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Parkinson's disease 23
Summary
- Synonym
-
- autosomal recessive early-onset Parkinson disease 23
- autosomal recessive early-onset Parkinson's disease 23
- Definition
- An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.
- Super Class
- autosomal recessive disease early-onset Parkinson's disease
External Links
- Disease Ontology
- DOID:0060896
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3956 | LGALS1 | galectin 1 | |
| 3958 | LGALS3 | galectin 3 | |
| 3960 | LGALS4 | galectin 4 | |
| 4051 | CYP4F3 | cytochrome P450 family 4 subfamily F member 3 | |
| 4099 | MAG | myelin associated glycoprotein | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4680 | CEACAM6 | CEA cell adhesion molecule 6 | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase |
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:0002172 | Postural instability |
| HP:0002578 | Gastroparesis |
| HP:0003394 | Muscle spasm |
| HP:0004409 | Hyposmia |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0012452 | Restless legs |
| HP:0012760 | Reduced social reciprocity |
| HP:0100543 | Cognitive impairment |
| HP:0100660 | Dyskinesia |
| HP:0100710 | Impulsivity |
