Chronic Visceral Acid Sphingomyelinase Deficiency (NPD-B)

Alias:
Niemann-Pick Disease Type B
Chronic Visceral Asmd
Npd-B
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chronic Visceral Acid Sphingomyelinase Deficiency, also known as niemann-pick disease type b, is related to niemann-pick disease, type c1 and anterior segment dysgenesis 1. An important gene associated with Chronic Visceral Acid Sphingomyelinase Deficiency is SMPD1 (Sphingomyelin Phosphodiesterase 1). The drugs Cyclophosphamide and Alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include liver and lung, and related phenotypes are osteopenia and splenomegaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
6
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Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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