MCID: SPH010
MIFTS: 34

Sphingolipidosis malady

Metabolic diseases category

Summaries for Sphingolipidosis

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63Wikipedia, 32MalaCards
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Wikipedia:63 Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main... more...

MalaCards: Sphingolipidosis, also known as sphingolipidoses, is related to niemann-pick disease and tay-sachs disease. An important gene associated with Sphingolipidosis is ASAH2 (N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2), and among its related pathways are Lysosome and Sphingolipid metabolism. The compounds lactosylceramide and glycosphingolipid have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and kidney, and related mouse phenotype renal/urinary system.

Aliases & Classifications for Sphingolipidosis

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8Disease Ontology, 42NIH Rare Diseases, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Aliases & Descriptions:

sphingolipidosis 8 42
sphingolipidoses 8 42 44 60
sphingolipidosis, nos 8


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Disease Ontology8 DOID:1927
MeSH34 D013106
SNOMED-CT56 238028008, 58459009
ICD1025 E75.3

Related Diseases for Sphingolipidosis

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17GeneCards, 18GeneDecks
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Diseases related to Sphingolipidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease30.2ASAH2, PSAP
2tay-sachs disease30.0PSAP, GLA
3fabry disease30.0PSAP, GLA
4gaucher's disease29.8PSAP
5farber lipogranulomatosis29.8ASAH2, PSAP
6metachromatic leukodystrophy29.8GLA, PSAP
7childhood ataxia with central nervous system hypomyelination/vanishing white matter10.1
8krabbe disease10.0
9pol iii-related leukodystrophies10.0
10gaucher disease perinatal lethal10.0
11lipid storage disease10.0
12lipogranulomatosis10.0ASAH2
13gangliosidosis10.0PSAP
14niemann–pick disease10.0ASAH2, PSAP
15leukodystrophy10.0PSAP
16atopic dermatitis10.0PSAP, ASAH2
17gangliosidosis gm110.0GLA, PSAP
18lysosomal storage disease10.0PSAP, GLA
19pelizaeus-merzbacher disease9.9
20mucosulfatidosis9.9
21canavan disease9.9
22alexander disease9.9
23kidney disease9.9
24gaucher disease type 29.9
25gaucher disease type 39.9
26leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation9.9
27megalencephalic leukoencephalopathy with subcortical cysts9.9
28polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy9.9
29dermatoleukodystrophy9.9
30hypomyelination with atrophy of basal ganglia and cerebellum9.9
31leukodystrophy, hypomyelinating 39.9
32niemann-pick disease type c19.9
33leukodystrophy, adult-onset, autosomal dominant9.9
34leukoencephalopathy, cystic, without megalencephaly9.9
35leukoencephalopathy with dystonia and motor neuropathy9.9
36gaucher disease, type iiic9.9
37leukodystrophy, hypomyelinating, 29.9
38leukodystrophy, hypomyelinating, 49.9
39gaucher disease, atypical9.9
40combined sap deficiency9.9
41pcwh syndrome9.9
42leukoencephalopathy with bilateral anterior temporal lobe cysts9.9
43progressive cavitating leukoencephalopathy9.9
44pelizaeus-merzbacher disease, connatal form9.9
45pelizaeus-merzbacher disease, classic form9.9
46null syndrome9.9
47pelizaeus-merzbacher disease, transitional form9.9
48pelizaeus-merzbacher disease in female carriers9.9
49infantile krabbe disease9.9
50late-infantile/juvenile krabbe disease9.9

Graphical network of the top 20 diseases related to Sphingolipidosis:



Diseases related to sphingolipidosis

Clinical Features for Sphingolipidosis

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Drugs & Therapeutics for Sphingolipidosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Sphingolipidosis

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Anatomical Context for Sphingolipidosis

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32MalaCards
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MalaCards organs/tissues related to Sphingolipidosis:

32
Brain, Skin, Kidney

Animal Models for Sphingolipidosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Sphingolipidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5RAB8A, GLA, PSAP

Publications for Sphingolipidosis

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50PubMed
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Articles related to Sphingolipidosis:

(show all 12)
idTitleAuthorsYear
1
Sustained activation of sphingomyelin synthase by 2-hydroxyoleic acid induces sphingolipidosis in tumor cells. (23471028)
2013
2
Arsenic induces oxidative stress, sphingolipidosis, depletes proteins and some antioxidants in various regions of rat brain. (18604117)
2008
3
Rab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cells. (17050734)
2007
4
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients. (11934514)
2002
5
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. (11309366)
2001
6
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients. (10491988)
1999
7
Feline sphingolipidosis resembling Niemann-Pick disease type C. (2127982)
1990
8
Isolation and characterization of cytoplasmic inclusion bodies from the grey matter of the formalin-fixed brain from new case of generalized sphingolipidosis with failure of myelination. (194074)
1977
9
Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis. (803227)
1975
10
Reversal of an inborn sphingolipidosis (Fabry's disease) by kidney transplantation. (4565790)
1972
11
A sphingolipidosis registry. (5688476)
1968
12
FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID. (14081947)
1963

Genetic Variations for Sphingolipidosis

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Expression for genes affiliated with Sphingolipidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sphingolipidosis

Search GEO for disease gene expression data for Sphingolipidosis.

Pathways for genes affiliated with Sphingolipidosis

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29KEGG, 37NCBI BioSystems Database, 53Reactome
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Pathways related to Sphingolipidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0GLA, PSAP
2
Hide members
8.5ASAH2, GLA, PSAP

Compounds for genes affiliated with Sphingolipidosis

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Sphingolipidosis according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1lactosylceramide449.2PSAP, GLA
2glycosphingolipid449.2GLA, PSAP
3glycolipid449.2PSAP, GLA
4ganglioside449.1PSAP, GLA
5sphingosine44 11 2411.1PSAP, ASAH2
6mannose 6-phosphate44 2410.1PSAP, GLA
7carbon448.9GLA, PSAP
8glucosylceramide44 249.8PSAP, GLA, ASAH2
9valine448.7GLA, PSAP
10ceramide448.7ASAH2, GLA, PSAP
11lipid448.5PSAP, GLA, ASAH2

GO Terms for genes affiliated with Sphingolipidosis

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16Gene Ontology
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Cellular components related to Sphingolipidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.0GLA, PSAP

Biological processes related to Sphingolipidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sphingolipid metabolic processGO:0066658.5ASAH2, GLA, PSAP
2glycosphingolipid metabolic processGO:0066878.2ASAH2, GLA, PSAP

Products for genes affiliated with Sphingolipidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sphingolipidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet