familial brain calcification
GPTKB entity
Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
brain
|
| gptkbp:alsoKnownAs |
gptkb:Fahr's_disease
primary familial brain calcification |
| gptkbp:associatedWith |
gptkb:PDGFRB
gptkb:PDGFB gptkb:SLC20A2 gptkb:XPR1 MYORG |
| gptkbp:characterizedBy |
bilateral calcification of basal ganglia
calcification of other brain regions |
| gptkbp:diagnosedBy |
gptkb:CT_scan
|
| gptkbp:firstDescribed |
1930
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial brain calcification
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
Karl Theodor Fahr
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
movement disorders
cognitive impairment psychiatric symptoms |
| gptkbp:treatment |
symptomatic
|
| gptkbp:bfsParent |
gptkb:PDGFB
|
| gptkbp:bfsLayer |
7
|