Jun 25, 2009 · 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 ...

Mar 5, 2025 · A diagnosis of COL4A1/A2-related disorders may be suspected based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests including advanced imaging techniques.

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.

Dec 24, 2024 · 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.

Distribution of COL4A1 and COL4A2 mutations in schematics of human and mouse proteins. The Col4a1 and Col4a2 genes are transcribed from a shared, bidirectional promoter. Mature proteins are composed of three distinct domains: 7S, collagenous and non-collagenous (NC1).

Jul 7, 2016 · 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 ...

COL4A1 may be a candidate gene in unexplained familial syndromes with autosomal dominant hematuria, cystic kidney disease, intracranial aneurysms, and muscle cramps. Role of COL4A1 in cerebral microangiopathy. Phenotypic spectrum associated with mutations in this gene.

The COL4A1 gene encodes the alpha-1 subunit of collagen type IV. Types I, II, and III collagen, the so-called interstitial collagens, are in many ways distinct from basement membrane collagen. Type IV collagen does not form ordered fibrillar structures; rather, a meshwork is formed by 4 molecules held together at the ends.