MCID: GCH014
MIFTS: 12

Gaucher Disease, Atypical malady

Metabolic category

Summaries for Gaucher Disease, Atypical

Sources:
47OMIM, 33MalaCards
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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 and gaucher's disease. An important gene associated with Gaucher Disease, Atypical is PSAP (prosaposin).

Description from OMIM:47 610539

Aliases & Classifications for Gaucher Disease, Atypical

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Aliases & Descriptions:

gaucher disease, atypical 47
atypical gaucher disease due to saposin c deficiency 49


External Ids:

OMIM47 610539
ICD10 via Orphanet26 E75.2

Related Diseases for Gaucher Disease, Atypical

Sources:
17GeneCards, 18GeneDecks
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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 deficiency10.4
2gaucher's disease10.1

Clinical Features for Gaucher Disease, Atypical

Sources:
47OMIM
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Clinical features from OMIM:

610539

Drugs & Therapeutics for Gaucher Disease, Atypical

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Gaucher Disease, Atypical

Drug clinical trials:

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Search NIH Clinical Center for Gaucher Disease, Atypical

Search CenterWatch for Gaucher Disease, Atypical

Genetic Tests for Gaucher Disease, Atypical

Anatomical Context for Gaucher Disease, Atypical

Animal Models for Gaucher Disease, Atypical or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Gaucher Disease, Atypical

Sources:
51PubMed
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Articles related to Gaucher Disease, Atypical:

idTitleAuthorsYear
1
Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review. (20629148)
2010
2
Atypical course of neuropathic Gaucher's disease: follow up from early infancy until adulthood. (11118268)
2001
3
Biochemical characterization of peripheral blood in an outpatient with atypical Gaucher's disease type 1 like myelodysplastic syndrome. (2746973)
1989

Genetic Variations for Gaucher Disease, Atypical

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Gaucher Disease, Atypical:

63
id Symbol AA change Variation SNP ID
1PSAPp.Cys388PheVAR_006945
2PSAPp.Leu349ProVAR_042441

Expression for genes affiliated with Gaucher Disease, Atypical

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Gaucher Disease, Atypical

GO Terms for genes affiliated with Gaucher Disease, Atypical

Products for genes affiliated with Gaucher Disease, Atypical

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease, Atypical

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet