Kufor-Rakeb syndrome

Summary
Synonym
  • autosomal recessive Parkinson disease 9
  • autosomal recessive juvenile onset Parkinson disease 9
Definition
An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36.
Super Class
autosomal recessive disease early-onset Parkinson's disease
External Links
Disease Ontology
DOID:0060556
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
5319 PLA2G1B phospholipase A2 group IB
151056 PLB1 phospholipase B1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6P1J6 Phospholipase B1, membrane-associated

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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