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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 |
|---|---|---|---|
| 5319 | PLA2G1B | phospholipase A2 group IB | |
| 5337 | PLD1 | phospholipase D1 | |
| 5338 | PLD2 | phospholipase D2 | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5660 | PSAP | prosaposin | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 5973 | RENBP | renin binding protein | |
| 6319 | SCD | stearoyl-CoA desaturase |
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:0007256 | Abnormal pyramidal sign |
| HP:0007311 | Short stepped shuffling gait |
| HP:0008969 | Leg muscle stiffness |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0012378 | Fatigue |
| HP:0012444 | Brain atrophy |
| HP:0012452 | Restless legs |
| HP:0012638 | Abnormal nervous system physiology |
| HP:0012760 | Reduced social reciprocity |
| HP:0100022 | Abnormality of movement |
