MCID: MTC076
MIFTS: 18

Metachromatic Leukodystrophy, Juvenile Form malady

Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases categories

Aliases & Classifications for Metachromatic Leukodystrophy, Juvenile Form

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Sources:
51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Metachromatic Leukodystrophy, Juvenile Form:

Name: Metachromatic Leukodystrophy, Juvenile Form 51
Arylsulfatase a Deficiency, Juvenile Form 51
 
Mld, Juvenile Form 51


Classifications:



External Ids:

Orphanet51 309263
ICD10 via Orphanet28 E75.2
UMLS via Orphanet66 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 alpha-mannosidosis, adult form and free sialic acid storage disease, 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:

33
Eye

Animal Models for Metachromatic Leukodystrophy, Juvenile Form or affiliated genes

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MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Juvenile Form:

38
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 pathways (with members indented)ScoreTop 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
1lysosomeGO:00057649.1ARSA, PSAP
2lysosomal lumenGO:00432028.8ARSA, PSAP

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

idNameGO IDScoreTop Affiliating Genes
1sphingolipid metabolic processGO:00066659.1ARSA, PSAP
2glycosphingolipid metabolic processGO:00066878.8ARSA, PSAP

Sources for Metachromatic Leukodystrophy, Juvenile Form

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet