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Fahr's disease MeSH Supplementary Concept Data 2022


MeSH Supplementary
Fahr's disease
Unique ID
C536275
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536275
Entry Term(s)
Adult-onset idiopathic nonarteriosclerotic cerebral calcification
BSPDC Bilateral striopallidodentate calcinosis
Basal Ganglia Calcification, Idiopathic, 1
Bilateral Striopallidodentate Calcinosis
Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset
Cerebrovascular ferrocalcinosis
Fahr's syndrome
Familial idiopathic basal ganglia calcification
Ferrocalcinosis, Cerebrovascular
Fibgc
Idiopathic basal ganglia calcification 1
Striopallidodentate Calcinosis
Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset
Striopallidodentate Calcinosis, Bilateral
Striopallidodentate calcinosis, autosomal dominant, adult onset
Registry Number
0
Heading Mapped to
*Basal Ganglia Diseases
*Calcinosis
*Neurodegenerative Diseases
Frequency
147
Note
A hereditary condition with autosomal dominant inheritance that is characterized by symmetric calcinosis in the basal ganglia and other brain regions. Patients can either be asymptomatic or show a variety of neuropsychiatric symptoms that include PARKINSONISM; DYSTONIA; TREMOR; ATAXIA; DEMENTIA; PSYCHOSIS; SEIZURES and CHRONIC HEADACHE. Serum levels of CALCIUM; PHOSPHATE; ALKALINE PHOSPHATASE and PARATHYROID HORMONE are normal. Onset is typically between 30 and 50 years of age. A heterozygous mutation in the SLC20A2 gene has been identified. OMIM: 213600
Date of Entry
2010/08/25
Revision Date
2020/02/28
Fahr's disease Preferred
Idiopathic basal ganglia calcification 1 Narrower
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