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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 |
|---|---|---|---|
| 9197 | SLC33A1 | solute carrier family 33 member 1 | |
| 9365 | KL | klotho | |
| 9536 | PTGES | prostaglandin E synthase | |
| 10159 | ATP6AP2 | ATPase H+ transporting accessory protein 2 | |
| 10327 | AKR1A1 | aldo-keto reductase family 1 member A1 | |
| 10457 | GPNMB | glycoprotein nmb | |
| 10724 | OGA | O-GlcNAcase | |
| 10728 | PTGES3 | prostaglandin E synthase 3 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
| 11332 | ACOT7 | acyl-CoA thioesterase 7 |
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:0000338 | Hypomimic face |
| HP:0000551 | Color vision defect |
| HP:0000651 | Diplopia |
| HP:0000713 | Agitation |
| HP:0000716 | Depression |
| HP:0000726 | Dementia |
| HP:0000727 | Frontal lobe dementia |
| HP:0000736 | Short attention span |
| HP:0000738 | Hallucinations |
| HP:0000739 | Anxiety |
