neuroacanthocytosis

GPTKB entity

Statements (36)
Predicate Object
gptkbp:instanceOf gptkb:disease
syndrome
gptkbp:affects gptkb:nervous_system
blood
gptkbp:causedBy genetic disorder
gptkbp:containsGene gptkb:XK
VPS13A
gptkbp:frequency rare
gptkbp:hasOrphanetID ORPHA:98849
https://www.w3.org/2000/01/rdf-schema#label neuroacanthocytosis
gptkbp:ICD-10_code G25.8
gptkbp:inheritance X-linked recessive
autosomal recessive
gptkbp:OMIM 200150
300842
gptkbp:onset adulthood
gptkbp:otherName NA syndromes
neuroacanthocytosis syndrome
neuroacanthocytosis syndromes
gptkbp:signature acanthocytosis
spiculated red blood cells
gptkbp:subspecies Chorea-acanthocytosis
McLeod syndrome
gptkbp:symptom cognitive decline
muscle weakness
seizures
dystonia
movement disorder
chorea
dysphagia
psychiatric symptoms
dysarthria
gptkbp:treatment supportive care
symptomatic treatment
gptkbp:bfsParent gptkb:Huntington's_disease-like_syndrome
gptkbp:bfsLayer 7