Brain Small Vessel Disease 1 with or Without Ocular Anomalies (BSVD1)

Alias:

Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant

Brain Small Vessel Disease with Axenfeld-Rieger Anomaly

Leukoencephalopathy with Axenfeld-Rieger Anomaly

Brain Small Vessel Disease with Hemorrhage

Gould Syndrome 1

Bsvd1

Brain Small Vessel Disease with or Without Ocular Anomalies

Brain Small Vessel Disease, Type 1 ;porencephaly, Type 1

Porencephaly, Type 1, Autosomal Dominant, Formerly

Hemiplegia, Infantile, with Porencephaly

Hemiplegia Infantile with Porencephaly

Porencephaly Type 1 Autosomal Dominant

Porencephaly, Type 1, Formerly

Porencephaly 1, Formerly

Porencephaly, Familial

Porencephaly Type 1

Poren1, Formerly

Adt1p, Formerly

Porencephaly 1

T1p, Formerly

Poren1

Adt1p

T1p

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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

脑小血管病1伴有或不伴有眼部异常，也称为视网膜动脉扭曲、婴儿偏瘫和白质脑病，常染色体显性遗传，与胶原蛋白4a1相关脑小血管病和家族性脑室脑膜炎有关，症状包括偏瘫、肌肉痉挛和癫痫发作。与脑小血管病1伴有或不伴有眼部异常有关的重要基因是COL4A1（胶原蛋白4a1链）。相关组织包括脑和眼，相关表型包括角膜混浊和青光眼。

Related ID：

MALACARDS：BRN139

OMIM：175780

MESH：D001927