MCID: SPH010
MIFTS: 38

Sphingolipidosis malady

Rare diseases, Metabolic diseases categories

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 (d18:1/24:1(15Z)) and Galabiosylceramide (d18:1/9Z-18:1) 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 9 42
Sphingolipidoses 9 42 44 61
 
Sphingolipidosis, Nos 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:1927
MeSH34 D013106
SNOMED-CT56 238028008, 58459009
ICD1026 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 65)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher's disease30.5PSAP
2niemann-pick disease30.5ASAH2, PSAP
3tay-sachs disease30.1PSAP, GLA
4farber lipogranulomatosis30.0PSAP, ASAH2
5niemann-pick disease type c130.0ASAH2, PSAP
6fabry disease29.9GLA, PSAP
7metachromatic leukodystrophy29.8GLA, PSAP
8childhood ataxia with central nervous system hypomyelination/vanishing white matter10.3
9lipogranulomatosis10.3ASAH2
10krabbe disease10.1
11pol iii-related leukodystrophies10.1
12leukodystrophy, hypomyelinating 310.1
13lipid storage disease10.1
14atopic dermatitis10.0PSAP, ASAH2
15gm1 gangliosidosis type 110.0GLA, PSAP
16pelizaeus-merzbacher disease9.9
17mucosulfatidosis9.9
18alexander disease9.9
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
26gaucher disease perinatal lethal9.9
27hereditary diffuse leukoencephalopathy with spheroids9.9
28hypomyelination with atrophy of basal ganglia and cerebellum9.9
29leukodystrophy, adult-onset, autosomal dominant9.9
30leukoencephalopathy, cystic, without megalencephaly9.9
31leukoencephalopathy with dystonia and motor neuropathy9.9
32gaucher disease, type iiic9.9
33leukodystrophy, hypomyelinating, 29.9
34hypomyelination with brainstem and spinal cord involvement and leg spasticity9.9
35leukodystrophy, hypomyelinating, 49.9
36leukoencephalopathy with ataxia9.9
37metachromatic leukodystrophy due to sap-b deficiency9.9
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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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:

32
Brain, Kidney, Skin

Animal Models for Sphingolipidosis or affiliated genes

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MGI Mouse Phenotypes related to Sphingolipidosis:

36
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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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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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, 44Novoseek, 12DrugBank
See all sources

Compounds related to Sphingolipidosis according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1Galabiosylceramide (d18:1/24:1(15Z))259.8ASAH2, GLA
2Galabiosylceramide (d18:1/9Z-18:1)259.8ASAH2, GLA
3Galabiosylceramide (d18:1/16:0)259.8ASAH2, GLA
4Galabiosylceramide (d18:1/26:1(17Z))259.8ASAH2, GLA
5Galabiosylceramide (d18:1/26:0)259.7ASAH2, GLA
6Galabiosylceramide (d18:1/18:0)259.7ASAH2, GLA
7Galabiosylceramide (d18:1/20:0)259.7ASAH2, GLA
8Galabiosylceramide (d18:1/25:0)259.7ASAH2, GLA
9Galabiosylceramide (d18:1/24:0)259.7ASAH2, GLA
10Galabiosylceramide (d18:1/22:0)259.7ASAH2, GLA
11Trihexosylceramide (d18:1/12:0)259.7ASAH2, GLA
12Trihexosylceramide (d18:1/24:0)259.7GLA, ASAH2
13Trihexosylceramide (d18:1/22:0)259.7GLA, ASAH2
14Trihexosylceramide (d18:1/20:0)259.7GLA, ASAH2
15Trihexosylceramide (d18:1/18:0)259.7GLA, ASAH2
16Trihexosylceramide (d18:1/16:0)259.7GLA, ASAH2
17Trihexosylceramide (d18:1/26:1(17Z))259.7GLA, ASAH2
18Trihexosylceramide (d18:1/9Z-18:1)259.7GLA, ASAH2
19Trihexosylceramide (d18:1/25:0)259.7GLA, ASAH2
20Trihexosylceramide (d18:1/24:1(15Z))259.7GLA, ASAH2
21Galactosylceramide (d18:1/24:1(15Z))259.7ASAH2, GLA
22Galactosylceramide (d18:1/22:0)259.7ASAH2, GLA
23Galactosylceramide (d18:1/20:0)259.7ASAH2, GLA
24Galactosylceramide (d18:1/18:1(9Z))259.6ASAH2, GLA
25Galactosylceramide (d18:1/18:0)259.6ASAH2, GLA
26Galactosylceramide (d18:1/16:0)259.6ASAH2, GLA
27Galactosylceramide (d18:1/26:1(17Z))259.6ASAH2, GLA
28Lactosylceramide (d18:1/25:0)259.6GLA, ASAH2
29Lactosylceramide (d18:1/12:0)259.6ASAH2, GLA
30Lactosylceramide (d18:1/16:0)259.6ASAH2, GLA
31Lactosylceramide (d18:1/24:1(15Z))259.5ASAH2, GLA
32Lactosylceramide (d18:1/26:0)259.5ASAH2, GLA
33Lactosylceramide (d18:1/26:1(17Z))259.5ASAH2, GLA
34lactosylceramide449.5GLA, PSAP
35glycosphingolipid449.5PSAP, GLA
36glycolipid449.5GLA, PSAP
373-O-Sulfogalactosylceramide (d18:1/24:0)259.4ASAH2, PSAP
38ganglioside449.1PSAP, GLA
39sphingosine44 25 1211.1PSAP, ASAH2
40mannose 6-phosphate44 2510.1PSAP, GLA
41valine449.0PSAP, GLA
42glucosylceramide44 2510.0GLA, PSAP, ASAH2
43ceramide448.9GLA, PSAP, ASAH2
44carbon448.9GLA, PSAP
45lipid448.2PSAP, ASAH2, 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: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
  • Proteins
  • Kits and Assays

Sources for Sphingolipidosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet