MCID: MTC074
MIFTS: 22

Metachromatic Leukodystrophy, Adult Form malady

Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases categories

Aliases & Classifications for Metachromatic Leukodystrophy, Adult Form

About this section
Sources:
47Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Metachromatic Leukodystrophy, Adult Form, Aliases & Descriptions:

Name: Metachromatic Leukodystrophy, Adult Form 47
Arylsulfatase a Deficiency, Adult Form 47
 
Mld, Adult Form 47


Classifications:



External Ids:

Orphanet47 309271
ICD10 via Orphanet26 E75.2
UMLS via Orphanet61 C0751279

Summaries for Metachromatic Leukodystrophy, Adult Form

About this section


MalaCards based summary: Metachromatic Leukodystrophy, Adult Form, also known as arylsulfatase a deficiency, adult form, is related to leukodystrophy and metachromatic leukodystrophy. An important gene associated with Metachromatic Leukodystrophy, Adult 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.

Related Diseases for Metachromatic Leukodystrophy, Adult Form

About this section

Diseases in the Metachromatic Leukodystrophy family:

metachromatic leukodystrophy, adult form Metachromatic Leukodystrophy, Late Infantile Form
Metachromatic Leukodystrophy, Juvenile Form

Diseases related to Metachromatic Leukodystrophy, Adult Form via text searches within MalaCards or GeneCards Suite gene sharing:

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

Graphical network of diseases related to Metachromatic Leukodystrophy, Adult Form:



Diseases related to metachromatic leukodystrophy, adult form

Symptoms for Metachromatic Leukodystrophy, Adult Form

About this section

Drugs & Therapeutics for Metachromatic Leukodystrophy, Adult Form

About this section

Drug clinical trials:

Search ClinicalTrials for Metachromatic Leukodystrophy, Adult Form

Search NIH Clinical Center for Metachromatic Leukodystrophy, Adult Form

Genetic Tests for Metachromatic Leukodystrophy, Adult Form

About this section

Anatomical Context for Metachromatic Leukodystrophy, Adult Form

About this section

MalaCards organs/tissues related to Metachromatic Leukodystrophy, Adult Form:

31
Eye

Animal Models for Metachromatic Leukodystrophy, Adult Form or affiliated genes

About this section

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Adult Form:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ARSA, PSAP

Publications for Metachromatic Leukodystrophy, Adult Form

About this section

Variations for Metachromatic Leukodystrophy, Adult Form

About this section

Expression for genes affiliated with Metachromatic Leukodystrophy, Adult Form

About this section
Search GEO for disease gene expression data for Metachromatic Leukodystrophy, Adult Form.

Pathways for genes affiliated with Metachromatic Leukodystrophy, Adult Form

About this section

Pathways related to Metachromatic Leukodystrophy, Adult Form according to GeneCards Suite gene sharing:

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, Adult Form

About this section
Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Metachromatic Leukodystrophy, Adult Form according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1galactosylceramide439.4ARSA, PSAP
2sulfatide439.4ARSA, PSAP
3glycosphingolipid439.4ARSA, PSAP
43-O-Sulfogalactosylceramide (d18:1/24:0)249.4PSAP, ARSA
5ganglioside439.3ARSA, PSAP
6mannose 6-phosphate43 2410.3ARSA, PSAP
7sulfate43 2410.3PSAP, ARSA
8ceramide439.2ARSA, PSAP
9valine439.2ARSA, PSAP
10hydrogen43 2410.1PSAP, ARSA
11lipid439.1ARSA, PSAP
12oligonucleotide439.0ARSA, PSAP
13cysteine438.8ARSA, PSAP

GO Terms for genes affiliated with Metachromatic Leukodystrophy, Adult Form

About this section

Cellular components related to Metachromatic Leukodystrophy, Adult Form according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056159.1ARSA, PSAP
2lysosomal lumenGO:00432028.8ARSA, PSAP

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

idNameGO IDScoreTop Affiliating Genes
1sphingolipid metabolic processGO:00066659.1ARSA, PSAP
2glycosphingolipid metabolic processGO:00066878.8ARSA, PSAP

Products for genes affiliated with Metachromatic Leukodystrophy, Adult Form

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Metachromatic Leukodystrophy, Adult Form

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet