MCID: GCH010

Gaucher Disease, Atypical, Due to Saposin C Deficiency malady

Genetic diseases (common) category
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Summaries for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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MalaCards: Gaucher Disease, Atypical, Due to Saposin C Deficiency An important gene associated with Gaucher Disease, Atypical, Due to Saposin C Deficiency is PSAP (prosaposin).

Aliases & Classifications for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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20GeneTests, 22GTR
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Classifications:

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Global: Genetic diseases (common)


Aliases & Descriptions:

gaucher disease, atypical, due to saposin c deficiency 20 22


Related Diseases for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Symptoms for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Drugs & Therapeutics for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Gaucher Disease, Atypical, Due to Saposin C Deficiency

Search NIH Clinical Center for Gaucher Disease, Atypical, Due to Saposin C Deficiency

Genetic Tests for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Gaucher Disease, Atypical, Due to Saposin C Deficiency:

id Genetic test Affiliating Genes
1 Gaucher Disease, Atypical, Due to Saposin C Deficiency20 22 PSAP

Anatomical Context for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Animal Models for Gaucher Disease, Atypical, Due to Saposin C Deficiency or affiliated genes

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Publications for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Variations for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Gaucher Disease, Atypical, Due to Saposin C Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1PSAPNM_001042465.1(PSAP): c.1154G> T (p.Cys385Phe)single nucleotide variantPathogenicrs121918105GRCh37Chr 10, 73579518: 73579518
2PSAPNM_001042465.1(PSAP): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicrs121918106GRCh37Chr 10, 73610978: 73610978
3PSAPNM_001042465.1(PSAP): c.1153T> G (p.Cys385Gly)single nucleotide variantPathogenicrs121918108GRCh37Chr 10, 73579519: 73579519
4PSAPNM_001042465.1(PSAP): c.1297C> T (p.Gln433Ter)single nucleotide variantPathogenicrs121918109GRCh37Chr 10, 73579284: 73579284
5PSAPNM_001042465.1(PSAP): c.1055T> C (p.Leu352Pro)single nucleotide variantPathogenicrs121918110GRCh37Chr 10, 73579617: 73579617

Expression for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Pathways for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Compounds for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

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GO Terms for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Products for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease, Atypical, Due to Saposin C 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