Details of Disease

General Information of Disease (ID: DISEC08E)

Disease Name Sphingolipidosis
Synonyms sphingolipidoses
Disease Class 5C56: Lysosomal disease
Definition An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.
Disease Hierarchy
DISXQRTX: Lysosomal lipid storage disorder
DISEC08E: Sphingolipidosis
ICD Code
ICD-11
ICD-11: 5C56.0
Expand ICD-11
'5C56.0Y
Disease Identifiers
MONDO ID
MONDO_0019255
MESH ID
D013106
UMLS CUI
C0037899
MedGen ID
52453
Orphanet ID
79225
SNOMED CT ID
238028008

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Olipudase alfa DMO8N8N Approved NA [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SGPL1 TT618Q2 Limited Genetic Variation [2]
SMPD1 TTJTM88 Limited Biomarker [3]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP2A3 OTFYDEES Limited Biomarker [4]
SAMD9 OTDG48P0 moderate Genetic Variation [2]
PSAP OTUOEKY7 Strong Genetic Variation [5]
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References

1 Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2 Primary adrenal insufficiency: New genetic causes and their long-term consequences.Clin Endocrinol (Oxf). 2020 Jan;92(1):11-20. doi: 10.1111/cen.14109. Epub 2019 Oct 30.
3 A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency.Pediatr Dermatol. 2019 Nov;36(6):906-908. doi: 10.1111/pde.13889. Epub 2019 Oct 2.
4 Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease.J Neurochem. 2005 Dec;95(6):1619-28. doi: 10.1111/j.1471-4159.2005.03534.x. Epub 2005 Nov 8.
5 Characterization of Drosophila Saposin-related mutants as a model for lysosomal sphingolipid storage diseases.Dis Model Mech. 2017 Jun 1;10(6):737-750. doi: 10.1242/dmm.027953. Epub 2017 Apr 7.