Encephalopathy, Familial, with Neuroserpin Inclusion Bodies (FENIB)

Alias:
Familial Encephalopathy with Neuroserpin Inclusion Bodies
Fenib
Encephalopathy, Familia, with Neuroserpin Inclusion Bodies
Familial Dementia with Neuroserpin Inclusion Bodies
Encephalopathy, Familial, with Collins Bodies
Familial Encephalopathy with Collins Bodies
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Encephalopathy, Familial, with Neuroserpin Inclusion Bodies, also known as familial encephalopathy with neuroserpin inclusion bodies, is related to progressive dementia with neuroserpin inclusion bodies and progressive myoclonic epilepsy with neuroserpin inclusion bodies, and has symptoms including myoclonus, seizures and abnormality of extrapyramidal motor function. An important gene associated with Encephalopathy, Familial, with Neuroserpin Inclusion Bodies is SERPINI1 (Serpin Family I Member 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Signaling by Hedgehog. The drug Astragalus has been mentioned in the context of this disorder. Affiliated tissues include cortex and brain, and related phenotypes are seizure and nystagmus
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
14
90
16

Medical Symptom

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

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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