Parkinson disease 19a, juvenile-onset

Preferred Label : Parkinson disease 19a, juvenile-onset;

Symbol : PARK19A;

CISMeF acronym : PARK19A; PARK19B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Park19;

Included titles and symbols : Parkinson disease 19b, early-onset; PARK19B;

Description : Parkinson disease-19 is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and Koroglu 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 DNAJ heat shock protein family (Hsp40) member C6 gene (DNAJC6, 608375.0001);

Prefixed ID : #615528;

Details

Origin ID

615528;

UMLS CUI

C3809811;

Automatic exact mappings (from CISMeF team)
- DnaJ heat shock protein family (Hsp40) member C6 [ORDO Gene]
DO Cross reference
- Parkinson's disease 19A [DO Concept]
Genes related to phenotype
- Dnaj/hsp40 homolog, subfamily C, member 6 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Cognitive impairment [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Hallucinations [HPO term]
- Hypometric saccades [HPO term]
- Intellectual disability [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Rapidly progressive [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Shuffling gait [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Atypical juvenile parkinsonism [ORDO Disease]
- Young-onset Parkinson disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Parkinson Disease 19A, Juvenile-Onset [NCIt concept]
Validated automatic mappings to BTNT
- Parkinson Disease 19A, Juvenile-Onset [NCIt concept]
- Parkinson Disease 19B, Early-Onset [NCIt concept]

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