MCID: SPH010
MIFTS: 34

Sphingolipidosis malady

Rare diseases, Metabolic diseases categories

Aliases & Classifications for Sphingolipidosis

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Aliases & Descriptions for Sphingolipidosis:

Name: Sphingolipidosis 8 42
Sphingolipidoses 8 42 44 61
 
Lipid Metabolism Disorders 61
Sphingolipidosis, Nos 8


Classifications:



External Ids:

Disease Ontology8 DOID:1927
MeSH33 D013106
SNOMED-CT56 238028008, 58459009
ICD1025 E75.3

Summaries for Sphingolipidosis

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Wikipedia:64 Sphingolipidoses (singular \"sphingolipidosis\") are a class of lipid storage disorders relating to... more...

MalaCards based summary: Sphingolipidosis, also known as sphingolipidoses, is related to gaucher's disease and niemann-pick 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 Galabiosylceramide (d18:1/22:0) and Galabiosylceramide (d18:1/20:0) have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and skin, and related mouse phenotype renal/urinary system.

Related Diseases for Sphingolipidosis

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Diseases related to Sphingolipidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher's disease30.5PSAP
2niemann-pick disease30.4ASAH2, PSAP
3tay-sachs disease30.1PSAP, GLA
4farber lipogranulomatosis30.0PSAP, ASAH2
5metachromatic leukodystrophy30.0GLA, PSAP
6fabry disease29.9GLA, PSAP
7lipogranulomatosis10.3ASAH2
8leukoencephalopathy with vanishing white matter10.2
9lipid storage disease10.1
10krabbe disease10.1
11niemann-pick disease, type c110.1ASAH2, PSAP
12atopic dermatitis10.0PSAP, ASAH2
13gangliosidosis gm110.0GLA, PSAP
14leukoencephalopathy with dystonia and motor neuropathy9.9
15gaucher disease, type i9.9
16gaucher disease, type ii9.9
17gaucher disease, type iii9.9
18gaucher disease, perinatal lethal9.9
19hypomyelination with brainstem and spinal cord involvement and leg spasticity9.9
20multiple sulfatase deficiency9.9
21leukoencephalopathy, diffuse hereditary, with spheroids9.9
22leukoencephalopathy, cystic, without megalencephaly9.9
23canavan disease9.9
24alexander disease9.9
25gaucher disease, atypical9.9
26pick disease9.9
27megalencephalic leukoencephalopathy with subcortical cysts9.9
28leukodystrophy, adult-onset, autosomal dominant9.9
29nasu-hakola disease9.9
30pol iii-related leukodystrophies9.9
31dermatoleukodystrophy9.9
32hypomyelination with atrophy of basal ganglia and cerebellum9.9
33leukodystrophy with oligodontia9.9
34pelizaeus-merzbacher-like disease9.9
35neurologic waardenburg-shah syndrome9.9
36encephalopathy due to prosaposin deficiency9.9
37leukoencephalopathy with brain stem and spinal cord involvement - high lactate9.9
38late infantile cach syndrome9.9
39juvenile or adult cach syndrome9.9
40congenital or early infantile cach syndrome9.9
41leukoencephalopathy with bilateral anterior temporal lobe cysts9.9
42progressive cavitating leukoencephalopathy9.9
43gaucher disease - ophthalmoplegia - cardiovascular calcification9.9
44pelizaeus-merzbacher-like disease due to aimp1 mutation9.9
45pelizaeus-merzbacher-like disease due to hspd1 mutation9.9
46pelizaeus-merzbacher disease, connatal form9.9
47pelizaeus-merzbacher disease, classic form9.9
48pelizaeus-merzbacher-like disease due to gjc2 mutation9.9
49null syndrome9.9
50pelizaeus-merzbacher disease, transitional form9.9

Graphical network of the top 20 diseases related to Sphingolipidosis:



Diseases related to sphingolipidosis

Symptoms for Sphingolipidosis

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Drugs & Therapeutics for Sphingolipidosis

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Drug clinical trials:

Search ClinicalTrials for Sphingolipidosis

Search NIH Clinical Center for Sphingolipidosis

Genetic Tests for Sphingolipidosis

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Anatomical Context for Sphingolipidosis

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MalaCards organs/tissues related to Sphingolipidosis:

31
Brain, Kidney, Skin

Animal Models for Sphingolipidosis or affiliated genes

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MGI Mouse Phenotypes related to Sphingolipidosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5GLA, RAB8A, PSAP

Publications for Sphingolipidosis

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Articles related to Sphingolipidosis:

(show all 13)
idTitleAuthorsYear
1
Visualization of the heterogeneous membrane distribution of sphingomyelin associated with cytokinesis, cell polarity, and sphingolipidosis. (25389132)
2014
2
Sustained activation of sphingomyelin synthase by 2-hydroxyoleic acid induces sphingolipidosis in tumor cells. (23471028)
2013
3
Arsenic induces oxidative stress, sphingolipidosis, depletes proteins and some antioxidants in various regions of rat brain. (18604117)
2008
4
Rab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cells. (17050734)
2007
5
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
6
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
7
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
8
Feline sphingolipidosis resembling Niemann-Pick disease type C. (2127982)
1990
9
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
10
Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis. (803227)
1975
11
Reversal of an inborn sphingolipidosis (Fabry's disease) by kidney transplantation. (4565790)
1972
12
A sphingolipidosis registry. (5688476)
1968
13
FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID. (14081947)
1963

Variations for Sphingolipidosis

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Expression for genes affiliated with Sphingolipidosis

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Search GEO for disease gene expression data for Sphingolipidosis.

