quick Facts
- SNOMED CT
- 774148007
- UMLS CUI
- C4014605
- Fully Specified Name
- Polyglucosan body myopathy type 1 (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.