Niemann-Pick Disease Type C, Juvenile Neurologic Onset

Alias:
Niemann-Pick Disease Type C, Classic Form
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Niemann-Pick Disease Type C, Juvenile Neurologic Onset, also known as niemann-pick disease type c, classic form, is related to niemann-pick disease and niemann-pick disease type c, adult neurologic onset. An important gene associated with Niemann-Pick Disease Type C, Juvenile Neurologic Onset is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways/superpathways are Plasma lipoprotein assembly, remodeling, and clearance and Ebola virus infection in host. Affiliated tissues include eye.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
2
23
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Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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