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Browse result for Alport syndrome

※ introduction

    Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses. The disorder was first identified in a British family by the physician Cecil A. Alport in 1927. Alport syndrome once also had the label hereditary nephritis, but this is misleading as there are many other causes of hereditary kidney disease and 'nephritis'. Alport syndrome is caused by an inherited defect in type IV collagen¡ªa structural material that is needed for the normal function of different parts of the body. Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body (ears, eyes, kidneys, etc.). Depending on where the mutation is located in the genome, Alport syndrome can present itself in many forms. This includes X-linked Alport syndrome (XLAS), autosomal recessive Alport syndrome (ARAS), and autosomal dominant Alport syndrome (ADAS).

Reference
Wiki: Alport syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04742P294001287
COL4A5
Collagen alpha-5 chain
Homo sapiens
PTMD05542P534201286
COL4A4
Collagen alpha-4 chain
Homo sapiens
PTMD06130Q019551285
COL4A3
Collagen alpha-3 chain [Cleaved into: Tumstatin]
Homo sapiens