MCID: MTC075
MIFTS: 18

Metachromatic Leukodystrophy, Late Infantile Form malady

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

Aliases & Classifications for Metachromatic Leukodystrophy, Late Infantile Form

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Metachromatic Leukodystrophy, Late Infantile Form:

Name: Metachromatic Leukodystrophy, Late Infantile Form 54
Arylsulfatase a Deficiency, Late Infantile Form 54
 
Mld, Late Infantile Form 54

Characteristics:

Orphanet epidemiological data:

54
metachromatic leukodystrophy, late infantile form:
Age of onset: Infancy; Age of death: early childhood

Classifications:



External Ids:

Orphanet54 ORPHA309256
ICD10 via Orphanet31 E75.2

Summaries for Metachromatic Leukodystrophy, Late Infantile Form

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MalaCards based summary: Metachromatic Leukodystrophy, Late Infantile Form, also known as arylsulfatase a deficiency, late infantile 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, Late Infantile 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, Late Infantile Form

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Graphical network of diseases related to Metachromatic Leukodystrophy, Late Infantile Form:



Diseases related to metachromatic leukodystrophy, late infantile form

Symptoms & Phenotypes for Metachromatic Leukodystrophy, Late Infantile Form

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

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

Drugs & Therapeutics for Metachromatic Leukodystrophy, Late Infantile Form

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Metachromatic Leukodystrophy, Late Infantile Form

Genetic Tests for Metachromatic Leukodystrophy, Late Infantile Form

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Anatomical Context for Metachromatic Leukodystrophy, Late Infantile Form

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MalaCards organs/tissues related to Metachromatic Leukodystrophy, Late Infantile Form:

36
Eye

Publications for Metachromatic Leukodystrophy, Late Infantile Form

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Variations for Metachromatic Leukodystrophy, Late Infantile Form

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Expression for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

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

Pathways for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

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Pathways related to Metachromatic Leukodystrophy, Late Infantile 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, Late Infantile Form

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Cellular components related to Metachromatic Leukodystrophy, Late Infantile 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, Late Infantile 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, Late Infantile 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