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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 |
|---|---|---|---|
| 1056 | CEL | carboxyl ester lipase | |
| 1103 | CHAT | choline O-acetyltransferase | |
| 1116 | CHI3L1 | chitinase 3 like 1 | |
| 1118 | CHIT1 | chitinase 1 | |
| 1272 | CNTN1 | contactin 1 | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1497 | CTNS | cystinosin, lysosomal cystine transporter | |
| 1543 | CYP1A1 | cytochrome P450 family 1 subfamily A member 1 | |
| 1544 | CYP1A2 | cytochrome P450 family 1 subfamily A member 2 | |
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 |
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:0001761 | Pes cavus |
| HP:0002014 | Diarrhea |
| HP:0002018 | Nausea |
| HP:0002019 | Constipation |
| HP:0002063 | Rigidity |
| HP:0002066 | Gait ataxia |
| HP:0002067 | Bradykinesia |
| HP:0002141 | Gait imbalance |
| HP:0002172 | Postural instability |
| HP:0002304 | Akinesia |
