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Parkinson's disease 19A
Summary
- Synonym
-
- juvenile onset Parkinson disease 19A
- juvenile onset Parkinson's disease 19A
- Definition
- An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31.
- Super Class
- autosomal recessive disease early-onset Parkinson's disease
External Links
- Disease Ontology
- DOID:0060891
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2876 | GPX1 | glutathione peroxidase 1 | |
| 2923 | PDIA3 | protein disulfide isomerase family A member 3 | |
| 3037 | HAS2 | hyaluronan synthase 2 | |
| 3073 | HEXA | hexosaminidase subunit alpha | |
| 3098 | HK1 | hexokinase 1 | |
| 3099 | HK2 | hexokinase 2 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 3897 | L1CAM | L1 cell adhesion molecule |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13231 | Chitotriosidase-1 | |
| Q13393 | Phospholipase D1 | |
| Q13510 | Acid ceramidase | |
| Q14956 | Transmembrane glycoprotein NMB | |
| Q15185 | Prostaglandin E synthase 3 | |
| Q16678 | Cytochrome P450 1B1 | |
| Q16760 | Diacylglycerol kinase delta | |
| Q6P1J6 | Phospholipase B1, membrane-associated | |
| Q6SZW1 | NAD(+) hydrolase SARM1 | |
| Q6UWN5 | Ly6/PLAUR domain-containing protein 5 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000741 | Apathy |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001265 | Hyporeflexia |
| HP:0001332 | Dystonia |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001347 | Hyperreflexia |
| HP:0001621 | Weak voice |
