Adult-onset Primary Familial Brain Calcification
GPTKB entity
Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
gptkb:basal_ganglia
gptkb:cerebral_cortex gptkb:cerebellum |
| gptkbp:alsoKnownAs |
gptkb:Fahr's_disease
PFBC |
| gptkbp:characterizedBy |
bilateral brain calcifications
|
| gptkbp:diagnosedBy |
gptkb:CT_scan
MRI |
| gptkbp:firstDescribed |
1930
|
| gptkbp:hasOrphanetID |
ORPHA:178
|
| https://www.w3.org/2000/01/rdf-schema#label |
Adult-onset Primary Familial Brain Calcification
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PDGFRB
gptkb:PDGFB gptkb:JAM2 gptkb:SLC20A2 gptkb:XPR1 MYORG |
| gptkbp:namedAfter |
Karl Theodor Fahr
|
| gptkbp:OMIM |
213600
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
movement disorders
cognitive impairment psychiatric symptoms |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:APFBC
|
| gptkbp:bfsLayer |
7
|