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 141 - 150 of 164 in total
Gene ID Gene Symbol Description Source
27349 MCAT malonyl-CoA-acyl carrier protein transacylase
51477 ISYNA1 inositol-3-phosphate synthase 1
51478 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7
51763 INPP5K inositol polyphosphate-5-phosphatase K
54600 UGT1A9 UDP glucuronosyltransferase family 1 member A9
54732 TMED9 transmembrane p24 trafficking protein 9
55512 SMPD3 sphingomyelin phosphodiesterase 3
56963 RGMA repulsive guidance molecule BMP co-receptor a
57103 TIGAR TP53 induced glycolysis regulatory phosphatase
57704 GBA2 glucosylceramidase beta 2
Related Glycoprotein
Displaying entries 131 - 132 of 132 in total
UniProt ID Protein Name Source
Q9Y286 Sialic acid-binding Ig-like lectin 7
Q9Y2H2 Phosphatidylinositide phosphatase SAC2
The Human Phenotype Ontology
Displaying entries 11 - 20 of 54 in total
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
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