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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 |
|---|---|---|
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 | |
| Q9Y2H2 | Phosphatidylinositide phosphatase SAC2 |
- 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 |
