Generalized congenital lipodystrophy with myopathy

disorder

SNOMED 1156814008CUI C2750069

Overview

Generalized congenital lipodystrophy with myopathy 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.

Central nuclei

Always present (100%)HP:0003687

Elevated serum creatine phosphokinase

Always present (100%)HP:0003236

Inability to make and keep healthy fat tissue

Always present (100%)HP:0009125

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Muscle mounding

Always present (100%)HP:0003719

Acromegaly

Frequent (30-79%)HP:0033794

Dyschezia

Frequent (30-79%)HP:0002019

Enlarged liver

Frequent (30-79%)HP:0002240

Fatty liver

Frequent (30-79%)HP:0001397

Flexion contractures

Frequent (30-79%)HP:0001371

Hyperinsulinemia

Frequent (30-79%)HP:0000842

Hypertrophic muscles

Frequent (30-79%)HP:0003712

Increased triglycerides

Frequent (30-79%)HP:0002155

Large spleen

Frequent (30-79%)HP:0001744

Muscle stiffness

Frequent (30-79%)HP:0003552

Muscle weakness

Frequent (30-79%)HP:0001324

pulmonary infections, recurrent

Frequent (30-79%)HP:0006532

Scoliosis

Frequent (30-79%)HP:0002650

Early bone maturation

Occasional (5-29%)HP:0005616

Hirsutism

Occasional (5-29%)HP:0001007

Muscle pain

Occasional (5-29%)HP:0003326

Prominent swayback

Occasional (5-29%)HP:0003307

Prominent umbilicus

Occasional (5-29%)HP:0001544

Quivering upper heart chambers resulting in irregular heartbeat

Occasional (5-29%)HP:0005110

Acanthosis nigricans

Excluded (<1%)HP:0000956

Body fails to respond to insulin

HP:0000855

Bradycardia

HP:0001662

Deglutition disorder

HP:0002015

Elevated serum transaminases

HP:0002910

Feeding difficulties

HP:0011968

Related Conditions

Disorder of muscle(parent)

Berardinelli's syndrome(parent)

Connective tissue hereditary disorder(parent)

Genetic lipodystrophy(parent)

Hereditary disorder of the integument(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1156814008
UMLS CUI: C2750069
Fully Specified Name: Generalized congenital lipodystrophy with myopathy (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.