choreaacanthocytosis

Summary
Synonym
  • Levine-Critchley syndrome
  • choreo-acanthocytosis
Definition
A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
Super Class
autosomal recessive disease neuroacanthocytosis
External Links
Disease Ontology
DOID:0050766
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
1946 EFNA5 ephrin A5
2822 GPLD1 glycosylphosphatidylinositol specific phospholipase D1
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3290 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1
3339 HSPG2 heparan sulfate proteoglycan 2
3931 LCAT lecithin-cholesterol acyltransferase
3956 LGALS1 galectin 1
4023 LPL lipoprotein lipase
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024