MCID: CMB020

Combined Saposin Deficiency malady

Genetic diseases (common) category

Summaries for Combined Saposin Deficiency

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Combined Saposin Deficiency An important gene associated with Combined Saposin Deficiency is PSAP (prosaposin).

Aliases & Classifications for Combined Saposin Deficiency

About this section
Sources:
21GeneTests, 23GTR, 63UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

combined saposin deficiency 21 23 63


Related Diseases for Combined Saposin Deficiency

About this section

Symptoms for Combined Saposin Deficiency

About this section

Drugs & Therapeutics for Combined Saposin Deficiency

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

Approved drugs:

Search CenterWatch for Combined Saposin Deficiency

Drug clinical trials:

Search ClinicalTrials for Combined Saposin Deficiency

Search NIH Clinical Center for Combined Saposin Deficiency

Search CenterWatch for Combined Saposin Deficiency

Genetic Tests for Combined Saposin Deficiency

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

Genetic tests related to Combined Saposin Deficiency:

id Genetic test Affiliating Genes
1 Combined Saposin Deficiency21 23 PSAP

Anatomical Context for Combined Saposin Deficiency

About this section

Animal Models for Combined Saposin Deficiency or affiliated genes

About this section

Publications for Combined Saposin Deficiency

About this section

Variations for Combined Saposin Deficiency

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

Clinvar genetic disease variations for Combined Saposin Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1PSAPNM_001042465.1(PSAP): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicrs121918106GRCh37Chr 10, 73610978: 73610978

Expression for genes affiliated with Combined Saposin Deficiency

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Combined Saposin Deficiency

Search GEO for disease gene expression data for Combined Saposin Deficiency.

Pathways for genes affiliated with Combined Saposin Deficiency

About this section

Compounds for genes affiliated with Combined Saposin Deficiency

About this section

GO Terms for genes affiliated with Combined Saposin Deficiency

About this section

Products for genes affiliated with Combined Saposin Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Combined Saposin 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