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 21 - 30 of 164 in total
Gene ID Gene Symbol Description Source
1056 CEL carboxyl ester lipase
1103 CHAT choline O-acetyltransferase
1116 CHI3L1 chitinase 3 like 1
1118 CHIT1 chitinase 1
1272 CNTN1 contactin 1
1312 COMT catechol-O-methyltransferase
1497 CTNS cystinosin, lysosomal cystine transporter
1543 CYP1A1 cytochrome P450 family 1 subfamily A member 1
1544 CYP1A2 cytochrome P450 family 1 subfamily A member 2
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
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 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