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PGBM1 - polyglucosan body myopathy type 1

disorder
SNOMED 774148007CUI C4014605

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.

Undergrowth
Always present (100%)HP:0001508
Cardiac insufficiency
Frequent (30-79%)HP:0001635
Chronic diarrhoea
Frequent (30-79%)HP:0002028
Disease of the heart muscle
Frequent (30-79%)HP:0001638
Dystrophic nails
Frequent (30-79%)HP:0008404
Enlarged liver
Frequent (30-79%)HP:0002240
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
Low number of red blood cells or haemoglobin
Frequent (30-79%)HP:0001903
Lymph node hyperplasia
Frequent (30-79%)HP:0002716
Metabolic acidosis
Frequent (30-79%)HP:0001942
Muscle weakness
Frequent (30-79%)HP:0001324
Neurogenic muscle atrophy, especially in the lower limbs
Frequent (30-79%)HP:0003202
Recurrent bacterial infections
Frequent (30-79%)HP:0002718
Red scaly skin caused by inflammatory skin disease
Frequent (30-79%)HP:0001019
Seizures
Frequent (30-79%)HP:0001250
Slowed or blocked flow of bile from liver
Frequent (30-79%)HP:0001396
Stretched and thinned heart muscle
Frequent (30-79%)HP:0001644
Thin skin
Frequent (30-79%)HP:0000963
Umbilical cord stump infection
Frequent (30-79%)HP:0032435
Upset stomach
Frequent (30-79%)HP:0002027
VUR
Frequent (30-79%)HP:0000076
Dermatitis
Occasional (5-29%)HP:0000964
Elevated liver enzymes
Occasional (5-29%)HP:0002910

Related Conditions

Recessive hereditary disorder (autosomal)(parent)
Cardiomyopathy(parent)
Glycogen storage disease(parent)
Hereditary disorder of musculoskeletal system(parent)
Metabolic myopathy(parent)
Cardiovascular system hereditary disorder(parent)

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.