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Triglyceride storage disease with ichthyosis

disorder
SNOMED 19604005CUI C0268238

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Clinical Trials

1
Total Trials
0
Recruiting
0
With Results

Recent Trials

The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)

NCT01527318Phase 4Completed6 enrolled
View all 1 trials on ClinicalTrials.gov

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Congenital lamellar ichthyosis
Very frequent (80-99%)HP:0007479
Muscle weakness, progressive, proximal
Very frequent (80-99%)HP:0009073
Abnormal levels of creatine kinase in blood
Frequent (30-79%)HP:0040081
Abnormality of granulocytes
Frequent (30-79%)HP:0001911
Absent tendon reflexes
Frequent (30-79%)HP:0001284
Ataxia
Frequent (30-79%)HP:0001251
Decreased body height
Frequent (30-79%)HP:0004322
Disease of the heart muscle
Frequent (30-79%)HP:0001638
Eclabium
Frequent (30-79%)HP:0012472
Elevated csf protein
Frequent (30-79%)HP:0002922
EMG: myopathic changes
Frequent (30-79%)HP:0003458
Enlarged liver
Frequent (30-79%)HP:0002240
Everted eyelid
Frequent (30-79%)HP:0000656
Eye drop
Frequent (30-79%)HP:0000508
Fatty liver
Frequent (30-79%)HP:0001397
Gait disturbance
Frequent (30-79%)HP:0001288
Hair loss
Frequent (30-79%)HP:0001596
Increased intramyocellular lipid droplets
Frequent (30-79%)HP:0012240
Increased liver function tests
Frequent (30-79%)HP:0002910
Increased triglycerides
Frequent (30-79%)HP:0002155
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Mental and motor retardation
Frequent (30-79%)HP:0001263
Myopathy
Frequent (30-79%)HP:0003198
Sensorineural deafness
Frequent (30-79%)HP:0000407
Shoulder girdle muscle weakness
Frequent (30-79%)HP:0003547
Small earlobes
Frequent (30-79%)HP:0000385
Squint
Frequent (30-79%)HP:0000486
Subcapsular opacities
Frequent (30-79%)HP:0000523
Central nervous system degeneration
Occasional (5-29%)HP:0007009
Micronodular cirrhosis
Occasional (5-29%)HP:0001413

Related Conditions

Lipid storage disease(parent)
Hereditary disorder of musculoskeletal system(parent)
Disease of skeletal muscle(parent)

Quick Facts

SNOMED CT
19604005
UMLS CUI
C0268238
Fully Specified Name
Triglyceride storage disease with ichthyosis (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Clinical Trials
1
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.