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
|