Basal Ganglia Calcification, Idiopathic, 1 (IBGC1)

特发性基底核钙化症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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

基底节钙化，特发性，1型，也称为家族性原发性脑钙化，与基底节钙化和舌面部颊部不自主运动有关，症状包括舞蹈病、小脑共济失调和肌肉僵硬。与基底节钙化，特发性，1型有关的重要基因是SLC20A2（溶质载体家族20成员2），其相关通路/超级通路包括胚胎和诱导多能干细胞和特异性标记物和发育EGFR信号通路通过小GTP酶。在该疾病的背景下提到了药物Etidronic acid。附属组织包括大脑和皮层，相关表型为癫痫和脑钙化。

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