Sphingolipidosis

rare

An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

Identifiers: MONDO:0019255 Orphanet:79225
Part of: Lysosomal lipid storage disorder

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Gangliosidosis	MONDO:0017719	15
Niemann-Pick disease	MONDO:0001982	13
Gaucher disease	MONDO:0018150	5
PSAP-related sphingolipidosis	MONDO:0100517	4	PSAP
Metachromatic leukodystrophy	MONDO:0018868	4
Krabbe disease	MONDO:0009499	3	GALC
ASAH1-related sphingolipidosis	MONDO:0100524	2	ASAH1
Fabry disease	MONDO:0010526		GLA
Autosomal recessive cerebellar ataxia with late-onset spasticity	MONDO:0018129
Mucosulfatidosis	MONDO:0010088		SUMF1
Sea-blue histiocyte syndrome	MONDO:0010017		APOE

Rare disease

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