Genetics<unk>  is caused by mutations in COL4A3, COL4A4, and COL4A5, three of six human genes involved in basement membrane (type IV) collagen biosynthesis. Mutations in any of these genes prevent the proper production or assembly of the specialised type IV collagen '345' network which is an important structural component of basement membranes in the kidney, inner ear, and eye. It is also found in other locations, including the alveoli of the lungs. Basement membranes are thin, sheet-like structures that separate and support cells in many tissues. Type IV collagen '112' type is found in both vertebrates and invertebrates and is the major isoform in most human basement membranes. When mutations prevent the formation of 345 type IV collagen network in the glomerulus, the 112 network, which is formed in fetal development but usually replaced by 345, persists into adult life. Inheritance patterns<unk>  can have different inheritance patterns depending on which specific mutation is present. * In most people with<unk>  (about 85%), the condition is inherited in an X-linked pattern, due to mutations in the COL4A5 gene. A condition is considered X-linked if the gene involved in the disorder is located on the X chromosome. In males, who have only one X chromosome, one altered copy of the COL4A5 gene is sufficient to cause severe<unk> , explaining why most affected males eventually develop kidney failure. In females, who have two X chromosomes, a mutation in one copy of the COL4A5 gene usually results in blood in the urine, but most affected females do not develop kidney failure. *<unk>  can also be inherited in an autosomal recessive pattern if both copies of the COL4A3 or COL4A4 gene, located on chromosome 2, have been mutated. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. * Past descriptions of an autosomal dominant form are now usually categorized as other conditions. Notably, conditions associated with giant platelets and associated with mutations of MYH9 are no longer considered to be<unk>  variants. However apparent autosomal dominant transmission of disease associated with mutations in COL4A3 and COL4A4 does occur. Clinical utility gene card for:<unk> .
Alport syndrome
Cystic kidney disease
Balkan endemic nephropathy
IgA nephropathy
Uddanam nephropathy
Sickle cell nephropathy
Mesoamerican nephropathy
Malarial nephropathy