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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 |
|---|---|---|---|
| 27349 | MCAT | malonyl-CoA-acyl carrier protein transacylase | |
| 51477 | ISYNA1 | inositol-3-phosphate synthase 1 | |
| 51478 | HSD17B7 | hydroxysteroid 17-beta dehydrogenase 7 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 54600 | UGT1A9 | UDP glucuronosyltransferase family 1 member A9 | |
| 54732 | TMED9 | transmembrane p24 trafficking protein 9 | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 | |
| 56963 | RGMA | repulsive guidance molecule BMP co-receptor a | |
| 57103 | TIGAR | TP53 induced glycolysis regulatory phosphatase | |
| 57704 | GBA2 | glucosylceramidase beta 2 |
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: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 |
