MCID: GCH014
MIFTS: 11

Gaucher Disease, Atypical malady

Genetic diseases, Rare diseases categories

Summaries for Gaucher Disease, Atypical

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Gaucher Disease, Atypical, also known as atypical gaucher disease due to saposin c deficiency, is related to gaucher disease, atypical, due to saposin c deficiency. An important gene associated with Gaucher Disease, Atypical is PSAP (prosaposin).

Description from OMIM:48 610539

Aliases & Classifications for Gaucher Disease, Atypical

About this section
Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

gaucher disease, atypical 48
atypical gaucher disease due to saposin c deficiency 50


External Ids:

OMIM48 610539
ICD10 via Orphanet27 E75.2

Related Diseases for Gaucher Disease, Atypical

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases related to Gaucher Disease, Atypical via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease, atypical, due to saposin c deficiency10.3

Symptoms for Gaucher Disease, Atypical

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

610539

Drugs & Therapeutics for Gaucher Disease, Atypical

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

Approved drugs:

Search CenterWatch for Gaucher Disease, Atypical

Drug clinical trials:

Search ClinicalTrials for Gaucher Disease, Atypical

Search NIH Clinical Center for Gaucher Disease, Atypical

Search CenterWatch for Gaucher Disease, Atypical

Genetic Tests for Gaucher Disease, Atypical

About this section

Anatomical Context for Gaucher Disease, Atypical

About this section

Animal Models for Gaucher Disease, Atypical or affiliated genes

About this section

Publications for Gaucher Disease, Atypical

About this section

Variations for Gaucher Disease, Atypical

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Atypical:

65
id Symbol AA change Variation ID SNP ID
1PSAPp.Cys388PheVAR_006945
2PSAPp.Leu349ProVAR_042441

Clinvar genetic disease variations for Gaucher Disease, Atypical:

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

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

Search GEO for disease gene expression data for Gaucher Disease, Atypical.

Pathways for genes affiliated with Gaucher Disease, Atypical

About this section

Compounds for genes affiliated with Gaucher Disease, Atypical

About this section

GO Terms for genes affiliated with Gaucher Disease, Atypical

About this section

Products for genes affiliated with Gaucher Disease, Atypical

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease, Atypical

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