MCID: KRB004

Krabbe Disease, Atypical malady

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Summaries for Krabbe Disease, Atypical

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Sources:
47OMIM, 33MalaCards
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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:47 611722

Aliases & Classifications for Krabbe Disease, Atypical

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Sources:
62UMLS, 47OMIM
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Aliases & Descriptions:

krabbe disease, atypical 47
globoid cell leukodystrophy 62


Related Diseases for Krabbe Disease, Atypical

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17GeneCards, 18GeneDecks
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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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Krabbe Disease, Atypical

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, 15Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet