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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 |
|---|---|---|---|
| 6470 | SHMT1 | serine hydroxymethyltransferase 1 | |
| 6472 | SHMT2 | serine hydroxymethyltransferase 2 | |
| 6476 | SI | sucrase-isomaltase | |
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 | |
| 6610 | SMPD2 | sphingomyelin phosphodiesterase 2 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 6888 | TALDO1 | transaldolase 1 | |
| 6900 | CNTN2 | contactin 2 | |
| 7086 | TKT | transketolase |
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:0002322 | Resting tremor |
| HP:0002362 | Shuffling gait |
| HP:0002425 | Anarthria |
| HP:0002540 | Inability to walk |
| HP:0002578 | Gastroparesis |
| HP:0002650 | Scoliosis |
| HP:0003394 | Muscle spasm |
| HP:0004305 | Involuntary movements |
| HP:0004409 | Hyposmia |
| HP:0007164 | Slowed slurred speech |
