MCID: SPH010
MIFTS: 38

Sphingolipidosis malady

Rare diseases, Metabolic diseases categories

Summaries for Sphingolipidosis

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Wikipedia:65 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 (d18:1/24:1(15Z)) and Galabiosylceramide (d18:1/25:0) have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and skin, and related mouse phenotype renal/urinary system.

Aliases & Classifications for Sphingolipidosis

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Sphingolipidosis, Aliases & Descriptions:

Name: Sphingolipidosis 10 43
Sphingolipidoses 10 43 45 62
 
Sphingolipidosis, Nos 10


Classifications:

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


External Ids:

Disease Ontology10 DOID:1927
MeSH35 D013106
SNOMED-CT57 238028008, 58459009
ICD1027 E75.3

Related Diseases for Sphingolipidosis

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

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher's disease30.3PSAP
2niemann-pick disease30.3ASAH2, PSAP
3tay-sachs disease30.2PSAP, GLA
4metachromatic leukodystrophy30.1GLA, PSAP
5fabry disease30.1GLA, PSAP
6farber lipogranulomatosis29.9PSAP, ASAH2
7leukoencephalopathy with vanishing white matter10.2
8lipid storage disease10.1
9krabbe disease10.1
10lipogranulomatosis10.0ASAH2
11niemann-pick disease, type c110.0ASAH2, PSAP
12atopic dermatitis10.0PSAP, ASAH2
13gangliosidosis gm110.0GLA, PSAP
14lysosomal storage disease10.0PSAP, GLA
15leukoencephalopathy with dystonia and motor neuropathy9.9
16gaucher disease, type i9.9
17gaucher disease, type ii9.9
18gaucher disease, type iii9.9
19gaucher disease, perinatal lethal9.9
20hypomyelination with brainstem and spinal cord involvement and leg spasticity9.9
21multiple sulfatase deficiency9.9
22leukoencephalopathy, diffuse hereditary, with spheroids9.9
23leukoencephalopathy, cystic, without megalencephaly9.9
24canavan disease9.9
25alexander disease9.9
26gaucher disease, atypical9.9
27pick disease9.9
28megalencephalic leukoencephalopathy with subcortical cysts9.9
29leukodystrophy, adult-onset, autosomal dominant9.9
30nasu-hakola disease9.9
31pol iii-related leukodystrophies9.9
32dermatoleukodystrophy9.9
33hypomyelination with atrophy of basal ganglia and cerebellum9.9
34leukodystrophy with oligodontia9.9
35pelizaeus-merzbacher-like disease9.9
36neurologic waardenburg-shah syndrome9.9
37encephalopathy due to prosaposin deficiency9.9
38leukoencephalopathy with brain stem and spinal cord involvement - high lactate9.9
39late infantile cach syndrome9.9
40juvenile or adult cach syndrome9.9
41congenital or early infantile cach syndrome9.9
42leukoencephalopathy with bilateral anterior temporal lobe cysts9.9
43progressive cavitating leukoencephalopathy9.9
44gaucher disease - ophthalmoplegia - cardiovascular calcification9.9
45pelizaeus-merzbacher-like disease due to aimp1 mutation9.9
46pelizaeus-merzbacher-like disease due to hspd1 mutation9.9
47pelizaeus-merzbacher disease, connatal form9.9
48pelizaeus-merzbacher disease, classic form9.9
49pelizaeus-merzbacher-like disease due to gjc2 mutation9.9
50null syndrome9.9

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:

33
Brain, Kidney, Skin

Animal Models for Sphingolipidosis or affiliated genes

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MGI Mouse Phenotypes related to Sphingolipidosis:

37
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/GeneDecks:

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:
26HMDB, 45Novoseek, 13DrugBank
See all sources

Compounds related to Sphingolipidosis according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1Galabiosylceramide (d18:1/24:1(15Z))269.8ASAH2, GLA
2Galabiosylceramide (d18:1/25:0)269.8GLA, ASAH2
3Galabiosylceramide (d18:1/26:0)269.8GLA, ASAH2
4Galabiosylceramide (d18:1/26:1(17Z))269.8GLA, ASAH2
5Galabiosylceramide (d18:1/9Z-18:1)269.7GLA, ASAH2
6Galabiosylceramide (d18:1/24:0)269.7ASAH2, GLA
7Galabiosylceramide (d18:1/16:0)269.7GLA, ASAH2
8Galabiosylceramide (d18:1/18:0)269.7GLA, ASAH2
9Galabiosylceramide (d18:1/20:0)269.7GLA, ASAH2
10Galabiosylceramide (d18:1/22:0)269.7GLA, ASAH2
11Trihexosylceramide (d18:1/24:0)269.7ASAH2, GLA
12Trihexosylceramide (d18:1/24:1(15Z))269.7GLA, ASAH2
13Trihexosylceramide (d18:1/25:0)269.7GLA, ASAH2
14Trihexosylceramide (d18:1/26:1(17Z))269.7GLA, ASAH2
15Trihexosylceramide (d18:1/9Z-18:1)269.7GLA, ASAH2
16Trihexosylceramide (d18:1/22:0)269.7ASAH2, GLA
17Trihexosylceramide (d18:1/12:0)269.7GLA, ASAH2
18Trihexosylceramide (d18:1/16:0)269.7GLA, ASAH2
19Trihexosylceramide (d18:1/18:0)269.7GLA, ASAH2
20Trihexosylceramide (d18:1/20:0)269.7GLA, ASAH2
21Galactosylceramide (d18:1/20:0)269.7ASAH2, GLA
22Galactosylceramide (d18:1/22:0)269.7GLA, ASAH2
23Galactosylceramide (d18:1/24:1(15Z))269.7GLA, ASAH2
24Galactosylceramide (d18:1/26:1(17Z))269.6GLA, ASAH2
25Galactosylceramide (d18:1/18:1(9Z))269.6ASAH2, GLA
26Galactosylceramide (d18:1/16:0)269.6GLA, ASAH2
27Galactosylceramide (d18:1/18:0)269.6GLA, ASAH2
28Lactosylceramide (d18:1/26:1(17Z))269.6ASAH2, GLA
29Lactosylceramide (d18:1/26:0)269.6ASAH2, GLA
30Lactosylceramide (d18:1/25:0)269.6ASAH2, GLA
31Lactosylceramide (d18:1/24:1(15Z))269.5ASAH2, GLA
32Lactosylceramide (d18:1/16:0)269.5ASAH2, GLA
33Lactosylceramide (d18:1/12:0)269.5ASAH2, GLA
34lactosylceramide459.5GLA, PSAP
35glycosphingolipid459.5GLA, PSAP
36glycolipid459.5PSAP, GLA
373-O-Sulfogalactosylceramide (d18:1/24:0)269.4PSAP, ASAH2
38ganglioside459.1GLA, PSAP
39sphingosine45 26 1311.1PSAP, ASAH2
40mannose 6-phosphate45 2610.1PSAP, GLA
41valine459.0GLA, PSAP
42glucosylceramide45 2610.0GLA, PSAP, ASAH2
43ceramide458.9ASAH2, PSAP, GLA
44carbon458.9GLA, PSAP
45lipid458.2ASAH2, PSAP, GLA

GO Terms for genes affiliated with Sphingolipidosis

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Cellular components related to Sphingolipidosis according to GeneCards/GeneDecks:

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

Biological processes related to Sphingolipidosis according to GeneCards/GeneDecks:

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

Products for genes affiliated with Sphingolipidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Sphingolipidosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet