Parkinson disease 20, early-onset

Preferred Label : Parkinson disease 20, early-onset;

Symbol : PARK20;

CISMeF acronym : PARK20;

Type : Phenotype, molecular basis known;

Description : Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the synaptojanin-1 gene (SYNJ1, 604297.0001);

Prefixed ID : #615530;

Details

Origin ID

615530;

UMLS CUI

C3809824;

Automatic exact mappings (from CISMeF team)
- SYNJ1 wt Allele [NCIt concept]
- synaptojanin 1 [ORDO Gene]
- synaptojanin 1 [HGNC gene]
Currated CISMeF NLP mapping
- Parkinson's disease 20 [DO Concept]
DO Cross reference
- Parkinson's disease 20 [DO Concept]
Genes related to phenotype
- Synaptojanin 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Eyelid apraxia [HPO term]
- Mental deterioration [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Progressive [HPO term]
- Rigidity [HPO term]
- Shuffling gait [HPO term]
- Staring gaze [HPO term]
- Supranuclear gaze palsy [HPO term]
- Tremor [HPO term]
- Weak voice [HPO term]
ORDO concept(s)
- Atypical juvenile parkinsonism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Parkinson Disease 20, Early-Onset [NCIt concept]
- Parkinson's disease 20 [DO Concept]

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