Details of Disease

General Information of Disease (ID: DISQ75VN)

Disease Name X-linked parkinsonism-spasticity syndrome
Synonyms PARKINSONISM with spasticity, X-linked; Parkinsonism with spasticity, X-linked, X-linked recessive; XPDS
Definition
X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.
Disease Hierarchy
DISHGY45: Parkinsonian disorder
DISJP8P3: ATP6AP2-related disorder
DISQ75VN: X-linked parkinsonism-spasticity syndrome
Disease Identifiers
MONDO ID
MONDO_0010482
UMLS CUI
C3806722
OMIM ID
300911
MedGen ID
813052
Orphanet ID
363654
SNOMED CT ID
770757004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP6AP2 OT0IABVV Moderate X-linked [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.