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 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 41 - 50 of 54 in total
HPO ID HPO Term
HP:0007256 Abnormal pyramidal sign
HP:0007311 Short stepped shuffling gait
HP:0008969 Leg muscle stiffness
HP:0012332 Abnormal autonomic nervous system physiology
HP:0012378 Fatigue
HP:0012444 Brain atrophy
HP:0012452 Restless legs
HP:0012638 Abnormal nervous system physiology
HP:0012760 Reduced social reciprocity
HP:0100022 Abnormality of movement
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