MCID: MTC076
MIFTS: 25

Metachromatic Leukodystrophy, Juvenile Form malady

Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases categories
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Summaries for Metachromatic Leukodystrophy, Juvenile Form

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MalaCards based summary: Metachromatic Leukodystrophy, Juvenile Form, also known as arylsulfatase a deficiency, juvenile form, is related to leukodystrophy and gm1 gangliosidosis type 1. An important gene associated with Metachromatic Leukodystrophy, Juvenile Form is PSAP (prosaposin), and among its related pathways are Lysosome and Sphingolipid metabolism. The compounds galactosylceramide and sulfatide have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotype hearing/vestibular/ear.

Aliases & Classifications for Metachromatic Leukodystrophy, Juvenile Form

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Sources:
48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Metachromatic Leukodystrophy, Juvenile Form, Aliases & Descriptions:

Name: Metachromatic Leukodystrophy, Juvenile Form 48
Arylsulfatase a Deficiency, Juvenile Form 48
 
Mld, Juvenile Form 48


Classifications:

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


External Ids:

ICD10 via Orphanet26 E75.2
UMLS via Orphanet63 C0751276

Related Diseases for Metachromatic Leukodystrophy, Juvenile Form

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Diseases in the Metachromatic Leukodystrophy, Juvenile Form family:

Metachromatic Leukodystrophy, Adult Form

Diseases related to Metachromatic Leukodystrophy, Juvenile Form via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy10.1PSAP
2gm1 gangliosidosis type 110.0ARSA, PSAP
3sphingolipidosis10.0ARSA, PSAP
4tay-sachs disease10.0PSAP, ARSA
5krabbe disease9.9ARSA, PSAP
6metachromatic leukodystrophy9.9PSAP, ARSA
7fabry disease9.9PSAP, ARSA
8lysosomal storage disease9.9PSAP, ARSA
9gaucher's disease9.8ARSA, PSAP

Graphical network of diseases related to Metachromatic Leukodystrophy, Juvenile Form:



Diseases related to metachromatic leukodystrophy, juvenile form

Symptoms for Metachromatic Leukodystrophy, Juvenile Form

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Drugs & Therapeutics for Metachromatic Leukodystrophy, Juvenile Form

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Drug clinical trials:

Search ClinicalTrials for Metachromatic Leukodystrophy, Juvenile Form

Search NIH Clinical Center for Metachromatic Leukodystrophy, Juvenile Form

Genetic Tests for Metachromatic Leukodystrophy, Juvenile Form

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Anatomical Context for Metachromatic Leukodystrophy, Juvenile Form

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MalaCards organs/tissues related to Metachromatic Leukodystrophy, Juvenile Form:

32
Eye

Animal Models for Metachromatic Leukodystrophy, Juvenile Form or affiliated genes

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MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Juvenile Form:

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

Publications for Metachromatic Leukodystrophy, Juvenile Form

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Variations for Metachromatic Leukodystrophy, Juvenile Form

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Expression for genes affiliated with Metachromatic Leukodystrophy, Juvenile Form

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Expression patterns in normal tissues for genes affiliated with Metachromatic Leukodystrophy, Juvenile Form

Search GEO for disease gene expression data for Metachromatic Leukodystrophy, Juvenile Form.

Pathways for genes affiliated with Metachromatic Leukodystrophy, Juvenile Form

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Pathways related to Metachromatic Leukodystrophy, Juvenile Form according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ARSA, PSAP
2
Show member pathways
9.1ARSA, PSAP

Compounds for genes affiliated with Metachromatic Leukodystrophy, Juvenile Form

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Sources:
44Novoseek, 24HMDB
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Compounds related to Metachromatic Leukodystrophy, Juvenile Form according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1galactosylceramide449.4ARSA, PSAP
2sulfatide449.4ARSA, PSAP
3glycosphingolipid449.4ARSA, PSAP
43-O-Sulfogalactosylceramide (d18:1/24:0)249.4PSAP, ARSA
5ganglioside449.3ARSA, PSAP
6mannose 6-phosphate44 2410.3ARSA, PSAP
7sulfate44 2410.3PSAP, ARSA
8ceramide449.2ARSA, PSAP
9valine449.2ARSA, PSAP
10hydrogen44 2410.1PSAP, ARSA
11lipid449.1ARSA, PSAP
12oligonucleotide449.0ARSA, PSAP
13cysteine448.8ARSA, PSAP

GO Terms for genes affiliated with Metachromatic Leukodystrophy, Juvenile Form

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Cellular components related to Metachromatic Leukodystrophy, Juvenile Form according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.1ARSA, PSAP
2lysosomal lumenGO:0432028.8ARSA, PSAP

Biological processes related to Metachromatic Leukodystrophy, Juvenile Form according to GeneCards/GeneDecks:

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

Products for genes affiliated with Metachromatic Leukodystrophy, Juvenile Form

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  • Antibodies
  • Proteins
  • Lysates

Sources for Metachromatic Leukodystrophy, Juvenile Form

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet