Parkinson disease, late-onset

Preferred Label : Parkinson disease, late-onset;

Symbol : PD;

CISMeF acronym : PARK; PD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PARK;

Description : Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD; 104300), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). - Reviews Warner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. - Genetic Heterogeneity of Parkinson Disease Several gene loci implicated in autosomal dominant forms of Parkinson disease have been identified, including PARK1 (168601) and PARK4, due to mutation in or triplication of the alpha-synuclein gene (SNCA; 163890), respectively, on 4q22.1; PARK5 (191342), due to mutation in the UCHL1 gene on 4p14; PARK8 (607060), due to mutation in the LRRK2 gene (609007) on 12q12; PARK11 (607688), due to mutation in the GIGYF2 gene (612003) on 2q37; and PARK13 (610297), due to mutation in the HTRA2 gene (606441) on 2p12. PARK17 (614203) is caused by mutation in the VPS35 gene (601501) on chromosome 16q12, and PARK18 (614251) is caused by mutation in the EIF4G1 gene (600495) on chromosome 3q27. Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (600116), caused by mutation in the gene encoding parkin (PARK2; 602544) on 6q25.2-q27; PARK6 (605909), caused by mutation in the PINK1 gene (608309) on 1p36; PARK7 (606324), caused by mutation in the DJ1 gene (PARK7; 602533) on 1p36; PARK14 (612953), caused by mutation in the PLA2G6 gene (603604) on 22q13; PARK15 (260300), caused by mutation in the FBXO7 gene (605648) on 22q12-q13; PARK19 (615528), caused by mutation in the DNAJC6 gene (608375) on 1p32; and PARK20 (615530), caused by mutation in the SYNJ1 gene (604297) on 21q22.;

Inheritance : Multifactorial; Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the ataxin 2 gene (ATXN2, 601517.0001); Susceptibility conferred by mutation in the acid beta glucosidase gene (GBA, 606463.0001); Susceptibility conferred by mutation in the TATA box binding protein gene (TBP, 600075.0001); Susceptibility conferred by mutation in the alcohol dehydrogenase IC, gamma polypeptide gene (ADH1C, 103730.0003); Susceptibility conferred by mutation in the microtubule-associated protein tau gene (MAPT, 157140.0021);

Prefixed ID : #168600;

Details

Origin ID

168600;

UMLS CUI

C3160718;

Automatic exact mappings (from CISMeF team)
- GDC Primary Diagnosis Terminology [NCIt concept]
- Global Progressive Disease [NCIt concept]
- Global Progressive Disease in Blood [NCIt concept]
- Global Progressive Disease in Lymph Nodes [NCIt concept]
- Global Progressive Disease in Skin [NCIt concept]
- Global Progressive Disease in Viscera [NCIt concept]
- ITMIG MRECIST Progressive Disease [NCIt concept]
- Lugano Lymphoma Response Classification Progressive Disease by CT [NCIt concept]
- Lugano Lymphoma Response Classification Progressive Disease by PET [NCIt concept]
- Palladium [NCIt concept]
- Park (environment) [SNOMED CT concept]
- Parkinson disease [ICD-11 Subcategory]
- Parkinson disease [ORDO Disease]
- Possible diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Progressive Disease [NCIt concept]
- RECIL PD [NCIt concept]
- anesthesia, epidural [MeSH Descriptor]
- pharmacology [MeSH Qualifier]
- pharmacology [MeSH Descriptor]
Broader ORDO disease(s)
- Young-onset Parkinson disease [ORDO Disease]
Currated CISMeF NLP mapping
- late onset Parkinson's disease [DO Concept]
DO Cross reference
- late onset Parkinson's disease [DO Concept]
False automatic mappings
- Park [NCIt concept]
Genes related to phenotype
- Alcohol dehydrogenase 1c, gamma polypeptide [OMIM gene]
- Ataxin 2 [OMIM gene]
- Ataxin 3 [OMIM gene]
- Ataxin 8 opposite strand [OMIM gene]
- Glucosidase, beta, acid [OMIM gene]
- Microtubule-associated protein tau [OMIM gene]
- Tata box-binding protein [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Constipation [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Hallucinations [HPO term]
- Insidious onset [HPO term]
- Lewy bodies [HPO term]
- Mask-like facies [HPO term]
- Micrographia [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Parkinsonism [HPO term]
- Personality changes [HPO term]
- Postural instability [HPO term]
- Progressive [HPO term]
- Resting tremor [HPO term]
- Rigidity [HPO term]
- Short stepped shuffling gait [HPO term]
- Sleep disturbance [HPO term]
- Sporadic [HPO term]
- Substantia nigra gliosis [HPO term]
- Tremor [HPO term]
- Urinary urgency [HPO term]
- Weak voice [HPO term]
ORDO concept(s)
- Parkinson disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- late onset Parkinson's disease [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients