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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 |
|---|---|---|---|
| 64116 | SLC39A8 | solute carrier family 39 member 8 | |
| 64132 | XYLT2 | xylosyltransferase 2 | |
| 65078 | RTN4R | reticulon 4 receptor | |
| 79154 | DHRS11 | dehydrogenase/reductase 11 | |
| 79661 | NEIL1 | nei like DNA glycosylase 1 | |
| 79993 | ELOVL7 | ELOVL fatty acid elongase 7 | |
| 80270 | HSD3B7 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | |
| 80351 | TNKS2 | tankyrase 2 | |
| 132789 | GNPDA2 | glucosamine-6-phosphate deaminase 2 | |
| 151056 | PLB1 | phospholipase B1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20815 | Cytochrome P450 3A5 | |
| P20916 | Myelin-associated glycoprotein | |
| P21399 | Cytoplasmic aconitate hydratase | |
| P21589 | 5'-nucleotidase | |
| P21964 | Catechol O-methyltransferase | |
| P22303 | Acetylcholinesterase | |
| P22897 | Macrophage mannose receptor 1 | |
| P27797 | Calreticulin | |
| P28329 | Choline O-acetyltransferase | |
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 |
- 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 |
