MCID: GCH014
MIFTS: 13

Gaucher Disease, Atypical malady

Metabolic diseases category

Summaries for Gaucher Disease, Atypical

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46OMIM, 32MalaCards
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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 disease type 1. An important gene associated with Gaucher Disease, Atypical is PSAP (prosaposin).

Description from OMIM:46 610539

Aliases & Classifications for Gaucher Disease, Atypical

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

gaucher disease, atypical 46
atypical gaucher disease due to saposin c deficiency 48


External Ids:

OMIM46 610539
ICD10 via Orphanet26 E75.2

Related Diseases for Gaucher Disease, Atypical

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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 deficiency10.3
2gaucher disease type 110.1

Clinical Features for Gaucher Disease, Atypical

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Sources:
46OMIM
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Clinical features from OMIM:

610539

Drugs & Therapeutics for Gaucher Disease, Atypical

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

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Anatomical Context for Gaucher Disease, Atypical

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Animal Models for Gaucher Disease, Atypical or affiliated genes

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Publications for Gaucher Disease, Atypical

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Genetic Variations for Gaucher Disease, Atypical

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Gaucher Disease, Atypical:

62
id Symbol AA change Variation ID SNP ID
1PSAPp.Cys388PheVAR_006945
2PSAPp.Leu349ProVAR_042441

Expression for genes affiliated with Gaucher Disease, Atypical

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gaucher Disease, Atypical

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Pathways for genes affiliated with Gaucher Disease, Atypical

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Compounds for genes affiliated with Gaucher Disease, Atypical

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GO Terms for genes affiliated with Gaucher Disease, Atypical

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Products for genes affiliated with Gaucher Disease, Atypical

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease, Atypical

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet