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, variably associated with eye defects (congenital cataract, retinal arterial tortuosity, eye anterior segment anomaly of Axenfeld-Rieger type) and systemic findings (muscle cramps and/or se...

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 rope inside cells. When these ‘ropes’ are secreted, …

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] COL4A1 is a subunit of the type IV collagen and plays a role in angiogenesis. [8]

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 this gene and related health conditions.

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 normally encodes for the alpha-1 chain of type IV collagen 1-6.

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 Disease 1 With Or Without Ocular Anomalies. Among its related pathways are Collagen chain trimerization and Integrin Pathway.

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 eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon ...

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 recognized as a further monogenic cause of small vessel disease that can present in adulthood.

COL4A1 mutations have been identified in adult patients with cerebral small vessel diseases. COL4A1 mutations are associated with schizencephaly and hemolytic anemia; genetic testing for COL4A1 should be considered for children with these conditions.