Paroxysmal Nonkinesigenic Dyskinesia 1 (PNKD1)

Alias:
Paroxysmal Dystonic Choreoathetosis
Mount-Reback Syndrome
Dystonia 8
Pnkd1
Fpd1
Dyt8
Pdc
Dyskinesia, Nonkinesigenic, Paroxysmal, Type 1
Choreoathetosis, Familial Paroxysmal
Paroxysmal Nonkinesigenic Dyskinesia
Familial Paroxysmal Choreoathetosis
Choreoathetosis Familial Paroxysmal
Choreoathetosis, Nonkinesigenic
Choreoathetosis Nonkinesigenic
Dystonia-8
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Paroxysmal Nonkinesigenic Dyskinesia 1, also known as paroxysmal dystonic choreoathetosis, is related to paroxysmal dyskinesia and familial paroxysmal nonkinesigenic dyskinesia, and has symptoms including torticollis, dystonia, paroxysmal and myokymia. An important gene associated with Paroxysmal Nonkinesigenic Dyskinesia 1 is PNKD (PNKD Metallo-Beta-Lactamase Domain Containing). Affiliated tissues include globus pallidus and brain, and related phenotypes are paroxysmal choreoathetosis and dysarthria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
2
16
22

Medical Symptom

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Categorization
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
No data available

References Literature

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