Neutral lipid storage disease without ichthyosis

disorder

SNOMED 699315005CUI C1853136

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.

Increased muscle lipid content

Always present (100%)HP:0009058

Fatty replacement of skeletal muscle

Very frequent (80-99%)HP:0012548

Increased intramyocellular lipid droplets

Very frequent (80-99%)HP:0012240

Muscle weakness, progressive, proximal

Very frequent (80-99%)HP:0009073

Shoulder weakness

Very frequent (80-99%)HP:0003547

Abnormal levels of creatine kinase in blood

Frequent (30-79%)HP:0040081

Abnormal liver function tests

Frequent (30-79%)HP:0002910

Delayed motor milestones

Frequent (30-79%)HP:0001270

Difficulty running

Frequent (30-79%)HP:0009046

Disease of the heart muscle

Frequent (30-79%)HP:0001638

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hip-girdle muscle weakness

Frequent (30-79%)HP:0003749

Increased lactate dehydrogenase level

Frequent (30-79%)HP:0025435

Myopathy

Frequent (30-79%)HP:0003198

Tired easily

Frequent (30-79%)HP:0003388

Very long chain fatty acid accumulation

Frequent (30-79%)HP:0008167

Absent tendon reflexes

Occasional (5-29%)HP:0001284

Chronic pancreas inflammation

Occasional (5-29%)HP:0006280

Decreased body height

Occasional (5-29%)HP:0004322

Diabetes mellitus

Occasional (5-29%)HP:0000819

Enlarged liver

Occasional (5-29%)HP:0002240

Flaccid neck

Occasional (5-29%)HP:0000467

Generalised muscle wasting

Occasional (5-29%)HP:0009055

Hand muscle weakness

Occasional (5-29%)HP:0030237

Heart failure

Occasional (5-29%)HP:0001635

Inability to heel walk

Occasional (5-29%)HP:0009027

Increased triglycerides

Occasional (5-29%)HP:0002155

Mental retardation, mild

Occasional (5-29%)HP:0001256

Muscle weakness, progressive, distal

Occasional (5-29%)HP:0009063

Rimmed vacuoles

Occasional (5-29%)HP:0003805

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Lipid storage myopathy(parent)

Quick Facts

SNOMED CT: 699315005
UMLS CUI: C1853136
Fully Specified Name: Neutral lipid storage disease 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.