MCID: GCH010

Gaucher Disease, Atypical, Due to Saposin C Deficiency malady

Genetic diseases (common) category

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

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Classifications:

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


Aliases & Descriptions:

gaucher disease, atypical, due to saposin c deficiency 21 23


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

About this section

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

About this section

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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

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

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

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

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

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 Deficiency21 23 PSAP

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

About this section

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

About this section

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

About this section

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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

Search GEO for disease gene expression data for Gaucher Disease, Atypical, Due to Saposin C Deficiency.

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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

About this section
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