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 11 - 19 of 19 in total
Gene ID Gene Symbol Description Source
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5320 PLA2G2A phospholipase A2 group IIA
7903 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
7941 PLA2G7 phospholipase A2 group VII
8399 PLA2G10 phospholipase A2 group X
8809 IL18R1 interleukin 18 receptor 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