MCID: KRB004

Krabbe Disease, Atypical malady

Summaries for Krabbe Disease, Atypical

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Sources:
48OMIM, 34MalaCards
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MalaCards: Krabbe Disease, Atypical, also known as globoid cell leukodystrophy, is related to krabbe disease atypical due to saposin a deficiency. An important gene associated with Krabbe Disease, Atypical is PSAP (prosaposin).

Description from OMIM:48 611722

Aliases & Classifications for Krabbe Disease, Atypical

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Sources:
63UMLS, 48OMIM
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Aliases & Descriptions:

krabbe disease, atypical 48
globoid cell leukodystrophy 63


Related Diseases for Krabbe Disease, Atypical

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Krabbe Disease, Atypical via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1krabbe disease atypical due to saposin a deficiency10.5

Symptoms for Krabbe Disease, Atypical

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48OMIM
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Symptoms by clinical synopsis from OMIM:

611722

Clinical features from OMIM:

611722

Drugs & Therapeutics for Krabbe Disease, Atypical

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Krabbe Disease, Atypical

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Anatomical Context for Krabbe Disease, Atypical

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Animal Models for Krabbe Disease, Atypical or affiliated genes

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Publications for Krabbe Disease, Atypical

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Variations for Krabbe Disease, Atypical

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Krabbe Disease, Atypical:

1
id Gene Name Type Significance SNP ID Assembly Location
1PSAPPSAP, 3-BP DEL, 207TGTdeletionPathogenic/card/krabbe_disease_atypical

Expression for genes affiliated with Krabbe Disease, Atypical

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Krabbe Disease, Atypical

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Pathways for genes affiliated with Krabbe Disease, Atypical

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Compounds for genes affiliated with Krabbe Disease, Atypical

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GO Terms for genes affiliated with Krabbe Disease, Atypical

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Products for genes affiliated with Krabbe Disease, Atypical

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Krabbe Disease, Atypical

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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