Sphingolipidosis

Summary

Sphingolipidosis (MONDO:0019255) is a disease (an umbrella term covering 11 Mondo subtypes). A subtype of lysosomal lipid storage disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 11 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	sphingolipidosis
Mondo ID	MONDO:0019255
MeSH	D013106
Orphanet	79225
DOID	DOID:1927
ICD-11	1875237176
NCIT	C117254
SNOMED CT	238028008
UMLS	C0037899
MedGen	52453
GARD	0007672
Is cancer (heuristic)	no

Disease family

This is a subtype of lysosomal lipid storage disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

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 › lysosomal lipid storage disorder › sphingolipidosis

Related subtypes (6): triglyceride storage disease, xanthomatosis, neutral lipid storage disease, neuronal ceroid lipofuscinosis, cerebral lipidosis with dementia, lysosomal acid lipase deficiency

Subtypes (11): Niemann-Pick disease, Krabbe disease, sea-blue histiocyte syndrome, mucosulfatidosis, Fabry disease, gangliosidosis, autosomal recessive cerebellar ataxia with late-onset spasticity, Gaucher disease, metachromatic leukodystrophy, PSAP-related sphingolipidosis, ASAH1-related sphingolipidosis

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: 0.