ORPHA:98908
Neutral lipid storage disease with myopathy
Also known as: Adipose triglyceride lipase deficiency · NLSDM · Neutral lipid storage disease type M · Neutral lipid storage disease with myopathy without ichthyosis
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
249
75.5th percentile
Trials
2
Interventional, condition-specific
Researchers
1,096
Distinct authors in sample
Gene link
PNPLA2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of neutral lipid storage disease characterized by adult onset of slowly muscular weakness of the limbs and axial muscles, and accumulation of lipid droplets in the muscles and leukocytes.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012545
- OMIM:610717
- UMLS:C1853136
Additional Mondo synonyms (1)
neutral lipid storage disease with myopathy without ichthyosis
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — PNPLA2
- LiteraturePresent
249 matched papers (164 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (PNPLA2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
249
249 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
249 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
164 in the last 10 years · medium confidence · 75.5th percentile (publications denominator)
Phrase hits: 249 · MeSH hits: 0
Who's working on it?
1,096
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Tavian D20 papers · 2026
Laboratory of Human Molecular Biology and Genetics, Catholic University of the Sacred Heart, Milan, Italy. daniela.tavia@unicatt.it
Papers in Europe PMC - 02Zechner R20 papers · 2026
Institute of Molecular Biosciences, University of Graz, 8010 Graz, Austria.
Papers in Europe PMC - 03Missaglia S17 papers · 2026
Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan, Italy.
Papers in Europe PMC - 04Angelini C12 papers · 2025
IRCCS Fondazione San Camillo Hospital, via Alberoni 70, 30100 Venice, Italy. Electronic address: corrado.angelini@unipd.it.
Papers in Europe PMC - 05Kobayashi K10 papers · 2023
Department of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital, 1-1-1, Zokumyoin, Chikushino, Fukuoka, 818-8502, Japan.
Papers in Europe PMC - 06Zimmermann R10 papers · 2024
Institute of Molecular Biosciences, University of Graz, 8010 Graz, Austria;
Papers in Europe PMC - 07
- 08Lass A8 papers · 2022
Institute of Molecular Biosciences, University of Graz, 8010 Graz, Austria.
Papers in Europe PMC - 09Oberer M8 papers · 2023
Institute of Molecular Biosciences, BioTechMed Graz, University of Graz, A-8010 Graz, Austria.
Papers in Europe PMC - 10Haemmerle G7 papers · 2023
Institute of Molecular Biosciences, University of Graz, 8010 Graz, Austria.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 1 trial are registered for neutral lipid storage disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: neutral lipid storage disease
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Neutral lipid storage disease with myopathy" OR "Adipose triglyceride lipase deficiency" OR "NLSDM" OR "Neutral lipid storage disease type M" OR "Neutral lipid storage disease with myopathy without ichthyosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neutral lipid storage disease with myopathy" OR "Adipose triglyceride lipase deficiency" OR "NLSDM" OR "Neutral lipid storage disease type M" OR "Neutral lipid storage disease with myopathy without ichthyosis" OR "PNPLA2"
Recall-expansion terms: PNPLA2
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"neutral lipid storage disease"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (249) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T05:42:07.916Z