MCID: MTC075
MIFTS: 25

Metachromatic Leukodystrophy, Late Infantile Form malady

Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Metachromatic Leukodystrophy, Late Infantile Form

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MalaCards: Metachromatic Leukodystrophy, Late Infantile Form, also known as arylsulfatase a deficiency, late infantile form, is related to leukodystrophy and metachromatic leukodystrophy. An important gene associated with Metachromatic Leukodystrophy, Late Infantile Form is PSAP (prosaposin), and among its related pathways are Lysosome and Sphingolipid metabolism. The compounds galactosylceramide and sulfatide have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotype hearing/vestibular/ear.

Aliases & Classifications for Metachromatic Leukodystrophy, Late Infantile Form

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48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases


Aliases & Descriptions:

metachromatic leukodystrophy, late infantile form 48
arylsulfatase a deficiency, late infantile form 48
leukodystrophy, metachromatic 60
mld, late infantile form 48


External Ids:

SNOMED-CT via Orphanet57 47683004
ICD10 via Orphanet26 E75.2

Related Diseases for Metachromatic Leukodystrophy, Late Infantile Form

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Metachromatic Leukodystrophy, Late Infantile Form:



Diseases related to metachromatic leukodystrophy, late infantile form

Clinical Features for Metachromatic Leukodystrophy, Late Infantile Form

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Drugs & Therapeutics for Metachromatic Leukodystrophy, Late Infantile Form

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Metachromatic Leukodystrophy, Late Infantile Form

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Genetic Tests for Metachromatic Leukodystrophy, Late Infantile Form

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Anatomical Context for Metachromatic Leukodystrophy, Late Infantile Form

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32MalaCards
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MalaCards organs/tissues related to Metachromatic Leukodystrophy, Late Infantile Form:

32
Eye

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

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36MGI
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MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Late Infantile Form:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ARSA, PSAP

Publications for Metachromatic Leukodystrophy, Late Infantile Form

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Genetic 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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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

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Pathways for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

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29KEGG, 53Reactome
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Pathways related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ARSA, PSAP
2
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9.1ARSA, PSAP

Compounds for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

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44Novoseek, 24HMDB
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Compounds related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1galactosylceramide449.4ARSA, PSAP
2sulfatide449.3ARSA, PSAP
3glycosphingolipid449.3PSAP, ARSA
4ganglioside449.3ARSA, PSAP
5mannose 6-phosphate44 2410.2ARSA, PSAP
6sulfate44 2410.2PSAP, ARSA
7ceramide449.1ARSA, PSAP
8oligonucleotide449.1ARSA, PSAP
9valine449.0ARSA, PSAP
10hydrogen44 249.8ARSA, PSAP

GO Terms for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

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16Gene Ontology
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Cellular components related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.1ARSA, PSAP

Biological processes related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sphingolipid metabolic processGO:0066659.1ARSA, PSAP
2glycosphingolipid metabolic processGO:0066878.8ARSA, PSAP

Products for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metachromatic Leukodystrophy, Late Infantile Form

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet