MCID: CRB018
MIFTS: 24

Cerebral Lipidosis malady

Summaries for Cerebral Lipidosis

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32MalaCards
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MalaCards: Cerebral Lipidosis, also known as cerebral lipidoses nos, is related to gangliosidosis and metachromatic leukodystrophy. An important gene associated with Cerebral Lipidosis is ARSA (arylsulfatase A), and among its related pathways are Lysosome and Sphingolipid metabolism. The compounds cerebroside and ganglioside have been mentioned in the context of this disorder. Related mouse phenotype hearing/vestibular/ear.

Aliases & Classifications for Cerebral Lipidosis

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8Disease Ontology, 10DISEASES, 60UMLS, 56SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

cerebral lipidosis 8 10 60
cerebral lipidoses nos 8


External Ids:

Disease Ontology8 DOID:10742
ICD9CM27 330.1

Related Diseases for Cerebral Lipidosis

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1gangliosidosis30.1HEXA
2metachromatic leukodystrophy30.0ARSA
3tay-sachs disease30.0HEXA, ARSA
4dementia30.0ARSA, HEXA
5cerebritis10.6
6leukodystrophy10.1
7speech disorder10.1
8krabbe disease10.0ARSA
9mucolipidosis10.0ARSA
10gangliosidosis gm110.0ARSA, HEXA
11sandhoff disease10.0ARSA, HEXA
12gaucher's disease10.0ARSA, HEXA
13lysosomal storage disease10.0ARSA, HEXA
14mucopolysaccharidosis10.0ARSA, HEXA
15metabolic syndrome x10.0ARSA, HEXA

Graphical network of diseases related to Cerebral Lipidosis:



Diseases related to cerebral lipidosis

Clinical Features for Cerebral Lipidosis

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Drugs & Therapeutics for Cerebral Lipidosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cerebral Lipidosis

Drug clinical trials:

Search ClinicalTrials for Cerebral Lipidosis

Search NIH Clinical Center for Cerebral Lipidosis

Search CenterWatch for Cerebral Lipidosis

Genetic Tests for Cerebral Lipidosis

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Anatomical Context for Cerebral Lipidosis

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Animal Models for Cerebral Lipidosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cerebral Lipidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ARSA, HEXA

Publications for Cerebral Lipidosis

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50PubMed
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Articles related to Cerebral Lipidosis:

(show all 13)
idTitleAuthorsYear
1
A sporadic case of cerebral lipidosis in an adult (Kufs)--pathological and histochemical findings. (5068472)
1972
2
Studies on cerebral lipidosis. Prenatal diagnosis of Tay-Sachs disease. (5004836)
1971
3
Studies on cerebral lipidosis. Enzymatic study of G M2 -gangliosidosis. (4998880)
1971
4
Gm1-gangliosidosis and juvenile cerebral lipidosis. Clinical, histochemical, and chemical study. (5089899)
1971
5
Adult cerebral lipidosis. A case of Kufs's disease. (5457866)
1970
6
Studies on cerebral lipidosis. Enzymatic diagnosis of metachromatic leukodystrophy. (4993715)
1970
7
Progressive dementia in childhood due to cerebral lipidosis. (5349188)
1969
8
EEG patterns in juvenile cerebral lipidosis. (4184160)
1969
9
Cerebral lipidosis in the dog. (5656558)
1968
10
Early childhood cerebral lipidosis with prominent myoclonus. Ultrastructural and histochemical studies of a cerebral biopsy. (5634370)
1968
11
An electronmicroscopical study of a case of atypical cerebral lipidosis. (4963519)
1967
12
Evolution of a characteristic speech disorder in juvenile cerebral lipidosis (Spielmeyervogt Syndrome). (5857766)
1965
13
Cerebral lipidosis: an electroencephalographic study. (12978168)
1952

Genetic Variations for Cerebral Lipidosis

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Expression for genes affiliated with Cerebral Lipidosis

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

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Pathways for genes affiliated with Cerebral Lipidosis

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29KEGG, 53Reactome
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Pathways related to Cerebral Lipidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ARSA, HEXA
2
Hide members
9.1ARSA, HEXA

Compounds for genes affiliated with Cerebral Lipidosis

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44Novoseek, 24HMDB
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Compounds related to Cerebral Lipidosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cerebroside449.2ARSA, HEXA
2ganglioside449.2ARSA, HEXA
3n-acetylglucosamine449.1ARSA, HEXA
4heparan sulfate44 2410.1ARSA, HEXA
5mannose 6-phosphate44 2410.0HEXA, ARSA
6mannose448.8ARSA, HEXA

GO Terms for genes affiliated with Cerebral Lipidosis

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.1ARSA, HEXA

Biological processes related to Cerebral Lipidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sphingolipid metabolic processGO:0066659.1ARSA, HEXA
2glycosphingolipid metabolic processGO:0066878.8ARSA, HEXA

Products for genes affiliated with Cerebral Lipidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebral Lipidosis

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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