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Cranio-Facial Dystonia

Alias:
Craniofacial Dystonia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cranio-Facial Dystonia, also known as craniofacial dystonia, is related to lymphatic malformation 5 and hereditary lymphedema ii, and has symptoms including torticollis, oromandibular dystonia and lingual dystonia. An important gene associated with Cranio-Facial Dystonia is TOR1A (Torsin Family 1 Member A), and among its related pathways/superpathways is Alpha-synuclein signaling. Affiliated tissues include globus pallidus and subthalamic nucleus.
Related ID：
MALACARDS：CRN225

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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6
79
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CRN225

Medical Symptom

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Description
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Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
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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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