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: 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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44NIH Rare Diseases, 21GeneTests, 63UMLS
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Classifications:

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Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

metachromatic leukodystrophy due to saposin b deficiency 44 21
metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency 44
sphingolipid activator protein 1 deficiency 63


Related Diseases for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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21GeneTests
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Metachromatic Leukodystrophy Due to Saposin B Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1PSAPNM_001042465.1(PSAP): c.650C> T (p.Thr217Ile)single nucleotide variantPathogenicrs121918103GRCh37Chr 10, 73587841: 73587841
2PSAPNM_001042465.1(PSAP): c.722G> C (p.Cys241Ser)single nucleotide variantPathogenicrs121918104GRCh37Chr 10, 73585649: 73585649
3PSAPNM_001042465.1(PSAP): c.643A> C (p.Asn215His)single nucleotide variantPathogenicrs121918107GRCh37Chr 10, 73587848: 73587848

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

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2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet