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 131 - 140 of 164 in total
Gene ID Gene Symbol Description Source
11343 MGLL monoglyceride lipase
22876 INPP5F inositol polyphosphate-5-phosphatase F
22933 SIRT2 sirtuin 2
23098 SARM1 sterile alpha and TIR motif containing 1
23205 ACSBG1 acyl-CoA synthetase bubblegum family member 1
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
26232 FBXO2 F-box protein 2
27036 SIGLEC7 sialic acid binding Ig like lectin 7
27087 B3GAT1 beta-1,3-glucuronyltransferase 1
27306 HPGDS hematopoietic prostaglandin D synthase
The Human Phenotype Ontology
Displaying entries 51 - 54 of 54 in total
HPO ID HPO Term
HP:0100543 Cognitive impairment
HP:0100660 Dyskinesia
HP:0100710 Impulsivity
HP:0100785 Insomnia
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