Neutral lipid storage disease

Summary

Neutral lipid storage disease (MONDO:0015611) is a disease and 3 clinical trials. A subtype of disorder of phospholipids, sphingolipids and fatty acids biosynthesis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Clinical trials: 3

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		50	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	neutral lipid storage disease
Mondo ID	MONDO:0015611
Orphanet	165
DOID	DOID:0050729
ICD-11	621440298
UMLS	C5848057
MedGen	1853293
GARD	0003262
Is cancer (heuristic)	no

Also known as: Chanarin-Dorfman syndrome · lipidosis with triglycerid storage disease · lipidosis with triglyceride storage disease

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inherited lipid metabolism disorder › disorder of phospholipids, sphingolipids and fatty acids biosynthesis › neutral lipid storage disease

Related subtypes (16): Sengers syndrome, Sjogren-Larsson syndrome, Barth syndrome, megaconial type congenital muscular dystrophy, hereditary spastic paraplegia 39, PHARC syndrome, congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, spinocerebellar ataxia type 38, progressive encephalopathy with leukodystrophy due to DECR deficiency, progressive myoclonic epilepsy type 8, fatty acid hydroxylase-associated neurodegeneration, hereditary sensory and autonomic neuropathy type 1, GM3 synthase deficiency, nephrotic syndrome 14, autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction

Subtypes (3): Dorfman-Chanarin disease, neutral lipid storage myopathy, triglyceride deposit cardiomyovasculopathy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01527318	PHASE4	COMPLETED	The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)
NCT02918032	Not specified	RECRUITING	International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
NCT02635269	Not specified	UNKNOWN	Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy