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:
31ICD10 via Orphanet, 54Orphanet, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Metachromatic Leukodystrophy, Juvenile Form:

Name: Metachromatic Leukodystrophy, Juvenile Form 54
Arylsulfatase a Deficiency, Juvenile Form 54
 
Mld, Juvenile Form 54

Characteristics:

Orphanet epidemiological data:

54
metachromatic leukodystrophy, juvenile form:
Age of onset: Adolescent,Childhood; Age of death: adolescent,late childhood,young Adult

Classifications:



External Ids:

Orphanet54 ORPHA309263
UMLS via Orphanet69 C0751276
ICD10 via Orphanet31 E75.2

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 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 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 & Phenotypes for Metachromatic Leukodystrophy, Juvenile Form

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MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Juvenile Form according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ARSA, PSAP

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:

36
Eye

Publications for Metachromatic Leukodystrophy, Juvenile Form

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Variations for Metachromatic Leukodystrophy, Juvenile Form

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Clinvar genetic disease variations for Metachromatic Leukodystrophy, Juvenile Form:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ARSANM_ 000487.5(ARSA): c.465+1G> ASNVPathogenicrs80338815GRCh37Chr 22, 51065593: 51065593
2ARSANM_ 000487.5(ARSA): c.1283C> T (p.Pro428Leu)SNVPathogenicrs28940893GRCh37Chr 22, 51063820: 51063820
3ARSANM_ 000487.5(ARSA): c.542T> G (p.Ile181Ser)SNVPathogenicrs74315457GRCh37Chr 22, 51065404: 51065404
4ARSANM_ 000487.5(ARSA): c.1210+1G> ASNVPathogenicrs80338820GRCh37Chr 22, 51064006: 51064006
5ARSANM_ 000487.5(ARSA): c.1279C> A (p.Pro427Thr)SNVPathogenicrs74315485GRCh37Chr 22, 51063824: 51063824

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:00432029.8ARSA, PSAP
2lysosomeGO:00057649.1ARSA, PSAP

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

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid metabolic processGO:00066879.8ARSA, PSAP
2neutrophil degranulationGO:00433129.1ARSA, PSAP

Sources for Metachromatic Leukodystrophy, Juvenile Form

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet