neutral lipid storage myopathy
MONDO:0012545Mondo
Findings
No curated finding names neutral lipid storage myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
44 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Increased muscle lipid contentHPOHP:0009058
- 3 of 3 reported patients
- MyopathyHPOHP:0003198
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Fatty replacement of skeletal muscleHPOHP:0012548
- Very frequent (80% to 99% of cases)
- Increased intramyocellular lipid dropletsHPOHP:0012240
- Very frequent (80% to 99% of cases)
- Progressive proximal muscle weaknessHPOHP:0009073
- Very frequent (80% to 99% of cases)
- Shoulder girdle muscle weaknessHPOHP:0003547
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- Mild intellectual disabilityHPOHP:0001256
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- Abnormal circulating creatine kinase activityHPOHP:0040081
- Frequent (30% to 79% of cases)
- CardiomyopathyHPOHP:0001638
- 1 of 3 reported patients
- Frequent (30% to 79% of cases)
Reported absent (1)
- ObesityHPOHP:0001513
Show the remaining 32
- Difficulty runningHPOHP:0009046
- Frequent (30% to 79% of cases)
- Easy fatigabilityHPOHP:0003388
- Frequent (30% to 79% of cases)
- FasciculationsHPOHP:0002380
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Gowers signHPOHP:0003391
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PNPLA2HGNC:30802
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: neutral lipid storage myopathy
- Also called
- neutral lipid storage disease with myopathy without ichthyosisNLSDM