MCID: MTC019

Metachromatic Leukodystrophy Due to Saposin B Deficiency malady

Genetic diseases, Rare diseases categories

Summaries for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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MalaCards based summary: 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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Metachromatic Leukodystrophy Due to Saposin B Deficiency, Aliases & Descriptions:

Name: Metachromatic Leukodystrophy Due to Saposin B Deficiency 42 21 61
 
Metachromatic Leukodystrophy Due to Cerebroside Sulfatase Activator Deficiency 42 61


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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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 leukodystrophy10.6

Symptoms 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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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

Genetic Tests for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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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 Deficiency21 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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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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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
  • Proteins
  • Kits and Assays

Sources for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet