Parkinsonism with Spasticity, X-Linked (XPDS)

Alias:
X-Linked Parkinsonism-Spasticity Syndrome
Xpds
X-Linked Parkinsonism with Spasticity
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Parkinsonism with Spasticity, X-Linked, also known as x-linked parkinsonism-spasticity syndrome, is related to cerebrooculofacioskeletal syndrome and xeroderma pigmentosum-cockayne syndrome complex, and has symptoms including cogwheel rigidity, bradykinesia and resting tremor. An important gene associated with Parkinsonism with Spasticity, X-Linked is ATP6AP2 (ATPase H+ Transporting Accessory Protein 2), and among its related pathways/superpathways are Regulation of TP53 Activity and DNA repair pathways, full network. Related phenotypes are cogwheel rigidity and resting tremor
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Adolescent
<1/1000000
15
73
2

Medical Symptom

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

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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