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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 11343 | MGLL | monoglyceride lipase | |
| 22876 | INPP5F | inositol polyphosphate-5-phosphatase F | |
| 22933 | SIRT2 | sirtuin 2 | |
| 23098 | SARM1 | sterile alpha and TIR motif containing 1 | |
| 23205 | ACSBG1 | acyl-CoA synthetase bubblegum family member 1 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 26232 | FBXO2 | F-box protein 2 | |
| 27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 | |
| 27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase |
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 |
