MCID: MTC075
MIFTS: 16

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

About this section
Sources:
51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Metachromatic Leukodystrophy, Late Infantile Form:

Name: Metachromatic Leukodystrophy, Late Infantile Form 51
Arylsulfatase a Deficiency, Late Infantile Form 51
 
Mld, Late Infantile Form 51

Classifications:



External Ids:

Orphanet51 309256
ICD10 via Orphanet28 E75.2

Summaries for Metachromatic Leukodystrophy, Late Infantile Form

About this section
MalaCards based summary: Metachromatic Leukodystrophy, Late Infantile Form, also known as arylsulfatase a deficiency, late infantile form, is related to alpha-mannosidosis, adult form and free sialic acid storage disease, 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

About this section

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

Interventional clinical trials:

Search ClinicalTrials, 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

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

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

About this section

Variations for Metachromatic Leukodystrophy, Late Infantile Form

About this section

Expression for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

About this section
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

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

About this section

Sources for Metachromatic Leukodystrophy, Late Infantile Form

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet