Basal Ganglia Calcification, Idiopathic, 1 (IBGC1)

Basal Ganglia Calcification, Idiopathic, 1(来自ICD-11)
别称:
Primary Familial Brain Calcification
Bilateral Striopallidodentate Calcinosis
Cerebrovascular Ferrocalcinosis
Bspdc
Pfbc
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification
Ibgc1
Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset
Non-Arteriosclerotic, Idiopathic, Adult-Onset Cerebral Calcification
Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset
Autosomal Dominant Adult-Onset Striopallidodentate Calcinosis
Basal Ganglia Calcification, Idiopathic, 3, Formerly
Basal Ganglia Calcification, Idiopathic, 2, Formerly
Calcification, Basal Ganglia, Idiopathic, Type 1
Familial Idiopathic Basal Ganglia Calcification
Striopallidodentate Calcinosis, Bilateral
Idiopathic Basal Ganglia Calcification 2
Idiopathic Basal Ganglia Calcification 3
Calcification, Basal Ganglia, Idiopathic
Basal Ganglia Calcification, Idiopathic
Ferrocalcinosis, Cerebrovascular
Fahr Disease, Familial, Formerly
Ferrocalcinosis Cerebro Vascular
Striopallidodentate Calcinosis
Familial Fahr Disease
Ibgc3, Formerly
Ibgc2, Formerly
Fahr's Syndrome
Fibgc
Ibgc2
Ibgc3
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Basic Information
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References Literature
Basal Ganglia Calcification, Idiopathic, 1, also known as primary familial brain calcification, is related to basal ganglia calcification and lingual-facial-buccal dyskinesia, and has symptoms including athetosis, cerebellar ataxia and muscle rigidity. An important gene associated with Basal Ganglia Calcification, Idiopathic, 1 is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Development EGFR signaling via small GTPases. The drug Etidronic acid has been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related phenotypes are seizure and cerebral calcification
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MALACARDS
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Adult
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6
64
96

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