MCID: MTC076
MIFTS: 18

Metachromatic Leukodystrophy, Juvenile Form malady

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

Aliases & Classifications for Metachromatic Leukodystrophy, Juvenile Form

Aliases & Descriptions for Metachromatic Leukodystrophy, Juvenile Form:

Name: Metachromatic Leukodystrophy, Juvenile Form 56
Arylsulfatase a Deficiency, Juvenile Form 56
Mld, Juvenile Form 56

Characteristics:

Orphanet epidemiological data:

56
metachromatic leukodystrophy, juvenile form
Age of onset: Adolescent,Childhood; Age of death: adolescent,late childhood,young Adult;

Classifications:



External Ids:

Orphanet 56 ORPHA309263
UMLS via Orphanet 70 C0751276
ICD10 via Orphanet 34 E75.2

Summaries for Metachromatic Leukodystrophy, Juvenile Form

MalaCards based summary : Metachromatic Leukodystrophy, Juvenile Form, also known as arylsulfatase a deficiency, juvenile form, is related to diffuse large b-cell lymphoma of the central nervous system and follicular cholangitis and pancreatitis. An important gene associated with Metachromatic Leukodystrophy, Juvenile Form is ARSA (Arylsulfatase A), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include eye, and related phenotype is hearing/vestibular/ear.

Related Diseases for Metachromatic Leukodystrophy, Juvenile Form

Graphical network of the top 20 diseases related to Metachromatic Leukodystrophy, Juvenile Form:



Diseases related to Metachromatic Leukodystrophy, Juvenile Form

Symptoms & Phenotypes for Metachromatic Leukodystrophy, Juvenile Form

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Juvenile Form:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 ARSA PSAP

Drugs & Therapeutics for Metachromatic Leukodystrophy, Juvenile Form

Search Clinical Trials , NIH Clinical Center for Metachromatic Leukodystrophy, Juvenile Form

Genetic Tests for Metachromatic Leukodystrophy, Juvenile Form

Anatomical Context for Metachromatic Leukodystrophy, Juvenile Form

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

39
Eye

Publications for Metachromatic Leukodystrophy, Juvenile Form

Variations for Metachromatic Leukodystrophy, Juvenile Form

ClinVar genetic disease variations for Metachromatic Leukodystrophy, Juvenile Form:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ARSA NM_000487.5(ARSA): c.465+1G> A single nucleotide variant Pathogenic rs80338815 GRCh37 Chromosome 22, 51065593: 51065593
2 ARSA NM_000487.5(ARSA): c.1283C> T (p.Pro428Leu) single nucleotide variant Pathogenic rs28940893 GRCh37 Chromosome 22, 51063820: 51063820
3 ARSA NM_000487.5(ARSA): c.542T> G (p.Ile181Ser) single nucleotide variant Pathogenic rs74315457 GRCh37 Chromosome 22, 51065404: 51065404
4 ARSA NM_000487.5(ARSA): c.1210+1G> A single nucleotide variant Pathogenic rs80338820 GRCh37 Chromosome 22, 51064006: 51064006
5 ARSA NM_000487.5(ARSA): c.1279C> A (p.Pro427Thr) single nucleotide variant Pathogenic rs74315485 GRCh37 Chromosome 22, 51063824: 51063824

Expression for Metachromatic Leukodystrophy, Juvenile Form

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

Pathways for Metachromatic Leukodystrophy, Juvenile Form

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 ARSA PSAP
2 10.71 ARSA PSAP

GO Terms for Metachromatic Leukodystrophy, Juvenile Form

Cellular components related to Metachromatic Leukodystrophy, Juvenile Form according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.96 ARSA PSAP
2 lysosomal lumen GO:0043202 8.62 ARSA PSAP

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

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.96 ARSA PSAP
2 glycosphingolipid metabolic process GO:0006687 8.62 ARSA PSAP

Sources for Metachromatic Leukodystrophy, Juvenile Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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