Alport syndrome · Medical condition · YYNN

Alport syndrome

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Medical condition

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X-linked Alport syndrome

Alport syndrome that has material -basis in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5)

Subject of
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Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Reevaluate Living-donor Kidney Transplantation

scientific article published on 31 December 2019

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Alport syndrome is a rare genetic disorder, 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...

Instance of

designated intractable/rare disease

class of disease

Subclass of

monogenic disease

Genetic disorder

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