Parkinson disease 15, autosomal recessive early-onset

Preferred Label : Parkinson disease 15, autosomal recessive early-onset;

Symbol : PARK15;

CISMeF acronym : PARK15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pallido-pyramidal syndrome; Pallidopyramidal syndrome; PKPS; Parkinsonian-pyramidal syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the F-box only protein 7 gene (FBXO7, 605648.0001);

Prefixed ID : #260300;

Détails

Origin ID

260300;

UMLS CUI

C1850100;

Automatic exact mappings (from CISMeF team)
- F-box protein 7 [ORDO Gene]
- F-box protein 7 [HGNC gene]
- Parkinsonian pyramidal syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Pallidopyramidal syndrome [MeSH concept]
- Parkinson Disease 15, Autosomal Recessive Early-Onset [NCIt concept]
- Parkinson disease 15 [Disease (Nov.)]
- Parkinson's disease 15 [DO Concept]
- Parkinsonian-pyramidal syndrome [ORDO Disease]
- pallidopyramidal syndrome [MeSH Supplementary Concept]
DO Cross reference
- Parkinson's disease 15 [DO Concept]
Genes related to phenotype
- F-box only protein 7 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Adolescent onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bradykinesia [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Hyperreflexia [HPO term]
- Hypomimic face [HPO term]
- Lower limb spasticity [HPO term]
- Parkinsonism [HPO term]
- Parkinsonism with favorable response to dopaminergic medication [HPO term]
- Postural instability [HPO term]
- Rigidity [HPO term]
- Scissor gait [HPO term]
- Slow saccadic eye movements [HPO term]
- Slowly progressive [HPO term]
- Talipes equinovarus [HPO term]
- Tremor [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Parkinsonian-pyramidal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pallidopyramidal syndrome [MeSH concept]
- Parkinson Disease 15, Autosomal Recessive Early-Onset [NCIt concept]
- Parkinson disease 15 [Disease (Nov.)]
- Parkinson's disease 15 [DO Concept]
- Parkinsonian pyramidal syndrome (disorder) [SNOMED CT concept]
- Parkinsonian-pyramidal syndrome [ORDO Disease]
- pallidopyramidal syndrome [MeSH Supplementary Concept]

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