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 11 - 20 of 164 in total
Gene ID Gene Symbol Description Source
308 ANXA5 annexin A5
353 APRT adenine phosphoribosyltransferase
410 ARSA arylsulfatase A
427 ASAH1 N-acylsphingosine amidohydrolase 1
683 BST1 bone marrow stromal cell antigen 1
811 CALR calreticulin
847 CAT catalase
929 CD14 CD14 molecule
952 CD38 CD38 molecule
960 CD44 CD44 molecule (IN blood group)
The Human Phenotype Ontology
Displaying entries 21 - 30 of 33 in total
HPO ID HPO Term
HP:0002360 Sleep abnormality
HP:0002362 Shuffling gait
HP:0002367 Visual hallucination
HP:0002548 Parkinsonism with favorable response to dopaminergic medication
HP:0003394 Muscle spasm
HP:0004409 Hyposmia
HP:0004926 Orthostatic hypotension due to autonomic dysfunction
HP:0005340 Spastic/hyperactive bladder
HP:0012450 Chronic constipation
HP:0100315 Lewy bodies
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