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:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Metachromatic Leukodystrophy, Late Infantile Form:

Name: Metachromatic Leukodystrophy, Late Infantile Form 54
Arylsulfatase a Deficiency, Late Infantile Form 54
 
Mld, Late Infantile Form 54

Characteristics:

Orphanet epidemiological data:

54
metachromatic leukodystrophy, late infantile form:
Age of onset: Infancy; Age of death: early childhood

Classifications:



External Ids:

Orphanet54 ORPHA309256
ICD10 via Orphanet31 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 & Phenotypes for Metachromatic Leukodystrophy, Late Infantile Form

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MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ARSA, PSAP

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:

36
Eye

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet