Parkinsonism with spasticity, X-linked

Preferred Label : Parkinsonism with spasticity, X-linked;

Symbol : XPDS;

CISMeF acronym : XPDS;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ATPase, H transporting, lysosomal, accessory protein-2 gene (ATP6AP2, 300556.0002);

Prefixed ID : #300911;

Details

Origin ID

300911;

UMLS CUI

C3806722;

Automatic exact mappings (from CISMeF team)
- ATP6AP2 wt Allele [NCIt concept]
- X-linked parkinsonism-spasticity syndrome [ORDO Disease]
Genes related to phenotype
- Atpase, h+ transporting, lysosomal, accessory protein 2 [OMIM gene]
HPO term(s)
- Babinski sign [HPO term]
- Bradykinesia [HPO term]
- Cogwheel rigidity [HPO term]
- Hyperreflexia [HPO term]
- Parkinsonism [HPO term]
- Resting tremor [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked parkinsonism-spasticity syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked parkinsonism with spasticity syndrome (disorder) [SNOMED CT concept]

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