MCID: MTC076
MIFTS: 19

Metachromatic Leukodystrophy, Juvenile Form

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

Aliases & Classifications for Metachromatic Leukodystrophy, Juvenile Form

MalaCards integrated aliases for Metachromatic Leukodystrophy, Juvenile Form:

Name: Metachromatic Leukodystrophy, Juvenile Form 55
Arylsulfatase a Deficiency, Juvenile Form 55
Mld, Juvenile Form 55

Characteristics:

Orphanet epidemiological data:

55
metachromatic leukodystrophy, juvenile form
Age of onset: Adolescent,Childhood; Age of death: adolescent,late childhood,young Adult;

Classifications:



External Ids:

Orphanet 55 ORPHA309263
UMLS via Orphanet 70 C0751276
ICD10 via Orphanet 33 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 metachromatic leukodystrophy, adult form and metachromatic leukodystrophy, late infantile form. 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

Diseases in the Metachromatic Leukodystrophy family:

Metachromatic Leukodystrophy, Adult Form Metachromatic Leukodystrophy, Late Infantile Form
Metachromatic Leukodystrophy, Juvenile Form

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

# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy, adult form 9.8 ARSA PSAP
2 metachromatic leukodystrophy, late infantile form 9.7 ARSA PSAP
3 inclusion-cell disease 9.7 ARSA PSAP
4 krabbe disease 9.7 ARSA PSAP
5 sphingolipidosis 9.7 ARSA PSAP
6 tay-sachs disease 9.7 ARSA PSAP
7 metachromatic leukodystrophy 9.6 ARSA PSAP
8 lipid storage disease 9.6 ARSA PSAP
9 gaucher's disease 9.5 ARSA PSAP
10 leukodystrophy 9.4 ARSA PSAP

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:

43
# 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:

38
Eye

Publications for Metachromatic Leukodystrophy, Juvenile Form

Variations for Metachromatic Leukodystrophy, Juvenile Form

ClinVar genetic disease variations for Metachromatic Leukodystrophy, Juvenile Form:

6
# 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/Likely 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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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