Pathways for genes affiliated with Sphingolipidosis

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Pathways related to Sphingolipidosis according to GeneCards Suite gene sharing:

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

Compounds for genes affiliated with Sphingolipidosis

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Sources:
24HMDB, 44Novoseek, 11DrugBank
See all sources

Compounds related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 45)
idCompoundScoreTop Affiliating Genes
1Galabiosylceramide (d18:1/22:0)249.8ASAH2, GLA
2Galabiosylceramide (d18:1/20:0)249.8ASAH2, GLA
3Galabiosylceramide (d18:1/24:0)249.8GLA, ASAH2
4Galabiosylceramide (d18:1/9Z-18:1)249.8ASAH2, GLA
5Galabiosylceramide (d18:1/26:1(17Z))249.7ASAH2, GLA
6Galabiosylceramide (d18:1/26:0)249.7ASAH2, GLA
7Galabiosylceramide (d18:1/25:0)249.7ASAH2, GLA
8Galabiosylceramide (d18:1/24:1(15Z))249.7ASAH2, GLA
9Galabiosylceramide (d18:1/18:0)249.7ASAH2, GLA
10Galabiosylceramide (d18:1/16:0)249.7ASAH2, GLA
11Trihexosylceramide (d18:1/22:0)249.7GLA, ASAH2
12Trihexosylceramide (d18:1/20:0)249.7ASAH2, GLA
13Trihexosylceramide (d18:1/16:0)249.7GLA, ASAH2
14Trihexosylceramide (d18:1/9Z-18:1)249.7ASAH2, GLA
15Trihexosylceramide (d18:1/18:0)249.7ASAH2, GLA
16Trihexosylceramide (d18:1/12:0)249.7ASAH2, GLA
17Trihexosylceramide (d18:1/24:0)249.7GLA, ASAH2
18Trihexosylceramide (d18:1/26:1(17Z))249.7GLA, ASAH2
19Trihexosylceramide (d18:1/24:1(15Z))249.7GLA, ASAH2
20Trihexosylceramide (d18:1/25:0)249.7ASAH2, GLA
21Galactosylceramide (d18:1/18:0)249.7ASAH2, GLA
22Galactosylceramide (d18:1/26:1(17Z))249.7GLA, ASAH2
23Galactosylceramide (d18:1/24:1(15Z))249.6ASAH2, GLA
24Galactosylceramide (d18:1/22:0)249.6ASAH2, GLA
25Galactosylceramide (d18:1/16:0)249.6GLA, ASAH2
26Galactosylceramide (d18:1/18:1(9Z))249.6GLA, ASAH2
27Galactosylceramide (d18:1/20:0)249.6GLA, ASAH2
28Lactosylceramide (d18:1/26:1(17Z))249.6ASAH2, GLA
29Lactosylceramide (d18:1/26:0)249.6ASAH2, GLA
30Lactosylceramide (d18:1/12:0)249.6GLA, ASAH2
31Lactosylceramide (d18:1/16:0)249.5GLA, ASAH2
32Lactosylceramide (d18:1/24:1(15Z))249.5GLA, ASAH2
33Lactosylceramide (d18:1/25:0)249.5GLA, ASAH2
34lactosylceramide449.5GLA, PSAP
35glycosphingolipid449.5PSAP, GLA
363-O-Sulfogalactosylceramide (d18:1/24:0)249.5PSAP, ASAH2
37glycolipid449.5PSAP, GLA
38ganglioside449.1GLA, PSAP
39sphingosine44 24 1111.1ASAH2, PSAP
40mannose 6-phosphate44 2410.1GLA, PSAP
41valine449.0GLA, PSAP
42glucosylceramide44 2410.0GLA, ASAH2, PSAP
43ceramide448.9ASAH2, PSAP, GLA
44carbon448.9GLA, PSAP
45lipid448.2ASAH2, PSAP, GLA

GO Terms for genes affiliated with Sphingolipidosis

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Cellular components related to Sphingolipidosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.0GLA, PSAP

Biological processes related to Sphingolipidosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:00442818.5GLA, PSAP, ASAH2
2glycosphingolipid metabolic processGO:00066878.4GLA, PSAP, ASAH2
3sphingolipid metabolic processGO:00066658.2GLA, PSAP, ASAH2

Sources for Sphingolipidosis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet