Parkinson's disease 4

Summary
Synonym
  • autosomal dominant Lewy body Parkinson disease 4
  • autosomal dominant Parkinson disease 4
  • autosomal dominant Parkinson's disease 4
Definition
A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22.
Super Class
autosomal dominant disease late onset Parkinson's disease
External Links
Disease Ontology
DOID:0060895
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 101 - 110 of 164 in total
Gene ID Gene Symbol Description Source
6470 SHMT1 serine hydroxymethyltransferase 1
6472 SHMT2 serine hydroxymethyltransferase 2
6476 SI sucrase-isomaltase
6517 SLC2A4 solute carrier family 2 member 4
6609 SMPD1 sphingomyelin phosphodiesterase 1
6610 SMPD2 sphingomyelin phosphodiesterase 2
6646 SOAT1 sterol O-acyltransferase 1
6888 TALDO1 transaldolase 1
6900 CNTN2 contactin 2
7086 TKT transketolase
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 33 in total
HPO ID HPO Term
HP:0001824 Weight loss
HP:0002015 Dysphagia
HP:0002063 Rigidity
HP:0002067 Bradykinesia
HP:0002120 Cerebral cortical atrophy
HP:0002171 Gliosis
HP:0002172 Postural instability
HP:0002304 Akinesia
HP:0002322 Resting tremor
HP:0002359 Frequent falls
Displaying 1 entry
Gene ID Gene Symbol Description
2629 GBA1 glucosylceramidase beta 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