MCID: MTC076
MIFTS: 25

Metachromatic Leukodystrophy, Juvenile Form malady

Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Metachromatic Leukodystrophy, Juvenile Form

About this section
Sources:
32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Metachromatic Leukodystrophy, Juvenile Form, also known as arylsulfatase a deficiency, juvenile form, is related to metachromatic leukodystrophy and leukodystrophy. 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

About this section
Sources:
48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

metachromatic leukodystrophy, juvenile form 48
arylsulfatase a deficiency, juvenile form 48
leukodystrophy, metachromatic 60
mld, juvenile form 48


External Ids:

SNOMED-CT via Orphanet57 44359008
ICD10 via Orphanet26 E75.2

Related Diseases for Metachromatic Leukodystrophy, Juvenile Form

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to metachromatic leukodystrophy, juvenile form

Clinical Features for Metachromatic Leukodystrophy, Juvenile Form

About this section

Drugs & Therapeutics for Metachromatic Leukodystrophy, Juvenile Form

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Metachromatic Leukodystrophy, Juvenile Form

Drug clinical trials:

Search ClinicalTrials for Metachromatic Leukodystrophy, Juvenile Form

Search NIH Clinical Center for Metachromatic Leukodystrophy, Juvenile Form

Search CenterWatch for Metachromatic Leukodystrophy, Juvenile Form

Genetic Tests for Metachromatic Leukodystrophy, Juvenile Form

About this section

Anatomical Context for Metachromatic Leukodystrophy, Juvenile Form

About this section
Sources:
32MalaCards
See all sources

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

32
Eye

Animal Models for Metachromatic Leukodystrophy, Juvenile Form or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section

Genetic Variations for Metachromatic Leukodystrophy, Juvenile Form

About this section

Expression for genes affiliated with Metachromatic Leukodystrophy, Juvenile Form

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
29KEGG, 53Reactome
See all sources

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

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

Compounds for genes affiliated with Metachromatic Leukodystrophy, Juvenile Form

About this section
Sources:
44Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1galactosylceramide449.4PSAP, ARSA
2sulfatide449.3PSAP, ARSA
3glycosphingolipid449.3PSAP, ARSA
4ganglioside449.3ARSA, PSAP
5mannose 6-phosphate44 2410.2PSAP, ARSA
6sulfate44 2410.2ARSA, PSAP
7ceramide449.1PSAP, ARSA
8oligonucleotide449.1PSAP, ARSA
9valine449.0PSAP, ARSA
10hydrogen44 249.8PSAP, ARSA

GO Terms for genes affiliated with Metachromatic Leukodystrophy, Juvenile Form

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.1ARSA, 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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metachromatic Leukodystrophy, Juvenile Form

About this section
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