MCID: SPH010
MIFTS: 37

Sphingolipidosis malady

Rare diseases category

Summaries for Sphingolipidosis

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66Wikipedia, 34MalaCards
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Wikipedia:66 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 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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9Disease Ontology, 44NIH Rare Diseases, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH, 26ICD10
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Classifications:

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


Aliases & Descriptions:

sphingolipidosis 9 44
sphingolipidoses 9 44 46 63
sphingolipidosis, nos 9


External Ids:

Disease Ontology9 DOID:1927
MeSH36 D013106
SNOMED-CT59 58459009, 238028008
ICD1026 E75.3

Related Diseases for Sphingolipidosis

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Sphingolipidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease30.3ASAH2, PSAP
2tay-sachs disease30.2PSAP, GLA
3gaucher's disease30.2PSAP
4fabry disease30.0GLA, PSAP
5farber lipogranulomatosis29.9PSAP, ASAH2
6metachromatic leukodystrophy29.8GLA, PSAP
7childhood ataxia with central nervous system hypomyelination/vanishing white matter10.2
8pol iii-related leukodystrophies10.2
9lipogranulomatosis10.1ASAH2
10krabbe disease10.1
11gaucher disease perinatal lethal10.1
12lipid storage disease10.1
13atopic dermatitis10.0PSAP, ASAH2
14gangliosidosis gm110.0GLA, PSAP
15lysosomal storage disease9.9PSAP, GLA
16alexander disease9.9
17pelizaeus-merzbacher disease9.9
18mucosulfatidosis9.9
19canavan disease9.9
20gaucher disease type 29.9
21gaucher disease type 39.9
22leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation9.9
23megalencephalic leukoencephalopathy with subcortical cysts9.9
24polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy9.9
25dermatoleukodystrophy9.9
26hereditary diffuse leukoencephalopathy with spheroids9.9
27hypomyelination with atrophy of basal ganglia and cerebellum9.9
28leukodystrophy, hypomyelinating 39.9
29niemann-pick disease type c19.9
30leukodystrophy, adult-onset, autosomal dominant9.9
31leukoencephalopathy, cystic, without megalencephaly9.9
32leukoencephalopathy with dystonia and motor neuropathy9.9
33gaucher disease, type iiic9.9
34leukodystrophy, hypomyelinating, 29.9
35hypomyelination with brainstem and spinal cord involvement and leg spasticity9.9
36leukodystrophy, hypomyelinating, 49.9
37leukoencephalopathy with ataxia9.9
38gaucher disease, atypical9.9
39combined sap deficiency9.9
40pcwh syndrome9.9
41leukoencephalopathy with bilateral anterior temporal lobe cysts9.9
42progressive cavitating leukoencephalopathy9.9
43pelizaeus-merzbacher disease, connatal form9.9
44pelizaeus-merzbacher disease, classic form9.9
45null syndrome9.9
46pelizaeus-merzbacher disease, transitional form9.9
47pelizaeus-merzbacher disease in female carriers9.9
48infantile krabbe disease9.9
49late-infantile/juvenile krabbe disease9.9
50adult krabbe disease9.9

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Sphingolipidosis

Drug clinical trials:

Search ClinicalTrials for Sphingolipidosis

Search NIH Clinical Center for Sphingolipidosis

Search CenterWatch for Sphingolipidosis

Genetic Tests for Sphingolipidosis

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Anatomical Context for Sphingolipidosis

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34MalaCards
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MalaCards organs/tissues related to Sphingolipidosis:

34
Brain, Kidney, Skin

Animal Models for Sphingolipidosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Sphingolipidosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5GLA, RAB8A, PSAP

Publications for Sphingolipidosis

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53PubMed
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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

Variations for Sphingolipidosis

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Expression for genes affiliated with Sphingolipidosis

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Sources:
2BioGPS, 16Gene 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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Sources:
51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database
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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:
25HMDB, 46Novoseek, 12DrugBank
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Compounds related to Sphingolipidosis according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1Galabiosylceramide (d18:1/24:1(15Z))259.8ASAH2, GLA
2Galabiosylceramide (d18:1/25:0)259.8GLA, ASAH2
3Galabiosylceramide (d18:1/26:0)259.8GLA, ASAH2
4Galabiosylceramide (d18:1/26:1(17Z))259.8GLA, ASAH2
5Galabiosylceramide (d18:1/9Z-18:1)259.7GLA, ASAH2
6Galabiosylceramide (d18:1/24:0)259.7ASAH2, GLA
7Galabiosylceramide (d18:1/16:0)259.7GLA, ASAH2
8Galabiosylceramide (d18:1/18:0)259.7GLA, ASAH2
9Galabiosylceramide (d18:1/20:0)259.7GLA, ASAH2
10Galabiosylceramide (d18:1/22:0)259.7GLA, ASAH2
11Trihexosylceramide (d18:1/24:0)259.7ASAH2, GLA
12Trihexosylceramide (d18:1/24:1(15Z))259.7GLA, ASAH2
13Trihexosylceramide (d18:1/25:0)259.7GLA, ASAH2
14Trihexosylceramide (d18:1/26:1(17Z))259.7GLA, ASAH2
15Trihexosylceramide (d18:1/9Z-18:1)259.7GLA, ASAH2
16Trihexosylceramide (d18:1/22:0)259.7ASAH2, GLA
17Trihexosylceramide (d18:1/12:0)259.7GLA, ASAH2
18Trihexosylceramide (d18:1/16:0)259.7GLA, ASAH2
19Trihexosylceramide (d18:1/18:0)259.7GLA, ASAH2
20Trihexosylceramide (d18:1/20:0)259.7GLA, ASAH2
21Galactosylceramide (d18:1/20:0)259.7ASAH2, GLA
22Galactosylceramide (d18:1/22:0)259.7GLA, ASAH2
23Galactosylceramide (d18:1/24:1(15Z))259.7GLA, ASAH2
24Galactosylceramide (d18:1/26:1(17Z))259.6GLA, ASAH2
25Galactosylceramide (d18:1/18:1(9Z))259.6ASAH2, GLA
26Galactosylceramide (d18:1/16:0)259.6GLA, ASAH2
27Galactosylceramide (d18:1/18:0)259.6GLA, ASAH2
28Lactosylceramide (d18:1/26:1(17Z))259.6ASAH2, GLA
29Lactosylceramide (d18:1/26:0)259.6ASAH2, GLA
30Lactosylceramide (d18:1/25:0)259.6ASAH2, GLA
31Lactosylceramide (d18:1/24:1(15Z))259.5ASAH2, GLA
32Lactosylceramide (d18:1/16:0)259.5ASAH2, GLA
33Lactosylceramide (d18:1/12:0)259.5ASAH2, GLA
34lactosylceramide469.5GLA, PSAP
35glycosphingolipid469.5GLA, PSAP
36glycolipid469.5PSAP, GLA
373-O-Sulfogalactosylceramide (d18:1/24:0)259.4PSAP, ASAH2
38ganglioside469.1GLA, PSAP
39sphingosine46 25 1211.1PSAP, ASAH2
40mannose 6-phosphate46 2510.1PSAP, GLA
41valine469.0GLA, PSAP
42glucosylceramide46 2510.0GLA, PSAP, ASAH2
43ceramide468.9ASAH2, PSAP, GLA
44carbon468.9GLA, PSAP
45lipid468.2ASAH2, PSAP, GLA

GO Terms for genes affiliated with Sphingolipidosis

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17Gene 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
1small molecule metabolic processGO:0442818.5GLA, PSAP, ASAH2
2glycosphingolipid metabolic processGO:0066878.4GLA, PSAP, ASAH2
3sphingolipid metabolic processGO:0066658.2GLA, PSAP, ASAH2

Products for genes affiliated with Sphingolipidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sphingolipidosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet