MCID: MTC075
MIFTS: 17

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:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Metachromatic Leukodystrophy, Late Infantile Form:

Name: Metachromatic Leukodystrophy, Late Infantile Form 52
Arylsulfatase a Deficiency, Late Infantile Form 52
 
Mld, Late Infantile Form 52

Characteristics:

Orphanet epidemiological data:

52
metachromatic leukodystrophy, late infantile form:
Age of onset: Infancy; Age of death: early childhood

Classifications:



External Ids:

Orphanet52 ORPHA309256
ICD10 via Orphanet29 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 metachromatic leukodystrophy, late infantile form and tay-sachs disease, b variant, infantile form. An important gene associated with Metachromatic Leukodystrophy, Late Infantile 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, 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 for Metachromatic Leukodystrophy, Late Infantile Form

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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:

34
Eye

Animal Models for Metachromatic Leukodystrophy, Late Infantile Form or affiliated genes

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MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Late Infantile Form:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ARSA, PSAP

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:00432029.1ARSA, PSAP

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

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid metabolic processGO:00066879.1ARSA, PSAP

Sources for Metachromatic Leukodystrophy, Late Infantile Form

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet