2009年6月25日 · COL4A1 -related disorders cover a spectrum of overlapping phenotypes characterized by a small-vessel brain disease of varying severity including porencephaly, …

2025年3月5日 · COL4A1/A2-related disorders are caused by changes (variants) in the COL4A1 or COL4A2 genes. These genes are the blueprints for two proteins that wind together like a long …

Collagen alpha-1(IV) chain (COL4A1) is a protein that in humans is encoded by the COL4A1 gene on chromosome 13. [5] [6] It is ubiquitously expressed in many tissues and cell types. [7] …

The COL4A1 gene provides instructions for making one component of type IV collagen, which is a flexible protein important in the structure of many tissues throughout the body. Learn about …

2024年7月5日 · COL4A1 brain small-vessel disease is an autosomal dominant condition resulting from a mutation to the COL4A1 gene, located on the long arm of chromosome 13, that …

2024年12月24日 · COL4A1 (Collagen Type IV Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL4A1 include Retinal Arteries, Tortuosity Of and Brain Small Vessel …

COL4A1 -related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood.

2016年7月7日 · Clinical characteristics: The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with …

2010年6月17日 · Mutations in the COL4A1 gene encoding the type IV collagen alpha 1 chain, which are already associated with porencephaly and infantile hemiparesis, have been recently …

COL4A1 mutations have been identified in adult patients with cerebral small vessel diseases. COL4A1 mutations are associated with schizencephaly and hemolytic anemia; genetic testing …