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Features include always present findings: Myopathy, Elevated circulating hepatic transaminase concentration, and Increased muscle lipid content; and common findings: Mild intellectual disability, Short stature, Enlarged liver (hepatomegaly), and Diabetes mellitus and others. 30 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 9 | Myopathy, Low muscle tone (hypotonia), Fasciculations |
PNPLA2 function has not been fully characterized.
Neutral lipid storage myopathy is caused by mutations in the PNPLA2 gene on chromosome 11.
Genetic testing for PNPLA2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for neutral lipid storage myopathy has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 6 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
13 publications have been identified in PubMed for neutral lipid storage myopathy. Research spans Case Report / Case Series (77%), Diagnostic / Biomarker (8%), and Basic Science / Preclinical (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 10 | 77% |
Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 5:32 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Digestive system | 5 | Hepatic steatosis, Enlarged liver (hepatomegaly), Elevated circulating hepatic transaminase concentration |
Brain and nerves | 4 | Mild intellectual disability, Fasciculations, Exercise intolerance |
Lab test results | 2 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated circulating hepatic transaminase concentration |
Ears | 2 | Hearing loss (hearing impairment), Inner ear hearing loss (sensorineural hearing impairment) |
Growth and development | 1 | Short stature |
Hormones | 1 | Diabetes mellitus |
Blood and immune system | 1 | Enlarged spleen (splenomegaly) |
Head and neck | 1 | Microcephaly |
Skin | 1 | Dry, scaly skin (ichthyosis) |
Heart and blood vessels | 1 | Heart muscle disease (cardiomyopathy) |
Testing and diagnosis research |
1 |
8% |
Laboratory research | 1 | 8% |
Disease patterns and progression | 1 | 8% |
Gemmink A (2026). [PMID: 41224118](https://pubmed.ncbi.nlm.nih.gov/41224118/). *Biochimica et biophysica acta. Molecular and cell biology of lipids*. [Case Report / Case Series]
Desai S (2026). [PMID: 41622608](https://pubmed.ncbi.nlm.nih.gov/41622608/). *Annals of Indian Academy of Neurology*. [Case Report / Case Series]
Dong F (2026). [PMID: 41856356](https://pubmed.ncbi.nlm.nih.gov/41856356/). *Can J Cardiol*. [Case Report / Case Series]
Dong F (2026). [PMID: 42161629](https://pubmed.ncbi.nlm.nih.gov/42161629/). *Zhonghua Xin Xue Guan Bing Za Zhi*. [Case Report / Case Series]
Thrupthi KM (2026). [PMID: 42226026](https://pubmed.ncbi.nlm.nih.gov/42226026/). *QJM*. [Diagnostic / Biomarker]
Faedo E (2026). [PMID: 42266408](https://pubmed.ncbi.nlm.nih.gov/42266408/). *Front Genet*. [Case Report / Case Series]
Luan YN (2025). [PMID: 40598302](https://pubmed.ncbi.nlm.nih.gov/40598302/). *Orphanet journal of rare diseases*. [Case Report / Case Series]
Missaglia S (2025). [PMID: 40919432](https://pubmed.ncbi.nlm.nih.gov/40919432/). *Frontiers in genetics*. [Epidemiology / Natural History]
Şenol HB (2025). [PMID: 39911175](https://pubmed.ncbi.nlm.nih.gov/39911175/). *Molecular syndromology*. [Case Report / Case Series]
Brilliant J (2024). [PMID: 39691342](https://pubmed.ncbi.nlm.nih.gov/39691342/). *JACC. Case reports*. [Basic Science / Preclinical]
AI-curated news mentioning neutral lipid storage myopathy
Updated Mar 17, 2026
A recent study highlights a rare presentation of dilated cardiomyopathy linked to a PNPLA2 gene mutation in patients with neutral lipid storage disease and myopathy. This discovery may enhance understanding of the genetic underpinnings of these conditions.