MCID: MTC067

Metachromatic Leukodystrophy Due to Sap-B Deficiency malady

Genetic diseases (common) category
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Summaries for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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47OMIM, 33MalaCards
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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:47 249900

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

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47OMIM
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Classifications:

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Global: Genetic diseases (common)


Aliases & Descriptions:

metachromatic leukodystrophy due to sap-b deficiency 47


Related Diseases for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Symptoms for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

249900

Clinical features from OMIM:

249900

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

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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

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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Variations for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Metachromatic Leukodystrophy Due to Sap-B Deficiency:

64
id Symbol AA change Variation ID SNP ID
1PSAPp.Thr217IleVAR_006943
2PSAPp.Cys241SerVAR_006944rs1130793
3PSAPp.Asn215HisVAR_031823
4PSAPp.Asn215LysVAR_031899

Clinvar genetic disease variations for Metachromatic Leukodystrophy Due to Sap-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
2PSAPPSAP, IVS4AS, C-Asingle nucleotide variantPathogenic
3PSAPNM_001042465.1(PSAP): c.722G> C (p.Cys241Ser)single nucleotide variantPathogenicrs121918104GRCh37Chr 10, 73585649: 73585649
4PSAPPSAP, IVS5AS, G-T, -1single nucleotide variantPathogenic
5PSAPNM_001042465.1(PSAP): c.643A> C (p.Asn215His)single nucleotide variantPathogenicrs121918107GRCh37Chr 10, 73587848: 73587848
6PSAPPSAP, IVS5AS, A-G, -2single nucleotide variantPathogenic
7PSAPPSAP, 2-BP DEL, 828GAdeletionPathogenic

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

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2BioGPS, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet