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Parkinson's disease 4
Summary
- Synonym
-
- autosomal dominant Lewy body Parkinson disease 4
- autosomal dominant Parkinson disease 4
- autosomal dominant Parkinson's disease 4
- Definition
- A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22.
- Super Class
- autosomal dominant disease late onset Parkinson's disease
External Links
- Disease Ontology
- DOID:0060895
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 48 | ACO1 | aconitase 1 | |
| 50 | ACO2 | aconitase 2 | |
| 125 | ADH1B | alcohol dehydrogenase 1B (class I), beta polypeptide | |
| 126 | ADH1C | alcohol dehydrogenase 1C (class I), gamma polypeptide | |
| 127 | ADH4 | alcohol dehydrogenase 4 (class II), pi polypeptide | |
| 131 | ADH7 | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member |
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:0002360 | Sleep abnormality |
| HP:0002362 | Shuffling gait |
| HP:0002367 | Visual hallucination |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication |
| HP:0003394 | Muscle spasm |
| HP:0004409 | Hyposmia |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction |
| HP:0005340 | Spastic/hyperactive bladder |
| HP:0012450 | Chronic constipation |
| HP:0100315 | Lewy bodies |
