MCID: MTC075
MIFTS: 17

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

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Sources:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Metachromatic Leukodystrophy, Late Infantile Form:

Name: Metachromatic Leukodystrophy, Late Infantile Form 53
Arylsulfatase a Deficiency, Late Infantile Form 53
 
Mld, Late Infantile Form 53

Characteristics:

Orphanet epidemiological data:

53
metachromatic leukodystrophy, late infantile form:
Age of onset: Infancy; Age of death: early childhood

Classifications:



External Ids:

Orphanet53 ORPHA309256
ICD10 via Orphanet30 E75.2

Summaries for Metachromatic Leukodystrophy, Late Infantile Form

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MalaCards based summary: Metachromatic Leukodystrophy, Late Infantile Form, also known as arylsulfatase a deficiency, late infantile form, is related to metachromatic leukodystrophy and leukodystrophy. 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

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Diseases in the Metachromatic Leukodystrophy family:

Metachromatic Leukodystrophy, Adult Form metachromatic leukodystrophy, late infantile form
Metachromatic Leukodystrophy, Juvenile Form

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1metachromatic leukodystrophy10.0
2leukodystrophy10.0
3tay-sachs disease, b variant, infantile form9.7ARSA, PSAP
4tay-sachs disease, b1 variant9.7ARSA, PSAP
5neuronal intestinal dysplasia9.7ARSA, PSAP
6hypothalamic disease9.7ARSA, PSAP
7graves disease 19.6ARSA, PSAP
8tyrosinemia, type i9.6ARSA, PSAP
9mitochondrial dna depletion syndrome 19.5ARSA, PSAP
10dientamoebiasis9.5ARSA, PSAP
11reproductive organ cancer9.3ARSA, 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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center 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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MalaCards organs/tissues related to Metachromatic Leukodystrophy, Late Infantile Form:

35
Eye

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

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

40
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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Expression for genes affiliated with Metachromatic Leukodystrophy, Late Infantile Form

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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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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

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.1ARSA, PSAP

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

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid metabolic processGO:00066879.1ARSA, PSAP

Sources for Metachromatic Leukodystrophy, Late Infantile Form

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet