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
Displaying entries 61 - 70 of 164 in total
Gene ID Gene Symbol Description Source
2876 GPX1 glutathione peroxidase 1
2923 PDIA3 protein disulfide isomerase family A member 3
3037 HAS2 hyaluronan synthase 2
3073 HEXA hexosaminidase subunit alpha
3098 HK1 hexokinase 1
3099 HK2 hexokinase 2
3383 ICAM1 intercellular adhesion molecule 1
3425 IDUA alpha-L-iduronidase
3482 IGF2R insulin like growth factor 2 receptor
3897 L1CAM L1 cell adhesion molecule
The Human Phenotype Ontology
Displaying entries 31 - 40 of 54 in total
HPO ID HPO Term
HP:0002322 Resting tremor
HP:0002362 Shuffling gait
HP:0002425 Anarthria
HP:0002540 Inability to walk
HP:0002578 Gastroparesis
HP:0002650 Scoliosis
HP:0003394 Muscle spasm
HP:0004305 Involuntary movements
HP:0004409 Hyposmia
HP:0007164 Slowed slurred speech
Displaying 1 entry
Gene ID Gene Symbol Description
8867 SYNJ1 synaptojanin 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024