Primary Familial Brain Calcification

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:neurological_disorder gptkb:rare_disease
gptkbp:affects	gptkb:basal_ganglia gptkb:cerebral_cortex gptkb:cerebellum thalamus
gptkbp:alsoKnownAs	gptkb:Fahr's_disease Fahr disease Idiopathic Basal Ganglia Calcification
gptkbp:associatedWith	gptkb:PDGFRB gptkb:PDGFB gptkb:JAM2 gptkb:SLC20A2 gptkb:XPR1 MYORG
gptkbp:category	gptkb:neurodegenerative_disease calcification disorder
gptkbp:causedBy	gptkb:genetic_disorder
gptkbp:diagnosedBy	gptkb:CT_scan MRI
gptkbp:firstDescribed	1930
gptkbp:hasNoCure	true
gptkbp:hasOrphanetID	gptkb:ORPHA:58
gptkbp:inheritance	autosomal dominant autosomal recessive
gptkbp:namedAfter	Karl Theodor Fahr
gptkbp:OMIM	213600
gptkbp:onset	childhood adulthood
gptkbp:prevalence	very rare
gptkbp:progression	slowly progressive
gptkbp:symptom	gptkb:dementia headache movement disorders cognitive impairment seizures ataxia parkinsonism psychiatric symptoms
gptkbp:treatment	symptomatic management
gptkbp:bfsParent	gptkb:APFBC gptkb:Fahr's_disease
gptkbp:bfsLayer	9
https://www.w3.org/2000/01/rdf-schema#label	Primary Familial Brain Calcification