Krabbe Disease, Atypical, Due to Saposin a Deficiency (KRBSAPA)

Alias:
Krabbe Disease, Atypical
Saposin a Deficiency
Krbsapa
Krabbe Disease Atypical Due to Saposin a Deficiency
Krabbe Disease Due to Saposin a Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Krabbe Disease, Atypical, Due to Saposin a Deficiency, also known as krabbe disease, atypical, is related to krabbe disease and lysosomal storage disease. An important gene associated with Krabbe Disease, Atypical, Due to Saposin a Deficiency is PSAP (Prosaposin). Affiliated tissues include brain, and related phenotypes are hyperreflexia and respiratory insufficiency
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
12
3

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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