POGLUT1-related limb girdle muscular dystrophy R21

disorder

SNOMED 1172703004CUI C4310660

Overview

POGLUT1-related limb girdle muscular dystrophy R21 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.

Fatty replacement of skeletal muscle

Always present (100%)HP:0012548

limb girdle muscular dystrophy

Always present (100%)HP:0006785

Muscle atrophy, neurogenic

Always present (100%)HP:0003202

Proximal muscle weakness in lower limbs

Always present (100%)HP:0008994

Scapular weakness

Always present (100%)HP:0003691

Loss of ambulation

Frequent (30-79%)HP:0002505

Reduced FEV1/FVC ratio

Frequent (30-79%)HP:0030877

Reduced forced vital capacity

Frequent (30-79%)HP:0032341

Restrictive lung disease

Frequent (30-79%)HP:0002091

Elevated serum creatine phosphokinase

Occasional (5-29%)HP:0003236

Pulmonary obstruction

Occasional (5-29%)HP:0006536

Respiratory function loss

HP:0002093

Related Conditions

Chronic metabolic disease(parent)

Carbohydrate-deficient glycoprotein syndrome(parent)

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 1172703004
UMLS CUI: C4310660
Fully Specified Name: Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.