MCID: MTC075
MIFTS: 24

Metachromatic Leukodystrophy, Late Infantile Form malady

Neuronal diseases, Eye diseases, Rare diseases categories
Download this MalaCard

Summaries for Metachromatic Leukodystrophy, Late Infantile Form

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
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

About this section
Sources:
49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

metachromatic leukodystrophy, late infantile form 49
arylsulfatase a deficiency, late infantile form 49
leukodystrophy, metachromatic 62
mld, late infantile form 49


External Ids:

SNOMED-CT via Orphanet59 47683004
ICD10 via Orphanet26 E75.2

Related Diseases for Metachromatic Leukodystrophy, Late Infantile Form

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Metachromatic Leukodystrophy, Late Infantile Form

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Metachromatic Leukodystrophy, Late Infantile Form

Search NIH Clinical Center for Metachromatic Leukodystrophy, Late Infantile Form

Genetic Tests for Metachromatic Leukodystrophy, Late Infantile Form

About this section

Anatomical Context for Metachromatic Leukodystrophy, Late Infantile Form

About this section
Sources:
33MalaCards
See all sources

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

33
Eye

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

About this section
Sources:
37MGI
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ARSA, PSAP

Publications for Metachromatic Leukodystrophy, Late Infantile Form

About this section

Variations for Metachromatic Leukodystrophy, Late Infantile Form

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 30KEGG, 55Reactome, 38NCBI BioSystems Database
See all sources

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

About this section
Sources:
45Novoseek, 24HMDB
See all sources

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

(show all 13)
idCompoundScoreTop Affiliating Genes
1galactosylceramide459.4ARSA, PSAP
2sulfatide459.4ARSA, PSAP
3glycosphingolipid459.4ARSA, PSAP
43-O-Sulfogalactosylceramide (d18:1/24:0)249.4PSAP, ARSA
5ganglioside459.3ARSA, PSAP
6mannose 6-phosphate45 2410.3ARSA, PSAP
7sulfate45 2410.3PSAP, ARSA
8ceramide459.2ARSA, PSAP
9valine459.2ARSA, PSAP
10hydrogen45 2410.1PSAP, ARSA
11lipid459.1ARSA, PSAP
12oligonucleotide459.0ARSA, PSAP
13cysteine458.8ARSA, PSAP

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metachromatic Leukodystrophy, Late Infantile Form

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet