MCID: MTC075
MIFTS: 24

Metachromatic Leukodystrophy, Late Infantile Form malady

Neuronal diseases, Eye diseases, Rare diseases categories

Summaries for Metachromatic Leukodystrophy, Late Infantile Form

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34MalaCards
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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 ARSA (arylsulfatase A), 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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50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

metachromatic leukodystrophy, late infantile form 50
arylsulfatase a deficiency, late infantile form 50
leukodystrophy, metachromatic 63
mld, late infantile form 50


External Ids:

SNOMED-CT via Orphanet60 47683004
ICD10 via Orphanet27 E75.2

Related Diseases for Metachromatic Leukodystrophy, Late Infantile Form

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18GeneCards, 19GeneDecks
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Diseases related to Metachromatic Leukodystrophy, Late Infantile Form via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy30.7PSAP
2metachromatic leukodystrophy30.6PSAP, ARSA
3gangliosidosis gm110.0ARSA, PSAP
4sphingolipidosis10.0ARSA, PSAP
5tay-sachs disease10.0PSAP, ARSA
6krabbe disease10.0ARSA, PSAP
7fabry disease10.0PSAP, ARSA
8lysosomal storage disease10.0PSAP, ARSA
9gaucher's disease9.9ARSA, PSAP

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Metachromatic Leukodystrophy, Late Infantile Form

Drug clinical trials:

Search ClinicalTrials for Metachromatic Leukodystrophy, Late Infantile Form

Search NIH Clinical Center for Metachromatic Leukodystrophy, Late Infantile Form

Search CenterWatch 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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34MalaCards
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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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38MGI
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MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Late Infantile Form:

38
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Metachromatic Leukodystrophy, Late Infantile Form:

1 (show all 23)
id Gene Name Type Significance SNP ID Assembly Location
1ARSANM_000487.5(ARSA): c.1178C> G (p.Thr393Ser)single nucleotide variantBenign, Pathogenicrs743616GRCh37Chr 22, 51064039: 51064039
2ARSANM_000487.5(ARSA): c.1407_1417delCGCAGCTGTGA (p.Ala470Leufs)deletionPathogenicrs80338823GRCh37Chr 22, 51063686: 51063696
3ARSANM_000487.5(ARSA): c.257G> A (p.Arg86Gln)single nucleotide variantPathogenicrs74315458GRCh37Chr 22, 51065802: 51065802
4ARSANM_000487.5(ARSA): c.769G> C (p.Asp257His)single nucleotide variantPathogenicrs80338819GRCh37Chr 22, 51065104: 51065104
5ARSANM_000487.5(ARSA): c.*96A> Gsingle nucleotide variantPathogenicrs6151429GRCh37Chr 22, 51063477: 51063477
6ARSANM_000487.5(ARSA): c.1055A> G (p.Asn352Ser)single nucleotide variantBenign, Pathogenicrs2071421GRCh37Chr 22, 51064416: 51064416
7ARSANM_000487.5(ARSA): c.465+1G> Asingle nucleotide variantPathogenicrs80338815GRCh37Chr 22, 51065593: 51065593
8ARSANM_000487.5(ARSA): c.1283C> T (p.Pro428Leu)single nucleotide variantPathogenicrs28940893GRCh37Chr 22, 51063820: 51063820
9ARSANM_000487.5(ARSA): c.302G> A (p.Gly101Asp)single nucleotide variantPathogenicrs74315455GRCh37Chr 22, 51065757: 51065757
10ARSANM_000487.5(ARSA): c.293C> T (p.Ser98Phe)single nucleotide variantPathogenicrs74315456GRCh37Chr 22, 51065766: 51065766
11ARSANM_000487.5(ARSA): c.542T> G (p.Ile181Ser)single nucleotide variantPathogenicrs74315457GRCh37Chr 22, 51065404: 51065404
12ARSANM_000487.5(ARSA): c.1210+1G> Asingle nucleotide variantPathogenicrs80338820GRCh37Chr 22, 51064006: 51064006
13ARSANM_000487.5(ARSA): c.370G> A (p.Gly124Ser)single nucleotide variantPathogenic, Uncertain significancers74315461GRCh37Chr 22, 51065689: 51065689
14ARSANM_000487.5(ARSA): c.467G> A (p.Gly156Asp)single nucleotide variantPathogenicrs74315463GRCh37Chr 22, 51065479: 51065479
15ARSANM_000487.5(ARSA): c.506C> G (p.Pro169Arg)single nucleotide variantPathogenicrs74315465GRCh37Chr 22, 51065440: 51065440
16ARSANM_000487.5(ARSA): c.641C> T (p.Ala214Val)single nucleotide variantPathogenicrs74315467GRCh37Chr 22, 51065305: 51065305
17ARSANM_000487.5(ARSA): c.677C> T (p.Ala226Val)single nucleotide variantPathogenicrs74315468GRCh37Chr 22, 51065269: 51065269
18ARSANM_000487.5(ARSA): c.697C> A (p.Pro233Thr)single nucleotide variantPathogenicrs74315469GRCh37Chr 22, 51065176: 51065176
19ARSANM_000487.5(ARSA): c.736C> T (p.Arg246Cys)single nucleotide variantPathogenicrs74315470GRCh37Chr 22, 51065137: 51065137
20ARSANM_000487.5(ARSA): c.739G> A (p.Gly247Arg)single nucleotide variantPathogenicrs74315471GRCh37Chr 22, 51065134: 51065134
21ARSANM_000487.5(ARSA): c.868C> T (p.Arg290Cys)single nucleotide variantPathogenicrs74315473GRCh37Chr 22, 51064693: 51064693
22ARSANM_000487.5(ARSA): c.1174C> T (p.Arg392Trp)single nucleotide variantPathogenicrs74315480GRCh37Chr 22, 51064043: 51064043
23ARSANM_000487.5(ARSA): c.1232C> T (p.Thr411Ile)single nucleotide variantPathogenicrs74315481GRCh37Chr 22, 51063871: 51063871

Expression for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

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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51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database
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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
Show member pathways
9.1ARSA, PSAP

Compounds for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

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46Novoseek, 25HMDB
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Compounds related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1galactosylceramide469.4ARSA, PSAP
2sulfatide469.4ARSA, PSAP
3glycosphingolipid469.4ARSA, PSAP
43-O-Sulfogalactosylceramide (d18:1/24:0)259.4PSAP, ARSA
5ganglioside469.3ARSA, PSAP
6mannose 6-phosphate46 2510.3ARSA, PSAP
7sulfate46 2510.3PSAP, ARSA
8ceramide469.2ARSA, PSAP
9valine469.2ARSA, PSAP
10hydrogen46 2510.1PSAP, ARSA
11lipid469.1ARSA, PSAP
12oligonucleotide469.0ARSA, PSAP
13cysteine468.8ARSA, PSAP

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

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17Gene Ontology
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Cellular components related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.1ARSA, PSAP
2lysosomal lumenGO:0432028.8ARSA, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet