MCID: KRB004

Krabbe Disease, Atypical malady

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Summaries for Krabbe Disease, Atypical

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MalaCards based summary: Krabbe Disease, Atypical is related to krabbe disease atypical due to saposin a deficiency, and has symptoms including An important gene associated with Krabbe Disease, Atypical is PSAP (prosaposin).

Description from OMIM:46 611722

Aliases & Classifications for Krabbe Disease, Atypical

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Krabbe Disease, Atypical, Aliases & Descriptions:

Name: Krabbe Disease, Atypical 46


Related Diseases for Krabbe Disease, Atypical

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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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Symptoms by clinical synopsis from OMIM:

611722

Clinical features from OMIM:

611722

HPO human phenotypes related to Krabbe Disease, Atypical:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hyporeflexia HP:0001265
3 hypertonia HP:0001276
4 global brain atrophy HP:0002283
5 central apnea HP:0002871
6 respiratory failure HP:0002878
7 increased csf protein HP:0002922
8 infantile onset HP:0003593
9 cerebral dysmyelination HP:0007266

Drugs & Therapeutics for Krabbe Disease, Atypical

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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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Clinvar genetic disease variations for Krabbe Disease, Atypical:

6
id Gene Name Type Significance SNP ID Assembly Location
1PSAPPSAP, 3-BP DEL, 207TGTdeletionPathogenic

Expression for genes affiliated with Krabbe Disease, Atypical

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Expression patterns in normal tissues for genes affiliated with Krabbe Disease, Atypical

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

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

Sources for Krabbe 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet