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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 |
|---|---|---|---|
| 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 |
|---|---|---|
| P29401 | Transketolase | |
| P30101 | Protein disulfide-isomerase A3 | |
| P32004 | Neural cell adhesion molecule L1 | |
| P34059 | N-acetylgalactosamine-6-sulfatase | |
| P34897 | Serine hydroxymethyltransferase, mitochondrial | |
| P34913 | Bifunctional epoxide hydrolase 2 | |
| P35354 | Prostaglandin G/H synthase 2 | |
| P35475 | Alpha-L-iduronidase | |
| P35610 | Sterol O-acyltransferase 1 | |
| P36222 | Chitinase-3-like protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000741 | Apathy |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001265 | Hyporeflexia |
| HP:0001332 | Dystonia |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001347 | Hyperreflexia |
| HP:0001621 | Weak voice |
