MCID: MTC019

Metachromatic Leukodystrophy Due to Saposin B Deficiency malady

Summaries for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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MalaCards: Metachromatic Leukodystrophy Due to Saposin B Deficiency, also known as metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency, is related to metachromatic leukodystrophy. An important gene associated with Metachromatic Leukodystrophy Due to Saposin B Deficiency is PSAP (prosaposin).

Aliases & Classifications for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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42NIH Rare Diseases, 20GeneTests, 60UMLS
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Aliases & Descriptions:

metachromatic leukodystrophy due to saposin b deficiency 42 20
metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency 42
sphingolipid activator protein 1 deficiency 60


Related Diseases for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Metachromatic Leukodystrophy Due to Saposin B Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1metachromatic leukodystrophy10.5

Clinical Features for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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Drugs & Therapeutics for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Metachromatic Leukodystrophy Due to Saposin B Deficiency

Drug clinical trials:

Search ClinicalTrials for Metachromatic Leukodystrophy Due to Saposin B Deficiency

Search NIH Clinical Center for Metachromatic Leukodystrophy Due to Saposin B Deficiency

Search CenterWatch for Metachromatic Leukodystrophy Due to Saposin B Deficiency

Genetic Tests for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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20GeneTests
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Genetic tests related to Metachromatic Leukodystrophy Due to Saposin B Deficiency:

id Genetic test Affiliating Genes
1 Metachromatic Leukodystrophy Due to Saposin B Deficiency20 PSAP

Anatomical Context for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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Animal Models for Metachromatic Leukodystrophy Due to Saposin B Deficiency or affiliated genes

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Publications for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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Genetic Variations for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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Expression for genes affiliated with Metachromatic Leukodystrophy Due to Saposin B Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Metachromatic Leukodystrophy Due to Saposin B Deficiency

Search GEO for disease gene expression data for Metachromatic Leukodystrophy Due to Saposin B Deficiency.

Pathways for genes affiliated with Metachromatic Leukodystrophy Due to Saposin B Deficiency

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Compounds for genes affiliated with Metachromatic Leukodystrophy Due to Saposin B Deficiency

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GO Terms for genes affiliated with Metachromatic Leukodystrophy Due to Saposin B Deficiency

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Products for genes affiliated with Metachromatic Leukodystrophy Due to Saposin B Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet