MCID: MTC076
MIFTS: 18

Metachromatic Leukodystrophy, Juvenile Form malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Metachromatic Leukodystrophy, Juvenile Form

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Sources:
52Orphanet, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Metachromatic Leukodystrophy, Juvenile Form:

Name: Metachromatic Leukodystrophy, Juvenile Form 52
Arylsulfatase a Deficiency, Juvenile Form 52
 
Mld, Juvenile Form 52

Characteristics:

Orphanet epidemiological data:

52
metachromatic leukodystrophy, juvenile form:
Age of onset: Adolescent,Childhood; Age of death: adolescent,late childhood,young Adult

Classifications:



External Ids:

Orphanet52 ORPHA309263
ICD10 via Orphanet29 E75.2
UMLS via Orphanet67 C0751276

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 metachromatic leukodystrophy, late infantile form and tay-sachs disease, b variant, infantile form. An important gene associated with Metachromatic Leukodystrophy, Juvenile Form is PSAP (Prosaposin), and among its related pathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include eye, and related mouse phenotype hearing/vestibular/ear.

Related Diseases for Metachromatic Leukodystrophy, Juvenile Form

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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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Interventional clinical trials:

Search ClinicalTrials, 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:

34
Eye

Animal Models for Metachromatic Leukodystrophy, Juvenile Form or affiliated genes

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MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Juvenile Form:

39
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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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ARSA, PSAP
29.1ARSA, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.1ARSA, PSAP

Biological processes related to Metachromatic Leukodystrophy, Juvenile Form according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid metabolic processGO:00066879.1ARSA, PSAP

Sources for Metachromatic Leukodystrophy, Juvenile Form

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet