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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 |
|---|---|---|---|
| 308 | ANXA5 | annexin A5 | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 410 | ARSA | arylsulfatase A | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 683 | BST1 | bone marrow stromal cell antigen 1 | |
| 811 | CALR | calreticulin | |
| 847 | CAT | catalase | |
| 929 | CD14 | CD14 molecule | |
| 952 | CD38 | CD38 molecule | |
| 960 | CD44 | CD44 molecule (IN blood group) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15104 | Glutamine synthetase | |
| P15289 | Arylsulfatase A | |
| P16070 | CD44 antigen | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 | |
| P17405 | Sphingomyelin phosphodiesterase | |
| P17931 | Galectin-3 | |
| P19320 | Vascular cell adhesion protein 1 | |
| P19367 | Hexokinase-1 | |
| P19835 | Bile salt-activated lipase |
- 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 |
