MCID: MTC067

Metachromatic Leukodystrophy Due to Sap-B Deficiency malady

Summaries for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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46OMIM, 32MalaCards
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MalaCards: Metachromatic Leukodystrophy Due to Sap-B Deficiency An important gene associated with Metachromatic Leukodystrophy Due to Sap-B Deficiency is PSAP (prosaposin).

Description from OMIM:46 249900

Aliases & Classifications for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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46OMIM
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Aliases & Descriptions:

metachromatic leukodystrophy due to sap-b deficiency 46


Related Diseases for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Clinical Features for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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46OMIM
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Clinical features from OMIM:

249900

Clinical synopsis from OMIM:

249900

Drugs & Therapeutics for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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

Search CenterWatch for Metachromatic Leukodystrophy Due to Sap-B Deficiency

Drug clinical trials:

Search ClinicalTrials for Metachromatic Leukodystrophy Due to Sap-B Deficiency

Search NIH Clinical Center for Metachromatic Leukodystrophy Due to Sap-B Deficiency

Search CenterWatch for Metachromatic Leukodystrophy Due to Sap-B Deficiency

Genetic Tests for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Anatomical Context for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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

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Publications for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Genetic Variations for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Metachromatic Leukodystrophy Due to Sap-B Deficiency:

62
id Symbol AA change Variation ID SNP ID
1PSAPp.Thr217IleVAR_006943
2PSAPp.Cys241SerVAR_006944rs1130793
3PSAPp.Asn215HisVAR_031823
4PSAPp.Asn215LysVAR_031899

Expression for genes affiliated with Metachromatic Leukodystrophy Due to Sap-B Deficiency

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

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

Pathways for genes affiliated with Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Compounds for genes affiliated with Metachromatic Leukodystrophy Due to Sap-B Deficiency

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

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Products for genes affiliated with Metachromatic Leukodystrophy Due to Sap-B Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metachromatic Leukodystrophy Due to Sap-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