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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15104 | Glutamine synthetase | |
| P15289 | Arylsulfatase A | |
| P16070 | CD44 antigen | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 | |
| P17405 | Sphingomyelin phosphodiesterase | |
| P17931 | Galectin-3 | |
| P19320 | Vascular cell adhesion protein 1 | |
| P19367 | Hexokinase-1 | |
| P19835 | Bile salt-activated lipase |
- 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 |
